MARRVEL API documentation version v2
http://api.marrvel.org/data
Home
Welcome to the MARRVEL API Documentation. The MARRVEL API allows you to retrieve the data MARRVEL serves such as OMIM, ExAC, and gnomAD from your application without searching through the web interface.
The documentation for version 1 API is moved to v1.marrvel.org/doc.
/gene
Get gene information with Entrez Gene ID
get
get /gene/entrezId/:entrezId
HTTP status code 200
Body
Media type: application/json
Type: GeneResponse
Example:
{
"alias": [
"FBL4",
"FBL5",
"MTDPS13"
],
"pharosTargetIds": [
1520
],
"chr": "6",
"type": "protein-coding",
"name": "F-box and leucine rich repeat protein 4",
"lastModified": "20191012",
"phenotypes": [
{
"id": "HP:0000047",
"ontology": {
"id": "HP:0000047",
"name": "Hypospadias",
"categories": [
{
"id": 14,
"name": "Genitourinary"
}
]
}
},
{
"id": "HP:0000574",
"ontology": {
"id": "HP:0000574",
"name": "Thick eyebrow",
"categories": [
{
"id": 5,
"name": "Integument"
}
]
}
}
],
"status": "O",
"hg19Start": 99316420,
"description": "F-box and leucine rich repeat protein 4",
"taxonId": 9606,
"entrezId": 26235,
"location": "6q16.1-q16.2",
"hg19Stop": 99395849,
"xref": {
"omimId": 605654,
"hgncId": 13601,
"ensemblId": "ENSG00000112234"
},
"symbol": "FBXL4",
"hgncId": 13601,
"gos": [
{
"goId": "GO:0000151",
"assignedBy": "PINC",
"eviCode": "TAS",
"date": "20050308",
"references": [
"PMID:10531035"
],
"ontology": {
"namespace": "cellular_component",
"id": "GO:0000151",
"name": "ubiquitin ligase complex"
}
}
],
"grch38Start": 98868535,
"grch39Stop": 98948006,
"entrezSummary": "This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]"
}
Get gene information with taxonomy ID and gene symbol
get
get /gene/taxonId/:taxonId/symbol/:symbol
HTTP status code 200
Body
Media type: application/json
Type: GeneResponse
Example:
{
"alias": [
"FBL4",
"FBL5",
"MTDPS13"
],
"pharosTargetIds": [
1520
],
"chr": "6",
"type": "protein-coding",
"name": "F-box and leucine rich repeat protein 4",
"lastModified": "20191012",
"phenotypes": [
{
"id": "HP:0000047",
"ontology": {
"id": "HP:0000047",
"name": "Hypospadias",
"categories": [
{
"id": 14,
"name": "Genitourinary"
}
]
}
},
{
"id": "HP:0000574",
"ontology": {
"id": "HP:0000574",
"name": "Thick eyebrow",
"categories": [
{
"id": 5,
"name": "Integument"
}
]
}
}
],
"status": "O",
"hg19Start": 99316420,
"description": "F-box and leucine rich repeat protein 4",
"taxonId": 9606,
"entrezId": 26235,
"location": "6q16.1-q16.2",
"hg19Stop": 99395849,
"xref": {
"omimId": 605654,
"hgncId": 13601,
"ensemblId": "ENSG00000112234"
},
"symbol": "FBXL4",
"hgncId": 13601,
"gos": [
{
"goId": "GO:0000151",
"assignedBy": "PINC",
"eviCode": "TAS",
"date": "20050308",
"references": [
"PMID:10531035"
],
"ontology": {
"namespace": "cellular_component",
"id": "GO:0000151",
"name": "ubiquitin ligase complex"
}
}
],
"grch38Start": 98868535,
"grch39Stop": 98948006,
"entrezSummary": "This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]"
}
Get human genes' information with genomic location
get
/omim
Get OMIM text description of the gene, gene-phenotype relationships, and reported allelic variants by Mim Number.
get
get /omim/mimNumber/:mimNumber
HTTP status code 200
Body
Media type: application/json
Type: object
Properties- mimNumber: required(string)
OMIM identifier, mim number, of the gene
- title: required(string)
Title and symbol, delimited with ""
- description: (string)
Text description of the gene
- phenotypes: (array of OmimPhenotype)
Items: OmimPhenotype
- mimNumber: required(integer)
- phenotype: required(string)
- phenotypeMimNumber: required(integer)
Mim number of the phenotype
- phenotypicSeriesNumber: (string)
Comma delimited list of phenotypic series numbers
- phenotypeMappingKey: (integer)
- phenotypeInheritance: (string)
- allelicVariants: (array of OmimVariant)
Items: OmimVariant
- allelicVariant: required(object)
- mimNumber: required(integer)
Mim number of the variant
- name: required(string)
- mutations: required(string)
- text: required(string)
Text description of the variant
- dbSnps: (string)
Comma delimited list of dbSNPs
- gnomadSnps: (string)
- clinvarAccessions: (array of string)
Array of ClinVar accessions
- status: (string)
The status of the variant. Either
live,moved, orremoved
- mimNumber: required(integer)
- allelicVariant: required(object)
Example:
{
"phenotypes":[
{
"mimNumber":605654,
"phenotype":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"phenotypeMimNumber":615471,
"phenotypicSeriesNumber":"PS603041",
"phenotypeMappingKey":3,
"phenotypeInheritance":"Autosomal recessive"
}
],
"allelicVariants":[
{
"number":1,
"mimNumber":605654,
"status":"live",
"name":"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"mutations":"FBXL4, GLN519TER",
"text":"In 5 affected members of a highly consanguineous Arabian family with fatal mitochondrial DNA depletion syndrome-13 (MTDPS13; {615471}), {1:Bonnen et al. (2013)} identified a homozygous c.1555C-T transition in the FBXL4 gene, resulting in a gln519-to-ter (Q519X) substitution in the C-terminal LRR domain. The mutation was found by whole-exome sequencing of the proband and showed complete segregation with the disorder in the family. The variant was not present in the NHLBI Exome Sequencing Project or 1000 Genomes Project databases, or in 408 ethnically matched control chromosomes.",
"dbSnps":"rs398123059",
"clinvarAccessions":[
"RCV000056327"
]
},
{
"number":2,
"mimNumber":605654,
"status":"live",
"name":"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"mutations":"FBXL4, ARG435TER",
"text":"In a child, born of consanguineous Arabian parents, with fatal MTDPS13 ({615471}), {1:Bonnen et al. (2013)} identified a homozygous c.1303C-T transition in the FBXL4 gene, resulting in an arg435-to-ter (R435X) substitution. The mutation was found by whole-exome sequencing and segregated with the disorder in the family. The variant was not present in the 1000 Genomes Project database or in 408 ethnically matched controls; it was found in 1 of 13,005 chromosomes in the NHLBI Exome Sequencing Project.",
"dbSnps":"rs201889294",
"clinvarAccessions":[
"RCV000056328",
"RCV000622490",
"RCV000604628"
],
"gnomadSnps":"rs201889294"
},
{
"number":3,
"mimNumber":605654,
"status":"live",
"name":"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"mutations":"FBXL4, GLY568ALA",
"text":"In a 4-year-old boy, born of consanguineous Saudi Arabian parents, with MTDPS13 ({615471}), {3:Gai et al. (2013)} identified a homozygous c.1703G-C transversion in the FBXL4 gene, resulting in a gly568-to-ala (G568A) substitution at a highly conserved residue in the LRR domain. The mutation was found by homozygosity mapping followed by whole-exome sequencing. The mutation was not present in 242 Saudi exomes, in 4,500 in-house European control chromosomes, or in the Exome Variant Server database.",
"dbSnps":"rs398123060",
"clinvarAccessions":[
"RCV000056329"
]
},
{
"number":4,
"mimNumber":605654,
"status":"live",
"name":"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"mutations":"FBXL4, ARG482TRP",
"text":"In 3 sibs, born of consanguineous Saudi Arabian parents, with MTDPS13 ({615471}), {3:Gai et al. (2013)} identified a homozygous c.1444C-T transition in the FBXL4 gene, resulting in an arg482-to-trp (R481W) substitution at a highly conserved residue in the LRR domain. The mutation was found by homozygosity mapping followed by whole-exome sequencing. It was not present in 242 Saudi exomes, in 4,500 in-house European control chromosomes, or in the Exome Variant Server database.",
"dbSnps":"rs398123061",
"clinvarAccessions":[
"RCV000056330",
"RCV000224233",
"RCV000162170"
],
"gnomadSnps":"rs398123061"
},
{
"number":5,
"mimNumber":605654,
"status":"live",
"name":"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"mutations":"FBXL4, ASP565GLY",
"text":"In an Albanian male infant with MTDPS13 ({615471}), {3:Gai et al. (2013)} identified a homozygous c.1694A-G transition in the FBXL4 gene, resulting in an asp565-to-gly (D565G) substitution at a highly conserved residue in the LRR domain. The mutation was found by whole-exome sequencing and was not present in 4,500 in-house European control chromosomes or in the Exome Variant Server database.",
"dbSnps":"rs398123062",
"clinvarAccessions":[
"RCV000056331"
]
}
],
"mimNumber":605654,
"status":"live",
"title":"F-BOX AND LEUCINE-RICH REPEAT PROTEIN 4; FBXL4",
"description":"The F box, named after cyclin F (CCNF; <a href=\"http://omim.org/entry/600227\">600227</a>), in which it was originally observed, is an approximately 40-amino acid motif that binds SKP1 (<a href=\"http://omim.org/entry/601434\">601434</a>). F-box proteins, such as FBXL4, are components of modular E3 ubiquitin protein ligases called SCFs (SKP1, cullin (see <a href=\"http://omim.org/entry/603134\">603134</a>), F-box proteins), which function in phosphorylation-dependent ubiquitination.",
"lastUpdate":"2020-02-06T07:53:08.510Z"
}
Get OMIM text description of the gene, gene-phenotype relationships, and reported allelic variants by gene symbol.
get
get /omim/gene/symbol/:geneSymbol
HTTP status code 200
Body
Media type: application/json
Type: object
Properties- mimNumber: required(string)
OMIM identifier, mim number, of the gene
- title: required(string)
Title and symbol, delimited with ""
- description: (string)
Text description of the gene
- phenotypes: (array of OmimPhenotype)
Items: OmimPhenotype
- mimNumber: required(integer)
- phenotype: required(string)
- phenotypeMimNumber: required(integer)
Mim number of the phenotype
- phenotypicSeriesNumber: (string)
Comma delimited list of phenotypic series numbers
- phenotypeMappingKey: (integer)
- phenotypeInheritance: (string)
- allelicVariants: (array of OmimVariant)
Items: OmimVariant
- allelicVariant: required(object)
- mimNumber: required(integer)
Mim number of the variant
- name: required(string)
- mutations: required(string)
- text: required(string)
Text description of the variant
- dbSnps: (string)
Comma delimited list of dbSNPs
- gnomadSnps: (string)
- clinvarAccessions: (array of string)
Array of ClinVar accessions
- status: (string)
The status of the variant. Either
live,moved, orremoved
- mimNumber: required(integer)
- allelicVariant: required(object)
Example:
{
"phenotypes":[
{
"mimNumber":605654,
"phenotype":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"phenotypeMimNumber":615471,
"phenotypicSeriesNumber":"PS603041",
"phenotypeMappingKey":3,
"phenotypeInheritance":"Autosomal recessive"
}
],
"allelicVariants":[
{
"number":1,
"mimNumber":605654,
"status":"live",
"name":"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"mutations":"FBXL4, GLN519TER",
"text":"In 5 affected members of a highly consanguineous Arabian family with fatal mitochondrial DNA depletion syndrome-13 (MTDPS13; {615471}), {1:Bonnen et al. (2013)} identified a homozygous c.1555C-T transition in the FBXL4 gene, resulting in a gln519-to-ter (Q519X) substitution in the C-terminal LRR domain. The mutation was found by whole-exome sequencing of the proband and showed complete segregation with the disorder in the family. The variant was not present in the NHLBI Exome Sequencing Project or 1000 Genomes Project databases, or in 408 ethnically matched control chromosomes.",
"dbSnps":"rs398123059",
"clinvarAccessions":[
"RCV000056327"
]
},
{
"number":2,
"mimNumber":605654,
"status":"live",
"name":"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"mutations":"FBXL4, ARG435TER",
"text":"In a child, born of consanguineous Arabian parents, with fatal MTDPS13 ({615471}), {1:Bonnen et al. (2013)} identified a homozygous c.1303C-T transition in the FBXL4 gene, resulting in an arg435-to-ter (R435X) substitution. The mutation was found by whole-exome sequencing and segregated with the disorder in the family. The variant was not present in the 1000 Genomes Project database or in 408 ethnically matched controls; it was found in 1 of 13,005 chromosomes in the NHLBI Exome Sequencing Project.",
"dbSnps":"rs201889294",
"clinvarAccessions":[
"RCV000056328",
"RCV000622490",
"RCV000604628"
],
"gnomadSnps":"rs201889294"
},
{
"number":3,
"mimNumber":605654,
"status":"live",
"name":"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"mutations":"FBXL4, GLY568ALA",
"text":"In a 4-year-old boy, born of consanguineous Saudi Arabian parents, with MTDPS13 ({615471}), {3:Gai et al. (2013)} identified a homozygous c.1703G-C transversion in the FBXL4 gene, resulting in a gly568-to-ala (G568A) substitution at a highly conserved residue in the LRR domain. The mutation was found by homozygosity mapping followed by whole-exome sequencing. The mutation was not present in 242 Saudi exomes, in 4,500 in-house European control chromosomes, or in the Exome Variant Server database.",
"dbSnps":"rs398123060",
"clinvarAccessions":[
"RCV000056329"
]
},
{
"number":4,
"mimNumber":605654,
"status":"live",
"name":"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"mutations":"FBXL4, ARG482TRP",
"text":"In 3 sibs, born of consanguineous Saudi Arabian parents, with MTDPS13 ({615471}), {3:Gai et al. (2013)} identified a homozygous c.1444C-T transition in the FBXL4 gene, resulting in an arg482-to-trp (R481W) substitution at a highly conserved residue in the LRR domain. The mutation was found by homozygosity mapping followed by whole-exome sequencing. It was not present in 242 Saudi exomes, in 4,500 in-house European control chromosomes, or in the Exome Variant Server database.",
"dbSnps":"rs398123061",
"clinvarAccessions":[
"RCV000056330",
"RCV000224233",
"RCV000162170"
],
"gnomadSnps":"rs398123061"
},
{
"number":5,
"mimNumber":605654,
"status":"live",
"name":"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"mutations":"FBXL4, ASP565GLY",
"text":"In an Albanian male infant with MTDPS13 ({615471}), {3:Gai et al. (2013)} identified a homozygous c.1694A-G transition in the FBXL4 gene, resulting in an asp565-to-gly (D565G) substitution at a highly conserved residue in the LRR domain. The mutation was found by whole-exome sequencing and was not present in 4,500 in-house European control chromosomes or in the Exome Variant Server database.",
"dbSnps":"rs398123062",
"clinvarAccessions":[
"RCV000056331"
]
}
],
"mimNumber":605654,
"status":"live",
"title":"F-BOX AND LEUCINE-RICH REPEAT PROTEIN 4; FBXL4",
"description":"The F box, named after cyclin F (CCNF; <a href=\"http://omim.org/entry/600227\">600227</a>), in which it was originally observed, is an approximately 40-amino acid motif that binds SKP1 (<a href=\"http://omim.org/entry/601434\">601434</a>). F-box proteins, such as FBXL4, are components of modular E3 ubiquitin protein ligases called SCFs (SKP1, cullin (see <a href=\"http://omim.org/entry/603134\">603134</a>), F-box proteins), which function in phosphorylation-dependent ubiquitination.",
"lastUpdate":"2020-02-06T07:53:08.510Z"
}
Get OMIM text description of the gene, gene-phenotype relationships, and reported allelic variants by gene symbol.
get
get /omim/gene/symbol/:geneSymbol/variant/:variant
HTTP status code 200
Body
Media type: application/json
Type: object
Properties- mimNumber: required(string)
OMIM identifier, mim number, of the gene
- title: required(string)
Title and symbol, delimited with ""
- description: (string)
Text description of the gene
- phenotypes: (array of object)
Items: items
- mimNumber: required(integer)
- phenotype: required(string)
- phenotypeMimNumber: required(integer)
Mim number of the phenotype
- phenotypicSeriesNumber: (string)
Comma delimited list of phenotypic series numbers
- phenotypeMappingKey: (integer)
- phenotypeInheritance: required(string required)
- allelicVariants: (array of object)
Items: items
- allelicVariant: required(object)
- mimNumber: required(integer)
Mim number of the variant
- name: required(string)
- mutations: required(string)
- text: required(string)
Text description of the variant
- isLocationMatched: required(boolean)
If the location is matched with the given variant,
true, otherwise,false. - dbSnps: (string)
Comma delimited list of dbSNPs
- gnomadSnps: (string)
- clinvarAccessions: (array of string)
Array of ClinVar accessions
- status: (string)
The status of the variant. Either
live,moved, orremoved
- mimNumber: required(integer)
- allelicVariant: required(object)
Example:
{
"phenotypes":[
{
"mimNumber":605654,
"phenotype":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"phenotypeMimNumber":615471,
"phenotypicSeriesNumber":"PS603041",
"phenotypeMappingKey":3,
"phenotypeInheritance":"Autosomal recessive"
}
],
"allelicVariants":[
{
"number":1,
"mimNumber":605654,
"status":"live",
"name":"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"mutations":"FBXL4, GLN519TER",
"text":"In 5 affected members of a highly consanguineous Arabian family with fatal mitochondrial DNA depletion syndrome-13 (MTDPS13; {615471}), {1:Bonnen et al. (2013)} identified a homozygous c.1555C-T transition in the FBXL4 gene, resulting in a gln519-to-ter (Q519X) substitution in the C-terminal LRR domain. The mutation was found by whole-exome sequencing of the proband and showed complete segregation with the disorder in the family. The variant was not present in the NHLBI Exome Sequencing Project or 1000 Genomes Project databases, or in 408 ethnically matched control chromosomes.",
"dbSnps":"rs398123059",
"clinvarAccessions":[
"RCV000056327"
]
},
{
"number":2,
"mimNumber":605654,
"status":"live",
"name":"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"mutations":"FBXL4, ARG435TER",
"text":"In a child, born of consanguineous Arabian parents, with fatal MTDPS13 ({615471}), {1:Bonnen et al. (2013)} identified a homozygous c.1303C-T transition in the FBXL4 gene, resulting in an arg435-to-ter (R435X) substitution. The mutation was found by whole-exome sequencing and segregated with the disorder in the family. The variant was not present in the 1000 Genomes Project database or in 408 ethnically matched controls; it was found in 1 of 13,005 chromosomes in the NHLBI Exome Sequencing Project.",
"dbSnps":"rs201889294",
"clinvarAccessions":[
"RCV000056328",
"RCV000622490",
"RCV000604628"
],
"gnomadSnps":"rs201889294"
},
{
"number":3,
"mimNumber":605654,
"status":"live",
"name":"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"mutations":"FBXL4, GLY568ALA",
"text":"In a 4-year-old boy, born of consanguineous Saudi Arabian parents, with MTDPS13 ({615471}), {3:Gai et al. (2013)} identified a homozygous c.1703G-C transversion in the FBXL4 gene, resulting in a gly568-to-ala (G568A) substitution at a highly conserved residue in the LRR domain. The mutation was found by homozygosity mapping followed by whole-exome sequencing. The mutation was not present in 242 Saudi exomes, in 4,500 in-house European control chromosomes, or in the Exome Variant Server database.",
"dbSnps":"rs398123060",
"clinvarAccessions":[
"RCV000056329"
]
},
{
"number":4,
"mimNumber":605654,
"status":"live",
"name":"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"mutations":"FBXL4, ARG482TRP",
"text":"In 3 sibs, born of consanguineous Saudi Arabian parents, with MTDPS13 ({615471}), {3:Gai et al. (2013)} identified a homozygous c.1444C-T transition in the FBXL4 gene, resulting in an arg482-to-trp (R481W) substitution at a highly conserved residue in the LRR domain. The mutation was found by homozygosity mapping followed by whole-exome sequencing. It was not present in 242 Saudi exomes, in 4,500 in-house European control chromosomes, or in the Exome Variant Server database.",
"dbSnps":"rs398123061",
"clinvarAccessions":[
"RCV000056330",
"RCV000224233",
"RCV000162170"
],
"gnomadSnps":"rs398123061"
},
{
"number":5,
"mimNumber":605654,
"status":"live",
"name":"MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)",
"mutations":"FBXL4, ASP565GLY",
"text":"In an Albanian male infant with MTDPS13 ({615471}), {3:Gai et al. (2013)} identified a homozygous c.1694A-G transition in the FBXL4 gene, resulting in an asp565-to-gly (D565G) substitution at a highly conserved residue in the LRR domain. The mutation was found by whole-exome sequencing and was not present in 4,500 in-house European control chromosomes or in the Exome Variant Server database.",
"dbSnps":"rs398123062",
"clinvarAccessions":[
"RCV000056331"
]
}
],
"mimNumber":605654,
"status":"live",
"title":"F-BOX AND LEUCINE-RICH REPEAT PROTEIN 4; FBXL4",
"description":"The F box, named after cyclin F (CCNF; <a href=\"http://omim.org/entry/600227\">600227</a>), in which it was originally observed, is an approximately 40-amino acid motif that binds SKP1 (<a href=\"http://omim.org/entry/601434\">601434</a>). F-box proteins, such as FBXL4, are components of modular E3 ubiquitin protein ligases called SCFs (SKP1, cullin (see <a href=\"http://omim.org/entry/603134\">603134</a>), F-box proteins), which function in phosphorylation-dependent ubiquitination.",
"lastUpdate":"2020-02-06T07:53:08.510Z"
}
/dbnsfp
Get gnomAD variant information with variant
get
get /dbnsfp/variant/:variant
HTTP status code 200
Body
Media type: application/json
Type: object
Properties- hg19Chr: required(string)
Chromosome
- hg19Pos: required(integer)
Position
- hg38Chr: (string)
Chromosome
- hg38Pos: (integer)
Position
- ref: required(string)
Reference allele
- alt: required(string)
Alternate allele
- aaRef: (string)
- aaAlt: (string)
- rsid: (string)
- symbol: (string)
- ensemblId: (string)
Ensembl ID delimited with ";"
- transcriptEnsemblId: (string)
Transcript Ensembl ID delimited with ";"
- proteinEnsemblId: (string)
Protein Ensembl ID delimited with ";"
- scores: required(object)
- SIFT: (object)
- score: required(number)
- convertedRankscore: required(number)
- prediction: required(string)
- Polyphen2HDIV: (object)
- score: required(number)
- rankscore: required(number)
- prediction: required(string)
- Polyphen2HVAR: (object)
- score: required(number)
- rankscore: required(number)
- prediction: required(string)
- LRT: (object)
- score: required(number)
- convertedRankscore: required(number)
- prediction: required(string)
- MutationTaster: (object)
- score: required(number)
- convertedRankscore: required(number)
- prediction: required(string)
- MutationAssessor: (object)
- score: required(number)
- rankscore: required(number)
- prediction: required(string)
- FATHMM: (object)
- score: required(number)
- convertedRankscore: required(number)
- prediction: required(string)
- PROVEAN: (object)
- score: required(number)
- convertedRankscore: required(number)
- prediction: required(string)
- MetaSVM: (object)
- score: required(number)
- rankscore: required(number)
- prediction: required(string)
- MCAP: (object)
- score: required(number)
- rankscore: required(number)
- prediction: required(string)
- REVEL: (object)
- score: required(number)
- rankscore: required(number)
- MutPred: (object)
- score: required(number)
- rankscore: required(number)
- CADD: (object)
- rawScore: required(number)
- rankscore: required(number)
- phred: required(number)
- DANN: (object)
- score: required(number)
- rankscore: required(number)
- fathmmMKLCoding: (object)
- score: required(number)
- rankscore: required(number)
- prediction: required(string)
- fathmmXFCoding: (object)
- score: required(number)
- rankscore: required(number)
- prediction: required(string)
- GM12878FitCons: (object)
- score: required(number)
- rankscore: required(number)
- cofidenceValue: required(number)
- GERP++RS: (object)
- score: required(number)
- rankscore: required(number)
- phyloP100wayVertebrate: (object)
- score: required(number)
- rankscore: required(number)
- phyloP30wayMammalian: (object)
- score: required(number)
- rankscore: required(number)
- phyloP17wayPrimate: (object)
- score: required(number)
- rankscore: required(number)
- phastCons100wayVertebrate: (object)
- score: required(number)
- rankscore: required(number)
- phastCons30wayMammalian: (object)
- score: required(number)
- rankscore: required(number)
- phastCons17wayPrimate: (object)
- score: required(number)
- rankscore: required(number)
- SIFT: (object)
Example:
{
"hg38Chr":"6",
"hg38Pos":98917691,
"ref":"T",
"alt":"C",
"aaRef":"T",
"aaAlt":"A",
"rsid":"rs150748757",
"hg19Chr":"6",
"hg19Pos":99365567,
"hg18Chr":"6",
"hg18Pos":99472288,
"symbol":"FBXL4",
"ensemblId":"ENSG00000112234;ENSG00000112234",
"transcriptEnsemblId":"ENST00000369244;ENST00000229971",
"proteinEnsemblId":"ENSP00000358247;ENSP00000229971",
"scores":{
"SIFT":{
"score":0.158,
"convertedRankscore":0.23905,
"prediction":"T"
},
"Polyphen2HDIV":{
"score":0.012,
"rankscore":0.17096,
"prediction":"B"
},
"Polyphen2HVAR":{
"score":0.014,
"rankscore":0.17858,
"prediction":"B"
},
"LRT":{
"score":0.000059,
"convertedRankscore":0.53742,
"prediction":"D"
},
"MutationTaster":{
"score":0.983628,
"convertedRankscore":0.40038,
"prediction":"D"
},
"MutationAssessor":{
"score":1.645,
"rankscore":0.4198,
"prediction":"L"
},
"FATHMM":{
"score":2.48,
"convertedRankscore":0.14657,
"prediction":"T"
},
"PROVEAN":{
"score":-0.87,
"convertedRankscore":0.2359,
"prediction":"N"
},
"MetaSVM":{
"score":-1.0346,
"rankscore":0.18983,
"prediction":"T"
},
"MCAP":{
"score":0.008636,
"rankscore":0.22829,
"prediction":"T"
},
"REVEL":{
"score":0.085,
"rankscore":0.25183
},
"MutPred":{
"score":null,
"rankscore":null
},
"CADD":{
"rawScore":1.697835,
"rankscore":0.19461,
"phred":17.44
},
"DANN":{
"score":0.9790374715360266,
"rankscore":0.36759
},
"fathmmMKLCoding":{
"score":0.92568,
"rankscore":0.56018,
"prediction":"D"
},
"fathmmXFCoding":{
"score":0.439729,
"rankscore":0.49858,
"prediction":"N"
},
"GM12878FitCons":{
"score":0.633656,
"rankscore":0.55848,
"confidenceValue":0
},
"GERP++RS":{
"score":4.62,
"rankscore":0.56946
},
"phyloP100wayVertebrate":{
"score":2.052,
"rankscore":0.40941
},
"phyloP30wayMammalian":{
"score":1.138,
"rankscore":0.64695
},
"phyloP17wayPrimate":{
"score":0.609,
"rankscore":0.47794
},
"phastCons100wayVertebrate":{
"score":1,
"rankscore":0.71638
},
"phastCons30wayMammalian":{
"score":1,
"rankscore":0.86279
},
"phastCons17wayPrimate":{
"score":0.997,
"rankscore":0.79791
}
}
}
/clinvar
Get ClinVar variants with gene Entrez ID
get
get /clinvar/gene/entrezId/:entrezId
HTTP status code 200
Body
Media type: application/json
Type: array of object
Items: ClinvarVariantResponse
- uid: required(number)
- title: required(string)
- start: required(number)
Variant start position
- stop: required(number)
Variant stop position
- significance: required(object)
- description: required(string)
- reviewStatus: (string)
- lastEvaluated: (string)
- condition: required(string)
Example:
[
{
"uid":608768,
"title":"GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3",
"stop":170919470,
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2014-10-31T00:00:00.000Z"
},
"start":165632,
"condition":"not provided"
},
{
"uid":608767,
"title":"GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3",
"stop":170980171,
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2017-01-05T00:00:00.000Z"
},
"start":108666,
"condition":"not provided"
},
{
"uid":608764,
"title":"GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3",
"stop":171054786,
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2013-01-01T00:00:00.000Z"
},
"start":60107,
"condition":"not provided"
},
{
"uid":563209,
"title":"GRCh37/hg19 6q16.1(chr6:98870687-99356722)x1",
"condition":"not provided",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Uncertain significance",
"lastEvaluated":"2017-11-10T00:00:00.000Z"
},
"start":98870687,
"stop":99356722
},
{
"uid":563204,
"condition":"not provided",
"start":95549951,
"title":"GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2017-08-25T00:00:00.000Z"
},
"stop":116684929
},
{
"uid":559353,
"title":"NM_012160.4(FBXL4):c.1103+30del",
"condition":"not provided",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Benign",
"lastEvaluated":"2016-03-08T00:00:00.000Z"
},
"start":99353272,
"stop":99353272
},
{
"uid":559352,
"title":"NM_012160.4(FBXL4):c.1103+30T>C",
"condition":"not provided",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Benign",
"lastEvaluated":"2016-02-29T00:00:00.000Z"
},
"start":99353272,
"stop":99353272
},
{
"uid":545084,
"title":"NM_001278716.1(FBXL4):c.1607A>C (p.Gln536Pro)",
"condition":"not provided",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Likely pathogenic",
"lastEvaluated":"2017-07-27T00:00:00.000Z"
},
"start":99323386,
"stop":99323386
},
{
"uid":520628,
"title":"NM_012160.4(FBXL4):c.827delA (p.Asn276Ilefs)",
"condition":"Inborn genetic diseases",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2015-03-13T00:00:00.000Z"
},
"start":99365281,
"stop":99365281
},
{
"uid":516975,
"title":"NM_012160.4(FBXL4):c.-69A>G",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely benign",
"lastEvaluated":"2017-09-28T00:00:00.000Z"
},
"start":99374933,
"stop":99374933
},
{
"uid":512559,
"title":"NM_012160.4(FBXL4):c.273T>C (p.Phe91=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely benign",
"lastEvaluated":"2017-10-19T00:00:00.000Z"
},
"start":99374592,
"stop":99374592
},
{
"uid":444694,
"title":"NM_001278716.1(FBXL4):c.218A>G (p.Tyr73Cys)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-02-28T00:00:00.000Z"
},
"start":99374647,
"stop":99374647
},
{
"uid":443497,
"title":"GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)",
"stop":170919482,
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2015-07-14T00:00:00.000Z"
},
"start":156975,
"condition":"See cases"
},
{
"uid":443496,
"title":"GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3",
"stop":170919482,
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2014-12-02T00:00:00.000Z"
},
"start":156975,
"condition":"See cases"
},
{
"uid":443296,
"condition":"See cases",
"start":94202605,
"title":"GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2014-06-16T00:00:00.000Z"
},
"stop":109878834
},
{
"uid":442063,
"condition":"See cases",
"start":97384446,
"title":"GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2016-02-01T00:00:00.000Z"
},
"stop":110247755
},
{
"uid":437828,
"title":"NM_001278716.1(FBXL4):c.*3_*5delTAAinsCAG",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322149,
"stop":99322151
},
{
"uid":437827,
"title":"NM_012160.4(FBXL4):c.*9A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322145,
"stop":99322145
},
{
"uid":437826,
"title":"NM_012160.4(FBXL4):c.*5A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322149,
"stop":99322149
},
{
"uid":437825,
"title":"NM_012160.4(FBXL4):c.*18A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322136,
"stop":99322136
},
{
"uid":437824,
"title":"NM_012160.4(FBXL4):c.*11G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322143,
"stop":99322143
},
{
"uid":437823,
"title":"NM_012160.4(FBXL4):c.*4A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322150,
"stop":99322150
},
{
"uid":437822,
"title":"NM_012160.4(FBXL4):c.1859C>G (p.Thr620Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322161,
"stop":99322161
},
{
"uid":437821,
"title":"NM_012160.4(FBXL4):c.1836del (p.Val613Cysfs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322184,
"stop":99322184
},
{
"uid":437820,
"title":"NM_012160.4(FBXL4):c.1826G>A (p.Ser609Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322194,
"stop":99322194
},
{
"uid":437819,
"title":"NM_012160.4(FBXL4):c.1796A>G (p.Asp599Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322224,
"stop":99322224
},
{
"uid":437818,
"title":"NM_012160.4(FBXL4):c.1788G>A (p.Ser596=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322232,
"stop":99322232
},
{
"uid":437817,
"title":"NM_012160.4(FBXL4):c.1788G>T (p.Ser596=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322232,
"stop":99322232
},
{
"uid":437816,
"title":"NM_012160.4(FBXL4):c.1787C>T (p.Ser596Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322233,
"stop":99322233
},
{
"uid":437815,
"title":"NM_012160.4(FBXL4):c.1779C>T (p.Ser593=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322241,
"stop":99322241
},
{
"uid":437814,
"title":"NM_012160.4(FBXL4):c.1778C>G (p.Ser593Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322242,
"stop":99322242
},
{
"uid":437813,
"title":"NM_012160.4(FBXL4):c.1773T>C (p.Asp591=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322247,
"stop":99322247
},
{
"uid":437812,
"title":"NM_012160.4(FBXL4):c.1772A>C (p.Asp591Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2017-11-16T00:00:00.000Z"
},
"start":99322248,
"stop":99322248
},
{
"uid":437811,
"title":"NM_012160.4(FBXL4):c.1764T>G (p.Ser588=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322256,
"stop":99322256
},
{
"uid":437810,
"title":"NM_012160.4(FBXL4):c.1760T>C (p.Leu587Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322260,
"stop":99322260
},
{
"uid":437809,
"title":"NM_012160.4(FBXL4):c.1751G>T (p.Cys584Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322269,
"stop":99322269
},
{
"uid":437808,
"title":"NM_012160.4(FBXL4):c.1748C>G (p.Ser583Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322272,
"stop":99322272
},
{
"uid":437807,
"title":"NM_012160.4(FBXL4):c.1745A>G (p.Glu582Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322275,
"stop":99322275
},
{
"uid":437806,
"title":"NM_012160.4(FBXL4):c.1745A>C (p.Glu582Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322275,
"stop":99322275
},
{
"uid":437805,
"title":"NM_012160.4(FBXL4):c.1739T>C (p.Leu580Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322281,
"stop":99322281
},
{
"uid":437804,
"title":"NM_012160.4(FBXL4):c.1739T>G (p.Leu580Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322281,
"stop":99322281
},
{
"uid":437803,
"title":"NM_012160.4(FBXL4):c.1729T>C (p.Leu577=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322291,
"stop":99322291
},
{
"uid":437802,
"title":"NM_012160.4(FBXL4):c.1723G>T (p.Ala575Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322297,
"stop":99322297
},
{
"uid":437801,
"title":"NM_012160.4(FBXL4):c.1723G>A (p.Ala575Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322297,
"stop":99322297
},
{
"uid":437800,
"title":"NM_012160.4(FBXL4):c.1722G>A (p.Pro574=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322298,
"stop":99322298
},
{
"uid":437799,
"title":"NM_012160.4(FBXL4):c.1721C>T (p.Pro574Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322299,
"stop":99322299
},
{
"uid":437798,
"title":"NM_012160.4(FBXL4):c.1721C>A (p.Pro574Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322299,
"stop":99322299
},
{
"uid":437797,
"title":"NM_012160.4(FBXL4):c.1713G>A (p.Met571Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322307,
"stop":99322307
},
{
"uid":437796,
"title":"NM_012160.4(FBXL4):c.1703-9C>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322326,
"stop":99322326
},
{
"uid":437795,
"title":"NM_012160.4(FBXL4):c.1703-10C>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322327,
"stop":99322327
},
{
"uid":437794,
"title":"NM_012160.4(FBXL4):c.1703-14T>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322331,
"stop":99322331
},
{
"uid":437793,
"title":"NM_012160.4(FBXL4):c.1702+18A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323273,
"stop":99323273
},
{
"uid":437792,
"title":"NM_012160.4(FBXL4):c.1702+11A>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323280,
"stop":99323280
},
{
"uid":437791,
"title":"NM_012160.4(FBXL4):c.1702+6G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323285,
"stop":99323285
},
{
"uid":437790,
"title":"NM_012160.4(FBXL4):c.1700T>C (p.Leu567Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323293,
"stop":99323293
},
{
"uid":437789,
"title":"NM_012160.4(FBXL4):c.1699T>C (p.Leu567=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323294,
"stop":99323294
},
{
"uid":437788,
"title":"NM_012160.4(FBXL4):c.1689G>A (p.Gln563=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323304,
"stop":99323304
},
{
"uid":437787,
"title":"NM_012160.4(FBXL4):c.1685A>G (p.Gln562Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323308,
"stop":99323308
},
{
"uid":437786,
"title":"NM_012160.4(FBXL4):c.1681T>A (p.Leu561Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323312,
"stop":99323312
},
{
"uid":437785,
"title":"NM_012160.4(FBXL4):c.1672T>G (p.Cys558Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323321,
"stop":99323321
},
{
"uid":437784,
"title":"NM_012160.4(FBXL4):c.1670A>G (p.Asn557Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323323,
"stop":99323323
},
{
"uid":437783,
"title":"NM_012160.4(FBXL4):c.1662G>A (p.Leu554=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323331,
"stop":99323331
},
{
"uid":437782,
"title":"NM_012160.4(FBXL4):c.1656T>C (p.Asp552=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323337,
"stop":99323337
},
{
"uid":437781,
"title":"NM_012160.4(FBXL4):c.1631G>A (p.Arg544Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323362,
"stop":99323362
},
{
"uid":437780,
"title":"NM_012160.4(FBXL4):c.1628A>C (p.Asn543Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323365,
"stop":99323365
},
{
"uid":437779,
"title":"NM_012160.4(FBXL4):c.1626T>G (p.Ala542=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323367,
"stop":99323367
},
{
"uid":437778,
"title":"NM_012160.4(FBXL4):c.1617T>G (p.Phe539Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323376,
"stop":99323376
},
{
"uid":437777,
"title":"NM_012160.4(FBXL4):c.1594C>G (p.Leu532Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323399,
"stop":99323399
},
{
"uid":437776,
"title":"NM_012160.4(FBXL4):c.1592A>G (p.Gln531Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323401,
"stop":99323401
},
{
"uid":437775,
"title":"NM_012160.4(FBXL4):c.1580G>T (p.Arg527Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323413,
"stop":99323413
},
{
"uid":437774,
"title":"NM_012160.4(FBXL4):c.1569G>C (p.Gly523=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323424,
"stop":99323424
},
{
"uid":437773,
"title":"NM_012160.4(FBXL4):c.1567G>A (p.Gly523Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323426,
"stop":99323426
},
{
"uid":437772,
"title":"NM_012160.4(FBXL4):c.1566C>T (p.Thr522=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323427,
"stop":99323427
},
{
"uid":437771,
"title":"NM_012160.4(FBXL4):c.1564A>G (p.Thr522Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323429,
"stop":99323429
},
{
"uid":437770,
"title":"NM_012160.4(FBXL4):c.1553T>G (p.Leu518Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323440,
"stop":99323440
},
{
"uid":437769,
"title":"NM_012160.4(FBXL4):c.1549A>C (p.Thr517Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323444,
"stop":99323444
},
{
"uid":437768,
"title":"NM_012160.4(FBXL4):c.1546C>T (p.Pro516Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323447,
"stop":99323447
},
{
"uid":437767,
"title":"NM_012160.4(FBXL4):c.1533C>A (p.Asp511Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323460,
"stop":99323460
},
{
"uid":437766,
"title":"NM_012160.4(FBXL4):c.1528C>G (p.Leu510Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323465,
"stop":99323465
},
{
"uid":437765,
"title":"NM_012160.4(FBXL4):c.1526A>C (p.Glu509Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323467,
"stop":99323467
},
{
"uid":437764,
"title":"NM_012160.4(FBXL4):c.1518A>G (p.Leu506=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323475,
"stop":99323475
},
{
"uid":437763,
"title":"NM_012160.4(FBXL4):c.1508G>T (p.Gly503Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323485,
"stop":99323485
},
{
"uid":437762,
"title":"NM_012160.4(FBXL4):c.1483A>C (p.Asn495His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323510,
"stop":99323510
},
{
"uid":437761,
"title":"NM_012160.4(FBXL4):c.1468A>G (p.Lys490Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323525,
"stop":99323525
},
{
"uid":437760,
"title":"NM_012160.4(FBXL4):c.1464A>G (p.Arg488=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323529,
"stop":99323529
},
{
"uid":437759,
"title":"NM_012160.4(FBXL4):c.1449C>G (p.Thr483=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323544,
"stop":99323544
},
{
"uid":437758,
"title":"NM_012160.4(FBXL4):c.1445G>A (p.Arg482Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323548,
"stop":99323548
},
{
"uid":437757,
"title":"NM_012160.4(FBXL4):c.1440A>T (p.Lys480Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323553,
"stop":99323553
},
{
"uid":437756,
"title":"NM_012160.4(FBXL4):c.1428C>A (p.Ala476=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323565,
"stop":99323565
},
{
"uid":437755,
"title":"NM_012160.4(FBXL4):c.1422A>G (p.Ile474Met)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323571,
"stop":99323571
},
{
"uid":437754,
"title":"NM_012160.4(FBXL4):c.1400A>G (p.Tyr467Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323593,
"stop":99323593
},
{
"uid":437753,
"title":"NM_012160.4(FBXL4):c.1399T>A (p.Tyr467Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323594,
"stop":99323594
},
{
"uid":437752,
"title":"NM_012160.4(FBXL4):c.1396G>C (p.Asp466His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323597,
"stop":99323597
},
{
"uid":437751,
"title":"NM_012160.4(FBXL4):c.1390A>G (p.Ile464Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323603,
"stop":99323603
},
{
"uid":437750,
"title":"NM_012160.4(FBXL4):c.1390-17A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323620,
"stop":99323620
},
{
"uid":437749,
"title":"NM_012160.4(FBXL4):c.1389+18C>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328411,
"stop":99328411
},
{
"uid":437748,
"title":"NM_012160.4(FBXL4):c.1389+13G>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328416,
"stop":99328416
},
{
"uid":437747,
"title":"NM_012160.4(FBXL4):c.1389+5G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328424,
"stop":99328424
},
{
"uid":437746,
"title":"NM_012160.4(FBXL4):c.1389+4A>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328425,
"stop":99328425
},
{
"uid":437745,
"title":"NM_012160.4(FBXL4):c.1389G>C (p.Met463Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328429,
"stop":99328429
},
{
"uid":437744,
"title":"NM_012160.4(FBXL4):c.1388T>C (p.Met463Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328430,
"stop":99328430
},
{
"uid":437743,
"title":"NM_012160.4(FBXL4):c.1379G>A (p.Ser460Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328439,
"stop":99328439
},
{
"uid":437742,
"title":"NM_012160.4(FBXL4):c.1370G>A (p.Ser457Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328448,
"stop":99328448
},
{
"uid":437741,
"title":"NM_012160.4(FBXL4):c.1360C>T (p.Gln454Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328458,
"stop":99328458
},
{
"uid":437740,
"title":"NM_012160.4(FBXL4):c.1356G>A (p.Glu452=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328462,
"stop":99328462
},
{
"uid":437739,
"title":"NM_012160.4(FBXL4):c.1349G>A (p.Cys450Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328469,
"stop":99328469
},
{
"uid":437738,
"title":"NM_012160.4(FBXL4):c.1344C>T (p.Asn448=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328474,
"stop":99328474
},
{
"uid":437737,
"title":"NM_012160.4(FBXL4):c.1339T>C (p.Leu447=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328479,
"stop":99328479
},
{
"uid":437736,
"title":"NM_012160.4(FBXL4):c.1336A>G (p.Ile446Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328482,
"stop":99328482
},
{
"uid":437735,
"title":"NM_012160.4(FBXL4):c.1318-10C>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328510,
"stop":99328510
},
{
"uid":437734,
"title":"NM_012160.4(FBXL4):c.1318C>G (p.Gln440Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328500,
"stop":99328500
},
{
"uid":437733,
"title":"NM_012160.4(FBXL4):c.1318-10C>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328510,
"stop":99328510
},
{
"uid":437732,
"title":"NM_012160.4(FBXL4):c.1318-15G>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328515,
"stop":99328515
},
{
"uid":437731,
"title":"NM_012160.4(FBXL4):c.1318-16T>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328516,
"stop":99328516
},
{
"uid":437730,
"title":"NM_012160.4(FBXL4):c.1317+19T>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347125,
"stop":99347125
},
{
"uid":437729,
"title":"NM_012160.4(FBXL4):c.1317+17A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347127,
"stop":99347127
},
{
"uid":437728,
"title":"NM_012160.4(FBXL4):c.1317+13C>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347131,
"stop":99347131
},
{
"uid":437727,
"title":"NM_012160.4(FBXL4):c.1311A>G (p.Lys437=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347150,
"stop":99347150
},
{
"uid":437726,
"title":"NM_012160.4(FBXL4):c.1294G>A (p.Val432Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347167,
"stop":99347167
},
{
"uid":437725,
"title":"NM_012160.4(FBXL4):c.1289G>A (p.Arg430Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347172,
"stop":99347172
},
{
"uid":437724,
"title":"NM_012160.4(FBXL4):c.1288C>T (p.Arg430Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347173,
"stop":99347173
},
{
"uid":437723,
"title":"NM_012160.4(FBXL4):c.1285A>G (p.Lys429Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347176,
"stop":99347176
},
{
"uid":437722,
"title":"NM_012160.4(FBXL4):c.1260C>T (p.Asn420=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347201,
"stop":99347201
},
{
"uid":437721,
"title":"NM_012160.4(FBXL4):c.1254T>A (p.Ala418=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347207,
"stop":99347207
},
{
"uid":437720,
"title":"NM_012160.4(FBXL4):c.1252G>A (p.Ala418Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347209,
"stop":99347209
},
{
"uid":437719,
"title":"NM_012160.4(FBXL4):c.1251A>G (p.Gln417=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347210,
"stop":99347210
},
{
"uid":437718,
"title":"NM_012160.4(FBXL4):c.1247C>T (p.Pro416Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347214,
"stop":99347214
},
{
"uid":437717,
"title":"NM_012160.4(FBXL4):c.1244C>T (p.Pro415Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347217,
"stop":99347217
},
{
"uid":437716,
"title":"NM_012160.4(FBXL4):c.1226C>A (p.Ser409Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347235,
"stop":99347235
},
{
"uid":437715,
"title":"NM_012160.4(FBXL4):c.1224C>G (p.Leu408=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347237,
"stop":99347237
},
{
"uid":437714,
"title":"NM_012160.4(FBXL4):c.1214C>A (p.Ala405Asp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347247,
"stop":99347247
},
{
"uid":437713,
"title":"NM_012160.4(FBXL4):c.1213G>A (p.Ala405Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347248,
"stop":99347248
},
{
"uid":437712,
"title":"NM_012160.4(FBXL4):c.1209A>G (p.Leu403=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347252,
"stop":99347252
},
{
"uid":437711,
"title":"NM_012160.4(FBXL4):c.1195A>T (p.Met399Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347266,
"stop":99347266
},
{
"uid":437710,
"title":"NM_012160.4(FBXL4):c.1194G>A (p.Glu398=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347267,
"stop":99347267
},
{
"uid":437709,
"title":"NM_012160.4(FBXL4):c.1190C>A (p.Ser397Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347271,
"stop":99347271
},
{
"uid":437708,
"title":"NM_012160.4(FBXL4):c.1172C>G (p.Thr391Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347289,
"stop":99347289
},
{
"uid":437707,
"title":"NM_012160.4(FBXL4):c.1172C>T (p.Thr391Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347289,
"stop":99347289
},
{
"uid":437706,
"title":"NM_012160.4(FBXL4):c.1166A>G (p.Asn389Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347295,
"stop":99347295
},
{
"uid":437705,
"title":"NM_012160.4(FBXL4):c.1156C>T (p.His386Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347305,
"stop":99347305
},
{
"uid":437704,
"title":"NM_012160.4(FBXL4):c.1153A>G (p.Ser385Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347308,
"stop":99347308
},
{
"uid":437703,
"title":"NM_012160.4(FBXL4):c.1149T>C (p.Ser383=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347312,
"stop":99347312
},
{
"uid":437702,
"title":"NM_012160.4(FBXL4):c.1139T>C (p.Leu380Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347322,
"stop":99347322
},
{
"uid":437701,
"title":"NM_012160.4(FBXL4):c.1136G>A (p.Arg379His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347325,
"stop":99347325
},
{
"uid":437700,
"title":"NM_012160.4(FBXL4):c.1135C>T (p.Arg379Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347326,
"stop":99347326
},
{
"uid":437699,
"title":"NM_012160.4(FBXL4):c.1126G>A (p.Glu376Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347335,
"stop":99347335
},
{
"uid":437698,
"title":"NM_012160.4(FBXL4):c.1125C>T (p.Ser375=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347336,
"stop":99347336
},
{
"uid":437697,
"title":"NM_012160.4(FBXL4):c.1115T>C (p.Val372Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347346,
"stop":99347346
},
{
"uid":437696,
"title":"NM_012160.4(FBXL4):c.1113G>C (p.Lys371Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347348,
"stop":99347348
},
{
"uid":437695,
"title":"NM_012160.4(FBXL4):c.1104-4G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347361,
"stop":99347361
},
{
"uid":437694,
"title":"NM_012160.4(FBXL4):c.1104-4G>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347361,
"stop":99347361
},
{
"uid":437693,
"title":"NM_012160.4(FBXL4):c.1104-13G>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347370,
"stop":99347370
},
{
"uid":437692,
"title":"NM_012160.4(FBXL4):c.1104-19T>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347376,
"stop":99347376
},
{
"uid":437691,
"title":"NM_012160.4(FBXL4):c.1103+13C>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353289,
"stop":99353289
},
{
"uid":437690,
"title":"NM_012160.4(FBXL4):c.1103+13C>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353289,
"stop":99353289
},
{
"uid":437689,
"title":"NM_012160.4(FBXL4):c.1103+12G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353290,
"stop":99353290
},
{
"uid":437688,
"title":"NM_012160.4(FBXL4):c.1103+7A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353295,
"stop":99353295
},
{
"uid":437687,
"title":"NM_012160.4(FBXL4):c.1103G>A (p.Arg368Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353302,
"stop":99353302
},
{
"uid":437686,
"title":"NM_012160.4(FBXL4):c.1087G>T (p.Val363Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353318,
"stop":99353318
},
{
"uid":437685,
"title":"NM_012160.4(FBXL4):c.1083C>T (p.Ile361=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353322,
"stop":99353322
},
{
"uid":437684,
"title":"NM_012160.4(FBXL4):c.1073G>A (p.Arg358Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353332,
"stop":99353332
},
{
"uid":437683,
"title":"NM_012160.4(FBXL4):c.1071T>G (p.Asn357Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353334,
"stop":99353334
},
{
"uid":437682,
"title":"NM_012160.4(FBXL4):c.1070A>G (p.Asn357Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353335,
"stop":99353335
},
{
"uid":437681,
"title":"NM_012160.4(FBXL4):c.1069A>G (p.Asn357Asp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353336,
"stop":99353336
},
{
"uid":437680,
"title":"NM_012160.4(FBXL4):c.1067G>C (p.Gly356Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353338,
"stop":99353338
},
{
"uid":437679,
"title":"NM_012160.4(FBXL4):c.1056A>G (p.Leu352=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353349,
"stop":99353349
},
{
"uid":437678,
"title":"NM_012160.4(FBXL4):c.1056A>T (p.Leu352Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353349,
"stop":99353349
},
{
"uid":437677,
"title":"NM_012160.4(FBXL4):c.1027C>T (p.Arg343Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353378,
"stop":99353378
},
{
"uid":437676,
"title":"NM_012160.4(FBXL4):c.1020A>G (p.Leu340=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353385,
"stop":99353385
},
{
"uid":437675,
"title":"NM_012160.4(FBXL4):c.1011G>T (p.Leu337=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353394,
"stop":99353394
},
{
"uid":437674,
"title":"NM_012160.4(FBXL4):c.1009C>T (p.Leu337=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353396,
"stop":99353396
},
{
"uid":437673,
"title":"NM_012160.4(FBXL4):c.991A>G (p.Lys331Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353414,
"stop":99353414
},
{
"uid":437672,
"title":"NM_012160.4(FBXL4):c.989C>G (p.Ala330Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353416,
"stop":99353416
},
{
"uid":437671,
"title":"NM_012160.4(FBXL4):c.989C>T (p.Ala330Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353416,
"stop":99353416
},
{
"uid":437670,
"title":"NM_012160.4(FBXL4):c.988G>A (p.Ala330Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353417,
"stop":99353417
},
{
"uid":437669,
"title":"NM_012160.4(FBXL4):c.982T>C (p.Tyr328His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353423,
"stop":99353423
},
{
"uid":437668,
"title":"NM_012160.4(FBXL4):c.971A>G (p.Asn324Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353434,
"stop":99353434
},
{
"uid":437667,
"title":"NM_012160.4(FBXL4):c.961A>G (p.Ile321Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353444,
"stop":99353444
},
{
"uid":437666,
"title":"NM_012160.4(FBXL4):c.961A>C (p.Ile321Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353444,
"stop":99353444
},
{
"uid":437665,
"title":"NM_012160.4(FBXL4):c.954G>A (p.Leu318=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353451,
"stop":99353451
},
{
"uid":437664,
"title":"NM_012160.4(FBXL4):c.953T>G (p.Leu318Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353452,
"stop":99353452
},
{
"uid":437663,
"title":"NM_012160.4(FBXL4):c.949C>T (p.Pro317Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353456,
"stop":99353456
},
{
"uid":437662,
"title":"NM_012160.4(FBXL4):c.946G>T (p.Asp316Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353459,
"stop":99353459
},
{
"uid":437661,
"title":"NM_012160.4(FBXL4):c.944G>T (p.Cys315Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353461,
"stop":99353461
},
{
"uid":437660,
"title":"NM_012160.4(FBXL4):c.937C>T (p.His313Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353468,
"stop":99353468
},
{
"uid":437659,
"title":"NM_012160.4(FBXL4):c.936G>A (p.Gln312=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353469,
"stop":99353469
},
{
"uid":437658,
"title":"NM_012160.4(FBXL4):c.933C>G (p.Ser311Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353472,
"stop":99353472
},
{
"uid":437657,
"title":"NM_012160.4(FBXL4):c.923A>G (p.Lys308Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353482,
"stop":99353482
},
{
"uid":437656,
"title":"NM_012160.4(FBXL4):c.919T>C (p.Cys307Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353486,
"stop":99353486
},
{
"uid":437655,
"title":"NM_012160.4(FBXL4):c.913C>G (p.Gln305Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353492,
"stop":99353492
},
{
"uid":437654,
"title":"NM_012160.4(FBXL4):c.906A>G (p.Arg302=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353499,
"stop":99353499
},
{
"uid":437653,
"title":"NM_012160.4(FBXL4):c.904A>G (p.Arg302Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353501,
"stop":99353501
},
{
"uid":437652,
"title":"NM_012160.4(FBXL4):c.903T>A (p.Cys301Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353502,
"stop":99353502
},
{
"uid":437651,
"title":"NM_012160.4(FBXL4):c.901T>C (p.Cys301Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353504,
"stop":99353504
},
{
"uid":437650,
"title":"NM_012160.4(FBXL4):c.893C>T (p.Pro298Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353512,
"stop":99353512
},
{
"uid":437649,
"title":"NM_012160.4(FBXL4):c.891A>G (p.Leu297=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353514,
"stop":99353514
},
{
"uid":437648,
"title":"NM_012160.4(FBXL4):c.879T>C (p.Asn293=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353526,
"stop":99353526
},
{
"uid":437647,
"title":"NM_012160.4(FBXL4):c.874C>G (p.Leu292Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353531,
"stop":99353531
},
{
"uid":437646,
"title":"NM_012160.4(FBXL4):c.872T>C (p.Ile291Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353533,
"stop":99353533
},
{
"uid":437645,
"title":"NM_012160.4(FBXL4):c.871A>G (p.Ile291Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353534,
"stop":99353534
},
{
"uid":437644,
"title":"NM_012160.4(FBXL4):c.859-1G>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353547,
"stop":99353547
},
{
"uid":437643,
"title":"NM_012160.4(FBXL4):c.859-6A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353552,
"stop":99353552
},
{
"uid":437642,
"title":"NM_012160.4(FBXL4):c.849A>C (p.Leu283=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365259,
"stop":99365259
},
{
"uid":437641,
"title":"NM_012160.4(FBXL4):c.834G>A (p.Gly278=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365274,
"stop":99365274
},
{
"uid":437640,
"title":"NM_012160.4(FBXL4):c.822G>T (p.Gly274=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365286,
"stop":99365286
},
{
"uid":437639,
"title":"NM_012160.4(FBXL4):c.818A>G (p.Glu273Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365290,
"stop":99365290
},
{
"uid":437638,
"title":"NM_012160.4(FBXL4):c.814G>A (p.Gly272Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365294,
"stop":99365294
},
{
"uid":437637,
"title":"NM_012160.4(FBXL4):c.813C>T (p.Leu271=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365295,
"stop":99365295
},
{
"uid":437636,
"title":"NM_012160.4(FBXL4):c.782G>A (p.Ser261Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365326,
"stop":99365326
},
{
"uid":437635,
"title":"NM_012160.4(FBXL4):c.776T>C (p.Met259Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365332,
"stop":99365332
},
{
"uid":437634,
"title":"NM_012160.4(FBXL4):c.773G>T (p.Gly258Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365335,
"stop":99365335
},
{
"uid":437633,
"title":"NM_012160.4(FBXL4):c.766G>A (p.Gly256Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365342,
"stop":99365342
},
{
"uid":437632,
"title":"NM_012160.4(FBXL4):c.755C>T (p.Ala252Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365353,
"stop":99365353
},
{
"uid":437631,
"title":"NM_012160.4(FBXL4):c.752A>G (p.Tyr251Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365356,
"stop":99365356
},
{
"uid":437630,
"title":"NM_012160.4(FBXL4):c.749C>T (p.Ala250Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365359,
"stop":99365359
},
{
"uid":437629,
"title":"NM_012160.4(FBXL4):c.747T>C (p.Asp249=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365361,
"stop":99365361
},
{
"uid":437628,
"title":"NM_012160.4(FBXL4):c.747T>A (p.Asp249Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365361,
"stop":99365361
},
{
"uid":437627,
"title":"NM_012160.4(FBXL4):c.744T>C (p.Asp248=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365364,
"stop":99365364
},
{
"uid":437626,
"title":"NM_012160.4(FBXL4):c.737T>C (p.Ile246Thr)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365371,
"stop":99365371
},
{
"uid":437625,
"title":"NM_012160.4(FBXL4):c.736A>G (p.Ile246Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365372,
"stop":99365372
},
{
"uid":437624,
"title":"NM_012160.4(FBXL4):c.735T>C (p.Asp245=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365373,
"stop":99365373
},
{
"uid":437623,
"title":"NM_012160.4(FBXL4):c.731A>G (p.Asn244Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365377,
"stop":99365377
},
{
"uid":437622,
"title":"NM_012160.4(FBXL4):c.730A>G (p.Asn244Asp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365378,
"stop":99365378
},
{
"uid":437621,
"title":"NM_012160.4(FBXL4):c.725A>G (p.Asp242Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365383,
"stop":99365383
},
{
"uid":437620,
"title":"NM_012160.4(FBXL4):c.724G>A (p.Asp242Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365384,
"stop":99365384
},
{
"uid":437619,
"title":"NM_012160.4(FBXL4):c.722T>C (p.Ile241Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365386,
"stop":99365386
},
{
"uid":437618,
"title":"NM_012160.4(FBXL4):c.714T>G (p.Thr238=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365394,
"stop":99365394
},
{
"uid":437617,
"title":"NM_012160.4(FBXL4):c.702T>C (p.Leu234=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365406,
"stop":99365406
},
{
"uid":437616,
"title":"NM_012160.4(FBXL4):c.682G>A (p.Val228Met)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365426,
"stop":99365426
},
{
"uid":437615,
"title":"NM_012160.4(FBXL4):c.676C>T (p.His226Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365432,
"stop":99365432
},
{
"uid":437614,
"title":"NM_012160.4(FBXL4):c.673C>T (p.Leu225=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365435,
"stop":99365435
},
{
"uid":437613,
"title":"NM_012160.4(FBXL4):c.672G>A (p.Val224=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365436,
"stop":99365436
},
{
"uid":437612,
"title":"NM_012160.4(FBXL4):c.668T>G (p.Val223Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365440,
"stop":99365440
},
{
"uid":437611,
"title":"NM_012160.4(FBXL4):c.666A>C (p.Ala222=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365442,
"stop":99365442
},
{
"uid":437610,
"title":"NM_012160.4(FBXL4):c.645A>G (p.Glu215=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365463,
"stop":99365463
},
{
"uid":437609,
"title":"NM_012160.4(FBXL4):c.645A>C (p.Glu215Asp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365463,
"stop":99365463
},
{
"uid":437608,
"title":"NM_012160.4(FBXL4):c.643G>C (p.Glu215Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365465,
"stop":99365465
},
{
"uid":437607,
"title":"NM_012160.4(FBXL4):c.637C>T (p.Leu213Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365471,
"stop":99365471
},
{
"uid":437606,
"title":"NM_012160.4(FBXL4):c.634T>G (p.Ser212Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365474,
"stop":99365474
},
{
"uid":437605,
"title":"NM_012160.4(FBXL4):c.607A>G (p.Asn203Asp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365501,
"stop":99365501
},
{
"uid":437604,
"title":"NM_012160.4(FBXL4):c.601C>T (p.Pro201Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365507,
"stop":99365507
},
{
"uid":437603,
"title":"NM_012160.4(FBXL4):c.590A>C (p.Gln197Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365518,
"stop":99365518
},
{
"uid":437602,
"title":"NM_012160.4(FBXL4):c.570G>C (p.Gln190His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365538,
"stop":99365538
},
{
"uid":437601,
"title":"NM_012160.4(FBXL4):c.567C>A (p.Arg189=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365541,
"stop":99365541
},
{
"uid":437600,
"title":"NM_012160.4(FBXL4):c.566G>T (p.Arg189Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365542,
"stop":99365542
},
{
"uid":437599,
"title":"NM_012160.4(FBXL4):c.565C>T (p.Arg189Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365543,
"stop":99365543
},
{
"uid":437598,
"title":"NM_012160.4(FBXL4):c.559C>A (p.Gln187Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365549,
"stop":99365549
},
{
"uid":437597,
"title":"NM_012160.4(FBXL4):c.558C>G (p.Ser186=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365550,
"stop":99365550
},
{
"uid":437596,
"title":"NM_012160.4(FBXL4):c.547G>C (p.Val183Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365561,
"stop":99365561
},
{
"uid":437595,
"title":"NM_012160.4(FBXL4):c.542C>T (p.Thr181Met)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365566,
"stop":99365566
},
{
"uid":437594,
"title":"NM_012160.4(FBXL4):c.541A>G (p.Thr181Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365567,
"stop":99365567
},
{
"uid":437593,
"title":"NM_012160.4(FBXL4):c.540T>G (p.Pro180=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365568,
"stop":99365568
},
{
"uid":437592,
"title":"NM_012160.4(FBXL4):c.532G>A (p.Glu178Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365576,
"stop":99365576
},
{
"uid":437591,
"title":"NM_012160.4(FBXL4):c.529T>A (p.Ser177Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365579,
"stop":99365579
},
{
"uid":437590,
"title":"NM_012160.4(FBXL4):c.527G>C (p.Trp176Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365581,
"stop":99365581
},
{
"uid":437589,
"title":"NM_012160.4(FBXL4):c.526T>C (p.Trp176Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365582,
"stop":99365582
},
{
"uid":437588,
"title":"NM_012160.4(FBXL4):c.513-13C>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365608,
"stop":99365608
},
{
"uid":437587,
"title":"NM_012160.4(FBXL4):c.513-13C>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365608,
"stop":99365608
},
{
"uid":437586,
"title":"NM_012160.4(FBXL4):c.513-16T>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365611,
"stop":99365611
},
{
"uid":437585,
"title":"NM_012160.4(FBXL4):c.506A>C (p.Glu169Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374359,
"stop":99374359
},
{
"uid":437584,
"title":"NM_012160.4(FBXL4):c.493A>C (p.Asn165His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374372,
"stop":99374372
},
{
"uid":437583,
"title":"NM_012160.4(FBXL4):c.491C>T (p.Pro164Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374374,
"stop":99374374
},
{
"uid":437582,
"title":"NM_012160.4(FBXL4):c.470G>T (p.Cys157Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374395,
"stop":99374395
},
{
"uid":437581,
"title":"NM_012160.4(FBXL4):c.454A>G (p.Ile152Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374411,
"stop":99374411
},
{
"uid":437580,
"title":"NM_012160.4(FBXL4):c.443C>T (p.Pro148Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374422,
"stop":99374422
},
{
"uid":437579,
"title":"NM_012160.4(FBXL4):c.442C>T (p.Pro148Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374423,
"stop":99374423
},
{
"uid":437578,
"title":"NM_012160.4(FBXL4):c.440A>G (p.His147Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374425,
"stop":99374425
},
{
"uid":437577,
"title":"NM_012160.4(FBXL4):c.434C>G (p.Thr145Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374431,
"stop":99374431
},
{
"uid":437576,
"title":"NM_012160.4(FBXL4):c.418G>A (p.Val140Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374447,
"stop":99374447
},
{
"uid":437575,
"title":"NM_012160.4(FBXL4):c.417_418insA (p.Val140Serfs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374447,
"stop":99374448
},
{
"uid":437574,
"title":"NM_012160.4(FBXL4):c.416C>G (p.Ala139Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374449,
"stop":99374449
},
{
"uid":437573,
"title":"NM_012160.4(FBXL4):c.415_416insTT (p.Ala139Valfs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374449,
"stop":99374450
},
{
"uid":437572,
"title":"NM_012160.4(FBXL4):c.405G>C (p.Val135=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374460,
"stop":99374460
},
{
"uid":437571,
"title":"NM_012160.4(FBXL4):c.402G>T (p.Gln134His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374463,
"stop":99374463
},
{
"uid":437570,
"title":"NM_012160.4(FBXL4):c.399A>G (p.Gln133=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374466,
"stop":99374466
},
{
"uid":437569,
"title":"NM_012160.4(FBXL4):c.396A>G (p.Glu132=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374469,
"stop":99374469
},
{
"uid":437568,
"title":"NM_012160.4(FBXL4):c.394G>A (p.Glu132Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374471,
"stop":99374471
},
{
"uid":437567,
"title":"NM_012160.4(FBXL4):c.381G>A (p.Val127=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374484,
"stop":99374484
},
{
"uid":437566,
"title":"NM_012160.4(FBXL4):c.371A>G (p.Gln124Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374494,
"stop":99374494
},
{
"uid":437565,
"title":"NM_012160.4(FBXL4):c.370C>T (p.Gln124Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374495,
"stop":99374495
},
{
"uid":437564,
"title":"NM_012160.4(FBXL4):c.353C>T (p.Pro118Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374512,
"stop":99374512
},
{
"uid":437563,
"title":"NM_012160.4(FBXL4):c.350C>T (p.Thr117Met)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374515,
"stop":99374515
},
{
"uid":437562,
"title":"NM_012160.4(FBXL4):c.335T>G (p.Leu112Trp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374530,
"stop":99374530
},
{
"uid":437561,
"title":"NM_012160.4(FBXL4):c.332C>T (p.Ser111Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374533,
"stop":99374533
},
{
"uid":437560,
"title":"NM_012160.4(FBXL4):c.300T>C (p.Tyr100=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374565,
"stop":99374565
},
{
"uid":437559,
"title":"NM_012160.4(FBXL4):c.293G>A (p.Arg98Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374572,
"stop":99374572
},
{
"uid":437558,
"title":"NM_012160.4(FBXL4):c.252A>G (p.Val84=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374613,
"stop":99374613
},
{
"uid":437557,
"title":"NM_012160.4(FBXL4):c.249T>G (p.Asn83Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374616,
"stop":99374616
},
{
"uid":437556,
"title":"NM_012160.4(FBXL4):c.249T>C (p.Asn83=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374616,
"stop":99374616
},
{
"uid":437555,
"title":"NM_012160.4(FBXL4):c.230A>G (p.Asn77Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374635,
"stop":99374635
},
{
"uid":437554,
"title":"NM_012160.4(FBXL4):c.221C>G (p.Thr74Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374644,
"stop":99374644
},
{
"uid":437553,
"title":"NM_012160.4(FBXL4):c.219T>C (p.Tyr73=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374646,
"stop":99374646
},
{
"uid":437552,
"title":"NM_012160.4(FBXL4):c.216C>T (p.Ser72=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374649,
"stop":99374649
},
{
"uid":437551,
"title":"NM_012160.4(FBXL4):c.209G>A (p.Ser70Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374656,
"stop":99374656
},
{
"uid":437550,
"title":"NM_012160.4(FBXL4):c.201T>G (p.Ser67Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374664,
"stop":99374664
},
{
"uid":437549,
"title":"NM_012160.4(FBXL4):c.194A>G (p.Tyr65Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374671,
"stop":99374671
},
{
"uid":437548,
"title":"NM_012160.4(FBXL4):c.176T>G (p.Val59Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374689,
"stop":99374689
},
{
"uid":437547,
"title":"NM_012160.4(FBXL4):c.167A>G (p.Lys56Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374698,
"stop":99374698
},
{
"uid":437546,
"title":"NM_012160.4(FBXL4):c.158A>T (p.Gln53Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374707,
"stop":99374707
},
{
"uid":437545,
"title":"NM_012160.4(FBXL4):c.137C>T (p.Pro46Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374728,
"stop":99374728
},
{
"uid":437544,
"title":"NM_012160.4(FBXL4):c.137C>G (p.Pro46Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374728,
"stop":99374728
},
{
"uid":437543,
"title":"NM_012160.4(FBXL4):c.135C>T (p.Ser45=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374730,
"stop":99374730
},
{
"uid":437542,
"title":"NM_012160.4(FBXL4):c.131C>A (p.Thr44Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374734,
"stop":99374734
},
{
"uid":437541,
"title":"NM_012160.4(FBXL4):c.130A>T (p.Thr44Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374735,
"stop":99374735
},
{
"uid":437540,
"title":"NM_012160.4(FBXL4):c.129G>C (p.Gln43His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374736,
"stop":99374736
},
{
"uid":437539,
"title":"NM_012160.4(FBXL4):c.125G>A (p.Ser42Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374740,
"stop":99374740
},
{
"uid":437538,
"title":"NM_012160.4(FBXL4):c.112A>G (p.Ile38Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374753,
"stop":99374753
},
{
"uid":437537,
"title":"NM_012160.4(FBXL4):c.109G>A (p.Ala37Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374756,
"stop":99374756
},
{
"uid":437536,
"title":"NM_012160.4(FBXL4):c.105T>C (p.His35=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374760,
"stop":99374760
},
{
"uid":437535,
"title":"NM_012160.4(FBXL4):c.104A>G (p.His35Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374761,
"stop":99374761
},
{
"uid":437534,
"title":"NM_012160.4(FBXL4):c.103C>T (p.His35Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374762,
"stop":99374762
},
{
"uid":437533,
"title":"NM_012160.4(FBXL4):c.91A>G (p.Met31Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374774,
"stop":99374774
},
{
"uid":437532,
"title":"NM_012160.4(FBXL4):c.87A>G (p.Gly29=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374778,
"stop":99374778
},
{
"uid":437531,
"title":"NM_012160.4(FBXL4):c.79A>G (p.Thr27Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374786,
"stop":99374786
},
{
"uid":437530,
"title":"NM_012160.4(FBXL4):c.78T>C (p.Ala26=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374787,
"stop":99374787
},
{
"uid":437529,
"title":"NM_012160.4(FBXL4):c.70A>G (p.Arg24Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374795,
"stop":99374795
},
{
"uid":437528,
"title":"NM_012160.4(FBXL4):c.65G>A (p.Arg22Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374800,
"stop":99374800
},
{
"uid":437527,
"title":"NM_012160.4(FBXL4):c.65G>C (p.Arg22Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374800,
"stop":99374800
},
{
"uid":437526,
"title":"NM_012160.4(FBXL4):c.62G>A (p.Arg21His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374803,
"stop":99374803
},
{
"uid":437525,
"title":"NM_012160.4(FBXL4):c.61C>T (p.Arg21Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374804,
"stop":99374804
},
{
"uid":437524,
"title":"NM_012160.4(FBXL4):c.58C>T (p.Arg20Trp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374807,
"stop":99374807
},
{
"uid":437523,
"title":"NM_012160.4(FBXL4):c.49A>G (p.Ile17Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374816,
"stop":99374816
},
{
"uid":437522,
"title":"NM_012160.4(FBXL4):c.49A>T (p.Ile17Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374816,
"stop":99374816
},
{
"uid":437521,
"title":"NM_012160.4(FBXL4):c.48T>C (p.Tyr16=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374817,
"stop":99374817
},
{
"uid":437520,
"title":"NM_012160.4(FBXL4):c.46T>C (p.Tyr16His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374819,
"stop":99374819
},
{
"uid":437519,
"title":"NM_012160.4(FBXL4):c.45T>C (p.Tyr15=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374820,
"stop":99374820
},
{
"uid":437518,
"title":"NM_012160.4(FBXL4):c.36C>G (p.Thr12=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374829,
"stop":99374829
},
{
"uid":437517,
"title":"NM_012160.4(FBXL4):c.35C>T (p.Thr12Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374830,
"stop":99374830
},
{
"uid":437516,
"title":"NM_012160.4(FBXL4):c.33G>A (p.Leu11=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374832,
"stop":99374832
},
{
"uid":437515,
"title":"NM_012160.4(FBXL4):c.23T>C (p.Leu8Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374842,
"stop":99374842
},
{
"uid":437514,
"title":"NM_012160.4(FBXL4):c.20T>C (p.Met7Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374845,
"stop":99374845
},
{
"uid":437513,
"title":"NM_012160.4(FBXL4):c.18C>T (p.Pro6=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374847,
"stop":99374847
},
{
"uid":437512,
"title":"NM_012160.4(FBXL4):c.16_18del (p.Pro6del)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374847,
"stop":99374849
},
{
"uid":437511,
"title":"NM_012160.4(FBXL4):c.15T>A (p.Phe5Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374850,
"stop":99374850
},
{
"uid":437510,
"title":"NM_012160.4(FBXL4):c.9G>A (p.Pro3=)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374856,
"stop":99374856
},
{
"uid":437509,
"title":"NM_012160.4(FBXL4):c.8C>T (p.Pro3Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374857,
"stop":99374857
},
{
"uid":437508,
"title":"NM_012160.4(FBXL4):c.6A>G (p.Ser2=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374859,
"stop":99374859
},
{
"uid":437507,
"title":"NM_012160.4(FBXL4):c.3G>A (p.Met1Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374862,
"stop":99374862
},
{
"uid":437506,
"title":"NM_012160.4(FBXL4):c.-16C>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374880,
"stop":99374880
},
{
"uid":437505,
"title":"NM_012160.4(FBXL4):c.1389+3_1389+6del",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328423,
"stop":99328426
},
{
"uid":437504,
"title":"NM_012160.4(FBXL4):c.-15A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374879,
"stop":99374879
},
{
"uid":437503,
"title":"NM_012160.4(FBXL4):c.1317G>A (p.Glu439=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347144,
"stop":99347144
},
{
"uid":437502,
"title":"NM_012160.4(FBXL4):c.858+1G>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365249,
"stop":99365249
},
{
"uid":437501,
"title":"NM_012160.4(FBXL4):c.858+5G>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365245,
"stop":99365245
},
{
"uid":437500,
"title":"NM_012160.4(FBXL4):c.513-1G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365596,
"stop":99365596
},
{
"uid":437499,
"title":"NM_012160.4(FBXL4):c.1648_1649del (p.Asp550Hisfs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-12-03T00:00:00.000Z"
},
"start":99323344,
"stop":99323345
},
{
"uid":437498,
"title":"NM_012160.4(FBXL4):c.1067delG (p.Gly356Alafs)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2018-05-21T00:00:00.000Z"
},
"start":99353338,
"stop":99353338
},
{
"uid":437496,
"title":"NM_012160.4(FBXL4):c.326del (p.Ser109Metfs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374539,
"stop":99374539
},
{
"uid":437495,
"title":"NM_012160.4(FBXL4):c.273_277del (p.Phe91Leufs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374588,
"stop":99374592
},
{
"uid":437494,
"title":"NM_012160.4(FBXL4):c.1687C>T (p.Gln563Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323306,
"stop":99323306
},
{
"uid":437493,
"title":"NM_012160.4(FBXL4):c.1210C>T (p.Gln404Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347251,
"stop":99347251
},
{
"uid":437492,
"title":"NM_012160.4(FBXL4):c.616C>T (p.Arg206Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365492,
"stop":99365492
},
{
"uid":437491,
"title":"NM_012160.4(FBXL4):c.316C>T (p.Gln106Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-11-16T00:00:00.000Z"
},
"start":99374549,
"stop":99374549
},
{
"uid":437490,
"title":"NM_012160.4(FBXL4):c.292C>T (p.Arg98Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374573,
"stop":99374573
},
{
"uid":437489,
"title":"NM_012160.4(FBXL4):c.219T>A (p.Tyr73Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374646,
"stop":99374646
},
{
"uid":437488,
"title":"NM_012160.4(FBXL4):c.106A>T (p.Arg36Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374759,
"stop":99374759
},
{
"uid":437487,
"title":"NM_012160.4(FBXL4):c.1838T>A (p.Val613Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322182,
"stop":99322182
},
{
"uid":437486,
"title":"NM_012160.4(FBXL4):c.1790A>C (p.Gln597Pro)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2018-05-23T00:00:00.000Z"
},
"start":99322230,
"stop":99322230
},
{
"uid":437485,
"title":"NM_012160.4(FBXL4):c.1772A>G (p.Asp591Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322248,
"stop":99322248
},
{
"uid":437484,
"title":"NM_012160.4(FBXL4):c.1750T>C (p.Cys584Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322270,
"stop":99322270
},
{
"uid":437483,
"title":"NM_012160.4(FBXL4):c.1698A>G (p.Ile566Met)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323295,
"stop":99323295
},
{
"uid":437482,
"title":"NM_012160.4(FBXL4):c.1652T>A (p.Ile551Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323341,
"stop":99323341
},
{
"uid":437481,
"title":"NM_012160.4(FBXL4):c.1622C>T (p.Thr541Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323371,
"stop":99323371
},
{
"uid":437480,
"title":"NM_012160.4(FBXL4):c.1586C>A (p.Ala529Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323407,
"stop":99323407
},
{
"uid":437479,
"title":"NM_012160.4(FBXL4):c.1540T>G (p.Trp514Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Likely pathogenic",
"lastEvaluated":"2017-11-16T00:00:00.000Z"
},
"start":99323453,
"stop":99323453
},
{
"uid":437478,
"title":"NM_012160.4(FBXL4):c.1411G>A (p.Ala471Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323582,
"stop":99323582
},
{
"uid":437477,
"title":"NM_012160.4(FBXL4):c.1361A>C (p.Gln454Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328457,
"stop":99328457
},
{
"uid":437476,
"title":"NM_012160.4(FBXL4):c.1304G>T (p.Arg435Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347157,
"stop":99347157
},
{
"uid":437475,
"title":"NM_012160.4(FBXL4):c.1232G>A (p.Cys411Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Likely pathogenic",
"lastEvaluated":"2018-10-31T00:00:00.000Z"
},
"start":99347229,
"stop":99347229
},
{
"uid":437474,
"title":"NM_012160.4(FBXL4):c.1229C>T (p.Ser410Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347232,
"stop":99347232
},
{
"uid":437473,
"title":"NM_012160.4(FBXL4):c.662A>T (p.Asp221Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365446,
"stop":99365446
},
{
"uid":437472,
"title":"NM_012160.4(FBXL4):c.661G>C (p.Asp221His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365447,
"stop":99365447
},
{
"uid":437471,
"title":"NM_012160.4(FBXL4):c.614T>C (p.Ile205Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365494,
"stop":99365494
},
{
"uid":437470,
"title":"NM_012160.4(FBXL4):c.445G>A (p.Gly149Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374420,
"stop":99374420
},
{
"uid":430470,
"title":"NM_012160.4(FBXL4):c.1304G>A (p.Arg435Gln)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic/Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347157,
"stop":99347157
},
{
"uid":419943,
"title":"NM_012160.4(FBXL4):c.1703-16_1703-12dup",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely benign",
"lastEvaluated":"2017-03-28T00:00:00.000Z"
},
"start":99322329,
"stop":99322333
},
{
"uid":397014,
"title":"GRCh37/hg19 6q16.1(chr6:99331183-99393661)x1",
"condition":"See cases",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Uncertain significance",
"lastEvaluated":null
},
"start":99331183,
"stop":99393661
},
{
"uid":396191,
"condition":"See cases",
"start":85988428,
"title":"GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":null
},
"stop":120548687
},
{
"uid":396129,
"condition":"See cases",
"start":92576950,
"title":"GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":null
},
"stop":104658245
},
{
"uid":395806,
"condition":"See cases",
"start":99283597,
"title":"GRCh37/hg19 6q16.1-16.3(chr6:99283597-100910572)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Uncertain significance",
"lastEvaluated":null
},
"stop":100910572
},
{
"uid":389412,
"title":"NM_012160.4(FBXL4):c.1353A>G (p.Ser451=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328465,
"stop":99328465
},
{
"uid":389040,
"title":"NM_012160.4(FBXL4):c.351G>A (p.Thr117=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374514,
"stop":99374514
},
{
"uid":384777,
"title":"NM_012160.4(FBXL4):c.1317+14A>G",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2017-09-15T00:00:00.000Z"
},
"start":99347130,
"stop":99347130
},
{
"uid":382986,
"title":"NM_012160.4(FBXL4):c.429A>G (p.Leu143=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Likely benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374436,
"stop":99374436
},
{
"uid":381422,
"title":"NM_012160.4(FBXL4):c.*3T>C",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322151,
"stop":99322151
},
{
"uid":380510,
"title":"NM_012160.4(FBXL4):c.978A>G (p.Gln326=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353427,
"stop":99353427
},
{
"uid":380454,
"title":"NM_012160.4(FBXL4):c.468T>C (p.Ala156=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign/Likely benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374397,
"stop":99374397
},
{
"uid":375387,
"title":"NM_012160.4(FBXL4):c.419T>C (p.Val140Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374446,
"stop":99374446
},
{
"uid":373158,
"title":"NM_012160.4(FBXL4):c.1025C>G (p.Ser342Cys)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353380,
"stop":99353380
},
{
"uid":280414,
"title":"NM_012160.3(FBXL4):c.618_621dupACTG",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2018-12-07T00:00:00.000Z"
},
"start":99365487,
"stop":99365490
},
{
"uid":265143,
"title":"NM_012160.4(FBXL4):c.1641_1642del (p.Cys547Terfs)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323351,
"stop":99323352
},
{
"uid":260209,
"title":"NM_012160.4(FBXL4):c.465C>T (p.Leu155=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374400,
"stop":99374400
},
{
"uid":260208,
"title":"NM_012160.4(FBXL4):c.1569G>A (p.Gly523=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323424,
"stop":99323424
},
{
"uid":260207,
"title":"NM_012160.4(FBXL4):c.105T>A (p.His35Gln)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374760,
"stop":99374760
},
{
"uid":235778,
"title":"NM_012160.4(FBXL4):c.1546_1563del (p.Pro516_Ser521del)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323430,
"stop":99323447
},
{
"uid":235493,
"title":"NM_001278716.1(FBXL4):c.1440_1441insA (p.Leu481Thrfs)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2016-04-29T00:00:00.000Z"
},
"start":99323553,
"stop":99323553
},
{
"uid":224911,
"title":"NM_012160.4(FBXL4):c.1442T>C (p.Leu481Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323551,
"stop":99323551
},
{
"uid":209153,
"title":"NM_012160.4(FBXL4):c.64C>T (p.Arg22Ter)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-11-07T00:00:00.000Z"
},
"start":99374801,
"stop":99374801
},
{
"uid":154571,
"condition":"See cases",
"start":99218523,
"title":"GRCh38/hg38 6q16.1-16.2(chr6:98770647-99813111)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Uncertain significance",
"lastEvaluated":"2010-10-19T00:00:00.000Z"
},
"stop":100260987
},
{
"uid":150937,
"condition":"See cases",
"start":75092523,
"title":"GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2011-07-05T00:00:00.000Z"
},
"stop":142361637
},
{
"uid":150641,
"condition":"See cases",
"start":97057870,
"title":"GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2011-08-02T00:00:00.000Z"
},
"stop":122482694
},
{
"uid":66094,
"title":"NM_012160.4(FBXL4):c.1694A>G (p.Asp565Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323299,
"stop":99323299
},
{
"uid":66093,
"title":"NM_012160.4(FBXL4):c.1444C>T (p.Arg482Trp)",
"condition":"Mitochondrial encephalomyopathy",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic/Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323549,
"stop":99323549
},
{
"uid":66092,
"title":"NM_012160.4(FBXL4):c.1703G>C (p.Gly568Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic/Likely pathogenic",
"lastEvaluated":"2017-11-16T00:00:00.000Z"
},
"start":99322317,
"stop":99322317
},
{
"uid":66091,
"title":"NM_012160.4(FBXL4):c.1303C>T (p.Arg435Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347158,
"stop":99347158
},
{
"uid":66090,
"title":"NM_012160.4(FBXL4):c.1555C>T (p.Gln519Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323438,
"stop":99323438
},
{
"uid":58440,
"condition":"See cases",
"start":99116405,
"title":"GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2011-08-12T00:00:00.000Z"
},
"stop":101714826
},
{
"uid":58439,
"condition":"See cases",
"start":98301652,
"title":"GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2011-08-12T00:00:00.000Z"
},
"stop":103028472
}
]
Get ClinVar variants with gene Entrez ID
get
get /clinvar/gene/symbol/:geneSymbol
HTTP status code 200
Body
Media type: application/json
Type: array of object
Items: ClinvarVariantResponse
- uid: required(number)
- title: required(string)
- start: required(number)
Variant start position
- stop: required(number)
Variant stop position
- significance: required(object)
- description: required(string)
- reviewStatus: (string)
- lastEvaluated: (string)
- condition: required(string)
Example:
[
{
"uid":608768,
"title":"GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3",
"stop":170919470,
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2014-10-31T00:00:00.000Z"
},
"start":165632,
"condition":"not provided"
},
{
"uid":608767,
"title":"GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3",
"stop":170980171,
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2017-01-05T00:00:00.000Z"
},
"start":108666,
"condition":"not provided"
},
{
"uid":608764,
"title":"GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3",
"stop":171054786,
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2013-01-01T00:00:00.000Z"
},
"start":60107,
"condition":"not provided"
},
{
"uid":563209,
"title":"GRCh37/hg19 6q16.1(chr6:98870687-99356722)x1",
"condition":"not provided",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Uncertain significance",
"lastEvaluated":"2017-11-10T00:00:00.000Z"
},
"start":98870687,
"stop":99356722
},
{
"uid":563204,
"condition":"not provided",
"start":95549951,
"title":"GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2017-08-25T00:00:00.000Z"
},
"stop":116684929
},
{
"uid":559353,
"title":"NM_012160.4(FBXL4):c.1103+30del",
"condition":"not provided",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Benign",
"lastEvaluated":"2016-03-08T00:00:00.000Z"
},
"start":99353272,
"stop":99353272
},
{
"uid":559352,
"title":"NM_012160.4(FBXL4):c.1103+30T>C",
"condition":"not provided",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Benign",
"lastEvaluated":"2016-02-29T00:00:00.000Z"
},
"start":99353272,
"stop":99353272
},
{
"uid":545084,
"title":"NM_001278716.1(FBXL4):c.1607A>C (p.Gln536Pro)",
"condition":"not provided",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Likely pathogenic",
"lastEvaluated":"2017-07-27T00:00:00.000Z"
},
"start":99323386,
"stop":99323386
},
{
"uid":520628,
"title":"NM_012160.4(FBXL4):c.827delA (p.Asn276Ilefs)",
"condition":"Inborn genetic diseases",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2015-03-13T00:00:00.000Z"
},
"start":99365281,
"stop":99365281
},
{
"uid":516975,
"title":"NM_012160.4(FBXL4):c.-69A>G",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely benign",
"lastEvaluated":"2017-09-28T00:00:00.000Z"
},
"start":99374933,
"stop":99374933
},
{
"uid":512559,
"title":"NM_012160.4(FBXL4):c.273T>C (p.Phe91=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely benign",
"lastEvaluated":"2017-10-19T00:00:00.000Z"
},
"start":99374592,
"stop":99374592
},
{
"uid":444694,
"title":"NM_001278716.1(FBXL4):c.218A>G (p.Tyr73Cys)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-02-28T00:00:00.000Z"
},
"start":99374647,
"stop":99374647
},
{
"uid":443497,
"title":"GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)",
"stop":170919482,
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2015-07-14T00:00:00.000Z"
},
"start":156975,
"condition":"See cases"
},
{
"uid":443496,
"title":"GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3",
"stop":170919482,
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2014-12-02T00:00:00.000Z"
},
"start":156975,
"condition":"See cases"
},
{
"uid":443296,
"condition":"See cases",
"start":94202605,
"title":"GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2014-06-16T00:00:00.000Z"
},
"stop":109878834
},
{
"uid":442063,
"condition":"See cases",
"start":97384446,
"title":"GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2016-02-01T00:00:00.000Z"
},
"stop":110247755
},
{
"uid":437828,
"title":"NM_001278716.1(FBXL4):c.*3_*5delTAAinsCAG",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322149,
"stop":99322151
},
{
"uid":437827,
"title":"NM_012160.4(FBXL4):c.*9A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322145,
"stop":99322145
},
{
"uid":437826,
"title":"NM_012160.4(FBXL4):c.*5A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322149,
"stop":99322149
},
{
"uid":437825,
"title":"NM_012160.4(FBXL4):c.*18A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322136,
"stop":99322136
},
{
"uid":437824,
"title":"NM_012160.4(FBXL4):c.*11G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322143,
"stop":99322143
},
{
"uid":437823,
"title":"NM_012160.4(FBXL4):c.*4A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322150,
"stop":99322150
},
{
"uid":437822,
"title":"NM_012160.4(FBXL4):c.1859C>G (p.Thr620Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322161,
"stop":99322161
},
{
"uid":437821,
"title":"NM_012160.4(FBXL4):c.1836del (p.Val613Cysfs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322184,
"stop":99322184
},
{
"uid":437820,
"title":"NM_012160.4(FBXL4):c.1826G>A (p.Ser609Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322194,
"stop":99322194
},
{
"uid":437819,
"title":"NM_012160.4(FBXL4):c.1796A>G (p.Asp599Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322224,
"stop":99322224
},
{
"uid":437818,
"title":"NM_012160.4(FBXL4):c.1788G>A (p.Ser596=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322232,
"stop":99322232
},
{
"uid":437817,
"title":"NM_012160.4(FBXL4):c.1788G>T (p.Ser596=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322232,
"stop":99322232
},
{
"uid":437816,
"title":"NM_012160.4(FBXL4):c.1787C>T (p.Ser596Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322233,
"stop":99322233
},
{
"uid":437815,
"title":"NM_012160.4(FBXL4):c.1779C>T (p.Ser593=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322241,
"stop":99322241
},
{
"uid":437814,
"title":"NM_012160.4(FBXL4):c.1778C>G (p.Ser593Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322242,
"stop":99322242
},
{
"uid":437813,
"title":"NM_012160.4(FBXL4):c.1773T>C (p.Asp591=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322247,
"stop":99322247
},
{
"uid":437812,
"title":"NM_012160.4(FBXL4):c.1772A>C (p.Asp591Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2017-11-16T00:00:00.000Z"
},
"start":99322248,
"stop":99322248
},
{
"uid":437811,
"title":"NM_012160.4(FBXL4):c.1764T>G (p.Ser588=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322256,
"stop":99322256
},
{
"uid":437810,
"title":"NM_012160.4(FBXL4):c.1760T>C (p.Leu587Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322260,
"stop":99322260
},
{
"uid":437809,
"title":"NM_012160.4(FBXL4):c.1751G>T (p.Cys584Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322269,
"stop":99322269
},
{
"uid":437808,
"title":"NM_012160.4(FBXL4):c.1748C>G (p.Ser583Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322272,
"stop":99322272
},
{
"uid":437807,
"title":"NM_012160.4(FBXL4):c.1745A>G (p.Glu582Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322275,
"stop":99322275
},
{
"uid":437806,
"title":"NM_012160.4(FBXL4):c.1745A>C (p.Glu582Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322275,
"stop":99322275
},
{
"uid":437805,
"title":"NM_012160.4(FBXL4):c.1739T>C (p.Leu580Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322281,
"stop":99322281
},
{
"uid":437804,
"title":"NM_012160.4(FBXL4):c.1739T>G (p.Leu580Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322281,
"stop":99322281
},
{
"uid":437803,
"title":"NM_012160.4(FBXL4):c.1729T>C (p.Leu577=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322291,
"stop":99322291
},
{
"uid":437802,
"title":"NM_012160.4(FBXL4):c.1723G>T (p.Ala575Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322297,
"stop":99322297
},
{
"uid":437801,
"title":"NM_012160.4(FBXL4):c.1723G>A (p.Ala575Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322297,
"stop":99322297
},
{
"uid":437800,
"title":"NM_012160.4(FBXL4):c.1722G>A (p.Pro574=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322298,
"stop":99322298
},
{
"uid":437799,
"title":"NM_012160.4(FBXL4):c.1721C>T (p.Pro574Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322299,
"stop":99322299
},
{
"uid":437798,
"title":"NM_012160.4(FBXL4):c.1721C>A (p.Pro574Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322299,
"stop":99322299
},
{
"uid":437797,
"title":"NM_012160.4(FBXL4):c.1713G>A (p.Met571Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322307,
"stop":99322307
},
{
"uid":437796,
"title":"NM_012160.4(FBXL4):c.1703-9C>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322326,
"stop":99322326
},
{
"uid":437795,
"title":"NM_012160.4(FBXL4):c.1703-10C>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322327,
"stop":99322327
},
{
"uid":437794,
"title":"NM_012160.4(FBXL4):c.1703-14T>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322331,
"stop":99322331
},
{
"uid":437793,
"title":"NM_012160.4(FBXL4):c.1702+18A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323273,
"stop":99323273
},
{
"uid":437792,
"title":"NM_012160.4(FBXL4):c.1702+11A>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323280,
"stop":99323280
},
{
"uid":437791,
"title":"NM_012160.4(FBXL4):c.1702+6G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323285,
"stop":99323285
},
{
"uid":437790,
"title":"NM_012160.4(FBXL4):c.1700T>C (p.Leu567Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323293,
"stop":99323293
},
{
"uid":437789,
"title":"NM_012160.4(FBXL4):c.1699T>C (p.Leu567=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323294,
"stop":99323294
},
{
"uid":437788,
"title":"NM_012160.4(FBXL4):c.1689G>A (p.Gln563=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323304,
"stop":99323304
},
{
"uid":437787,
"title":"NM_012160.4(FBXL4):c.1685A>G (p.Gln562Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323308,
"stop":99323308
},
{
"uid":437786,
"title":"NM_012160.4(FBXL4):c.1681T>A (p.Leu561Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323312,
"stop":99323312
},
{
"uid":437785,
"title":"NM_012160.4(FBXL4):c.1672T>G (p.Cys558Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323321,
"stop":99323321
},
{
"uid":437784,
"title":"NM_012160.4(FBXL4):c.1670A>G (p.Asn557Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323323,
"stop":99323323
},
{
"uid":437783,
"title":"NM_012160.4(FBXL4):c.1662G>A (p.Leu554=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323331,
"stop":99323331
},
{
"uid":437782,
"title":"NM_012160.4(FBXL4):c.1656T>C (p.Asp552=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323337,
"stop":99323337
},
{
"uid":437781,
"title":"NM_012160.4(FBXL4):c.1631G>A (p.Arg544Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323362,
"stop":99323362
},
{
"uid":437780,
"title":"NM_012160.4(FBXL4):c.1628A>C (p.Asn543Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323365,
"stop":99323365
},
{
"uid":437779,
"title":"NM_012160.4(FBXL4):c.1626T>G (p.Ala542=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323367,
"stop":99323367
},
{
"uid":437778,
"title":"NM_012160.4(FBXL4):c.1617T>G (p.Phe539Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323376,
"stop":99323376
},
{
"uid":437777,
"title":"NM_012160.4(FBXL4):c.1594C>G (p.Leu532Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323399,
"stop":99323399
},
{
"uid":437776,
"title":"NM_012160.4(FBXL4):c.1592A>G (p.Gln531Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323401,
"stop":99323401
},
{
"uid":437775,
"title":"NM_012160.4(FBXL4):c.1580G>T (p.Arg527Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323413,
"stop":99323413
},
{
"uid":437774,
"title":"NM_012160.4(FBXL4):c.1569G>C (p.Gly523=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323424,
"stop":99323424
},
{
"uid":437773,
"title":"NM_012160.4(FBXL4):c.1567G>A (p.Gly523Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323426,
"stop":99323426
},
{
"uid":437772,
"title":"NM_012160.4(FBXL4):c.1566C>T (p.Thr522=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323427,
"stop":99323427
},
{
"uid":437771,
"title":"NM_012160.4(FBXL4):c.1564A>G (p.Thr522Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323429,
"stop":99323429
},
{
"uid":437770,
"title":"NM_012160.4(FBXL4):c.1553T>G (p.Leu518Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323440,
"stop":99323440
},
{
"uid":437769,
"title":"NM_012160.4(FBXL4):c.1549A>C (p.Thr517Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323444,
"stop":99323444
},
{
"uid":437768,
"title":"NM_012160.4(FBXL4):c.1546C>T (p.Pro516Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323447,
"stop":99323447
},
{
"uid":437767,
"title":"NM_012160.4(FBXL4):c.1533C>A (p.Asp511Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323460,
"stop":99323460
},
{
"uid":437766,
"title":"NM_012160.4(FBXL4):c.1528C>G (p.Leu510Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323465,
"stop":99323465
},
{
"uid":437765,
"title":"NM_012160.4(FBXL4):c.1526A>C (p.Glu509Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323467,
"stop":99323467
},
{
"uid":437764,
"title":"NM_012160.4(FBXL4):c.1518A>G (p.Leu506=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323475,
"stop":99323475
},
{
"uid":437763,
"title":"NM_012160.4(FBXL4):c.1508G>T (p.Gly503Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323485,
"stop":99323485
},
{
"uid":437762,
"title":"NM_012160.4(FBXL4):c.1483A>C (p.Asn495His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323510,
"stop":99323510
},
{
"uid":437761,
"title":"NM_012160.4(FBXL4):c.1468A>G (p.Lys490Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323525,
"stop":99323525
},
{
"uid":437760,
"title":"NM_012160.4(FBXL4):c.1464A>G (p.Arg488=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323529,
"stop":99323529
},
{
"uid":437759,
"title":"NM_012160.4(FBXL4):c.1449C>G (p.Thr483=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323544,
"stop":99323544
},
{
"uid":437758,
"title":"NM_012160.4(FBXL4):c.1445G>A (p.Arg482Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323548,
"stop":99323548
},
{
"uid":437757,
"title":"NM_012160.4(FBXL4):c.1440A>T (p.Lys480Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323553,
"stop":99323553
},
{
"uid":437756,
"title":"NM_012160.4(FBXL4):c.1428C>A (p.Ala476=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323565,
"stop":99323565
},
{
"uid":437755,
"title":"NM_012160.4(FBXL4):c.1422A>G (p.Ile474Met)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323571,
"stop":99323571
},
{
"uid":437754,
"title":"NM_012160.4(FBXL4):c.1400A>G (p.Tyr467Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323593,
"stop":99323593
},
{
"uid":437753,
"title":"NM_012160.4(FBXL4):c.1399T>A (p.Tyr467Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323594,
"stop":99323594
},
{
"uid":437752,
"title":"NM_012160.4(FBXL4):c.1396G>C (p.Asp466His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323597,
"stop":99323597
},
{
"uid":437751,
"title":"NM_012160.4(FBXL4):c.1390A>G (p.Ile464Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323603,
"stop":99323603
},
{
"uid":437750,
"title":"NM_012160.4(FBXL4):c.1390-17A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323620,
"stop":99323620
},
{
"uid":437749,
"title":"NM_012160.4(FBXL4):c.1389+18C>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328411,
"stop":99328411
},
{
"uid":437748,
"title":"NM_012160.4(FBXL4):c.1389+13G>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328416,
"stop":99328416
},
{
"uid":437747,
"title":"NM_012160.4(FBXL4):c.1389+5G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328424,
"stop":99328424
},
{
"uid":437746,
"title":"NM_012160.4(FBXL4):c.1389+4A>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328425,
"stop":99328425
},
{
"uid":437745,
"title":"NM_012160.4(FBXL4):c.1389G>C (p.Met463Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328429,
"stop":99328429
},
{
"uid":437744,
"title":"NM_012160.4(FBXL4):c.1388T>C (p.Met463Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328430,
"stop":99328430
},
{
"uid":437743,
"title":"NM_012160.4(FBXL4):c.1379G>A (p.Ser460Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328439,
"stop":99328439
},
{
"uid":437742,
"title":"NM_012160.4(FBXL4):c.1370G>A (p.Ser457Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328448,
"stop":99328448
},
{
"uid":437741,
"title":"NM_012160.4(FBXL4):c.1360C>T (p.Gln454Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328458,
"stop":99328458
},
{
"uid":437740,
"title":"NM_012160.4(FBXL4):c.1356G>A (p.Glu452=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328462,
"stop":99328462
},
{
"uid":437739,
"title":"NM_012160.4(FBXL4):c.1349G>A (p.Cys450Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328469,
"stop":99328469
},
{
"uid":437738,
"title":"NM_012160.4(FBXL4):c.1344C>T (p.Asn448=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328474,
"stop":99328474
},
{
"uid":437737,
"title":"NM_012160.4(FBXL4):c.1339T>C (p.Leu447=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328479,
"stop":99328479
},
{
"uid":437736,
"title":"NM_012160.4(FBXL4):c.1336A>G (p.Ile446Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328482,
"stop":99328482
},
{
"uid":437735,
"title":"NM_012160.4(FBXL4):c.1318-10C>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328510,
"stop":99328510
},
{
"uid":437734,
"title":"NM_012160.4(FBXL4):c.1318C>G (p.Gln440Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328500,
"stop":99328500
},
{
"uid":437733,
"title":"NM_012160.4(FBXL4):c.1318-10C>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328510,
"stop":99328510
},
{
"uid":437732,
"title":"NM_012160.4(FBXL4):c.1318-15G>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328515,
"stop":99328515
},
{
"uid":437731,
"title":"NM_012160.4(FBXL4):c.1318-16T>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328516,
"stop":99328516
},
{
"uid":437730,
"title":"NM_012160.4(FBXL4):c.1317+19T>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347125,
"stop":99347125
},
{
"uid":437729,
"title":"NM_012160.4(FBXL4):c.1317+17A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347127,
"stop":99347127
},
{
"uid":437728,
"title":"NM_012160.4(FBXL4):c.1317+13C>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347131,
"stop":99347131
},
{
"uid":437727,
"title":"NM_012160.4(FBXL4):c.1311A>G (p.Lys437=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347150,
"stop":99347150
},
{
"uid":437726,
"title":"NM_012160.4(FBXL4):c.1294G>A (p.Val432Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347167,
"stop":99347167
},
{
"uid":437725,
"title":"NM_012160.4(FBXL4):c.1289G>A (p.Arg430Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347172,
"stop":99347172
},
{
"uid":437724,
"title":"NM_012160.4(FBXL4):c.1288C>T (p.Arg430Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347173,
"stop":99347173
},
{
"uid":437723,
"title":"NM_012160.4(FBXL4):c.1285A>G (p.Lys429Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347176,
"stop":99347176
},
{
"uid":437722,
"title":"NM_012160.4(FBXL4):c.1260C>T (p.Asn420=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347201,
"stop":99347201
},
{
"uid":437721,
"title":"NM_012160.4(FBXL4):c.1254T>A (p.Ala418=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347207,
"stop":99347207
},
{
"uid":437720,
"title":"NM_012160.4(FBXL4):c.1252G>A (p.Ala418Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347209,
"stop":99347209
},
{
"uid":437719,
"title":"NM_012160.4(FBXL4):c.1251A>G (p.Gln417=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347210,
"stop":99347210
},
{
"uid":437718,
"title":"NM_012160.4(FBXL4):c.1247C>T (p.Pro416Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347214,
"stop":99347214
},
{
"uid":437717,
"title":"NM_012160.4(FBXL4):c.1244C>T (p.Pro415Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347217,
"stop":99347217
},
{
"uid":437716,
"title":"NM_012160.4(FBXL4):c.1226C>A (p.Ser409Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347235,
"stop":99347235
},
{
"uid":437715,
"title":"NM_012160.4(FBXL4):c.1224C>G (p.Leu408=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347237,
"stop":99347237
},
{
"uid":437714,
"title":"NM_012160.4(FBXL4):c.1214C>A (p.Ala405Asp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347247,
"stop":99347247
},
{
"uid":437713,
"title":"NM_012160.4(FBXL4):c.1213G>A (p.Ala405Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347248,
"stop":99347248
},
{
"uid":437712,
"title":"NM_012160.4(FBXL4):c.1209A>G (p.Leu403=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347252,
"stop":99347252
},
{
"uid":437711,
"title":"NM_012160.4(FBXL4):c.1195A>T (p.Met399Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347266,
"stop":99347266
},
{
"uid":437710,
"title":"NM_012160.4(FBXL4):c.1194G>A (p.Glu398=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347267,
"stop":99347267
},
{
"uid":437709,
"title":"NM_012160.4(FBXL4):c.1190C>A (p.Ser397Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347271,
"stop":99347271
},
{
"uid":437708,
"title":"NM_012160.4(FBXL4):c.1172C>G (p.Thr391Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347289,
"stop":99347289
},
{
"uid":437707,
"title":"NM_012160.4(FBXL4):c.1172C>T (p.Thr391Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347289,
"stop":99347289
},
{
"uid":437706,
"title":"NM_012160.4(FBXL4):c.1166A>G (p.Asn389Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347295,
"stop":99347295
},
{
"uid":437705,
"title":"NM_012160.4(FBXL4):c.1156C>T (p.His386Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347305,
"stop":99347305
},
{
"uid":437704,
"title":"NM_012160.4(FBXL4):c.1153A>G (p.Ser385Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347308,
"stop":99347308
},
{
"uid":437703,
"title":"NM_012160.4(FBXL4):c.1149T>C (p.Ser383=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347312,
"stop":99347312
},
{
"uid":437702,
"title":"NM_012160.4(FBXL4):c.1139T>C (p.Leu380Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347322,
"stop":99347322
},
{
"uid":437701,
"title":"NM_012160.4(FBXL4):c.1136G>A (p.Arg379His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347325,
"stop":99347325
},
{
"uid":437700,
"title":"NM_012160.4(FBXL4):c.1135C>T (p.Arg379Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347326,
"stop":99347326
},
{
"uid":437699,
"title":"NM_012160.4(FBXL4):c.1126G>A (p.Glu376Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347335,
"stop":99347335
},
{
"uid":437698,
"title":"NM_012160.4(FBXL4):c.1125C>T (p.Ser375=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347336,
"stop":99347336
},
{
"uid":437697,
"title":"NM_012160.4(FBXL4):c.1115T>C (p.Val372Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347346,
"stop":99347346
},
{
"uid":437696,
"title":"NM_012160.4(FBXL4):c.1113G>C (p.Lys371Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347348,
"stop":99347348
},
{
"uid":437695,
"title":"NM_012160.4(FBXL4):c.1104-4G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347361,
"stop":99347361
},
{
"uid":437694,
"title":"NM_012160.4(FBXL4):c.1104-4G>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347361,
"stop":99347361
},
{
"uid":437693,
"title":"NM_012160.4(FBXL4):c.1104-13G>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347370,
"stop":99347370
},
{
"uid":437692,
"title":"NM_012160.4(FBXL4):c.1104-19T>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347376,
"stop":99347376
},
{
"uid":437691,
"title":"NM_012160.4(FBXL4):c.1103+13C>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353289,
"stop":99353289
},
{
"uid":437690,
"title":"NM_012160.4(FBXL4):c.1103+13C>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353289,
"stop":99353289
},
{
"uid":437689,
"title":"NM_012160.4(FBXL4):c.1103+12G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353290,
"stop":99353290
},
{
"uid":437688,
"title":"NM_012160.4(FBXL4):c.1103+7A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353295,
"stop":99353295
},
{
"uid":437687,
"title":"NM_012160.4(FBXL4):c.1103G>A (p.Arg368Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353302,
"stop":99353302
},
{
"uid":437686,
"title":"NM_012160.4(FBXL4):c.1087G>T (p.Val363Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353318,
"stop":99353318
},
{
"uid":437685,
"title":"NM_012160.4(FBXL4):c.1083C>T (p.Ile361=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353322,
"stop":99353322
},
{
"uid":437684,
"title":"NM_012160.4(FBXL4):c.1073G>A (p.Arg358Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353332,
"stop":99353332
},
{
"uid":437683,
"title":"NM_012160.4(FBXL4):c.1071T>G (p.Asn357Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353334,
"stop":99353334
},
{
"uid":437682,
"title":"NM_012160.4(FBXL4):c.1070A>G (p.Asn357Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353335,
"stop":99353335
},
{
"uid":437681,
"title":"NM_012160.4(FBXL4):c.1069A>G (p.Asn357Asp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353336,
"stop":99353336
},
{
"uid":437680,
"title":"NM_012160.4(FBXL4):c.1067G>C (p.Gly356Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353338,
"stop":99353338
},
{
"uid":437679,
"title":"NM_012160.4(FBXL4):c.1056A>G (p.Leu352=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353349,
"stop":99353349
},
{
"uid":437678,
"title":"NM_012160.4(FBXL4):c.1056A>T (p.Leu352Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353349,
"stop":99353349
},
{
"uid":437677,
"title":"NM_012160.4(FBXL4):c.1027C>T (p.Arg343Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353378,
"stop":99353378
},
{
"uid":437676,
"title":"NM_012160.4(FBXL4):c.1020A>G (p.Leu340=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353385,
"stop":99353385
},
{
"uid":437675,
"title":"NM_012160.4(FBXL4):c.1011G>T (p.Leu337=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353394,
"stop":99353394
},
{
"uid":437674,
"title":"NM_012160.4(FBXL4):c.1009C>T (p.Leu337=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353396,
"stop":99353396
},
{
"uid":437673,
"title":"NM_012160.4(FBXL4):c.991A>G (p.Lys331Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353414,
"stop":99353414
},
{
"uid":437672,
"title":"NM_012160.4(FBXL4):c.989C>G (p.Ala330Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353416,
"stop":99353416
},
{
"uid":437671,
"title":"NM_012160.4(FBXL4):c.989C>T (p.Ala330Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353416,
"stop":99353416
},
{
"uid":437670,
"title":"NM_012160.4(FBXL4):c.988G>A (p.Ala330Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353417,
"stop":99353417
},
{
"uid":437669,
"title":"NM_012160.4(FBXL4):c.982T>C (p.Tyr328His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353423,
"stop":99353423
},
{
"uid":437668,
"title":"NM_012160.4(FBXL4):c.971A>G (p.Asn324Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353434,
"stop":99353434
},
{
"uid":437667,
"title":"NM_012160.4(FBXL4):c.961A>G (p.Ile321Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353444,
"stop":99353444
},
{
"uid":437666,
"title":"NM_012160.4(FBXL4):c.961A>C (p.Ile321Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353444,
"stop":99353444
},
{
"uid":437665,
"title":"NM_012160.4(FBXL4):c.954G>A (p.Leu318=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353451,
"stop":99353451
},
{
"uid":437664,
"title":"NM_012160.4(FBXL4):c.953T>G (p.Leu318Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353452,
"stop":99353452
},
{
"uid":437663,
"title":"NM_012160.4(FBXL4):c.949C>T (p.Pro317Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353456,
"stop":99353456
},
{
"uid":437662,
"title":"NM_012160.4(FBXL4):c.946G>T (p.Asp316Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353459,
"stop":99353459
},
{
"uid":437661,
"title":"NM_012160.4(FBXL4):c.944G>T (p.Cys315Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353461,
"stop":99353461
},
{
"uid":437660,
"title":"NM_012160.4(FBXL4):c.937C>T (p.His313Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353468,
"stop":99353468
},
{
"uid":437659,
"title":"NM_012160.4(FBXL4):c.936G>A (p.Gln312=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353469,
"stop":99353469
},
{
"uid":437658,
"title":"NM_012160.4(FBXL4):c.933C>G (p.Ser311Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353472,
"stop":99353472
},
{
"uid":437657,
"title":"NM_012160.4(FBXL4):c.923A>G (p.Lys308Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353482,
"stop":99353482
},
{
"uid":437656,
"title":"NM_012160.4(FBXL4):c.919T>C (p.Cys307Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353486,
"stop":99353486
},
{
"uid":437655,
"title":"NM_012160.4(FBXL4):c.913C>G (p.Gln305Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353492,
"stop":99353492
},
{
"uid":437654,
"title":"NM_012160.4(FBXL4):c.906A>G (p.Arg302=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353499,
"stop":99353499
},
{
"uid":437653,
"title":"NM_012160.4(FBXL4):c.904A>G (p.Arg302Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353501,
"stop":99353501
},
{
"uid":437652,
"title":"NM_012160.4(FBXL4):c.903T>A (p.Cys301Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353502,
"stop":99353502
},
{
"uid":437651,
"title":"NM_012160.4(FBXL4):c.901T>C (p.Cys301Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353504,
"stop":99353504
},
{
"uid":437650,
"title":"NM_012160.4(FBXL4):c.893C>T (p.Pro298Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353512,
"stop":99353512
},
{
"uid":437649,
"title":"NM_012160.4(FBXL4):c.891A>G (p.Leu297=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353514,
"stop":99353514
},
{
"uid":437648,
"title":"NM_012160.4(FBXL4):c.879T>C (p.Asn293=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353526,
"stop":99353526
},
{
"uid":437647,
"title":"NM_012160.4(FBXL4):c.874C>G (p.Leu292Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353531,
"stop":99353531
},
{
"uid":437646,
"title":"NM_012160.4(FBXL4):c.872T>C (p.Ile291Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353533,
"stop":99353533
},
{
"uid":437645,
"title":"NM_012160.4(FBXL4):c.871A>G (p.Ile291Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353534,
"stop":99353534
},
{
"uid":437644,
"title":"NM_012160.4(FBXL4):c.859-1G>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353547,
"stop":99353547
},
{
"uid":437643,
"title":"NM_012160.4(FBXL4):c.859-6A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353552,
"stop":99353552
},
{
"uid":437642,
"title":"NM_012160.4(FBXL4):c.849A>C (p.Leu283=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365259,
"stop":99365259
},
{
"uid":437641,
"title":"NM_012160.4(FBXL4):c.834G>A (p.Gly278=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365274,
"stop":99365274
},
{
"uid":437640,
"title":"NM_012160.4(FBXL4):c.822G>T (p.Gly274=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365286,
"stop":99365286
},
{
"uid":437639,
"title":"NM_012160.4(FBXL4):c.818A>G (p.Glu273Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365290,
"stop":99365290
},
{
"uid":437638,
"title":"NM_012160.4(FBXL4):c.814G>A (p.Gly272Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365294,
"stop":99365294
},
{
"uid":437637,
"title":"NM_012160.4(FBXL4):c.813C>T (p.Leu271=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365295,
"stop":99365295
},
{
"uid":437636,
"title":"NM_012160.4(FBXL4):c.782G>A (p.Ser261Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365326,
"stop":99365326
},
{
"uid":437635,
"title":"NM_012160.4(FBXL4):c.776T>C (p.Met259Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365332,
"stop":99365332
},
{
"uid":437634,
"title":"NM_012160.4(FBXL4):c.773G>T (p.Gly258Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365335,
"stop":99365335
},
{
"uid":437633,
"title":"NM_012160.4(FBXL4):c.766G>A (p.Gly256Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365342,
"stop":99365342
},
{
"uid":437632,
"title":"NM_012160.4(FBXL4):c.755C>T (p.Ala252Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365353,
"stop":99365353
},
{
"uid":437631,
"title":"NM_012160.4(FBXL4):c.752A>G (p.Tyr251Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365356,
"stop":99365356
},
{
"uid":437630,
"title":"NM_012160.4(FBXL4):c.749C>T (p.Ala250Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365359,
"stop":99365359
},
{
"uid":437629,
"title":"NM_012160.4(FBXL4):c.747T>C (p.Asp249=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365361,
"stop":99365361
},
{
"uid":437628,
"title":"NM_012160.4(FBXL4):c.747T>A (p.Asp249Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365361,
"stop":99365361
},
{
"uid":437627,
"title":"NM_012160.4(FBXL4):c.744T>C (p.Asp248=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365364,
"stop":99365364
},
{
"uid":437626,
"title":"NM_012160.4(FBXL4):c.737T>C (p.Ile246Thr)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365371,
"stop":99365371
},
{
"uid":437625,
"title":"NM_012160.4(FBXL4):c.736A>G (p.Ile246Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365372,
"stop":99365372
},
{
"uid":437624,
"title":"NM_012160.4(FBXL4):c.735T>C (p.Asp245=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365373,
"stop":99365373
},
{
"uid":437623,
"title":"NM_012160.4(FBXL4):c.731A>G (p.Asn244Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365377,
"stop":99365377
},
{
"uid":437622,
"title":"NM_012160.4(FBXL4):c.730A>G (p.Asn244Asp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365378,
"stop":99365378
},
{
"uid":437621,
"title":"NM_012160.4(FBXL4):c.725A>G (p.Asp242Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365383,
"stop":99365383
},
{
"uid":437620,
"title":"NM_012160.4(FBXL4):c.724G>A (p.Asp242Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365384,
"stop":99365384
},
{
"uid":437619,
"title":"NM_012160.4(FBXL4):c.722T>C (p.Ile241Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365386,
"stop":99365386
},
{
"uid":437618,
"title":"NM_012160.4(FBXL4):c.714T>G (p.Thr238=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365394,
"stop":99365394
},
{
"uid":437617,
"title":"NM_012160.4(FBXL4):c.702T>C (p.Leu234=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365406,
"stop":99365406
},
{
"uid":437616,
"title":"NM_012160.4(FBXL4):c.682G>A (p.Val228Met)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365426,
"stop":99365426
},
{
"uid":437615,
"title":"NM_012160.4(FBXL4):c.676C>T (p.His226Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365432,
"stop":99365432
},
{
"uid":437614,
"title":"NM_012160.4(FBXL4):c.673C>T (p.Leu225=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365435,
"stop":99365435
},
{
"uid":437613,
"title":"NM_012160.4(FBXL4):c.672G>A (p.Val224=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365436,
"stop":99365436
},
{
"uid":437612,
"title":"NM_012160.4(FBXL4):c.668T>G (p.Val223Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365440,
"stop":99365440
},
{
"uid":437611,
"title":"NM_012160.4(FBXL4):c.666A>C (p.Ala222=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365442,
"stop":99365442
},
{
"uid":437610,
"title":"NM_012160.4(FBXL4):c.645A>G (p.Glu215=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365463,
"stop":99365463
},
{
"uid":437609,
"title":"NM_012160.4(FBXL4):c.645A>C (p.Glu215Asp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365463,
"stop":99365463
},
{
"uid":437608,
"title":"NM_012160.4(FBXL4):c.643G>C (p.Glu215Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365465,
"stop":99365465
},
{
"uid":437607,
"title":"NM_012160.4(FBXL4):c.637C>T (p.Leu213Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365471,
"stop":99365471
},
{
"uid":437606,
"title":"NM_012160.4(FBXL4):c.634T>G (p.Ser212Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365474,
"stop":99365474
},
{
"uid":437605,
"title":"NM_012160.4(FBXL4):c.607A>G (p.Asn203Asp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365501,
"stop":99365501
},
{
"uid":437604,
"title":"NM_012160.4(FBXL4):c.601C>T (p.Pro201Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365507,
"stop":99365507
},
{
"uid":437603,
"title":"NM_012160.4(FBXL4):c.590A>C (p.Gln197Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365518,
"stop":99365518
},
{
"uid":437602,
"title":"NM_012160.4(FBXL4):c.570G>C (p.Gln190His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365538,
"stop":99365538
},
{
"uid":437601,
"title":"NM_012160.4(FBXL4):c.567C>A (p.Arg189=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365541,
"stop":99365541
},
{
"uid":437600,
"title":"NM_012160.4(FBXL4):c.566G>T (p.Arg189Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365542,
"stop":99365542
},
{
"uid":437599,
"title":"NM_012160.4(FBXL4):c.565C>T (p.Arg189Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365543,
"stop":99365543
},
{
"uid":437598,
"title":"NM_012160.4(FBXL4):c.559C>A (p.Gln187Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365549,
"stop":99365549
},
{
"uid":437597,
"title":"NM_012160.4(FBXL4):c.558C>G (p.Ser186=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365550,
"stop":99365550
},
{
"uid":437596,
"title":"NM_012160.4(FBXL4):c.547G>C (p.Val183Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365561,
"stop":99365561
},
{
"uid":437595,
"title":"NM_012160.4(FBXL4):c.542C>T (p.Thr181Met)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365566,
"stop":99365566
},
{
"uid":437594,
"title":"NM_012160.4(FBXL4):c.541A>G (p.Thr181Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365567,
"stop":99365567
},
{
"uid":437593,
"title":"NM_012160.4(FBXL4):c.540T>G (p.Pro180=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365568,
"stop":99365568
},
{
"uid":437592,
"title":"NM_012160.4(FBXL4):c.532G>A (p.Glu178Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365576,
"stop":99365576
},
{
"uid":437591,
"title":"NM_012160.4(FBXL4):c.529T>A (p.Ser177Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365579,
"stop":99365579
},
{
"uid":437590,
"title":"NM_012160.4(FBXL4):c.527G>C (p.Trp176Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365581,
"stop":99365581
},
{
"uid":437589,
"title":"NM_012160.4(FBXL4):c.526T>C (p.Trp176Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365582,
"stop":99365582
},
{
"uid":437588,
"title":"NM_012160.4(FBXL4):c.513-13C>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365608,
"stop":99365608
},
{
"uid":437587,
"title":"NM_012160.4(FBXL4):c.513-13C>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365608,
"stop":99365608
},
{
"uid":437586,
"title":"NM_012160.4(FBXL4):c.513-16T>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365611,
"stop":99365611
},
{
"uid":437585,
"title":"NM_012160.4(FBXL4):c.506A>C (p.Glu169Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374359,
"stop":99374359
},
{
"uid":437584,
"title":"NM_012160.4(FBXL4):c.493A>C (p.Asn165His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374372,
"stop":99374372
},
{
"uid":437583,
"title":"NM_012160.4(FBXL4):c.491C>T (p.Pro164Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374374,
"stop":99374374
},
{
"uid":437582,
"title":"NM_012160.4(FBXL4):c.470G>T (p.Cys157Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374395,
"stop":99374395
},
{
"uid":437581,
"title":"NM_012160.4(FBXL4):c.454A>G (p.Ile152Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374411,
"stop":99374411
},
{
"uid":437580,
"title":"NM_012160.4(FBXL4):c.443C>T (p.Pro148Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374422,
"stop":99374422
},
{
"uid":437579,
"title":"NM_012160.4(FBXL4):c.442C>T (p.Pro148Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374423,
"stop":99374423
},
{
"uid":437578,
"title":"NM_012160.4(FBXL4):c.440A>G (p.His147Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374425,
"stop":99374425
},
{
"uid":437577,
"title":"NM_012160.4(FBXL4):c.434C>G (p.Thr145Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374431,
"stop":99374431
},
{
"uid":437576,
"title":"NM_012160.4(FBXL4):c.418G>A (p.Val140Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374447,
"stop":99374447
},
{
"uid":437575,
"title":"NM_012160.4(FBXL4):c.417_418insA (p.Val140Serfs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374447,
"stop":99374448
},
{
"uid":437574,
"title":"NM_012160.4(FBXL4):c.416C>G (p.Ala139Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374449,
"stop":99374449
},
{
"uid":437573,
"title":"NM_012160.4(FBXL4):c.415_416insTT (p.Ala139Valfs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374449,
"stop":99374450
},
{
"uid":437572,
"title":"NM_012160.4(FBXL4):c.405G>C (p.Val135=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374460,
"stop":99374460
},
{
"uid":437571,
"title":"NM_012160.4(FBXL4):c.402G>T (p.Gln134His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374463,
"stop":99374463
},
{
"uid":437570,
"title":"NM_012160.4(FBXL4):c.399A>G (p.Gln133=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374466,
"stop":99374466
},
{
"uid":437569,
"title":"NM_012160.4(FBXL4):c.396A>G (p.Glu132=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374469,
"stop":99374469
},
{
"uid":437568,
"title":"NM_012160.4(FBXL4):c.394G>A (p.Glu132Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374471,
"stop":99374471
},
{
"uid":437567,
"title":"NM_012160.4(FBXL4):c.381G>A (p.Val127=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374484,
"stop":99374484
},
{
"uid":437566,
"title":"NM_012160.4(FBXL4):c.371A>G (p.Gln124Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374494,
"stop":99374494
},
{
"uid":437565,
"title":"NM_012160.4(FBXL4):c.370C>T (p.Gln124Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374495,
"stop":99374495
},
{
"uid":437564,
"title":"NM_012160.4(FBXL4):c.353C>T (p.Pro118Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374512,
"stop":99374512
},
{
"uid":437563,
"title":"NM_012160.4(FBXL4):c.350C>T (p.Thr117Met)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374515,
"stop":99374515
},
{
"uid":437562,
"title":"NM_012160.4(FBXL4):c.335T>G (p.Leu112Trp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374530,
"stop":99374530
},
{
"uid":437561,
"title":"NM_012160.4(FBXL4):c.332C>T (p.Ser111Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374533,
"stop":99374533
},
{
"uid":437560,
"title":"NM_012160.4(FBXL4):c.300T>C (p.Tyr100=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374565,
"stop":99374565
},
{
"uid":437559,
"title":"NM_012160.4(FBXL4):c.293G>A (p.Arg98Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374572,
"stop":99374572
},
{
"uid":437558,
"title":"NM_012160.4(FBXL4):c.252A>G (p.Val84=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374613,
"stop":99374613
},
{
"uid":437557,
"title":"NM_012160.4(FBXL4):c.249T>G (p.Asn83Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374616,
"stop":99374616
},
{
"uid":437556,
"title":"NM_012160.4(FBXL4):c.249T>C (p.Asn83=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374616,
"stop":99374616
},
{
"uid":437555,
"title":"NM_012160.4(FBXL4):c.230A>G (p.Asn77Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374635,
"stop":99374635
},
{
"uid":437554,
"title":"NM_012160.4(FBXL4):c.221C>G (p.Thr74Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374644,
"stop":99374644
},
{
"uid":437553,
"title":"NM_012160.4(FBXL4):c.219T>C (p.Tyr73=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374646,
"stop":99374646
},
{
"uid":437552,
"title":"NM_012160.4(FBXL4):c.216C>T (p.Ser72=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374649,
"stop":99374649
},
{
"uid":437551,
"title":"NM_012160.4(FBXL4):c.209G>A (p.Ser70Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374656,
"stop":99374656
},
{
"uid":437550,
"title":"NM_012160.4(FBXL4):c.201T>G (p.Ser67Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374664,
"stop":99374664
},
{
"uid":437549,
"title":"NM_012160.4(FBXL4):c.194A>G (p.Tyr65Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374671,
"stop":99374671
},
{
"uid":437548,
"title":"NM_012160.4(FBXL4):c.176T>G (p.Val59Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374689,
"stop":99374689
},
{
"uid":437547,
"title":"NM_012160.4(FBXL4):c.167A>G (p.Lys56Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374698,
"stop":99374698
},
{
"uid":437546,
"title":"NM_012160.4(FBXL4):c.158A>T (p.Gln53Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374707,
"stop":99374707
},
{
"uid":437545,
"title":"NM_012160.4(FBXL4):c.137C>T (p.Pro46Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374728,
"stop":99374728
},
{
"uid":437544,
"title":"NM_012160.4(FBXL4):c.137C>G (p.Pro46Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374728,
"stop":99374728
},
{
"uid":437543,
"title":"NM_012160.4(FBXL4):c.135C>T (p.Ser45=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374730,
"stop":99374730
},
{
"uid":437542,
"title":"NM_012160.4(FBXL4):c.131C>A (p.Thr44Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374734,
"stop":99374734
},
{
"uid":437541,
"title":"NM_012160.4(FBXL4):c.130A>T (p.Thr44Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374735,
"stop":99374735
},
{
"uid":437540,
"title":"NM_012160.4(FBXL4):c.129G>C (p.Gln43His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374736,
"stop":99374736
},
{
"uid":437539,
"title":"NM_012160.4(FBXL4):c.125G>A (p.Ser42Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374740,
"stop":99374740
},
{
"uid":437538,
"title":"NM_012160.4(FBXL4):c.112A>G (p.Ile38Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374753,
"stop":99374753
},
{
"uid":437537,
"title":"NM_012160.4(FBXL4):c.109G>A (p.Ala37Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374756,
"stop":99374756
},
{
"uid":437536,
"title":"NM_012160.4(FBXL4):c.105T>C (p.His35=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374760,
"stop":99374760
},
{
"uid":437535,
"title":"NM_012160.4(FBXL4):c.104A>G (p.His35Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374761,
"stop":99374761
},
{
"uid":437534,
"title":"NM_012160.4(FBXL4):c.103C>T (p.His35Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374762,
"stop":99374762
},
{
"uid":437533,
"title":"NM_012160.4(FBXL4):c.91A>G (p.Met31Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374774,
"stop":99374774
},
{
"uid":437532,
"title":"NM_012160.4(FBXL4):c.87A>G (p.Gly29=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374778,
"stop":99374778
},
{
"uid":437531,
"title":"NM_012160.4(FBXL4):c.79A>G (p.Thr27Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374786,
"stop":99374786
},
{
"uid":437530,
"title":"NM_012160.4(FBXL4):c.78T>C (p.Ala26=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374787,
"stop":99374787
},
{
"uid":437529,
"title":"NM_012160.4(FBXL4):c.70A>G (p.Arg24Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374795,
"stop":99374795
},
{
"uid":437528,
"title":"NM_012160.4(FBXL4):c.65G>A (p.Arg22Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374800,
"stop":99374800
},
{
"uid":437527,
"title":"NM_012160.4(FBXL4):c.65G>C (p.Arg22Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374800,
"stop":99374800
},
{
"uid":437526,
"title":"NM_012160.4(FBXL4):c.62G>A (p.Arg21His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374803,
"stop":99374803
},
{
"uid":437525,
"title":"NM_012160.4(FBXL4):c.61C>T (p.Arg21Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374804,
"stop":99374804
},
{
"uid":437524,
"title":"NM_012160.4(FBXL4):c.58C>T (p.Arg20Trp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374807,
"stop":99374807
},
{
"uid":437523,
"title":"NM_012160.4(FBXL4):c.49A>G (p.Ile17Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374816,
"stop":99374816
},
{
"uid":437522,
"title":"NM_012160.4(FBXL4):c.49A>T (p.Ile17Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374816,
"stop":99374816
},
{
"uid":437521,
"title":"NM_012160.4(FBXL4):c.48T>C (p.Tyr16=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374817,
"stop":99374817
},
{
"uid":437520,
"title":"NM_012160.4(FBXL4):c.46T>C (p.Tyr16His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374819,
"stop":99374819
},
{
"uid":437519,
"title":"NM_012160.4(FBXL4):c.45T>C (p.Tyr15=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374820,
"stop":99374820
},
{
"uid":437518,
"title":"NM_012160.4(FBXL4):c.36C>G (p.Thr12=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374829,
"stop":99374829
},
{
"uid":437517,
"title":"NM_012160.4(FBXL4):c.35C>T (p.Thr12Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374830,
"stop":99374830
},
{
"uid":437516,
"title":"NM_012160.4(FBXL4):c.33G>A (p.Leu11=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374832,
"stop":99374832
},
{
"uid":437515,
"title":"NM_012160.4(FBXL4):c.23T>C (p.Leu8Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374842,
"stop":99374842
},
{
"uid":437514,
"title":"NM_012160.4(FBXL4):c.20T>C (p.Met7Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374845,
"stop":99374845
},
{
"uid":437513,
"title":"NM_012160.4(FBXL4):c.18C>T (p.Pro6=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374847,
"stop":99374847
},
{
"uid":437512,
"title":"NM_012160.4(FBXL4):c.16_18del (p.Pro6del)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374847,
"stop":99374849
},
{
"uid":437511,
"title":"NM_012160.4(FBXL4):c.15T>A (p.Phe5Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374850,
"stop":99374850
},
{
"uid":437510,
"title":"NM_012160.4(FBXL4):c.9G>A (p.Pro3=)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374856,
"stop":99374856
},
{
"uid":437509,
"title":"NM_012160.4(FBXL4):c.8C>T (p.Pro3Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374857,
"stop":99374857
},
{
"uid":437508,
"title":"NM_012160.4(FBXL4):c.6A>G (p.Ser2=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374859,
"stop":99374859
},
{
"uid":437507,
"title":"NM_012160.4(FBXL4):c.3G>A (p.Met1Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374862,
"stop":99374862
},
{
"uid":437506,
"title":"NM_012160.4(FBXL4):c.-16C>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374880,
"stop":99374880
},
{
"uid":437505,
"title":"NM_012160.4(FBXL4):c.1389+3_1389+6del",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328423,
"stop":99328426
},
{
"uid":437504,
"title":"NM_012160.4(FBXL4):c.-15A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374879,
"stop":99374879
},
{
"uid":437503,
"title":"NM_012160.4(FBXL4):c.1317G>A (p.Glu439=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347144,
"stop":99347144
},
{
"uid":437502,
"title":"NM_012160.4(FBXL4):c.858+1G>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365249,
"stop":99365249
},
{
"uid":437501,
"title":"NM_012160.4(FBXL4):c.858+5G>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365245,
"stop":99365245
},
{
"uid":437500,
"title":"NM_012160.4(FBXL4):c.513-1G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365596,
"stop":99365596
},
{
"uid":437499,
"title":"NM_012160.4(FBXL4):c.1648_1649del (p.Asp550Hisfs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-12-03T00:00:00.000Z"
},
"start":99323344,
"stop":99323345
},
{
"uid":437498,
"title":"NM_012160.4(FBXL4):c.1067delG (p.Gly356Alafs)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2018-05-21T00:00:00.000Z"
},
"start":99353338,
"stop":99353338
},
{
"uid":437496,
"title":"NM_012160.4(FBXL4):c.326del (p.Ser109Metfs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374539,
"stop":99374539
},
{
"uid":437495,
"title":"NM_012160.4(FBXL4):c.273_277del (p.Phe91Leufs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374588,
"stop":99374592
},
{
"uid":437494,
"title":"NM_012160.4(FBXL4):c.1687C>T (p.Gln563Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323306,
"stop":99323306
},
{
"uid":437493,
"title":"NM_012160.4(FBXL4):c.1210C>T (p.Gln404Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347251,
"stop":99347251
},
{
"uid":437492,
"title":"NM_012160.4(FBXL4):c.616C>T (p.Arg206Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365492,
"stop":99365492
},
{
"uid":437491,
"title":"NM_012160.4(FBXL4):c.316C>T (p.Gln106Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-11-16T00:00:00.000Z"
},
"start":99374549,
"stop":99374549
},
{
"uid":437490,
"title":"NM_012160.4(FBXL4):c.292C>T (p.Arg98Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374573,
"stop":99374573
},
{
"uid":437489,
"title":"NM_012160.4(FBXL4):c.219T>A (p.Tyr73Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374646,
"stop":99374646
},
{
"uid":437488,
"title":"NM_012160.4(FBXL4):c.106A>T (p.Arg36Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374759,
"stop":99374759
},
{
"uid":437487,
"title":"NM_012160.4(FBXL4):c.1838T>A (p.Val613Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322182,
"stop":99322182
},
{
"uid":437486,
"title":"NM_012160.4(FBXL4):c.1790A>C (p.Gln597Pro)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2018-05-23T00:00:00.000Z"
},
"start":99322230,
"stop":99322230
},
{
"uid":437485,
"title":"NM_012160.4(FBXL4):c.1772A>G (p.Asp591Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322248,
"stop":99322248
},
{
"uid":437484,
"title":"NM_012160.4(FBXL4):c.1750T>C (p.Cys584Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322270,
"stop":99322270
},
{
"uid":437483,
"title":"NM_012160.4(FBXL4):c.1698A>G (p.Ile566Met)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323295,
"stop":99323295
},
{
"uid":437482,
"title":"NM_012160.4(FBXL4):c.1652T>A (p.Ile551Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323341,
"stop":99323341
},
{
"uid":437481,
"title":"NM_012160.4(FBXL4):c.1622C>T (p.Thr541Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323371,
"stop":99323371
},
{
"uid":437480,
"title":"NM_012160.4(FBXL4):c.1586C>A (p.Ala529Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323407,
"stop":99323407
},
{
"uid":437479,
"title":"NM_012160.4(FBXL4):c.1540T>G (p.Trp514Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Likely pathogenic",
"lastEvaluated":"2017-11-16T00:00:00.000Z"
},
"start":99323453,
"stop":99323453
},
{
"uid":437478,
"title":"NM_012160.4(FBXL4):c.1411G>A (p.Ala471Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323582,
"stop":99323582
},
{
"uid":437477,
"title":"NM_012160.4(FBXL4):c.1361A>C (p.Gln454Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328457,
"stop":99328457
},
{
"uid":437476,
"title":"NM_012160.4(FBXL4):c.1304G>T (p.Arg435Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347157,
"stop":99347157
},
{
"uid":437475,
"title":"NM_012160.4(FBXL4):c.1232G>A (p.Cys411Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Likely pathogenic",
"lastEvaluated":"2018-10-31T00:00:00.000Z"
},
"start":99347229,
"stop":99347229
},
{
"uid":437474,
"title":"NM_012160.4(FBXL4):c.1229C>T (p.Ser410Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347232,
"stop":99347232
},
{
"uid":437473,
"title":"NM_012160.4(FBXL4):c.662A>T (p.Asp221Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365446,
"stop":99365446
},
{
"uid":437472,
"title":"NM_012160.4(FBXL4):c.661G>C (p.Asp221His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365447,
"stop":99365447
},
{
"uid":437471,
"title":"NM_012160.4(FBXL4):c.614T>C (p.Ile205Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365494,
"stop":99365494
},
{
"uid":437470,
"title":"NM_012160.4(FBXL4):c.445G>A (p.Gly149Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374420,
"stop":99374420
},
{
"uid":430470,
"title":"NM_012160.4(FBXL4):c.1304G>A (p.Arg435Gln)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic/Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347157,
"stop":99347157
},
{
"uid":419943,
"title":"NM_012160.4(FBXL4):c.1703-16_1703-12dup",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely benign",
"lastEvaluated":"2017-03-28T00:00:00.000Z"
},
"start":99322329,
"stop":99322333
},
{
"uid":397014,
"title":"GRCh37/hg19 6q16.1(chr6:99331183-99393661)x1",
"condition":"See cases",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Uncertain significance",
"lastEvaluated":null
},
"start":99331183,
"stop":99393661
},
{
"uid":396191,
"condition":"See cases",
"start":85988428,
"title":"GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":null
},
"stop":120548687
},
{
"uid":396129,
"condition":"See cases",
"start":92576950,
"title":"GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":null
},
"stop":104658245
},
{
"uid":395806,
"condition":"See cases",
"start":99283597,
"title":"GRCh37/hg19 6q16.1-16.3(chr6:99283597-100910572)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Uncertain significance",
"lastEvaluated":null
},
"stop":100910572
},
{
"uid":389412,
"title":"NM_012160.4(FBXL4):c.1353A>G (p.Ser451=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328465,
"stop":99328465
},
{
"uid":389040,
"title":"NM_012160.4(FBXL4):c.351G>A (p.Thr117=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374514,
"stop":99374514
},
{
"uid":384777,
"title":"NM_012160.4(FBXL4):c.1317+14A>G",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2017-09-15T00:00:00.000Z"
},
"start":99347130,
"stop":99347130
},
{
"uid":382986,
"title":"NM_012160.4(FBXL4):c.429A>G (p.Leu143=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Likely benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374436,
"stop":99374436
},
{
"uid":381422,
"title":"NM_012160.4(FBXL4):c.*3T>C",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322151,
"stop":99322151
},
{
"uid":380510,
"title":"NM_012160.4(FBXL4):c.978A>G (p.Gln326=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353427,
"stop":99353427
},
{
"uid":380454,
"title":"NM_012160.4(FBXL4):c.468T>C (p.Ala156=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign/Likely benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374397,
"stop":99374397
},
{
"uid":375387,
"title":"NM_012160.4(FBXL4):c.419T>C (p.Val140Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374446,
"stop":99374446
},
{
"uid":373158,
"title":"NM_012160.4(FBXL4):c.1025C>G (p.Ser342Cys)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353380,
"stop":99353380
},
{
"uid":280414,
"title":"NM_012160.3(FBXL4):c.618_621dupACTG",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2018-12-07T00:00:00.000Z"
},
"start":99365487,
"stop":99365490
},
{
"uid":265143,
"title":"NM_012160.4(FBXL4):c.1641_1642del (p.Cys547Terfs)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323351,
"stop":99323352
},
{
"uid":260209,
"title":"NM_012160.4(FBXL4):c.465C>T (p.Leu155=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374400,
"stop":99374400
},
{
"uid":260208,
"title":"NM_012160.4(FBXL4):c.1569G>A (p.Gly523=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323424,
"stop":99323424
},
{
"uid":260207,
"title":"NM_012160.4(FBXL4):c.105T>A (p.His35Gln)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374760,
"stop":99374760
},
{
"uid":235778,
"title":"NM_012160.4(FBXL4):c.1546_1563del (p.Pro516_Ser521del)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323430,
"stop":99323447
},
{
"uid":235493,
"title":"NM_001278716.1(FBXL4):c.1440_1441insA (p.Leu481Thrfs)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2016-04-29T00:00:00.000Z"
},
"start":99323553,
"stop":99323553
},
{
"uid":224911,
"title":"NM_012160.4(FBXL4):c.1442T>C (p.Leu481Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323551,
"stop":99323551
},
{
"uid":209153,
"title":"NM_012160.4(FBXL4):c.64C>T (p.Arg22Ter)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-11-07T00:00:00.000Z"
},
"start":99374801,
"stop":99374801
},
{
"uid":154571,
"condition":"See cases",
"start":99218523,
"title":"GRCh38/hg38 6q16.1-16.2(chr6:98770647-99813111)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Uncertain significance",
"lastEvaluated":"2010-10-19T00:00:00.000Z"
},
"stop":100260987
},
{
"uid":150937,
"condition":"See cases",
"start":75092523,
"title":"GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2011-07-05T00:00:00.000Z"
},
"stop":142361637
},
{
"uid":150641,
"condition":"See cases",
"start":97057870,
"title":"GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2011-08-02T00:00:00.000Z"
},
"stop":122482694
},
{
"uid":66094,
"title":"NM_012160.4(FBXL4):c.1694A>G (p.Asp565Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323299,
"stop":99323299
},
{
"uid":66093,
"title":"NM_012160.4(FBXL4):c.1444C>T (p.Arg482Trp)",
"condition":"Mitochondrial encephalomyopathy",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic/Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323549,
"stop":99323549
},
{
"uid":66092,
"title":"NM_012160.4(FBXL4):c.1703G>C (p.Gly568Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic/Likely pathogenic",
"lastEvaluated":"2017-11-16T00:00:00.000Z"
},
"start":99322317,
"stop":99322317
},
{
"uid":66091,
"title":"NM_012160.4(FBXL4):c.1303C>T (p.Arg435Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347158,
"stop":99347158
},
{
"uid":66090,
"title":"NM_012160.4(FBXL4):c.1555C>T (p.Gln519Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323438,
"stop":99323438
},
{
"uid":58440,
"condition":"See cases",
"start":99116405,
"title":"GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2011-08-12T00:00:00.000Z"
},
"stop":101714826
},
{
"uid":58439,
"condition":"See cases",
"start":98301652,
"title":"GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2011-08-12T00:00:00.000Z"
},
"stop":103028472
}
]
Get ClinVar variant information
get
get /clinvar/gene/variant/:variant
HTTP status code 200
Body
Media type: application/json
Type: object
Properties- uid: required(number)
- title: required(string)
- start: required(number)
Variant start position
- stop: required(number)
Variant stop position
- significance: required(object)
- description: required(string)
- reviewStatus: (string)
- lastEvaluated: (string)
- condition: required(string)
Example:
[
{
"uid":608768,
"title":"GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3",
"stop":170919470,
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2014-10-31T00:00:00.000Z"
},
"start":165632,
"condition":"not provided"
},
{
"uid":608767,
"title":"GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3",
"stop":170980171,
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2017-01-05T00:00:00.000Z"
},
"start":108666,
"condition":"not provided"
},
{
"uid":608764,
"title":"GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3",
"stop":171054786,
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2013-01-01T00:00:00.000Z"
},
"start":60107,
"condition":"not provided"
},
{
"uid":563209,
"title":"GRCh37/hg19 6q16.1(chr6:98870687-99356722)x1",
"condition":"not provided",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Uncertain significance",
"lastEvaluated":"2017-11-10T00:00:00.000Z"
},
"start":98870687,
"stop":99356722
},
{
"uid":563204,
"condition":"not provided",
"start":95549951,
"title":"GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2017-08-25T00:00:00.000Z"
},
"stop":116684929
},
{
"uid":559353,
"title":"NM_012160.4(FBXL4):c.1103+30del",
"condition":"not provided",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Benign",
"lastEvaluated":"2016-03-08T00:00:00.000Z"
},
"start":99353272,
"stop":99353272
},
{
"uid":559352,
"title":"NM_012160.4(FBXL4):c.1103+30T>C",
"condition":"not provided",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Benign",
"lastEvaluated":"2016-02-29T00:00:00.000Z"
},
"start":99353272,
"stop":99353272
},
{
"uid":545084,
"title":"NM_001278716.1(FBXL4):c.1607A>C (p.Gln536Pro)",
"condition":"not provided",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Likely pathogenic",
"lastEvaluated":"2017-07-27T00:00:00.000Z"
},
"start":99323386,
"stop":99323386
},
{
"uid":520628,
"title":"NM_012160.4(FBXL4):c.827delA (p.Asn276Ilefs)",
"condition":"Inborn genetic diseases",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2015-03-13T00:00:00.000Z"
},
"start":99365281,
"stop":99365281
},
{
"uid":516975,
"title":"NM_012160.4(FBXL4):c.-69A>G",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely benign",
"lastEvaluated":"2017-09-28T00:00:00.000Z"
},
"start":99374933,
"stop":99374933
},
{
"uid":512559,
"title":"NM_012160.4(FBXL4):c.273T>C (p.Phe91=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely benign",
"lastEvaluated":"2017-10-19T00:00:00.000Z"
},
"start":99374592,
"stop":99374592
},
{
"uid":444694,
"title":"NM_001278716.1(FBXL4):c.218A>G (p.Tyr73Cys)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-02-28T00:00:00.000Z"
},
"start":99374647,
"stop":99374647
},
{
"uid":443497,
"title":"GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)",
"stop":170919482,
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2015-07-14T00:00:00.000Z"
},
"start":156975,
"condition":"See cases"
},
{
"uid":443496,
"title":"GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3",
"stop":170919482,
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2014-12-02T00:00:00.000Z"
},
"start":156975,
"condition":"See cases"
},
{
"uid":443296,
"condition":"See cases",
"start":94202605,
"title":"GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2014-06-16T00:00:00.000Z"
},
"stop":109878834
},
{
"uid":442063,
"condition":"See cases",
"start":97384446,
"title":"GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2016-02-01T00:00:00.000Z"
},
"stop":110247755
},
{
"uid":437828,
"title":"NM_001278716.1(FBXL4):c.*3_*5delTAAinsCAG",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322149,
"stop":99322151
},
{
"uid":437827,
"title":"NM_012160.4(FBXL4):c.*9A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322145,
"stop":99322145
},
{
"uid":437826,
"title":"NM_012160.4(FBXL4):c.*5A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322149,
"stop":99322149
},
{
"uid":437825,
"title":"NM_012160.4(FBXL4):c.*18A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322136,
"stop":99322136
},
{
"uid":437824,
"title":"NM_012160.4(FBXL4):c.*11G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322143,
"stop":99322143
},
{
"uid":437823,
"title":"NM_012160.4(FBXL4):c.*4A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322150,
"stop":99322150
},
{
"uid":437822,
"title":"NM_012160.4(FBXL4):c.1859C>G (p.Thr620Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322161,
"stop":99322161
},
{
"uid":437821,
"title":"NM_012160.4(FBXL4):c.1836del (p.Val613Cysfs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322184,
"stop":99322184
},
{
"uid":437820,
"title":"NM_012160.4(FBXL4):c.1826G>A (p.Ser609Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322194,
"stop":99322194
},
{
"uid":437819,
"title":"NM_012160.4(FBXL4):c.1796A>G (p.Asp599Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322224,
"stop":99322224
},
{
"uid":437818,
"title":"NM_012160.4(FBXL4):c.1788G>A (p.Ser596=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322232,
"stop":99322232
},
{
"uid":437817,
"title":"NM_012160.4(FBXL4):c.1788G>T (p.Ser596=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322232,
"stop":99322232
},
{
"uid":437816,
"title":"NM_012160.4(FBXL4):c.1787C>T (p.Ser596Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322233,
"stop":99322233
},
{
"uid":437815,
"title":"NM_012160.4(FBXL4):c.1779C>T (p.Ser593=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322241,
"stop":99322241
},
{
"uid":437814,
"title":"NM_012160.4(FBXL4):c.1778C>G (p.Ser593Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322242,
"stop":99322242
},
{
"uid":437813,
"title":"NM_012160.4(FBXL4):c.1773T>C (p.Asp591=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322247,
"stop":99322247
},
{
"uid":437812,
"title":"NM_012160.4(FBXL4):c.1772A>C (p.Asp591Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2017-11-16T00:00:00.000Z"
},
"start":99322248,
"stop":99322248
},
{
"uid":437811,
"title":"NM_012160.4(FBXL4):c.1764T>G (p.Ser588=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322256,
"stop":99322256
},
{
"uid":437810,
"title":"NM_012160.4(FBXL4):c.1760T>C (p.Leu587Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322260,
"stop":99322260
},
{
"uid":437809,
"title":"NM_012160.4(FBXL4):c.1751G>T (p.Cys584Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322269,
"stop":99322269
},
{
"uid":437808,
"title":"NM_012160.4(FBXL4):c.1748C>G (p.Ser583Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322272,
"stop":99322272
},
{
"uid":437807,
"title":"NM_012160.4(FBXL4):c.1745A>G (p.Glu582Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322275,
"stop":99322275
},
{
"uid":437806,
"title":"NM_012160.4(FBXL4):c.1745A>C (p.Glu582Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322275,
"stop":99322275
},
{
"uid":437805,
"title":"NM_012160.4(FBXL4):c.1739T>C (p.Leu580Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322281,
"stop":99322281
},
{
"uid":437804,
"title":"NM_012160.4(FBXL4):c.1739T>G (p.Leu580Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322281,
"stop":99322281
},
{
"uid":437803,
"title":"NM_012160.4(FBXL4):c.1729T>C (p.Leu577=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322291,
"stop":99322291
},
{
"uid":437802,
"title":"NM_012160.4(FBXL4):c.1723G>T (p.Ala575Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322297,
"stop":99322297
},
{
"uid":437801,
"title":"NM_012160.4(FBXL4):c.1723G>A (p.Ala575Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322297,
"stop":99322297
},
{
"uid":437800,
"title":"NM_012160.4(FBXL4):c.1722G>A (p.Pro574=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322298,
"stop":99322298
},
{
"uid":437799,
"title":"NM_012160.4(FBXL4):c.1721C>T (p.Pro574Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322299,
"stop":99322299
},
{
"uid":437798,
"title":"NM_012160.4(FBXL4):c.1721C>A (p.Pro574Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322299,
"stop":99322299
},
{
"uid":437797,
"title":"NM_012160.4(FBXL4):c.1713G>A (p.Met571Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322307,
"stop":99322307
},
{
"uid":437796,
"title":"NM_012160.4(FBXL4):c.1703-9C>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322326,
"stop":99322326
},
{
"uid":437795,
"title":"NM_012160.4(FBXL4):c.1703-10C>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322327,
"stop":99322327
},
{
"uid":437794,
"title":"NM_012160.4(FBXL4):c.1703-14T>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322331,
"stop":99322331
},
{
"uid":437793,
"title":"NM_012160.4(FBXL4):c.1702+18A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323273,
"stop":99323273
},
{
"uid":437792,
"title":"NM_012160.4(FBXL4):c.1702+11A>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323280,
"stop":99323280
},
{
"uid":437791,
"title":"NM_012160.4(FBXL4):c.1702+6G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323285,
"stop":99323285
},
{
"uid":437790,
"title":"NM_012160.4(FBXL4):c.1700T>C (p.Leu567Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323293,
"stop":99323293
},
{
"uid":437789,
"title":"NM_012160.4(FBXL4):c.1699T>C (p.Leu567=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323294,
"stop":99323294
},
{
"uid":437788,
"title":"NM_012160.4(FBXL4):c.1689G>A (p.Gln563=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323304,
"stop":99323304
},
{
"uid":437787,
"title":"NM_012160.4(FBXL4):c.1685A>G (p.Gln562Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323308,
"stop":99323308
},
{
"uid":437786,
"title":"NM_012160.4(FBXL4):c.1681T>A (p.Leu561Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323312,
"stop":99323312
},
{
"uid":437785,
"title":"NM_012160.4(FBXL4):c.1672T>G (p.Cys558Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323321,
"stop":99323321
},
{
"uid":437784,
"title":"NM_012160.4(FBXL4):c.1670A>G (p.Asn557Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323323,
"stop":99323323
},
{
"uid":437783,
"title":"NM_012160.4(FBXL4):c.1662G>A (p.Leu554=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323331,
"stop":99323331
},
{
"uid":437782,
"title":"NM_012160.4(FBXL4):c.1656T>C (p.Asp552=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323337,
"stop":99323337
},
{
"uid":437781,
"title":"NM_012160.4(FBXL4):c.1631G>A (p.Arg544Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323362,
"stop":99323362
},
{
"uid":437780,
"title":"NM_012160.4(FBXL4):c.1628A>C (p.Asn543Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323365,
"stop":99323365
},
{
"uid":437779,
"title":"NM_012160.4(FBXL4):c.1626T>G (p.Ala542=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323367,
"stop":99323367
},
{
"uid":437778,
"title":"NM_012160.4(FBXL4):c.1617T>G (p.Phe539Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323376,
"stop":99323376
},
{
"uid":437777,
"title":"NM_012160.4(FBXL4):c.1594C>G (p.Leu532Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323399,
"stop":99323399
},
{
"uid":437776,
"title":"NM_012160.4(FBXL4):c.1592A>G (p.Gln531Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323401,
"stop":99323401
},
{
"uid":437775,
"title":"NM_012160.4(FBXL4):c.1580G>T (p.Arg527Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323413,
"stop":99323413
},
{
"uid":437774,
"title":"NM_012160.4(FBXL4):c.1569G>C (p.Gly523=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323424,
"stop":99323424
},
{
"uid":437773,
"title":"NM_012160.4(FBXL4):c.1567G>A (p.Gly523Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323426,
"stop":99323426
},
{
"uid":437772,
"title":"NM_012160.4(FBXL4):c.1566C>T (p.Thr522=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323427,
"stop":99323427
},
{
"uid":437771,
"title":"NM_012160.4(FBXL4):c.1564A>G (p.Thr522Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323429,
"stop":99323429
},
{
"uid":437770,
"title":"NM_012160.4(FBXL4):c.1553T>G (p.Leu518Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323440,
"stop":99323440
},
{
"uid":437769,
"title":"NM_012160.4(FBXL4):c.1549A>C (p.Thr517Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323444,
"stop":99323444
},
{
"uid":437768,
"title":"NM_012160.4(FBXL4):c.1546C>T (p.Pro516Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323447,
"stop":99323447
},
{
"uid":437767,
"title":"NM_012160.4(FBXL4):c.1533C>A (p.Asp511Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323460,
"stop":99323460
},
{
"uid":437766,
"title":"NM_012160.4(FBXL4):c.1528C>G (p.Leu510Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323465,
"stop":99323465
},
{
"uid":437765,
"title":"NM_012160.4(FBXL4):c.1526A>C (p.Glu509Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323467,
"stop":99323467
},
{
"uid":437764,
"title":"NM_012160.4(FBXL4):c.1518A>G (p.Leu506=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323475,
"stop":99323475
},
{
"uid":437763,
"title":"NM_012160.4(FBXL4):c.1508G>T (p.Gly503Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323485,
"stop":99323485
},
{
"uid":437762,
"title":"NM_012160.4(FBXL4):c.1483A>C (p.Asn495His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323510,
"stop":99323510
},
{
"uid":437761,
"title":"NM_012160.4(FBXL4):c.1468A>G (p.Lys490Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323525,
"stop":99323525
},
{
"uid":437760,
"title":"NM_012160.4(FBXL4):c.1464A>G (p.Arg488=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323529,
"stop":99323529
},
{
"uid":437759,
"title":"NM_012160.4(FBXL4):c.1449C>G (p.Thr483=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323544,
"stop":99323544
},
{
"uid":437758,
"title":"NM_012160.4(FBXL4):c.1445G>A (p.Arg482Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323548,
"stop":99323548
},
{
"uid":437757,
"title":"NM_012160.4(FBXL4):c.1440A>T (p.Lys480Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323553,
"stop":99323553
},
{
"uid":437756,
"title":"NM_012160.4(FBXL4):c.1428C>A (p.Ala476=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323565,
"stop":99323565
},
{
"uid":437755,
"title":"NM_012160.4(FBXL4):c.1422A>G (p.Ile474Met)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323571,
"stop":99323571
},
{
"uid":437754,
"title":"NM_012160.4(FBXL4):c.1400A>G (p.Tyr467Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323593,
"stop":99323593
},
{
"uid":437753,
"title":"NM_012160.4(FBXL4):c.1399T>A (p.Tyr467Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323594,
"stop":99323594
},
{
"uid":437752,
"title":"NM_012160.4(FBXL4):c.1396G>C (p.Asp466His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323597,
"stop":99323597
},
{
"uid":437751,
"title":"NM_012160.4(FBXL4):c.1390A>G (p.Ile464Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323603,
"stop":99323603
},
{
"uid":437750,
"title":"NM_012160.4(FBXL4):c.1390-17A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323620,
"stop":99323620
},
{
"uid":437749,
"title":"NM_012160.4(FBXL4):c.1389+18C>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328411,
"stop":99328411
},
{
"uid":437748,
"title":"NM_012160.4(FBXL4):c.1389+13G>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328416,
"stop":99328416
},
{
"uid":437747,
"title":"NM_012160.4(FBXL4):c.1389+5G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328424,
"stop":99328424
},
{
"uid":437746,
"title":"NM_012160.4(FBXL4):c.1389+4A>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328425,
"stop":99328425
},
{
"uid":437745,
"title":"NM_012160.4(FBXL4):c.1389G>C (p.Met463Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328429,
"stop":99328429
},
{
"uid":437744,
"title":"NM_012160.4(FBXL4):c.1388T>C (p.Met463Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328430,
"stop":99328430
},
{
"uid":437743,
"title":"NM_012160.4(FBXL4):c.1379G>A (p.Ser460Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328439,
"stop":99328439
},
{
"uid":437742,
"title":"NM_012160.4(FBXL4):c.1370G>A (p.Ser457Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328448,
"stop":99328448
},
{
"uid":437741,
"title":"NM_012160.4(FBXL4):c.1360C>T (p.Gln454Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328458,
"stop":99328458
},
{
"uid":437740,
"title":"NM_012160.4(FBXL4):c.1356G>A (p.Glu452=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328462,
"stop":99328462
},
{
"uid":437739,
"title":"NM_012160.4(FBXL4):c.1349G>A (p.Cys450Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328469,
"stop":99328469
},
{
"uid":437738,
"title":"NM_012160.4(FBXL4):c.1344C>T (p.Asn448=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328474,
"stop":99328474
},
{
"uid":437737,
"title":"NM_012160.4(FBXL4):c.1339T>C (p.Leu447=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328479,
"stop":99328479
},
{
"uid":437736,
"title":"NM_012160.4(FBXL4):c.1336A>G (p.Ile446Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328482,
"stop":99328482
},
{
"uid":437735,
"title":"NM_012160.4(FBXL4):c.1318-10C>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328510,
"stop":99328510
},
{
"uid":437734,
"title":"NM_012160.4(FBXL4):c.1318C>G (p.Gln440Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328500,
"stop":99328500
},
{
"uid":437733,
"title":"NM_012160.4(FBXL4):c.1318-10C>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328510,
"stop":99328510
},
{
"uid":437732,
"title":"NM_012160.4(FBXL4):c.1318-15G>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328515,
"stop":99328515
},
{
"uid":437731,
"title":"NM_012160.4(FBXL4):c.1318-16T>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328516,
"stop":99328516
},
{
"uid":437730,
"title":"NM_012160.4(FBXL4):c.1317+19T>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347125,
"stop":99347125
},
{
"uid":437729,
"title":"NM_012160.4(FBXL4):c.1317+17A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347127,
"stop":99347127
},
{
"uid":437728,
"title":"NM_012160.4(FBXL4):c.1317+13C>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347131,
"stop":99347131
},
{
"uid":437727,
"title":"NM_012160.4(FBXL4):c.1311A>G (p.Lys437=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347150,
"stop":99347150
},
{
"uid":437726,
"title":"NM_012160.4(FBXL4):c.1294G>A (p.Val432Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347167,
"stop":99347167
},
{
"uid":437725,
"title":"NM_012160.4(FBXL4):c.1289G>A (p.Arg430Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347172,
"stop":99347172
},
{
"uid":437724,
"title":"NM_012160.4(FBXL4):c.1288C>T (p.Arg430Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347173,
"stop":99347173
},
{
"uid":437723,
"title":"NM_012160.4(FBXL4):c.1285A>G (p.Lys429Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347176,
"stop":99347176
},
{
"uid":437722,
"title":"NM_012160.4(FBXL4):c.1260C>T (p.Asn420=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347201,
"stop":99347201
},
{
"uid":437721,
"title":"NM_012160.4(FBXL4):c.1254T>A (p.Ala418=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347207,
"stop":99347207
},
{
"uid":437720,
"title":"NM_012160.4(FBXL4):c.1252G>A (p.Ala418Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347209,
"stop":99347209
},
{
"uid":437719,
"title":"NM_012160.4(FBXL4):c.1251A>G (p.Gln417=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347210,
"stop":99347210
},
{
"uid":437718,
"title":"NM_012160.4(FBXL4):c.1247C>T (p.Pro416Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347214,
"stop":99347214
},
{
"uid":437717,
"title":"NM_012160.4(FBXL4):c.1244C>T (p.Pro415Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347217,
"stop":99347217
},
{
"uid":437716,
"title":"NM_012160.4(FBXL4):c.1226C>A (p.Ser409Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347235,
"stop":99347235
},
{
"uid":437715,
"title":"NM_012160.4(FBXL4):c.1224C>G (p.Leu408=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347237,
"stop":99347237
},
{
"uid":437714,
"title":"NM_012160.4(FBXL4):c.1214C>A (p.Ala405Asp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347247,
"stop":99347247
},
{
"uid":437713,
"title":"NM_012160.4(FBXL4):c.1213G>A (p.Ala405Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347248,
"stop":99347248
},
{
"uid":437712,
"title":"NM_012160.4(FBXL4):c.1209A>G (p.Leu403=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347252,
"stop":99347252
},
{
"uid":437711,
"title":"NM_012160.4(FBXL4):c.1195A>T (p.Met399Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347266,
"stop":99347266
},
{
"uid":437710,
"title":"NM_012160.4(FBXL4):c.1194G>A (p.Glu398=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347267,
"stop":99347267
},
{
"uid":437709,
"title":"NM_012160.4(FBXL4):c.1190C>A (p.Ser397Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347271,
"stop":99347271
},
{
"uid":437708,
"title":"NM_012160.4(FBXL4):c.1172C>G (p.Thr391Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347289,
"stop":99347289
},
{
"uid":437707,
"title":"NM_012160.4(FBXL4):c.1172C>T (p.Thr391Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347289,
"stop":99347289
},
{
"uid":437706,
"title":"NM_012160.4(FBXL4):c.1166A>G (p.Asn389Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347295,
"stop":99347295
},
{
"uid":437705,
"title":"NM_012160.4(FBXL4):c.1156C>T (p.His386Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347305,
"stop":99347305
},
{
"uid":437704,
"title":"NM_012160.4(FBXL4):c.1153A>G (p.Ser385Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347308,
"stop":99347308
},
{
"uid":437703,
"title":"NM_012160.4(FBXL4):c.1149T>C (p.Ser383=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347312,
"stop":99347312
},
{
"uid":437702,
"title":"NM_012160.4(FBXL4):c.1139T>C (p.Leu380Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347322,
"stop":99347322
},
{
"uid":437701,
"title":"NM_012160.4(FBXL4):c.1136G>A (p.Arg379His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347325,
"stop":99347325
},
{
"uid":437700,
"title":"NM_012160.4(FBXL4):c.1135C>T (p.Arg379Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347326,
"stop":99347326
},
{
"uid":437699,
"title":"NM_012160.4(FBXL4):c.1126G>A (p.Glu376Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347335,
"stop":99347335
},
{
"uid":437698,
"title":"NM_012160.4(FBXL4):c.1125C>T (p.Ser375=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347336,
"stop":99347336
},
{
"uid":437697,
"title":"NM_012160.4(FBXL4):c.1115T>C (p.Val372Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347346,
"stop":99347346
},
{
"uid":437696,
"title":"NM_012160.4(FBXL4):c.1113G>C (p.Lys371Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347348,
"stop":99347348
},
{
"uid":437695,
"title":"NM_012160.4(FBXL4):c.1104-4G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347361,
"stop":99347361
},
{
"uid":437694,
"title":"NM_012160.4(FBXL4):c.1104-4G>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347361,
"stop":99347361
},
{
"uid":437693,
"title":"NM_012160.4(FBXL4):c.1104-13G>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347370,
"stop":99347370
},
{
"uid":437692,
"title":"NM_012160.4(FBXL4):c.1104-19T>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347376,
"stop":99347376
},
{
"uid":437691,
"title":"NM_012160.4(FBXL4):c.1103+13C>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353289,
"stop":99353289
},
{
"uid":437690,
"title":"NM_012160.4(FBXL4):c.1103+13C>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353289,
"stop":99353289
},
{
"uid":437689,
"title":"NM_012160.4(FBXL4):c.1103+12G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353290,
"stop":99353290
},
{
"uid":437688,
"title":"NM_012160.4(FBXL4):c.1103+7A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353295,
"stop":99353295
},
{
"uid":437687,
"title":"NM_012160.4(FBXL4):c.1103G>A (p.Arg368Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353302,
"stop":99353302
},
{
"uid":437686,
"title":"NM_012160.4(FBXL4):c.1087G>T (p.Val363Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353318,
"stop":99353318
},
{
"uid":437685,
"title":"NM_012160.4(FBXL4):c.1083C>T (p.Ile361=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353322,
"stop":99353322
},
{
"uid":437684,
"title":"NM_012160.4(FBXL4):c.1073G>A (p.Arg358Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353332,
"stop":99353332
},
{
"uid":437683,
"title":"NM_012160.4(FBXL4):c.1071T>G (p.Asn357Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353334,
"stop":99353334
},
{
"uid":437682,
"title":"NM_012160.4(FBXL4):c.1070A>G (p.Asn357Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353335,
"stop":99353335
},
{
"uid":437681,
"title":"NM_012160.4(FBXL4):c.1069A>G (p.Asn357Asp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353336,
"stop":99353336
},
{
"uid":437680,
"title":"NM_012160.4(FBXL4):c.1067G>C (p.Gly356Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353338,
"stop":99353338
},
{
"uid":437679,
"title":"NM_012160.4(FBXL4):c.1056A>G (p.Leu352=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353349,
"stop":99353349
},
{
"uid":437678,
"title":"NM_012160.4(FBXL4):c.1056A>T (p.Leu352Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353349,
"stop":99353349
},
{
"uid":437677,
"title":"NM_012160.4(FBXL4):c.1027C>T (p.Arg343Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353378,
"stop":99353378
},
{
"uid":437676,
"title":"NM_012160.4(FBXL4):c.1020A>G (p.Leu340=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353385,
"stop":99353385
},
{
"uid":437675,
"title":"NM_012160.4(FBXL4):c.1011G>T (p.Leu337=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353394,
"stop":99353394
},
{
"uid":437674,
"title":"NM_012160.4(FBXL4):c.1009C>T (p.Leu337=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353396,
"stop":99353396
},
{
"uid":437673,
"title":"NM_012160.4(FBXL4):c.991A>G (p.Lys331Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353414,
"stop":99353414
},
{
"uid":437672,
"title":"NM_012160.4(FBXL4):c.989C>G (p.Ala330Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353416,
"stop":99353416
},
{
"uid":437671,
"title":"NM_012160.4(FBXL4):c.989C>T (p.Ala330Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353416,
"stop":99353416
},
{
"uid":437670,
"title":"NM_012160.4(FBXL4):c.988G>A (p.Ala330Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353417,
"stop":99353417
},
{
"uid":437669,
"title":"NM_012160.4(FBXL4):c.982T>C (p.Tyr328His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353423,
"stop":99353423
},
{
"uid":437668,
"title":"NM_012160.4(FBXL4):c.971A>G (p.Asn324Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353434,
"stop":99353434
},
{
"uid":437667,
"title":"NM_012160.4(FBXL4):c.961A>G (p.Ile321Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353444,
"stop":99353444
},
{
"uid":437666,
"title":"NM_012160.4(FBXL4):c.961A>C (p.Ile321Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353444,
"stop":99353444
},
{
"uid":437665,
"title":"NM_012160.4(FBXL4):c.954G>A (p.Leu318=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353451,
"stop":99353451
},
{
"uid":437664,
"title":"NM_012160.4(FBXL4):c.953T>G (p.Leu318Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353452,
"stop":99353452
},
{
"uid":437663,
"title":"NM_012160.4(FBXL4):c.949C>T (p.Pro317Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353456,
"stop":99353456
},
{
"uid":437662,
"title":"NM_012160.4(FBXL4):c.946G>T (p.Asp316Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353459,
"stop":99353459
},
{
"uid":437661,
"title":"NM_012160.4(FBXL4):c.944G>T (p.Cys315Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353461,
"stop":99353461
},
{
"uid":437660,
"title":"NM_012160.4(FBXL4):c.937C>T (p.His313Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353468,
"stop":99353468
},
{
"uid":437659,
"title":"NM_012160.4(FBXL4):c.936G>A (p.Gln312=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353469,
"stop":99353469
},
{
"uid":437658,
"title":"NM_012160.4(FBXL4):c.933C>G (p.Ser311Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353472,
"stop":99353472
},
{
"uid":437657,
"title":"NM_012160.4(FBXL4):c.923A>G (p.Lys308Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353482,
"stop":99353482
},
{
"uid":437656,
"title":"NM_012160.4(FBXL4):c.919T>C (p.Cys307Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353486,
"stop":99353486
},
{
"uid":437655,
"title":"NM_012160.4(FBXL4):c.913C>G (p.Gln305Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353492,
"stop":99353492
},
{
"uid":437654,
"title":"NM_012160.4(FBXL4):c.906A>G (p.Arg302=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353499,
"stop":99353499
},
{
"uid":437653,
"title":"NM_012160.4(FBXL4):c.904A>G (p.Arg302Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353501,
"stop":99353501
},
{
"uid":437652,
"title":"NM_012160.4(FBXL4):c.903T>A (p.Cys301Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353502,
"stop":99353502
},
{
"uid":437651,
"title":"NM_012160.4(FBXL4):c.901T>C (p.Cys301Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353504,
"stop":99353504
},
{
"uid":437650,
"title":"NM_012160.4(FBXL4):c.893C>T (p.Pro298Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353512,
"stop":99353512
},
{
"uid":437649,
"title":"NM_012160.4(FBXL4):c.891A>G (p.Leu297=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353514,
"stop":99353514
},
{
"uid":437648,
"title":"NM_012160.4(FBXL4):c.879T>C (p.Asn293=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353526,
"stop":99353526
},
{
"uid":437647,
"title":"NM_012160.4(FBXL4):c.874C>G (p.Leu292Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353531,
"stop":99353531
},
{
"uid":437646,
"title":"NM_012160.4(FBXL4):c.872T>C (p.Ile291Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353533,
"stop":99353533
},
{
"uid":437645,
"title":"NM_012160.4(FBXL4):c.871A>G (p.Ile291Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353534,
"stop":99353534
},
{
"uid":437644,
"title":"NM_012160.4(FBXL4):c.859-1G>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353547,
"stop":99353547
},
{
"uid":437643,
"title":"NM_012160.4(FBXL4):c.859-6A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353552,
"stop":99353552
},
{
"uid":437642,
"title":"NM_012160.4(FBXL4):c.849A>C (p.Leu283=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365259,
"stop":99365259
},
{
"uid":437641,
"title":"NM_012160.4(FBXL4):c.834G>A (p.Gly278=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365274,
"stop":99365274
},
{
"uid":437640,
"title":"NM_012160.4(FBXL4):c.822G>T (p.Gly274=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365286,
"stop":99365286
},
{
"uid":437639,
"title":"NM_012160.4(FBXL4):c.818A>G (p.Glu273Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365290,
"stop":99365290
},
{
"uid":437638,
"title":"NM_012160.4(FBXL4):c.814G>A (p.Gly272Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365294,
"stop":99365294
},
{
"uid":437637,
"title":"NM_012160.4(FBXL4):c.813C>T (p.Leu271=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365295,
"stop":99365295
},
{
"uid":437636,
"title":"NM_012160.4(FBXL4):c.782G>A (p.Ser261Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365326,
"stop":99365326
},
{
"uid":437635,
"title":"NM_012160.4(FBXL4):c.776T>C (p.Met259Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365332,
"stop":99365332
},
{
"uid":437634,
"title":"NM_012160.4(FBXL4):c.773G>T (p.Gly258Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365335,
"stop":99365335
},
{
"uid":437633,
"title":"NM_012160.4(FBXL4):c.766G>A (p.Gly256Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365342,
"stop":99365342
},
{
"uid":437632,
"title":"NM_012160.4(FBXL4):c.755C>T (p.Ala252Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365353,
"stop":99365353
},
{
"uid":437631,
"title":"NM_012160.4(FBXL4):c.752A>G (p.Tyr251Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365356,
"stop":99365356
},
{
"uid":437630,
"title":"NM_012160.4(FBXL4):c.749C>T (p.Ala250Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365359,
"stop":99365359
},
{
"uid":437629,
"title":"NM_012160.4(FBXL4):c.747T>C (p.Asp249=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365361,
"stop":99365361
},
{
"uid":437628,
"title":"NM_012160.4(FBXL4):c.747T>A (p.Asp249Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365361,
"stop":99365361
},
{
"uid":437627,
"title":"NM_012160.4(FBXL4):c.744T>C (p.Asp248=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365364,
"stop":99365364
},
{
"uid":437626,
"title":"NM_012160.4(FBXL4):c.737T>C (p.Ile246Thr)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365371,
"stop":99365371
},
{
"uid":437625,
"title":"NM_012160.4(FBXL4):c.736A>G (p.Ile246Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365372,
"stop":99365372
},
{
"uid":437624,
"title":"NM_012160.4(FBXL4):c.735T>C (p.Asp245=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365373,
"stop":99365373
},
{
"uid":437623,
"title":"NM_012160.4(FBXL4):c.731A>G (p.Asn244Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365377,
"stop":99365377
},
{
"uid":437622,
"title":"NM_012160.4(FBXL4):c.730A>G (p.Asn244Asp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365378,
"stop":99365378
},
{
"uid":437621,
"title":"NM_012160.4(FBXL4):c.725A>G (p.Asp242Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365383,
"stop":99365383
},
{
"uid":437620,
"title":"NM_012160.4(FBXL4):c.724G>A (p.Asp242Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365384,
"stop":99365384
},
{
"uid":437619,
"title":"NM_012160.4(FBXL4):c.722T>C (p.Ile241Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365386,
"stop":99365386
},
{
"uid":437618,
"title":"NM_012160.4(FBXL4):c.714T>G (p.Thr238=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365394,
"stop":99365394
},
{
"uid":437617,
"title":"NM_012160.4(FBXL4):c.702T>C (p.Leu234=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365406,
"stop":99365406
},
{
"uid":437616,
"title":"NM_012160.4(FBXL4):c.682G>A (p.Val228Met)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365426,
"stop":99365426
},
{
"uid":437615,
"title":"NM_012160.4(FBXL4):c.676C>T (p.His226Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365432,
"stop":99365432
},
{
"uid":437614,
"title":"NM_012160.4(FBXL4):c.673C>T (p.Leu225=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365435,
"stop":99365435
},
{
"uid":437613,
"title":"NM_012160.4(FBXL4):c.672G>A (p.Val224=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365436,
"stop":99365436
},
{
"uid":437612,
"title":"NM_012160.4(FBXL4):c.668T>G (p.Val223Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365440,
"stop":99365440
},
{
"uid":437611,
"title":"NM_012160.4(FBXL4):c.666A>C (p.Ala222=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365442,
"stop":99365442
},
{
"uid":437610,
"title":"NM_012160.4(FBXL4):c.645A>G (p.Glu215=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365463,
"stop":99365463
},
{
"uid":437609,
"title":"NM_012160.4(FBXL4):c.645A>C (p.Glu215Asp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365463,
"stop":99365463
},
{
"uid":437608,
"title":"NM_012160.4(FBXL4):c.643G>C (p.Glu215Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365465,
"stop":99365465
},
{
"uid":437607,
"title":"NM_012160.4(FBXL4):c.637C>T (p.Leu213Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365471,
"stop":99365471
},
{
"uid":437606,
"title":"NM_012160.4(FBXL4):c.634T>G (p.Ser212Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365474,
"stop":99365474
},
{
"uid":437605,
"title":"NM_012160.4(FBXL4):c.607A>G (p.Asn203Asp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365501,
"stop":99365501
},
{
"uid":437604,
"title":"NM_012160.4(FBXL4):c.601C>T (p.Pro201Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365507,
"stop":99365507
},
{
"uid":437603,
"title":"NM_012160.4(FBXL4):c.590A>C (p.Gln197Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365518,
"stop":99365518
},
{
"uid":437602,
"title":"NM_012160.4(FBXL4):c.570G>C (p.Gln190His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365538,
"stop":99365538
},
{
"uid":437601,
"title":"NM_012160.4(FBXL4):c.567C>A (p.Arg189=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365541,
"stop":99365541
},
{
"uid":437600,
"title":"NM_012160.4(FBXL4):c.566G>T (p.Arg189Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365542,
"stop":99365542
},
{
"uid":437599,
"title":"NM_012160.4(FBXL4):c.565C>T (p.Arg189Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365543,
"stop":99365543
},
{
"uid":437598,
"title":"NM_012160.4(FBXL4):c.559C>A (p.Gln187Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365549,
"stop":99365549
},
{
"uid":437597,
"title":"NM_012160.4(FBXL4):c.558C>G (p.Ser186=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365550,
"stop":99365550
},
{
"uid":437596,
"title":"NM_012160.4(FBXL4):c.547G>C (p.Val183Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365561,
"stop":99365561
},
{
"uid":437595,
"title":"NM_012160.4(FBXL4):c.542C>T (p.Thr181Met)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365566,
"stop":99365566
},
{
"uid":437594,
"title":"NM_012160.4(FBXL4):c.541A>G (p.Thr181Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365567,
"stop":99365567
},
{
"uid":437593,
"title":"NM_012160.4(FBXL4):c.540T>G (p.Pro180=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365568,
"stop":99365568
},
{
"uid":437592,
"title":"NM_012160.4(FBXL4):c.532G>A (p.Glu178Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365576,
"stop":99365576
},
{
"uid":437591,
"title":"NM_012160.4(FBXL4):c.529T>A (p.Ser177Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365579,
"stop":99365579
},
{
"uid":437590,
"title":"NM_012160.4(FBXL4):c.527G>C (p.Trp176Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365581,
"stop":99365581
},
{
"uid":437589,
"title":"NM_012160.4(FBXL4):c.526T>C (p.Trp176Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365582,
"stop":99365582
},
{
"uid":437588,
"title":"NM_012160.4(FBXL4):c.513-13C>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365608,
"stop":99365608
},
{
"uid":437587,
"title":"NM_012160.4(FBXL4):c.513-13C>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365608,
"stop":99365608
},
{
"uid":437586,
"title":"NM_012160.4(FBXL4):c.513-16T>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365611,
"stop":99365611
},
{
"uid":437585,
"title":"NM_012160.4(FBXL4):c.506A>C (p.Glu169Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374359,
"stop":99374359
},
{
"uid":437584,
"title":"NM_012160.4(FBXL4):c.493A>C (p.Asn165His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374372,
"stop":99374372
},
{
"uid":437583,
"title":"NM_012160.4(FBXL4):c.491C>T (p.Pro164Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374374,
"stop":99374374
},
{
"uid":437582,
"title":"NM_012160.4(FBXL4):c.470G>T (p.Cys157Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374395,
"stop":99374395
},
{
"uid":437581,
"title":"NM_012160.4(FBXL4):c.454A>G (p.Ile152Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374411,
"stop":99374411
},
{
"uid":437580,
"title":"NM_012160.4(FBXL4):c.443C>T (p.Pro148Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374422,
"stop":99374422
},
{
"uid":437579,
"title":"NM_012160.4(FBXL4):c.442C>T (p.Pro148Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374423,
"stop":99374423
},
{
"uid":437578,
"title":"NM_012160.4(FBXL4):c.440A>G (p.His147Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374425,
"stop":99374425
},
{
"uid":437577,
"title":"NM_012160.4(FBXL4):c.434C>G (p.Thr145Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374431,
"stop":99374431
},
{
"uid":437576,
"title":"NM_012160.4(FBXL4):c.418G>A (p.Val140Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374447,
"stop":99374447
},
{
"uid":437575,
"title":"NM_012160.4(FBXL4):c.417_418insA (p.Val140Serfs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374447,
"stop":99374448
},
{
"uid":437574,
"title":"NM_012160.4(FBXL4):c.416C>G (p.Ala139Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374449,
"stop":99374449
},
{
"uid":437573,
"title":"NM_012160.4(FBXL4):c.415_416insTT (p.Ala139Valfs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374449,
"stop":99374450
},
{
"uid":437572,
"title":"NM_012160.4(FBXL4):c.405G>C (p.Val135=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374460,
"stop":99374460
},
{
"uid":437571,
"title":"NM_012160.4(FBXL4):c.402G>T (p.Gln134His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374463,
"stop":99374463
},
{
"uid":437570,
"title":"NM_012160.4(FBXL4):c.399A>G (p.Gln133=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374466,
"stop":99374466
},
{
"uid":437569,
"title":"NM_012160.4(FBXL4):c.396A>G (p.Glu132=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374469,
"stop":99374469
},
{
"uid":437568,
"title":"NM_012160.4(FBXL4):c.394G>A (p.Glu132Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374471,
"stop":99374471
},
{
"uid":437567,
"title":"NM_012160.4(FBXL4):c.381G>A (p.Val127=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374484,
"stop":99374484
},
{
"uid":437566,
"title":"NM_012160.4(FBXL4):c.371A>G (p.Gln124Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374494,
"stop":99374494
},
{
"uid":437565,
"title":"NM_012160.4(FBXL4):c.370C>T (p.Gln124Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374495,
"stop":99374495
},
{
"uid":437564,
"title":"NM_012160.4(FBXL4):c.353C>T (p.Pro118Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374512,
"stop":99374512
},
{
"uid":437563,
"title":"NM_012160.4(FBXL4):c.350C>T (p.Thr117Met)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374515,
"stop":99374515
},
{
"uid":437562,
"title":"NM_012160.4(FBXL4):c.335T>G (p.Leu112Trp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374530,
"stop":99374530
},
{
"uid":437561,
"title":"NM_012160.4(FBXL4):c.332C>T (p.Ser111Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374533,
"stop":99374533
},
{
"uid":437560,
"title":"NM_012160.4(FBXL4):c.300T>C (p.Tyr100=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374565,
"stop":99374565
},
{
"uid":437559,
"title":"NM_012160.4(FBXL4):c.293G>A (p.Arg98Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374572,
"stop":99374572
},
{
"uid":437558,
"title":"NM_012160.4(FBXL4):c.252A>G (p.Val84=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374613,
"stop":99374613
},
{
"uid":437557,
"title":"NM_012160.4(FBXL4):c.249T>G (p.Asn83Lys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374616,
"stop":99374616
},
{
"uid":437556,
"title":"NM_012160.4(FBXL4):c.249T>C (p.Asn83=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374616,
"stop":99374616
},
{
"uid":437555,
"title":"NM_012160.4(FBXL4):c.230A>G (p.Asn77Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374635,
"stop":99374635
},
{
"uid":437554,
"title":"NM_012160.4(FBXL4):c.221C>G (p.Thr74Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374644,
"stop":99374644
},
{
"uid":437553,
"title":"NM_012160.4(FBXL4):c.219T>C (p.Tyr73=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374646,
"stop":99374646
},
{
"uid":437552,
"title":"NM_012160.4(FBXL4):c.216C>T (p.Ser72=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374649,
"stop":99374649
},
{
"uid":437551,
"title":"NM_012160.4(FBXL4):c.209G>A (p.Ser70Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374656,
"stop":99374656
},
{
"uid":437550,
"title":"NM_012160.4(FBXL4):c.201T>G (p.Ser67Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374664,
"stop":99374664
},
{
"uid":437549,
"title":"NM_012160.4(FBXL4):c.194A>G (p.Tyr65Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374671,
"stop":99374671
},
{
"uid":437548,
"title":"NM_012160.4(FBXL4):c.176T>G (p.Val59Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374689,
"stop":99374689
},
{
"uid":437547,
"title":"NM_012160.4(FBXL4):c.167A>G (p.Lys56Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374698,
"stop":99374698
},
{
"uid":437546,
"title":"NM_012160.4(FBXL4):c.158A>T (p.Gln53Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374707,
"stop":99374707
},
{
"uid":437545,
"title":"NM_012160.4(FBXL4):c.137C>T (p.Pro46Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374728,
"stop":99374728
},
{
"uid":437544,
"title":"NM_012160.4(FBXL4):c.137C>G (p.Pro46Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374728,
"stop":99374728
},
{
"uid":437543,
"title":"NM_012160.4(FBXL4):c.135C>T (p.Ser45=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374730,
"stop":99374730
},
{
"uid":437542,
"title":"NM_012160.4(FBXL4):c.131C>A (p.Thr44Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374734,
"stop":99374734
},
{
"uid":437541,
"title":"NM_012160.4(FBXL4):c.130A>T (p.Thr44Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374735,
"stop":99374735
},
{
"uid":437540,
"title":"NM_012160.4(FBXL4):c.129G>C (p.Gln43His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374736,
"stop":99374736
},
{
"uid":437539,
"title":"NM_012160.4(FBXL4):c.125G>A (p.Ser42Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374740,
"stop":99374740
},
{
"uid":437538,
"title":"NM_012160.4(FBXL4):c.112A>G (p.Ile38Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374753,
"stop":99374753
},
{
"uid":437537,
"title":"NM_012160.4(FBXL4):c.109G>A (p.Ala37Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374756,
"stop":99374756
},
{
"uid":437536,
"title":"NM_012160.4(FBXL4):c.105T>C (p.His35=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374760,
"stop":99374760
},
{
"uid":437535,
"title":"NM_012160.4(FBXL4):c.104A>G (p.His35Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374761,
"stop":99374761
},
{
"uid":437534,
"title":"NM_012160.4(FBXL4):c.103C>T (p.His35Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374762,
"stop":99374762
},
{
"uid":437533,
"title":"NM_012160.4(FBXL4):c.91A>G (p.Met31Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374774,
"stop":99374774
},
{
"uid":437532,
"title":"NM_012160.4(FBXL4):c.87A>G (p.Gly29=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374778,
"stop":99374778
},
{
"uid":437531,
"title":"NM_012160.4(FBXL4):c.79A>G (p.Thr27Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374786,
"stop":99374786
},
{
"uid":437530,
"title":"NM_012160.4(FBXL4):c.78T>C (p.Ala26=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374787,
"stop":99374787
},
{
"uid":437529,
"title":"NM_012160.4(FBXL4):c.70A>G (p.Arg24Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374795,
"stop":99374795
},
{
"uid":437528,
"title":"NM_012160.4(FBXL4):c.65G>A (p.Arg22Gln)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374800,
"stop":99374800
},
{
"uid":437527,
"title":"NM_012160.4(FBXL4):c.65G>C (p.Arg22Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374800,
"stop":99374800
},
{
"uid":437526,
"title":"NM_012160.4(FBXL4):c.62G>A (p.Arg21His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374803,
"stop":99374803
},
{
"uid":437525,
"title":"NM_012160.4(FBXL4):c.61C>T (p.Arg21Cys)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374804,
"stop":99374804
},
{
"uid":437524,
"title":"NM_012160.4(FBXL4):c.58C>T (p.Arg20Trp)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374807,
"stop":99374807
},
{
"uid":437523,
"title":"NM_012160.4(FBXL4):c.49A>G (p.Ile17Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374816,
"stop":99374816
},
{
"uid":437522,
"title":"NM_012160.4(FBXL4):c.49A>T (p.Ile17Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374816,
"stop":99374816
},
{
"uid":437521,
"title":"NM_012160.4(FBXL4):c.48T>C (p.Tyr16=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374817,
"stop":99374817
},
{
"uid":437520,
"title":"NM_012160.4(FBXL4):c.46T>C (p.Tyr16His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374819,
"stop":99374819
},
{
"uid":437519,
"title":"NM_012160.4(FBXL4):c.45T>C (p.Tyr15=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374820,
"stop":99374820
},
{
"uid":437518,
"title":"NM_012160.4(FBXL4):c.36C>G (p.Thr12=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374829,
"stop":99374829
},
{
"uid":437517,
"title":"NM_012160.4(FBXL4):c.35C>T (p.Thr12Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374830,
"stop":99374830
},
{
"uid":437516,
"title":"NM_012160.4(FBXL4):c.33G>A (p.Leu11=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374832,
"stop":99374832
},
{
"uid":437515,
"title":"NM_012160.4(FBXL4):c.23T>C (p.Leu8Ser)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374842,
"stop":99374842
},
{
"uid":437514,
"title":"NM_012160.4(FBXL4):c.20T>C (p.Met7Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374845,
"stop":99374845
},
{
"uid":437513,
"title":"NM_012160.4(FBXL4):c.18C>T (p.Pro6=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374847,
"stop":99374847
},
{
"uid":437512,
"title":"NM_012160.4(FBXL4):c.16_18del (p.Pro6del)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374847,
"stop":99374849
},
{
"uid":437511,
"title":"NM_012160.4(FBXL4):c.15T>A (p.Phe5Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374850,
"stop":99374850
},
{
"uid":437510,
"title":"NM_012160.4(FBXL4):c.9G>A (p.Pro3=)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374856,
"stop":99374856
},
{
"uid":437509,
"title":"NM_012160.4(FBXL4):c.8C>T (p.Pro3Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374857,
"stop":99374857
},
{
"uid":437508,
"title":"NM_012160.4(FBXL4):c.6A>G (p.Ser2=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374859,
"stop":99374859
},
{
"uid":437507,
"title":"NM_012160.4(FBXL4):c.3G>A (p.Met1Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374862,
"stop":99374862
},
{
"uid":437506,
"title":"NM_012160.4(FBXL4):c.-16C>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374880,
"stop":99374880
},
{
"uid":437505,
"title":"NM_012160.4(FBXL4):c.1389+3_1389+6del",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328423,
"stop":99328426
},
{
"uid":437504,
"title":"NM_012160.4(FBXL4):c.-15A>G",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374879,
"stop":99374879
},
{
"uid":437503,
"title":"NM_012160.4(FBXL4):c.1317G>A (p.Glu439=)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347144,
"stop":99347144
},
{
"uid":437502,
"title":"NM_012160.4(FBXL4):c.858+1G>T",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365249,
"stop":99365249
},
{
"uid":437501,
"title":"NM_012160.4(FBXL4):c.858+5G>C",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365245,
"stop":99365245
},
{
"uid":437500,
"title":"NM_012160.4(FBXL4):c.513-1G>A",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365596,
"stop":99365596
},
{
"uid":437499,
"title":"NM_012160.4(FBXL4):c.1648_1649del (p.Asp550Hisfs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-12-03T00:00:00.000Z"
},
"start":99323344,
"stop":99323345
},
{
"uid":437498,
"title":"NM_012160.4(FBXL4):c.1067delG (p.Gly356Alafs)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2018-05-21T00:00:00.000Z"
},
"start":99353338,
"stop":99353338
},
{
"uid":437496,
"title":"NM_012160.4(FBXL4):c.326del (p.Ser109Metfs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374539,
"stop":99374539
},
{
"uid":437495,
"title":"NM_012160.4(FBXL4):c.273_277del (p.Phe91Leufs)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374588,
"stop":99374592
},
{
"uid":437494,
"title":"NM_012160.4(FBXL4):c.1687C>T (p.Gln563Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323306,
"stop":99323306
},
{
"uid":437493,
"title":"NM_012160.4(FBXL4):c.1210C>T (p.Gln404Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347251,
"stop":99347251
},
{
"uid":437492,
"title":"NM_012160.4(FBXL4):c.616C>T (p.Arg206Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365492,
"stop":99365492
},
{
"uid":437491,
"title":"NM_012160.4(FBXL4):c.316C>T (p.Gln106Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-11-16T00:00:00.000Z"
},
"start":99374549,
"stop":99374549
},
{
"uid":437490,
"title":"NM_012160.4(FBXL4):c.292C>T (p.Arg98Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374573,
"stop":99374573
},
{
"uid":437489,
"title":"NM_012160.4(FBXL4):c.219T>A (p.Tyr73Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374646,
"stop":99374646
},
{
"uid":437488,
"title":"NM_012160.4(FBXL4):c.106A>T (p.Arg36Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374759,
"stop":99374759
},
{
"uid":437487,
"title":"NM_012160.4(FBXL4):c.1838T>A (p.Val613Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322182,
"stop":99322182
},
{
"uid":437486,
"title":"NM_012160.4(FBXL4):c.1790A>C (p.Gln597Pro)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2018-05-23T00:00:00.000Z"
},
"start":99322230,
"stop":99322230
},
{
"uid":437485,
"title":"NM_012160.4(FBXL4):c.1772A>G (p.Asp591Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322248,
"stop":99322248
},
{
"uid":437484,
"title":"NM_012160.4(FBXL4):c.1750T>C (p.Cys584Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322270,
"stop":99322270
},
{
"uid":437483,
"title":"NM_012160.4(FBXL4):c.1698A>G (p.Ile566Met)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323295,
"stop":99323295
},
{
"uid":437482,
"title":"NM_012160.4(FBXL4):c.1652T>A (p.Ile551Asn)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323341,
"stop":99323341
},
{
"uid":437481,
"title":"NM_012160.4(FBXL4):c.1622C>T (p.Thr541Ile)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323371,
"stop":99323371
},
{
"uid":437480,
"title":"NM_012160.4(FBXL4):c.1586C>A (p.Ala529Glu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323407,
"stop":99323407
},
{
"uid":437479,
"title":"NM_012160.4(FBXL4):c.1540T>G (p.Trp514Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Likely pathogenic",
"lastEvaluated":"2017-11-16T00:00:00.000Z"
},
"start":99323453,
"stop":99323453
},
{
"uid":437478,
"title":"NM_012160.4(FBXL4):c.1411G>A (p.Ala471Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323582,
"stop":99323582
},
{
"uid":437477,
"title":"NM_012160.4(FBXL4):c.1361A>C (p.Gln454Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328457,
"stop":99328457
},
{
"uid":437476,
"title":"NM_012160.4(FBXL4):c.1304G>T (p.Arg435Leu)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347157,
"stop":99347157
},
{
"uid":437475,
"title":"NM_012160.4(FBXL4):c.1232G>A (p.Cys411Tyr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Likely pathogenic",
"lastEvaluated":"2018-10-31T00:00:00.000Z"
},
"start":99347229,
"stop":99347229
},
{
"uid":437474,
"title":"NM_012160.4(FBXL4):c.1229C>T (p.Ser410Phe)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347232,
"stop":99347232
},
{
"uid":437473,
"title":"NM_012160.4(FBXL4):c.662A>T (p.Asp221Val)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365446,
"stop":99365446
},
{
"uid":437472,
"title":"NM_012160.4(FBXL4):c.661G>C (p.Asp221His)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365447,
"stop":99365447
},
{
"uid":437471,
"title":"NM_012160.4(FBXL4):c.614T>C (p.Ile205Thr)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99365494,
"stop":99365494
},
{
"uid":437470,
"title":"NM_012160.4(FBXL4):c.445G>A (p.Gly149Arg)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374420,
"stop":99374420
},
{
"uid":430470,
"title":"NM_012160.4(FBXL4):c.1304G>A (p.Arg435Gln)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic/Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347157,
"stop":99347157
},
{
"uid":419943,
"title":"NM_012160.4(FBXL4):c.1703-16_1703-12dup",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely benign",
"lastEvaluated":"2017-03-28T00:00:00.000Z"
},
"start":99322329,
"stop":99322333
},
{
"uid":397014,
"title":"GRCh37/hg19 6q16.1(chr6:99331183-99393661)x1",
"condition":"See cases",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Uncertain significance",
"lastEvaluated":null
},
"start":99331183,
"stop":99393661
},
{
"uid":396191,
"condition":"See cases",
"start":85988428,
"title":"GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":null
},
"stop":120548687
},
{
"uid":396129,
"condition":"See cases",
"start":92576950,
"title":"GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":null
},
"stop":104658245
},
{
"uid":395806,
"condition":"See cases",
"start":99283597,
"title":"GRCh37/hg19 6q16.1-16.3(chr6:99283597-100910572)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Uncertain significance",
"lastEvaluated":null
},
"stop":100910572
},
{
"uid":389412,
"title":"NM_012160.4(FBXL4):c.1353A>G (p.Ser451=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99328465,
"stop":99328465
},
{
"uid":389040,
"title":"NM_012160.4(FBXL4):c.351G>A (p.Thr117=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374514,
"stop":99374514
},
{
"uid":384777,
"title":"NM_012160.4(FBXL4):c.1317+14A>G",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, conflicting interpretations",
"description":"Conflicting interpretations of pathogenicity",
"lastEvaluated":"2017-09-15T00:00:00.000Z"
},
"start":99347130,
"stop":99347130
},
{
"uid":382986,
"title":"NM_012160.4(FBXL4):c.429A>G (p.Leu143=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Likely benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374436,
"stop":99374436
},
{
"uid":381422,
"title":"NM_012160.4(FBXL4):c.*3T>C",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99322151,
"stop":99322151
},
{
"uid":380510,
"title":"NM_012160.4(FBXL4):c.978A>G (p.Gln326=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353427,
"stop":99353427
},
{
"uid":380454,
"title":"NM_012160.4(FBXL4):c.468T>C (p.Ala156=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign/Likely benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374397,
"stop":99374397
},
{
"uid":375387,
"title":"NM_012160.4(FBXL4):c.419T>C (p.Val140Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374446,
"stop":99374446
},
{
"uid":373158,
"title":"NM_012160.4(FBXL4):c.1025C>G (p.Ser342Cys)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Uncertain significance",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99353380,
"stop":99353380
},
{
"uid":280414,
"title":"NM_012160.3(FBXL4):c.618_621dupACTG",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2018-12-07T00:00:00.000Z"
},
"start":99365487,
"stop":99365490
},
{
"uid":265143,
"title":"NM_012160.4(FBXL4):c.1641_1642del (p.Cys547Terfs)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323351,
"stop":99323352
},
{
"uid":260209,
"title":"NM_012160.4(FBXL4):c.465C>T (p.Leu155=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374400,
"stop":99374400
},
{
"uid":260208,
"title":"NM_012160.4(FBXL4):c.1569G>A (p.Gly523=)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323424,
"stop":99323424
},
{
"uid":260207,
"title":"NM_012160.4(FBXL4):c.105T>A (p.His35Gln)",
"condition":"not specified",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Benign",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99374760,
"stop":99374760
},
{
"uid":235778,
"title":"NM_012160.4(FBXL4):c.1546_1563del (p.Pro516_Ser521del)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323430,
"stop":99323447
},
{
"uid":235493,
"title":"NM_001278716.1(FBXL4):c.1440_1441insA (p.Leu481Thrfs)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2016-04-29T00:00:00.000Z"
},
"start":99323553,
"stop":99323553
},
{
"uid":224911,
"title":"NM_012160.4(FBXL4):c.1442T>C (p.Leu481Pro)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323551,
"stop":99323551
},
{
"uid":209153,
"title":"NM_012160.4(FBXL4):c.64C>T (p.Arg22Ter)",
"condition":"not provided",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-11-07T00:00:00.000Z"
},
"start":99374801,
"stop":99374801
},
{
"uid":154571,
"condition":"See cases",
"start":99218523,
"title":"GRCh38/hg38 6q16.1-16.2(chr6:98770647-99813111)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Uncertain significance",
"lastEvaluated":"2010-10-19T00:00:00.000Z"
},
"stop":100260987
},
{
"uid":150937,
"condition":"See cases",
"start":75092523,
"title":"GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2011-07-05T00:00:00.000Z"
},
"stop":142361637
},
{
"uid":150641,
"condition":"See cases",
"start":97057870,
"title":"GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1",
"significance":{
"reviewStatus":"no assertion criteria provided",
"description":"Pathogenic",
"lastEvaluated":"2011-08-02T00:00:00.000Z"
},
"stop":122482694
},
{
"uid":66094,
"title":"NM_012160.4(FBXL4):c.1694A>G (p.Asp565Gly)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323299,
"stop":99323299
},
{
"uid":66093,
"title":"NM_012160.4(FBXL4):c.1444C>T (p.Arg482Trp)",
"condition":"Mitochondrial encephalomyopathy",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic/Likely pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323549,
"stop":99323549
},
{
"uid":66092,
"title":"NM_012160.4(FBXL4):c.1703G>C (p.Gly568Ala)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic/Likely pathogenic",
"lastEvaluated":"2017-11-16T00:00:00.000Z"
},
"start":99322317,
"stop":99322317
},
{
"uid":66091,
"title":"NM_012160.4(FBXL4):c.1303C>T (p.Arg435Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, multiple submitters, no conflicts",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99347158,
"stop":99347158
},
{
"uid":66090,
"title":"NM_012160.4(FBXL4):c.1555C>T (p.Gln519Ter)",
"condition":"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2017-08-10T00:00:00.000Z"
},
"start":99323438,
"stop":99323438
},
{
"uid":58440,
"condition":"See cases",
"start":99116405,
"title":"GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2011-08-12T00:00:00.000Z"
},
"stop":101714826
},
{
"uid":58439,
"condition":"See cases",
"start":98301652,
"title":"GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1",
"significance":{
"reviewStatus":"criteria provided, single submitter",
"description":"Pathogenic",
"lastEvaluated":"2011-08-12T00:00:00.000Z"
},
"stop":103028472
}
]
/geno2mp
Get gnomAD variant information with variant
get
get /geno2mp/variant/:variant
HTTP status code 200
Body
Media type: application/json
Type: object
Properties- hg19Chr: required(string)
Chromosome (hg19)
- hg19Pos: required(integer)
Position (hg19)
- ref: required(string)
Reference allele
- alt: required(string)
Alternate allele
- homCount: required(number)
- hetCount: required(number)
- funcAnno: required(string)
- hpoCount: required(number)
Number of HPO profiles
- hpoProfiles: required(array of object)
Items: items
- narrow: required(object)
- hpoIds: required(array of string)
- hpoTerm: required(string)
- medium: required(object)
- hpoIds: required(array of string)
- hpoTerm: required(string)
- broad: required(object)
- hpoIds: required(array of string)
- hpoTerm: required(string)
- affectedStatus: required(string)
- narrow: required(object)
- hgvsProteinChange: (string)
- genes: (array of object)
Items: items
- entrezId: required(number)
- symbol: required(string)
- hgvsCdnaChange: (string)
- rsId: (string)
Example:
{
"alt":"C",
"hg19Chr":"6",
"hg19Pos":99365567,
"ref":"T",
"hpoProfiles":[
{
"narrow":{
"hpoIds":[
],
"hpoTerm":" "
},
"medium":{
"hpoIds":[
"HP:0000365"
],
"hpoTerm":"Hearing impairment "
},
"broad":{
"hpoIds":[
"HP:0000598"
],
"hpoTerm":"Abnormality of the ear "
},
"affectedStatus":"affected",
"T2C":1
},
{
"narrow":{
"hpoIds":[
],
"hpoTerm":" "
},
"medium":{
"hpoIds":[
"HP:0000708"
],
"hpoTerm":"Behavioral abnormality "
},
"broad":{
"hpoIds":[
"HP:0000707"
],
"hpoTerm":"Abnormality of the nervous system "
},
"affectedStatus":"affected",
"T2C":1
},
{
"narrow":{
"hpoIds":[
"HP:0200134"
],
"hpoTerm":"Epileptic encephalopathy "
},
"medium":{
"hpoIds":[
"HP:0012638"
],
"hpoTerm":"Abnormality of nervous system physiology "
},
"broad":{
"hpoIds":[
"HP:0000707"
],
"hpoTerm":"Abnormality of the nervous system "
},
"affectedStatus":"affected",
"T2C":1
},
{
"narrow":{
"hpoIds":[
"HP:0001249"
],
"hpoTerm":"Intellectual disability "
},
"medium":{
"hpoIds":[
"HP:0012759",
"HP:0000504"
],
"hpoTerm":"Neurodevelopmental abnormality Abnormality of vision "
},
"broad":{
"hpoIds":[
"HP:0000707",
"HP:0000478"
],
"hpoTerm":"Abnormality of the nervous system Abnormality of the eye "
},
"affectedStatus":"affected",
"T2C":1
},
{
"narrow":{
"hpoIds":[
],
"hpoTerm":" "
},
"medium":{
"hpoIds":[
"HP:0000708"
],
"hpoTerm":"Behavioral abnormality "
},
"broad":{
"hpoIds":[
"HP:0000707"
],
"hpoTerm":"Abnormality of the nervous system "
},
"affectedStatus":"relative",
"T2C":2
},
{
"narrow":{
"hpoIds":[
"HP:0200134"
],
"hpoTerm":"Epileptic encephalopathy "
},
"medium":{
"hpoIds":[
"HP:0012638"
],
"hpoTerm":"Abnormality of nervous system physiology "
},
"broad":{
"hpoIds":[
"HP:0000707"
],
"hpoTerm":"Abnormality of the nervous system "
},
"affectedStatus":"relative",
"T2C":1
},
{
"narrow":{
"hpoIds":[
"HP:0001249"
],
"hpoTerm":"Intellectual disability "
},
"medium":{
"hpoIds":[
"HP:0012759",
"HP:0000504"
],
"hpoTerm":"Neurodevelopmental abnormality Abnormality of vision "
},
"broad":{
"hpoIds":[
"HP:0000707",
"HP:0000478"
],
"hpoTerm":"Abnormality of the nervous system Abnormality of the eye "
},
"affectedStatus":"relative",
"T2C":1
},
{
"narrow":{
"hpoIds":[
"HP:0000776"
],
"hpoTerm":"Congenital diaphragmatic hernia "
},
"medium":{
"hpoIds":[
"HP:0000775"
],
"hpoTerm":"Abnormality of the diaphragm "
},
"broad":{
"hpoIds":[
"HP:0001438"
],
"hpoTerm":"Abnormality of the abdomen "
},
"affectedStatus":"relative",
"T2C":2
}
],
"hpoCount":8,
"hgvsProteinChange":"p.(T181A)",
"hetCount":10,
"funcAnno":"missense",
"genes":[
{
"entrezId":26235,
"symbol":"FBXL4"
}
],
"homCount":0,
"hgvsCdnaChange":"c.541A>G",
"rsId":"rs150748757",
"href":"VariantGenoPhenoQueryServlet?chr=6&pos=99365567&genotype=T%2FC&rsid=150748757&cadd=11.0&gerp=4.62&polyphen=0.014&esp=5.38E-4&exac=2.61E-4&genome1k=4.58E-4&variantType=snp"
}
Get gnomAD variants information with Entrez gene ID
get
get /geno2mp/gene/entrezId/:entrezId
HTTP status code 200
Body
Media type: application/json
Type: array of object
Items: Geno2mpResponse
- hg19Chr: required(string)
Chromosome (hg19)
- hg19Pos: required(integer)
Position (hg19)
- ref: required(string)
Reference allele
- alt: required(string)
Alternate allele
- homCount: required(number)
- hetCount: required(number)
- funcAnno: required(string)
- hpoCount: required(number)
Number of HPO profiles
- hpoProfiles: required(array of object)
Items: items
- narrow: required(object)
- hpoIds: required(array of string)
- hpoTerm: required(string)
- medium: required(object)
- hpoIds: required(array of string)
- hpoTerm: required(string)
- broad: required(object)
- hpoIds: required(array of string)
- hpoTerm: required(string)
- affectedStatus: required(string)
- narrow: required(object)
- hgvsProteinChange: (string)
- genes: (array of object)
Items: items
- entrezId: required(number)
- symbol: required(string)
- hgvsCdnaChange: (string)
- rsId: (string)
Example:
[
{
"alt":"C",
"hg19Chr":"6",
"hg19Pos":99365567,
"ref":"T",
"hpoProfiles":[
{
"narrow":{
"hpoIds":[
],
"hpoTerm":" "
},
"medium":{
"hpoIds":[
"HP:0000365"
],
"hpoTerm":"Hearing impairment "
},
"broad":{
"hpoIds":[
"HP:0000598"
],
"hpoTerm":"Abnormality of the ear "
},
"affectedStatus":"affected",
"T2C":1
},
{
"narrow":{
"hpoIds":[
],
"hpoTerm":" "
},
"medium":{
"hpoIds":[
"HP:0000708"
],
"hpoTerm":"Behavioral abnormality "
},
"broad":{
"hpoIds":[
"HP:0000707"
],
"hpoTerm":"Abnormality of the nervous system "
},
"affectedStatus":"affected",
"T2C":1
},
{
"narrow":{
"hpoIds":[
"HP:0200134"
],
"hpoTerm":"Epileptic encephalopathy "
},
"medium":{
"hpoIds":[
"HP:0012638"
],
"hpoTerm":"Abnormality of nervous system physiology "
},
"broad":{
"hpoIds":[
"HP:0000707"
],
"hpoTerm":"Abnormality of the nervous system "
},
"affectedStatus":"affected",
"T2C":1
},
{
"narrow":{
"hpoIds":[
"HP:0001249"
],
"hpoTerm":"Intellectual disability "
},
"medium":{
"hpoIds":[
"HP:0012759",
"HP:0000504"
],
"hpoTerm":"Neurodevelopmental abnormality Abnormality of vision "
},
"broad":{
"hpoIds":[
"HP:0000707",
"HP:0000478"
],
"hpoTerm":"Abnormality of the nervous system Abnormality of the eye "
},
"affectedStatus":"affected",
"T2C":1
},
{
"narrow":{
"hpoIds":[
],
"hpoTerm":" "
},
"medium":{
"hpoIds":[
"HP:0000708"
],
"hpoTerm":"Behavioral abnormality "
},
"broad":{
"hpoIds":[
"HP:0000707"
],
"hpoTerm":"Abnormality of the nervous system "
},
"affectedStatus":"relative",
"T2C":2
},
{
"narrow":{
"hpoIds":[
"HP:0200134"
],
"hpoTerm":"Epileptic encephalopathy "
},
"medium":{
"hpoIds":[
"HP:0012638"
],
"hpoTerm":"Abnormality of nervous system physiology "
},
"broad":{
"hpoIds":[
"HP:0000707"
],
"hpoTerm":"Abnormality of the nervous system "
},
"affectedStatus":"relative",
"T2C":1
},
{
"narrow":{
"hpoIds":[
"HP:0001249"
],
"hpoTerm":"Intellectual disability "
},
"medium":{
"hpoIds":[
"HP:0012759",
"HP:0000504"
],
"hpoTerm":"Neurodevelopmental abnormality Abnormality of vision "
},
"broad":{
"hpoIds":[
"HP:0000707",
"HP:0000478"
],
"hpoTerm":"Abnormality of the nervous system Abnormality of the eye "
},
"affectedStatus":"relative",
"T2C":1
},
{
"narrow":{
"hpoIds":[
"HP:0000776"
],
"hpoTerm":"Congenital diaphragmatic hernia "
},
"medium":{
"hpoIds":[
"HP:0000775"
],
"hpoTerm":"Abnormality of the diaphragm "
},
"broad":{
"hpoIds":[
"HP:0001438"
],
"hpoTerm":"Abnormality of the abdomen "
},
"affectedStatus":"relative",
"T2C":2
}
],
"hpoCount":8,
"hgvsProteinChange":"p.(T181A)",
"hetCount":10,
"funcAnno":"missense",
"genes":[
{
"entrezId":26235,
"symbol":"FBXL4"
}
],
"homCount":0,
"hgvsCdnaChange":"c.541A>G",
"rsId":"rs150748757",
"href":"VariantGenoPhenoQueryServlet?chr=6&pos=99365567&genotype=T%2FC&rsid=150748757&cadd=11.0&gerp=4.62&polyphen=0.014&esp=5.38E-4&exac=2.61E-4&genome1k=4.58E-4&variantType=snp"
}
]
/gnomad
Get gnomAD variant information with variant
get
get /gnomad/variant/:variant
HTTP status code 200
Body
Media type: application/json
Type: object
Properties- chr: required(string)
Chromosome
- pos: required(integer)
Position
- ref: required(string)
Reference allele
- alt: required(string)
Alternate allele
- exome: (object)
- alleleCount: required(integer)
- alleleNum: required(integer)
- homCount: required(integer)
Homozygous count
- genome: (object)
- alleleCount: required(integer)
- alleleNum: required(integer)
- homCount: required(integer)
Homozygous count
- transcripts: (array of object)
Items: items
- geneSymbol: required(string)
- geneEnsemblId: required(string)
- ensemblId: required(string)
Example:
{
"transcripts":[
{
"geneSymbol":"FBXL4",
"geneEnsemblId":"ENSG00000112234",
"ensemblId":"ENST00000369244"
},
{
"geneSymbol":"FBXL4",
"geneEnsemblId":"ENSG00000112234",
"ensemblId":"ENST00000229971"
}
],
"chr":"6",
"pos":99365567,
"ref":"T",
"alt":"C",
"exome":{
"alleleCount":68,
"alleleNum":244286,
"homCount":0
},
"genome":{
"alleleCount":5,
"alleleNum":31392,
"homCount":0
},
"lastUpdate":"2020-01-31T21:05:32.062Z",
"__v":0
}
Get gnomAD gene information with Entrez gene ID
get
get /gnomad/gene/entrezId/:entrezId
HTTP status code 200
Body
Media type: application/json
Type: object
Properties- entrezId: required(integer)
- ensemblId: required(string)
- syn: (object)
Synonymous
- exp: required(number)
Expected variant counts
- obs: required(number)
Number of unique variants observed
- z: required(number)
- oe: required(number)
o/e score
- oeLower: required(number)
Lower bound of o/e score
- oeUpper: required(number)
Upper bound of o/e score
- exp: required(number)
- mis: (object)
Missense
- exp: required(number)
Expected variant counts
- obs: required(number)
Number of unique variants observed
- z: required(number)
- oe: required(number)
o/e score
- oeLower: required(number)
Lower bound of o/e score
- oeUpper: required(number)
Upper bound of o/e score
- exp: required(number)
- lof: (object)
- exp: required(number)
Expected variant counts
- obs: required(number)
Number of unique variants observed
- z: required(number)
- pLI: required(number)
- oe: required(number)
o/e score
- oeLower: required(number)
Lower bound of o/e score
- oeUpper: required(number)
Upper bound of o/e score
- exp: required(number)
Get gnomAD gene information by gene symbol
get
get /gnomad/gene/symbol/:geneSymbol
HTTP status code 200
Body
Media type: application/json
Type: object
Properties- entrezId: required(integer)
- ensemblId: required(string)
- syn: (object)
Synonymous
- exp: required(number)
Expected variant counts
- obs: required(number)
Number of unique variants observed
- z: required(number)
- oe: required(number)
o/e score
- oeLower: required(number)
Lower bound of o/e score
- oeUpper: required(number)
Upper bound of o/e score
- exp: required(number)
- mis: (object)
Missense
- exp: required(number)
Expected variant counts
- obs: required(number)
Number of unique variants observed
- z: required(number)
- oe: required(number)
o/e score
- oeLower: required(number)
Lower bound of o/e score
- oeUpper: required(number)
Upper bound of o/e score
- exp: required(number)
- lof: (object)
- exp: required(number)
Expected variant counts
- obs: required(number)
Number of unique variants observed
- z: required(number)
- pLI: required(number)
- oe: required(number)
o/e score
- oeLower: required(number)
Lower bound of o/e score
- oeUpper: required(number)
Upper bound of o/e score
- exp: required(number)
/dgv
Get DGV information with variant
get
get /dgv/variant/:variant
HTTP status code 200
Body
Media type: application/json
Type: array of object
Items: DgvResponse
- hg19Chr: required(string)
Chromosome (hg19)
- hg19Start: required(integer)
Variant start position (hg19)
- hg19Stop: required(integer)
Variant stop position (hg19)
- type: required(string)
- subType: required(string)
- gain: required(number)
- loss: required(number)
- sampleSize: required(number)
- reference: (string)
- genes: (array of object)
Items: items
- entrezId: required(number)
- symbol: required(string)
- accession: (string)
- mergedVariants: (string)
- method: (string)
- platform: (string)
- samples: (string)
- supportingVariants: (string)
- mergedOrSample: (string)
- cohortDescription: (string)
Example:
[
{
"hg19Chr":"6",
"hg19Start":98857397,
"hg19Stop":99630038,
"subType":"gain",
"reference":"PMID:21841781",
"accession":"nsv604253",
"mergedVariants":"",
"gain":1,
"method":"Oligo aCGH,SNP array",
"genes":[
{
"entrezId":26235,
"symbol":"FBXL4"
},
{
"entrezId":5454,
"symbol":"POU3F2"
}
],
"type":"CNV",
"loss":0,
"platform":"",
"samples":null,
"supportingVariants":"nssv1069263",
"sampleSize":17421,
"mergedOrSample":"M",
"cohortDescription":""
},
{
"hg19Chr":"6",
"hg19Start":98870602,
"hg19Stop":100266123,
"subType":"loss",
"reference":"PMID:25217958",
"accession":"nsv1029536",
"mergedVariants":"",
"gain":0,
"method":"Oligo aCGH,SNP array",
"genes":[
{
"entrezId":892,
"symbol":"CCNC"
},
{
"entrezId":51805,
"symbol":"COQ3"
},
{
"entrezId":84553,
"symbol":"FAXC"
},
{
"entrezId":26235,
"symbol":"FBXL4"
},
{
"entrezId":25957,
"symbol":"PNISR"
},
{
"entrezId":5454,
"symbol":"POU3F2"
},
{
"entrezId":59336,
"symbol":"PRDM13"
},
{
"entrezId":100130890,
"symbol":"TSTD3"
},
{
"entrezId":85015,
"symbol":"USP45"
}
],
"type":"CNV",
"loss":1,
"platform":"",
"samples":null,
"supportingVariants":"nssv3649847",
"sampleSize":29084,
"mergedOrSample":"M",
"cohortDescription":""
}
]
Get DGV information with Entrez gene ID
get
get /dgv/gene/entrezId/:entrezId
HTTP status code 200
Body
Media type: application/json
Type: array of object
Items: DgvResponse
- hg19Chr: required(string)
Chromosome (hg19)
- hg19Start: required(integer)
Variant start position (hg19)
- hg19Stop: required(integer)
Variant stop position (hg19)
- type: required(string)
- subType: required(string)
- gain: required(number)
- loss: required(number)
- sampleSize: required(number)
- reference: (string)
- genes: (array of object)
Items: items
- entrezId: required(number)
- symbol: required(string)
- accession: (string)
- mergedVariants: (string)
- method: (string)
- platform: (string)
- samples: (string)
- supportingVariants: (string)
- mergedOrSample: (string)
- cohortDescription: (string)
Example:
[
{
"hg19Chr":"6",
"hg19Start":98857397,
"hg19Stop":99630038,
"subType":"gain",
"reference":"PMID:21841781",
"accession":"nsv604253",
"mergedVariants":"",
"gain":1,
"method":"Oligo aCGH,SNP array",
"genes":[
{
"entrezId":26235,
"symbol":"FBXL4"
},
{
"entrezId":5454,
"symbol":"POU3F2"
}
],
"type":"CNV",
"loss":0,
"platform":"",
"samples":null,
"supportingVariants":"nssv1069263",
"sampleSize":17421,
"mergedOrSample":"M",
"cohortDescription":""
},
{
"hg19Chr":"6",
"hg19Start":98870602,
"hg19Stop":100266123,
"subType":"loss",
"reference":"PMID:25217958",
"accession":"nsv1029536",
"mergedVariants":"",
"gain":0,
"method":"Oligo aCGH,SNP array",
"genes":[
{
"entrezId":892,
"symbol":"CCNC"
},
{
"entrezId":51805,
"symbol":"COQ3"
},
{
"entrezId":84553,
"symbol":"FAXC"
},
{
"entrezId":26235,
"symbol":"FBXL4"
},
{
"entrezId":25957,
"symbol":"PNISR"
},
{
"entrezId":5454,
"symbol":"POU3F2"
},
{
"entrezId":59336,
"symbol":"PRDM13"
},
{
"entrezId":100130890,
"symbol":"TSTD3"
},
{
"entrezId":85015,
"symbol":"USP45"
}
],
"type":"CNV",
"loss":1,
"platform":"",
"samples":null,
"supportingVariants":"nssv3649847",
"sampleSize":29084,
"mergedOrSample":"M",
"cohortDescription":""
}
]
/decipher
Get DECIPHER control data with variant
get
get /decipher/variant/:variant
HTTP status code 200
Body
Media type: application/json
Type: array of object
Items: DecipherResponse
- hg19Chr: required(string)
Chromosome (hg19)
- hg19Start: required(integer)
Variant start position (hg19)
- hg19Stop: required(integer)
Variant stop position (hg19)
- study: required(string)
- sampleSize: required(integer)
- duplication: (object)
- obs: required(integer)
- freq: required(number)
- std: required(number)
- deletion: (object)
- obs: required(integer)
- freq: required(number)
- std: required(number)
- obs: required(integer)
- freq: required(number)
- std: required(number)
Example:
[
{
"hg19Chr":"6",
"hg19Start":60073,
"hg19Stop":76462,
"study":"42M calls",
"duplication":{
"std":0.174801475,
"obs":18,
"freq":0.45
},
"sampleSize":40,
"deletion":{
"std":1,
"obs":0,
"freq":0
},
"freq":0.45,
"std":0.174801475,
"obs":18,
"cnvType":1
},
{
"hg19Chr":"6",
"hg19Start":60073,
"hg19Stop":151563,
"study":"42M calls",
"duplication":{
"std":0.227866358,
"obs":13,
"freq":0.325
},
"sampleSize":40,
"deletion":{
"std":1,
"obs":0,
"freq":0
},
"freq":0.325,
"std":0.227866358,
"obs":13,
"cnvType":1
}
]
Get DECIPHER control data with genomic location (hg19)
get
get /decipher/genomloc/:hg19Chr/:hg19Start/:hg19Stop
HTTP status code 200
Body
Media type: application/json
Type: array of object
Items: DecipherResponse
- hg19Chr: required(string)
Chromosome (hg19)
- hg19Start: required(integer)
Variant start position (hg19)
- hg19Stop: required(integer)
Variant stop position (hg19)
- study: required(string)
- sampleSize: required(integer)
- duplication: (object)
- obs: required(integer)
- freq: required(number)
- std: required(number)
- deletion: (object)
- obs: required(integer)
- freq: required(number)
- std: required(number)
- obs: required(integer)
- freq: required(number)
- std: required(number)
Example:
[
{
"hg19Chr":"6",
"hg19Start":60073,
"hg19Stop":76462,
"study":"42M calls",
"duplication":{
"std":0.174801475,
"obs":18,
"freq":0.45
},
"sampleSize":40,
"deletion":{
"std":1,
"obs":0,
"freq":0
},
"freq":0.45,
"std":0.174801475,
"obs":18,
"cnvType":1
},
{
"hg19Chr":"6",
"hg19Start":60073,
"hg19Stop":151563,
"study":"42M calls",
"duplication":{
"std":0.227866358,
"obs":13,
"freq":0.325
},
"sampleSize":40,
"deletion":{
"std":1,
"obs":0,
"freq":0
},
"freq":0.325,
"std":0.227866358,
"obs":13,
"cnvType":1
}
]
/diopt
get
get /diopt/ortholog/gene/entrezId/:entrezId
HTTP status code 200
Body
Media type: application/json
Type: array of object
Items: DioptOrtholog
- taxonId2: required(number)
The taxonomy ID of the ortholog gene
- entrezId2: required(number)
The Entrez gene ID of the ortholog gene
- gene2: required(object)
- entrezId: required(integer)
- symbol: required(string)
- xref: required(object)
- gos: (array of GO)
Experiment based GO terms
Items: GO
- goId: required(string)
- ontology: required(object)
- id: required(string)
Gene ontology ID
- namespace: required(string)
Either
molecular_function,biological_process, orcellular_component. - name: required(string)
- agrSlimGoId: (string)
- id: required(string)
- eviCode: required(string)
Evidence code in abbreviation. The list of the evidence codes used is on http://geneontology.org/docs/guide-go-evidence-codes
- references: (array of string)
- date: (string)
- assignedBy: (string)
- phenotypes: (array of Phenotype)
Items: Phenotype
- id: required(string)
- ontology: required(object)
- id: required(string)
- name: required(string)
- categories: required(array of object)
Items: items
- id: required(integer)
MARRVEL assigned category ID
- name: required(string)
MARRVEL assigned category name
- id: required(integer)
- score: required(integer)
DIOPT score that indicates the number of individual ortholog prediction tools that report a given ortholog pair.
- bestScore: required(boolean)
if the gene scored the best among other ortholog genes then
true, otherwise,false. - bestScoreRev: required(boolean)
If the given gene is the best scored ortholog gene of the gene then
true, otherwise,false.
Example:
[
{
"score": 1,
"bestScore": false,
"taxonId2": 10090,
"entrezId1": 26235,
"confidence": "low",
"entrezId2": 30840,
"taxonId1": 9606,
"bestScoreRev": false,
"gene1": {
"entrezId": 26235,
"symbol": "FBXL4"
},
"gene2": {
"entrezId": 30840,
"symbol": "Fbxl6",
"mgiId": "MGI:1354705",
"xref": {
"mgiId": "MGI:1354705",
"ensemblId": "ENSMUSG00000022559"
},
"gos": [
{
"date": "20180323",
"eviCode": "IBA",
"references": [
"MGI:MGI:6201960",
"PMID:21873635"
],
"assignedBy": "GO_Central",
"goId": "GO:0019005",
"ontology": {
"namespace": "cellular_component",
"id": "GO:0019005",
"name": "SCF ubiquitin ligase complex"
}
},
{
"date": "20180323",
"eviCode": "IBA",
"references": [
"MGI:MGI:6201960",
"PMID:21873635"
],
"assignedBy": "GO_Central",
"goId": "GO:0031146",
"ontology": {
"namespace": "biological_process",
"id": "GO:0031146",
"name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process"
}
},
{
"date": "20180323",
"eviCode": "IBA",
"references": [
"MGI:MGI:6201960",
"PMID:21873635"
],
"assignedBy": "GO_Central",
"goId": "GO:0061630",
"ontology": {
"namespace": "molecular_function",
"name": "ubiquitin protein ligase activity",
"agrSlimGoId": "GO:0016740",
"id": "GO:0061630"
}
}
],
"phenotypes": {
"ontology": null
}
}
}
]
get
get /diopt/alignment/gene/entrezId/:entrezId
HTTP status code 200
Body
Media type: application/json
Type: obeject
Example:
{
"entrezId": 26235,
"data": [
{
"species": "hs",
"sIdx": "",
"style": [
"", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", "", ""
],
"proteins": [
"M", "S", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "P", "V", "F", "P", "M", "L", "T", "V", "L", "T", "M", "F", "Y", "Y", "I", "C", "L", "R", "R", "R", "-", "-", "-", "-", "-", "-", "-", "-", "A", "R", "T", "A", "T", "R", "G", "E", "M", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "M", "N", "T", "H", "R", "A", "I", "E", "S", "N", "S", "Q", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "-", "T", "S", "P", "L", "N", "A", "E", "V", "V", "Q", "Y", "-", "-", "-", "-", "A", "K", "E"
],
"endIdx": 57,
"realIdx": [
1, 2, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, -1, -1, -1, -1, -1, -1, -1, -1, 23, 24, 25, 26, 27, 28, 29, 30, 31, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, -1, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, -1, -1, -1, -1, 55, 56, 57
]
}
],
"domain": [
{
"index": "hs",
"geneName": "FBXL4",
"entrezId": "26235",
"proteinId": "NP_001265645.1",
"domainStart": "504",
"domainStop": "524",
"domainName": "LRR 6",
"domainDescription": "propagated from UniProtKB/Swiss-Prot (Q9UKA2.2)",
"externalId": ""
}
]
}
/gtex
get
get /gtex/gene/entrezId/:entrezId
HTTP status code 200
Body
Media type: application/json
Type: object
Properties- entrezId: required(integer)
- ensemblId: required(string)
- symbol: required(string)
- data: required(object)
- Adipose Tissue: required(object)
- Adipose - Subcutaneous: required(array of )
- Adipose - Visceral (Omentum): required(array of )
- Adrenal Gland: required(object)
- Adrenal Gland: required(array of )
- Blood Vessel: required(object)
- Artery - Aorta: required(array of )
- Artery - Coronary: required(array of )
- Artery - Tibial: required(array of )
- Bladder: required(object)
- Bladder: required(array of )
- Brain: required(object)
- Brain - Amygdala: required(array of )
- Brain - Anterior cingulate cortex (BA24): required(array of )
- Brain - Caudate (basal ganglia): required(array of )
- Brain - Cerebellar Hemispher: required(array of )
- Brain - Cerebellu: required(array of )
- Brain - Cortex: required(array of )
- Brain - Frontal Cortex (BA9): required(array of )
- Brain - Hippocampus: required(array of )
- Brain - Hypothalamus: required(array of )
- Brain - Nucleus accumbens (basal ganglia): required(array of )
- Brain - Putamen (basal ganglia): required(array of )
- Brain - Spinal cord (cervical c-1): required(array of )
- Brain - Substantia nigra: required(array of )
- Breast: required(object)
- Breast - Mammary Tissue: required(array of )
- Blood: required(object)
- Cells - EBV-transformed lymphocytes: required(array of )
- Whole Blood: required(array of )
- Skin: required(object)
- Cells - Transformed fibroblasts: required(array of )
- Skin - Not Sun Exposed (Suprapubic): required(array of )
- Skin - Sun Exposed (Lower leg): required(array of )
- Cervix Uteri: required(object)
- Cervix - Ectocervix: required(array of )
- Cervix - Endocervix: required(array of )
- Colon: required(object)
- Colon - Sigmoid: required(array of )
- Colon - Transverse: required(array of )
- Esophagus: required(object)
- Esophagus - Gastroesophageal Junction: required(array of )
- Esophagus - Mucosa: required(array of )
- Esophagus - Muscularis: required(array of )
- Fallopian Tube: required(object)
- Fallopian Tube: required(array of )
- Heart: required(object)
- Heart - Atrial Appendag: required(array of )
- Heart - Left Ventricle: required(array of )
- Kidney: required(object)
- Kedney - Cortex: required(array of )
- Liver: required(object)
- Liver: required(array of )
- Lung: required(object)
- Lung: required(array of )
- Salivary Gland: required(object)
- Minor Salivary Gland: required(array of )
- Muscle: required(object)
- Muscle - Skeletal: required(array of )
- Nerve: required(object)
- Nerve - Tibial: required(array of )
- Ovary: required(object)
- Ovary: required(array of )
- Pancreas: required(object)
- Pancreas: required(array of )
- Pituitary: required(object)
- Pituitary: required(array of )
- Prostate: required(object)
- Prostate: required(array of )
- Small Intestine: required(object)
- Small Intestine - Terminal Ileum: required(array of )
- Spleen: required(object)
- Spleen: required(array of )
- Stomach: required(object)
- Stomach: required(array of )
- Testis: required(object)
- Testis: required(array of )
- Thyroid: required(object)
- Thyroid: required(array of )
- Uterus: required(object)
- Uterus: required(array of )
- Vagina: required(object)
- Vagina: required(array of )
- Adipose Tissue: required(object)
Example:
{
"entrezId":26235,
"ensemblId":"ENSG00000112234.4", "symbol":"FBXL4", "data":{
"Adipose Tissue":{
"Adipose - Subcutaneous":[
"11.46", "7.892", "11.2", "7.553", "7.562", "9.305", "7.362", "8.553", "9.006", "8.473", "7.32", "7.946", "10.6", "4.733", "6.064", "11.17", "6.162", "8.044", "6.614", "7.351", "8.429", "8.528", "7.025", "9.128", "9.771", "8.695", "10.99", "5.795", "10.42", "5.14", "10.92", "6.588", "9.255", "8.094", "9.82", "9.437", "7.668", "7.265", "7.529", "7.541", "8.099", "8.749", "9.233", "6.451", "5.573", "5.839", "8.079", "5.862", "9.491", "8.686", "9.615", "9.429", "7.016", "8.591", "9.898", "7.625", "8.288", "6.845", "8.186", "7.489", "6.448", "10.82", "7.258", "8.722", "8.838", "9.585", "6.438", "3.865", "6.51", "8.196", "9.717", "4.473", "11.31", "8.814", "6.602", "10.52", "11.52", "11.85", "5.59", "9.785", "8.259", "8.079", "7.428", "8.664", "11.29", "8.201", "9.213", "6.988", "8.516", "8.641", "6.782", "9.976", "4.885", "13.36", "6.873", "9.954", "14.33", "6.657", "9.014", "6.084", "9.743", "9.019", "9.495", "7.144", "6.97", "5.471", "11.05", "9.696", "6.727", "6.841", "8.055", "8.888", "8.411", "7.63", "8.89", "5.501", "8.789", "5.948", "8.794", "8.399", "7.897", "8.538", "8.159", "9.1", "8.371", "7.281", "8.704", "5.382", "10.58", "8.28", "5.301", "8.96", "9.109", "6.05", "7.547", "10.71", "8.147", "6.952", "8.475", "7.582", "7.354", "6.666", "7.664", "9.239", "6.522", "7.599", "9.611", "9.576", "5.964", "6.093", "8.825", "10.86", "8.906", "9.121", "6.471", "8.714", "6.773", "9.426", "8.711", "9.861", "5.863", "6.012", "6.761", "11.59", "8.879", "6.161", "4.053", "9.761", "9.656", "9.457", "7.919", "6.761", "8.986", "9.459", "8.393", "9.91", "7.402", "7.499", "9.387", "10.68", "6.617", "10.29", "8.66", "12.48", "8.566", "6.911", "12.78", "8.785", "7.673", "8.614", "6.923", "8.141", "6.909", "8.937", "8.403", "6.326", "10.61", "6.65", "9.217", "6.987", "11.17", "7.669", "9.406", "8.376", "12.02", "14.54", "9.442", "6.981", "10.16", "6.034", "4.333", "8.134", "9.579", "7.987", "11.23", "5.809", "8.754", "5.59", "9.433", "11.25", "8.629", "5.28", "6.45", "9.52", "10.79", "9.213", "9.23", "9.137", "9.918", "10.11", "9.167", "9.088", "8.168", "10.64", "12.06", "8.253", "10.31", "11.23", "10.36", "6.64", "7.542", "9.426", "8.382", "8.725", "8.912", "10.26", "8.319", "9.533", "7.713", "11.73", "12.18", "5.825", "14.49", "9.296", "11.54", "11.79", "8.101", "7.988", "10.56", "8.609", "5.921", "12.43", "10.45", "8.383", "5.934", "8.014", "10.63", "8.2", "8.427", "10.27", "9.392", "9.733", "9.736", "10.22", "7.811", "6.969", "12.64", "7.538", "6.585", "7.823", "9.64", "9.684", "6.752", "8.275", "8.152", "8.58", "10.43", "7.603", "8.761", "5.879", "11.04", "5.72", "7.23", "9.362", "8.422", "10.14", "9.394", "15.35", "9.889", "9.028", "6.158", "7.828", "12.53", "9.146", "8.037", "7.007", "8.429", "13.55", "10.43", "7.712", "9.179", "7.753", "9.581", "12.64", "8.391", "10.33", "8.87", "4.842", "7.216", "7.187", "8.716", "10.38", "8.142", "10.24", "6.4", "11.16", "11.93", "4.812", "7.963", "5.311", "9.388", "10.56", "12.59", "6.892", "5.636", "8.319", "9.134", "7.603", "9.884", "9.816", "6.907", "9.503", "5.955", "9.177", "12.9", "8.645", "8.111", "5.04", "9.349", "7.163", "8.339", "8.915", "8.282", "8.488", "7.492", "8.552", "5.304", "9.504", "8.748", "6.482", "8.745", "6.89", "8.283", "6.884", "9.882", "9.444", "6.057", "8.473", "8.532", "6.985", "7.479", "6.193", "9.833", "6.811", "7.645", "9.824", "9.094", "7.965", "6.551", "10.51", "5.308", "11.02", "6.63", "8.984", "4.525", "4.548", "8.594", "8.914", "8.885", "8.436", "7.785", "8.544", "10.41", "7.228", "6.839", "7.858", "6.931", "9.502", "8.14", "5.646", "7.135", "10.92", "8.517", "8.236", "9.737", "8.779", "12.93", "7.787", "14.97", "11.68", "7.296", "7.79", "11.09", "6.358", "6.954", "5.545", "6.163", "6.683", "5.404", "7.462", "8.04", "8.278", "9.405", "9.242", "8.401", "11.97", "9.419", "7.858", "6.764", "8.498", "8.051", "6.221", "8.234", "10.86", "8.917", "4.243", "7.48", "8.386", "8.573", "6.194", "7.903", "10.12"
],
"Adipose - Visceral (Omentum)":[
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]
},
"Adrenal Gland":{
"Adrenal Gland":[
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]
},
"Blood Vessel":{
"Artery - Aorta":[
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],
"Artery - Coronary":[
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],
"Artery - Tibial":[
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]
},
"Bladder":{
"Bladder":[
"7.448", "8.992", "8.946", "10.71", "6.384", "11.31", "11.67", "7.291", "6.116", "10.23", "11.42"
]
},
"Brain":{
"Brain - Amygdala":[
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],
"Brain - Anterior cingulate cortex (BA24)":[
"3.224", "2.606", "1.925", "3.577", "1.106", "2.064", "1.438", "1.829", "2.161", "1.366", "3.072", "2.174", "1.849", "2.258", "3.559", "2.329", "2.594", "2.292", "1.987", "1.487", "1.938", "2.148", "2.44", "0.9831", "1.45", "2.39", "3.337", "3.049", "1.678", "2.307", "1.818", "4.708", "2.546", "1.645", "1.415", "2.085", "1.037", "1.643", "2.005", "2.565", "0.8351", "1.82", "2.037", "2.692", "2.884", "2.791", "4.607", "1.634", "2.269", "2.678", "1.427", "1.521", "3.393", "1.879", "1.336", "0.9255", "3.401", "2.361", "1.82", "1.965", "1.845", "1.892", "1.876", "2.568", "2.129", "1.722", "4.381", "1.571", "2.76", "2.244", "4.3", "4.873", "1.787", "3.554", "2.947", "1.628", "2.384", "1.62", "1.792", "2.729", "1.035", "2.403", "1.864", "1.841", "2.568", "3.569", "2.203", "1.779", "4.205", "6.254", "2.822", "6.535", "1.421", "2.364", "5.115", "3.781", "3.707", "4.394", "4.881", "3.066", "2.848", "3.711", "3.729", "1.323", "3.099", "4.223", "3.312", "5.36", "3.12", "4.674", "3.151", "3.584", "2.311", "2.448", "4.005", "2.77", "2.194", "2.574", "2.892", "1.371", "2.297"
],
"Brain - Caudate (basal ganglia)":[
"3.846", "3.58", "2.717", "2.455", "1.147", "1.783", "2.322", "4.303", "2.473", "2.225", "2.793", "1.679", "2.377", "2.208", "1.937", "3.048", "3.991", "1.723", "2.463", "4.369", "3.79", "3.603", "1.87", "2.348", "2.504", "1.801", "1.174", "1.501", "2.255", "3.097", "1.346", "2.365", "2.372", "2.869", "3.778", "1.085", "3.948", "2.623", "3.117", "4.819", "2.175", "3.537", "0.8903", "2.66", "3.28", "2.256", "2.678", "2.393", "2.504", "3.717", "2.437", "2.744", "2.193", "1.91", "1.903", "2.272", "2.469", "3.743", "2.778", "2.691", "4.65", "2.576", "2.754", "1.972", "1.804", "3.431", "3.282", "0.8576", "2.821", "0.605", "1.313", "2.946", "1.609", "4.264", "2.321", "2.403", "2.198", "2.287", "2.129", "1.992", "2.607", "2.674", "1.712", "2.825", "3.001", "3.702", "5.448", "2.99", "1.489", "3.321", "4.956", "4.192", "6.137", "4.238", "2.362", "4.472", "1.332", "2.219", "1.753", "2.733", "1.981", "1.849", "3.51", "1.577", "1.527", "3.427", "2.466", "3.381", "1.615", "3.594", "4.342", "2.048", "3.849", "3.355", "3.063", "3.09", "2.541", "4.124", "2.322", "0.7806", "4.499", "6.733", "2.696", "3.261", "3.991", "3.909", "5.154", "2.95", "2.508", "1.977", "1.744", "3.031", "5.923", "1.804", "3.64", "2.313", "3.279", "2.837", "3.817", "3.769", "5.125", "3.478", "2.594", "5.594", "4.674", "6.26", "3.45", "2.731", "1.613", "3.3", "4.094", "3.14", "3.105", "2.535", "2.887", "2.752", "1.744", "1.734", "2.432", "2.601"
],
"Brain - Cerebellar Hemisphere":[
"7.13", "8.922", "7.632", "4.003", "8.351", "6.456", "7.056", "9.931", "5.4", "4.313", "8.438", "8.889", "8.521", "6.421", "5.691", "8.554", "1.269", "8.919", "2.965", "9.585", "6.035", "1.174", "6.361", "3.393", "8.609", "6.574", "4.074", "6.414", "6.305", "6.326", "5.858", "5.299", "7.392", "6.986", "3.33", "4.251", "5.719", "10.33", "6.947", "7.161", "7.893", "6.709", "8.049", "7.104", "5.514", "2.749", "3.565", "4.815", "5.24", "5.993", "6.848", "5.837", "6.833", "5.136", "5.777", "7.665", "6.696", "6.859", "6.161", "3.611", "7.764", "5.64", "6.366", "5.216", "2.682", "3.926", "9.109", "7.127", "4.808", "2.982", "3.303", "7.106", "7.871", "6.839", "6.421", "9.894", "8.782", "6.489", "3.979", "1.901", "8.075", "2.716", "4.98", "3.209", "10.73", "11.82", "9.425", "4.608", "4.916", "7.819", "8.607", "5.774", "5.383", "7.975", "8.137", "7.042", "4.626", "5.633", "4.195", "5.259", "3.182", "13.31", "9.974", "17.14", "9.837", "10.11", "6.406", "6.945", "6.799", "10.19", "9.078", "14.58", "8.761", "7.886", "4.491", "7.695", "11.08", "5.551", "6.501", "5.465", "4.093", "7.061", "6.899", "3.623", "10.06", "9.036", "6.77", "8.258", "8.902", "8.316", "5.131", "3.629", "1.564", "6.922", "4.857", "6.065"
],
"Brain - Cerebellum":[
"5.477", "4.75", "6.066", "4.398", "5.118", "6.907", "7.945", "5.063", "3.487", "4.975", "5.591", "5.719", "6.605", "8.75", "7.206", "2.044", "4.581", "8.062", "4.594", "4.071", "8.458", "4.396", "6.279", "2.45", "3.159", "6.43", "5.024", "8.454", "4.584", "5.194", "9.054", "6.686", "5.283", "5.551", "5.747", "6.897", "6.006", "4.703", "5.471", "5.088", "6.719", "5.12", "5.646", "5.513", "5.678", "5.195", "6.319", "6.907", "5.715", "6.018", "5.782", "6.953", "6.304", "5.792", "6.515", "4.055", "7.771", "4.417", "5.849", "4.029", "7.164", "4.198", "6.139", "6.244", "5.721", "7.371", "10.17", "7.115", "4.909", "7.626", "6.082", "6.62", "4.042", "7.931", "4.366", "6.011", "6.649", "4.114", "5.544", "7.833", "5.653", "5.88", "6.728", "6.12", "4.097", "7.799", "3.646", "6.619", "4.676", "6.736", "6.136", "7.235", "2.745", "6.204", "6.784", "7.493", "5.275", "6.739", "6.212", "2.044", "7.129", "3.095", "8.618", "6.513", "7.394", "6.422", "7.616", "4.923", "4.65", "4.855", "8.12", "4.595", "5.391", "6.672", "4.64", "7.149", "2.66", "7.088", "4.775", "5.299", "3.575", "5.783", "6.632", "2.342", "6.197", "2.859", "6.321", "7.302", "5.589", "4.545", "3.756", "13.35", "12.84", "4.488", "8.643", "12.79", "10.29", "6.993", "9.582", "5.406", "7.644", "5.424", "9.795", "8.091", "8.224", "6.19", "9.831", "5.812", "5.232", "6.202", "6.268", "5.211", "8.979", "4.615", "3.837", "7.16", "5.37", "3.898", "5.505", "7.357", "5.695", "5.717", "7.257", "5.287", "4.722", "5.349", "5.843", "3.472", "7.451", "5.456", "5.214", "5.879", "5.211"
],
"Brain - Cortex":[
"2.281", "3.315", "2.659", "2.459", "4.351", "2.585", "2.746", "2.538", "2.083", "2.436", "2.828", "2.202", "2.805", "1.489", "2.742", "2.096", "2.788", "2.32", "1.763", "2.681", "2.408", "2.102", "2.537", "2.144", "2.129", "2.316", "2.25", "2.199", "2.853", "3.413", "3.64", "2.811", "1.675", "2.39", "2.952", "2.319", "2.554", "3.674", "2.911", "2.767", "3.557", "2.624", "2.365", "2.759", "2.723", "4.081", "3.099", "1.896", "2.246", "2.64", "2.859", "2.991", "2.21", "3.246", "2.545", "2.106", "2.507", "2.432", "2.312", "2.79", "2.088", "2.385", "2.01", "3.559", "2.724", "3.212", "2.656", "2.675", "2.48", "2.041", "2.713", "3.36", "1.88", "3.827", "2.578", "3.314", "2.051", "2.137", "2.846", "2.428", "2.934", "2.119", "2.092", "2.478", "2.643", "2.767", "2.174", "2.458", "1.508", "1.994", "2.091", "2.157", "2.554", "1.711", "2.195", "3.211", "3.332", "3.902", "2.1", "2.534", "1.522", "3.72", "2.608", "2.74", "4.359", "2.086", "2.259", "2.046", "2.28", "2.233", "0.9032", "1.749", "3.005", "0.9777", "2.135", "1.468", "2.519", "2.505", "4.015", "2.415", "3.76", "1.893", "2.132", "3.208", "4.632", "2.668", "3.861", "3.36", "2.198", "2.432", "2.192", "2.863", "3.914", "5.179", "2.294", "2.888", "2.38", "3.363", "3.413", "3.794", "4.547", "2.815", "1.988", "2.806", "3.146", "2.154", "2.024", "2.436", "3.669", "2.624", "1.985", "2.782", "2.279", "3.093", "2.77", "2.709", "4.641", "3.473"
],
"Brain - Frontal Cortex (BA9)":[
"2.947", "3.64", "2.321", "2.454", "3.377", "2.837", "3.02", "2.807", "2.208", "3.836", "3.413", "3.254", "3.792", "2.231", "4.01", "3.136", "3.087", "2.78", "4.171", "1.012", "3.634", "3.919", "2.065", "3.491", "3.673", "3.19", "3.963", "2.719", "3.055", "2.668", "1.307", "3.277", "3.136", "2.579", "3.919", "2.366", "2.47", "1.345", "2.095", "3.485", "3.417", "3.521", "3.012", "2.179", "2.799", "3.511", "2.063", "2.908", "3.991", "3.396", "2.348", "4.118", "2.689", "4.31", "2.106", "3.111", "2.862", "3.812", "4.056", "1.74", "1.907", "2.194", "2.89", "3.577", "2.916", "3.068", "2.942", "2.4", "4.245", "4.053", "5.153", "3.308", "2.686", "1.737", "2.301", "3.541", "5.323", "3.549", "1.742", "4.177", "1.565", "2.605", "2.832", "2.092", "4.407", "3.296", "4.871", "2.14", "3.482", "3.794", "3.699", "2.537", "2.805", "3.157", "2.395", "5.008", "3.85", "3.245", "1.954", "4.767", "4.029", "8.157", "5.142", "5.753", "4.214", "5.09", "3.011", "5.333", "3.065", "3.862", "5.55", "6.461", "2.104", "3.779", "5.492", "7.445", "3.644", "3.9", "5.305", "4.227", "2.849", "3.96", "4.705", "3.212", "2.923", "1.713", "2.469", "3.946", "1.629"
],
"Brain - Hippocampus":[
"3.608", "1.595", "3.983", "3.172", "2.014", "2.868", "2.325", "2.269", "3.259", "2.996", "2.094", "4.927", "1.591", "3.277", "4.276", "1.779", "2.843", "1.513", "1.328", "2.395", "1.049", "3.088", "0.8413", "2.09", "0.7133", "2.545", "5.444", "4.8", "2.778", "3.674", "3.897", "1.536", "2.705", "1.427", "2.517", "2.617", "1.731", "3.261", "3.419", "6.268", "4.118", "1.964", "1.816", "1.316", "5.93", "4.755", "7.458", "1.514", "2.729", "2.247", "2.979", "2.336", "1.159", "3.06", "1.58", "2.861", "2.712", "3.18", "1.114", "3.007", "1.985", "3.642", "2.659", "1.729", "2.068", "3.924", "2.049", "1.745", "3.05", "6.619", "1.792", "3.583", "2.807", "3.282", "3.457", "2.067", "4.372", "2.428", "1.214", "1.806", "2.706", "2.34", "2.389", "1.475", "6.392", "2.664", "3.461", "0.9771", "2.477", "3.684", "1.216", "4.506", "4.348", "2.506", "3.982", "3.613", "4.076", "3.512", "9.697", "2.534", "2.973", "2.473", "2.08", "6.006", "1.978", "6.673", "2.109", "4.13", "1.635", "3.788", "5.638", "3.176", "4.856", "4.651", "1.567", "2.569", "1.438", "4.899", "2.623", "0.7817", "1.284", "3.296", "1.368"
],
"Brain - Hypothalamus":[
"3.502", "5.326", "3.748", "3.39", "3.785", "1.086", "1.945", "7.101", "3.824", "3.3", "4.609", "2.362", "3.549", "5.464", "1.1", "1.896", "4.046", "3.479", "4.67", "3.742", "3.603", "3.043", "6.694", "1.861", "3.031", "3.033", "4.195", "2.275", "1.329", "3.309", "3.026", "4.753", "2.771", "2.883", "2.064", "2.239", "5.732", "4.901", "1.529", "2.035", "3.485", "1.891", "3.908", "5.067", "3.37", "3.545", "2.709", "5.259", "1.485", "6.118", "3.568", "4.506", "2.381", "1.683", "3.882", "2.27", "4.59", "3.427", "4.806", "3.727", "2.771", "4.397", "3.582", "6.851", "3.27", "4.756", "3.822", "4.053", "2.503", "1.732", "6.755", "4.52", "4.54", "2.726", "4.434", "3.981", "3.57", "2.051", "5.4", "1.633", "1.752", "3.986", "5.923", "3.506", "1.902", "3.826", "5.949", "8.086", "4.788", "5.745", "3.125", "4.869", "10.95", "4.314", "7.727", "4.171", "5.098", "4.95", "3.949", "5.117", "3.683", "3.234", "2.89", "3.657", "5.942", "4.831", "4.305", "0.9621", "9.019", "8.774", "8.227", "4.081", "3.255", "5.108", "5.094", "3.519", "1.683", "3.631", "3.463", "2.384", "2.384"
],
"Brain - Nucleus accumbens (basal ganglia)":[
"2.927", "2.009", "2.455", "1.59", "0.797", "2.931", "3.952", "1.612", "1.625", "1.989", "2.02", "1.429", "3.136", "3.332", "2.047", "2.433", "3.042", "4.433", "1.096", "3.309", "2.761", "0.7431", "2.626", "1.319", "1.413", "2.417", "3.461", "3.701", "2.793", "0.601", "2.88", "1.565", "2.979", "2.898", "2.65", "3.756", "2.386", "3.264", "2.469", "3.021", "2.84", "2.166", "4.35", "1.875", "0.9908", "0.8759", "2.609", "3.885", "1.872", "1.509", "3.779", "4.058", "3.162", "4.362", "1.581", "3.094", "2.295", "3.695", "1.691", "3.899", "1.128", "3.347", "3.683", "2.478", "3.398", "3.559", "4.124", "2.879", "2.704", "2.723", "2.966", "4.538", "1.452", "3.736", "3.394", "2.511", "4.221", "4.179", "3.698", "3.568", "4.401", "2.452", "2.55", "1.064", "5.287", "0.9985", "3.962", "1.057", "2.881", "3.013", "3.351", "1.789", "1.648", "3.362", "3.677", "1.369", "1.997", "4.132", "4.16", "0.6871", "3.913", "3.775", "3.903", "3.159", "3.386", "4.802", "2.503", "4.618", "3.339", "4.87", "5.474", "5.677", "3.13", "3.616", "2.473", "1.389", "3.481", "3.564", "3.144", "5.74", "3.203", "3.744", "2.017", "5.053", "4.388", "5.143", "3.069", "1.307", "3.648", "0.3972", "3.717", "3.952", "3.619", "3.841", "4.69", "2.968", "4.382", "3.931", "2.612", "1.626", "2.232", "3.309", "5.36", "1.362", "1.406", "3.707", "2.654"
],
"Brain - Putamen (basal ganglia)":[
"3.617", "2.077", "2.386", "1.372", "2.609", "3.794", "2.3", "0.7204", "1.686", "2.58", "1.443", "1.426", "2.609", "3.757", "2.376", "3.143", "2.503", "3.808", "2.235", "0.6271", "2.977", "1.719", "1.658", "1.733", "1.173", "2.815", "3.166", "2.904", "2.881", "1.833", "1.275", "2.62", "2.867", "2.357", "1.878", "2.372", "3.142", "1.178", "1.641", "3.095", "1.926", "2.101", "2.603", "3.591", "1.582", "3.217", "4.043", "2.601", "2.43", "1.953", "1.984", "1.357", "3.394", "1.61", "3.671", "1.764", "3.431", "2.096", "1.984", "2.319", "3.185", "0.9969", "2.954", "1.105", "2.252", "2.341", "2.991", "3.609", "2.206", "1.929", "3.43", "2.943", "2.425", "3.114", "1.406", "2.086", "0.9596", "1.704", "1.648", "1.483", "1.073", "1.96", "1.829", "1.745", "3.618", "3.658", "2.282", "0.9321", "2.267", "2.653", "1.788", "2.195", "1.401", "3.206", "5.567", "3.338", "2.904", "3.326", "1.35", "2.523", "2.286", "4.561", "1.878", "1.629", "1.944", "1.587", "3.987", "2.899", "1.406", "2.631", "2.133", "2.143", "1.43", "2.091", "3.939", "1.269", "1.505", "2.31", "1.657", "3.144", "1.302", "0.9059", "4.218", "1.565"
],
"Brain - Spinal cord (cervical c-1)":[
"4.012", "2.842", "2.857", "6.47", "2.815", "8.351", "3.738", "4.637", "6.318", "5.651", "6.129", "5.757", "7.316", "2.201", "3.642", "2.749", "3.075", "8.901", "5.966", "6.109", "8.29", "3.327", "5.077", "5.748", "1.244", "2.999", "4.939", "6.271", "2.077", "8.005", "3.836", "4.91", "9.08", "3.629", "4.673", "7.37", "7.349", "3.089", "8.553", "8.018", "3.753", "9.981", "8.852", "7.588", "4.934", "8.989", "6.41", "5.409", "7.709", "8.063", "8.731", "6.342", "12.51", "6.266", "8.77", "10.12", "8.407", "7.29", "3.689", "12", "7.923", "8.965", "10.29", "5.527", "8.543", "4.194", "3.421", "6.12", "5.819", "6.115", "3.985", "2.532", "8.319", "4.913", "7.345", "6.008", "11.03", "2.523", "7.612", "5.041", "3.544", "9.155", "6.358", "2.423", "12.81", "7.8", "6.505", "6.56", "8.87", "5.267", "5.601"
],
"Brain - Substantia nigra":[
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]
},
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]
},
"Blood":{
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],
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]
},
"Skin":{
"Cells - Transformed fibroblasts":[
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],
"Skin - Not Sun Exposed (Suprapubic)":[
"8.132", "4.349", "5.65", "5.33", "6.861", "5.34", "5.778", "8.111", "4.354", "6.22", "4.151", "3.73", "4.756", "9.298", "5.759", "8.582", "5.979", "8.2", "8.188", "7.154", "4.598", "6.651", "6.069", "6.223", "3.485", "6.555", "6.539", "6.131", "3.966", "7.241", "11.19", "4.888", "6.974", "7.06", "4.732", "5.139", "7.193", "5.591", "6.061", "6.201", "6.122", "7.291", "9.396", "4.813", "7.607", "9.233", "8.783", "11.61", "7.772", "5.536", "6.326", "2.975", "3.46", "7.462", "9.882", "8.229", "6.827", "7.63", "4.864", "7.816", "8.387", "6.101", "11.51", "7.93", "6.788", "4.331", "4.818", "7.183", "8.66", "6.169", "7.347", "8.015", "5.203", "3.297", "6.297", "10.82", "8.839", "5.966", "7.975", "6.589", "7.242", "5.556", "7.019", "5.723", "9.494", "10.04", "7.048", "4.729", "7.78", "7.237", "5.934", "11.42", "9.744", "7.636", "7.966", "11.24", "8.475", "7.244", "8.407", "9.804", "8.702", "7.293", "11.1", "4.621", "5.607", "8.382", "5.258", "4.686", "9.219", "7.044", "9.118", "10.76", "9.776", "7.985", "6.82", "7.786", "7.716", "9.771", "9.599", "7.168", "9.962", "7.384", "7.269", "8.376", "9.228", "6.741", "7.416", "9.721", "11.82", "9.505", "8.766", "7.536", "11.33", "6.943", "8.571", "8.127", "5.505", "10.57", "4.856", "11.2", "4.917", "8.192", "11.07", "5.105", "9.205", "6.455", "7.448", "9.147", "8.405", "5.567", "8.239", "12.62", "7.094", "6.029", "5.053", "12", "6.948", "8.453", "6.916", "7.938", "6.994", "10.32", "10.25", "7.224", "8.641", "11.02", "4.266", "4.327", "7.431", "6.084", "4.607", "8.67", "11.15", "8.426", "5.422", "4.276", "7.789", "10.22", "2.875", "7.339", "7.954", "7.472", "8.667", "6.517", "4.46", "9.025", "5.945", "6.438", "8.69", "5.788", "5.448", "9.492", "7.774", "7.65", "7.418", "9.482", "6.807", "9.33", "6.382", "8.28", "6.973", "4.435", "3.294", "4.925", "6.17", "6.247", "10.9", "5.19", "4.913", "6.513", "9.048", "7.536", "7.006", "4.483", "7.338", "9.307", "7.147", "6.749", "9.135", "7.999", "7.811", "7.985", "6.001", "3.895", "5.539", "4.03", "8.531", "9.369", "6.357", "3.694", "9.617", "5.238", "10.3", "7.172", "12.5", "7.248", "8.381", "13.79", "6.867", "6.179", "7.24", "7.523", "10.65", "7.446", "5.985", "5.932", "6.567", "6.996", "6.924", "9.286", "10.11", "9.744", "9.043", "10.04", "5.069", "8.27", "5.923", "5.959", "10.27", "9.344", "11.69", "9.633", "5.448", "7.192", "8.507", "6.23", "11.34", "4.516", "9.467", "6.088", "6.959", "10.05", "8.352", "10.82", "9.397", "9.924", "11.83", "10.24", "9.256", "7.711", "7.764", "9.12", "7.803", "8.454", "8.556", "8.239", "5.595", "5.595", "3.639", "3.914", "6.204", "3.938", "5.93", "6.081", "4.937", "6.87", "4.144", "8.674", "9.446", "4.742", "6.674", "12.48", "7.069", "9.608", "4.459", "8.367", "8.149", "3.555", "5.308", "5.463", "6.491", "7.064", "7.335", "3.844", "6.234", "9.807", "5.36", "4.174", "5.806", "5.881", "5.339", "7.95", "5.366", "6.293", "5.555", "2.414", "4.192", "4.969", "8.169", "12.42", "5.397", "6.004", "5.601", "4.62", "6.51", "5.242", "5.723", "7.238", "6.98", "5.48", "6.662", "6.05", "5.487", "6.329", "5.64", "6.445", "7.018", "5.177", "5.159", "7.18", "5.241", "7.015", "9.351", "5.867", "6.018", "4.793", "4.551", "7.352", "4.652", "3.928", "3.938", "6.336", "4.823", "4.62", "7.72", "2.519", "4.721", "7.106", "8.779", "11.54", "3.459", "7.23", "7.942", "8.704", "5.064", "7.967", "8.393", "4.263", "7.76", "5.129", "5.057", "8.23", "6.485", "6.352", "7.507", "6.017", "6.041"
],
"Skin - Sun Exposed (Lower leg)":[
"5.68", "5.734", "6.156", "6.239", "7.553", "7.789", "5.002", "5.66", "8.134", "7.898", "8.897", "8.914", "6.222", "10.19", "3.795", "3.992", "5.029", "10.06", "4.81", "10.16", "9.132", "5.297", "7.067", "6.283", "6.378", "8.853", "7.646", "6.124", "9.005", "4.913", "9.606", "5.708", "9.641", "5.69", "5.858", "6.964", "4.045", "3.22", "8.54", "8.949", "10.04", "7.266", "8.336", "4.431", "8.869", "8.592", "9.046", "4.668", "3.476", "8.455", "7.224", "6.053", "8.315", "7.833", "9.484", "7.179", "10.63", "4.676", "9.021", "6.047", "4.826", "5.302", "9.984", "11.67", "7.202", "8.763", "6.353", "5.767", "8.389", "7.362", "5.046", "7.716", "6.061", "7.971", "5.581", "5.575", "6.88", "5.417", "4.188", "7.919", "6.115", "8.824", "1.843", "5.91", "10.15", "7.849", "5.185", "8.125", "9.752", "5.731", "3.634", "9.273", "9.422", "6.345", "8.49", "7.131", "4.207", "7.004", "5.378", "5.367", "5.945", "8.091", "8.642", "7.752", "8.653", "10.4", "7.772", "8.859", "8.64", "5.766", "8.086", "6.127", "5.454", "5.73", "5.464", "7.991", "6.924", "8.658", "7.315", "7.241", "6.141", "7.155", "7.362", "8.552", "6.492", "6.937", "8.771", "7.593", "2.376", "5.805", "6.053", "6.089", "5.862", "7.811", "8.009", "8.804", "10.64", "9.856", "10.43", "6.303", "9.853", "7.043", "7.348", "11.06", "6.116", "6.268", "6.421", "9.581", "5.279", "8.513", "7.551", "9.281", "6.323", "6.856", "9.326", "7.134", "4.459", "6.412", "6.055", "4.893", "7.722", "6.305", "10.1", "6.391", "10.43", "8.789", "9.359", "4.41", "6.05", "7.573", "8.018", "8.563", "8.764", "8.767", "9.976", "5.89", "10.59", "8.397", "11.92", "6.622", "3.014", "6.395", "11.71", "12.84", "5.301", "7.578", "8.958", "7.394", "8.21", "15.51", "6.175", "5.697", "7.137", "8.122", "6.325", "5.631", "9.707", "5.312", "8.131", "8.417", "9.686", "8.472", "6.809", "8.365", "7.597", "5.295", "6.48", "10.82", "9.838", "11.09", "4.023", "6.565", "3.827", "8.087", "7.736", "4.081", "6.658", "4.412", "9.746", "13.33", "8.828", "6.421", "4.793", "10.29", "9.945", "9.003", "7.688", "6.034", "7.465", "9.914", "7.183", "11.96", "5.119", "4.895", "9.045", "8.462", "10.71", "7.859", "5.457", "5.512", "6.628", "9.058", "7.377", "7.146", "6.333", "7.398", "8.906", "11.42", "6.837", "6.517", "5.65", "7.418", "4.83", "7.441", "5.701", "6.315", "7.246", "7.412", "10.24", "7.45", "7.749", "10.43", "6.348", "8.091", "13.69", "5.023", "8.542", "7.878", "10.42", "8.615", "7.059", "12.84", "7.459", "7.743", "9.809", "7.673", "9.156", "12.08", "8.31", "9.935", "6.936", "7.169", "6.319", "8.332", "10", "4.792", "4.354", "5.66", "4.279", "3.789", "5.492", "6.249", "5.724", "8.155", "8.88", "5.082", "7.686", "7.036", "7.884", "12.37", "5.651", "5.062", "3.991", "6.056", "5.497", "6.099", "3.237", "8.204", "11.97", "5.655", "9.036", "5.233", "10.39", "4.886", "3.965", "3.959", "6.364", "8.454", "6.529", "8.949", "4.879", "3.58", "6.09", "6.432", "5.798", "4.538", "8.655", "7.824", "6.539", "7.572", "8.629", "6.332", "5.429", "6.647", "5.233", "8.205", "8.502", "9.671", "4.316", "7.974", "4.644", "5.825", "6.909", "6.186", "9.687", "8.127", "6.27", "3.68", "4.57", "7.156", "4.228", "8.56", "8.484", "6.604", "6.756", "9.576", "3.485", "8.903", "7.169", "5.372", "9.662", "4.262", "4.658", "5.593", "5.292", "8.514", "11.62", "10.06", "8.33", "7.867", "7.347", "7.624", "10.66", "5.966", "3.288", "9.451", "6.736", "6.843", "7.957", "5.914", "6.785", "5.217", "8.425", "6.006", "9.009", "6.339", "5.964", "5.174", "5.205", "5.976", "5.926", "7.574", "7.515", "4.759", "3.482", "6.521", "8.151", "7.569", "10.61", "6.945", "5.125", "6.44", "7.389", "5.887", "3.529", "9.347", "5.273", "5.692", "5.025", "4.016", "4.833", "2.065", "6.715", "10.7", "6.02", "5.087", "8.073", "10.27", "5.573", "5.189", "5.798", "11.49", "6.709", "8.915", "6.516", "4.719", "4.961", "11.5", "5.563", "8.679", "3.812", "8.316", "9.434", "5.535", "8.687", "6.902", "4.568", "6.135", "7.97", "8.37", "8.673", "9.199", "5.17", "2.316", "9.425", "7.486", "6.369", "6.852", "8.979", "6.098", "5.51", "13.05", "6.433", "7.914", "11.18", "5.054", "9.086", "8.018", "4.716", "3.874", "6.62", "5.963", "4.603", "11.9", "6.268", "7.157", "3.928", "4.383", "7.47", "7.803", "8.029", "8.805", "11.4"
]
},
"Cervix Uteri":{
"Cervix - Ectocervix":[
"7.854", "11.27", "9.937", "7.62", "8.469", "4.99"
],
"Cervix - Endocervix":[
"9.888", "11.63", "10.33", "9.857", "10.17"
]
},
"Colon":{
"Colon - Sigmoid":[
"5.598", "8.061", "7.393", "7.301", "7.589", "6.374", "4.832", "5.049", "7.912", "4.573", "5.866", "4.683", "6.003", "5.968", "6.912", "5.536", "5.453", "5.588", "5.393", "4.524", "5.937", "9.054", "5.358", "5.237", "7.092", "5.117", "6.235", "5.391", "6.701", "8.751", "7.218", "6.665", "4.125", "6.966", "4.75", "8.586", "5.832", "8.107", "7.663", "5.702", "6.677", "8.964", "6.461", "7.909", "7.657", "5.276", "7.53", "4.079", "8.29", "6.515", "6.234", "4.584", "5.098", "6.147", "5.901", "6.77", "7.021", "5.168", "7.353", "9.992", "3.931", "7.386", "5.605", "6.266", "8.667", "9.274", "6.804", "7.029", "5.113", "7.459", "6.516", "6.793", "5.855", "12.1", "5.684", "9.526", "8.876", "3.354", "8.446", "4.752", "8.986", "6.672", "9.027", "5.687", "9.01", "10.48", "9.931", "6.928", "6.504", "7.896", "5.07", "7.189", "8.363", "5.515", "7.723", "6.472", "4.555", "8.355", "12.53", "10.18", "10.37", "4.697", "6.056", "4.755", "5.396", "6.251", "6.365", "7.446", "8.066", "7.004", "6.965", "7.129", "9.454", "4.804", "8.694", "4.721", "11.14", "6.872", "6.241", "8.808", "9.063", "7.628", "4.465", "6.963", "7.552", "6.499", "6.86", "5.759", "6.756", "8.883", "5.836", "3.956", "8.676", "7.379", "5.588", "9.862", "6.923", "8.3", "8.041", "7.555", "9", "4.56", "4.041", "6.653", "8.211", "6.618", "6.943", "4.865", "6.886", "7.495", "8.324", "10.53", "8.769", "6.005", "6.911", "7.33", "5.934", "6.223", "7.47", "4.637", "7.183", "5.143", "5.301", "7.483", "5.484", "6.346", "7.522", "4.458", "5.463", "6.696", "7.388", "9.336", "6.792", "6.49", "4.304", "5.126", "8.726", "8.687", "5.375", "6.915", "5.068", "6.242", "6.212", "7.297", "6.315", "11.21", "5.786", "7.346", "5.457", "5.666", "4.405", "6.755", "5.335", "6.651", "4.465", "5.796", "7.79", "8.021", "5.67", "3.364", "8.59", "8.396", "7.71", "10.09", "3.246", "5.045", "5.841", "8.466", "4.365", "3.562", "8.562", "4.616", "6.836", "6.465", "5.494", "6.651", "5.274", "6.997", "5.237", "5.624", "8.179", "6.218", "5.126", "6.761", "9.657", "1.888", "5.476", "5.452", "2.062", "6.742", "5.097", "9.156", "5.19"
],
"Colon - Transverse":[
"3.312", "6.466", "8.039", "6.169", "7.327", "2.029", "7.814", "3.372", "5.038", "4.334", "3.928", "4.217", "3.804", "2.76", "5.925", "6.107", "6.938", "5.207", "9.522", "4.38", "4.551", "8.251", "5.983", "5.624", "5.3", "6.4", "3.94", "4.618", "4.432", "8.33", "5.159", "9.315", "8.081", "3.059", "4.255", "3.714", "6.234", "5.906", "6.195", "2.805", "3.398", "3.456", "4.777", "4.139", "6.567", "7.797", "4.718", "4.919", "8.229", "3.957", "5.344", "7.326", "11.18", "5.584", "6.215", "4.225", "4.854", "7.509", "6.038", "6.71", "3.476", "4.86", "3.397", "4.676", "7.015", "6.05", "6.752", "3.461", "7.034", "3.385", "5.218", "8.573", "5.23", "6.914", "5.262", "6.83", "3.567", "5.239", "5.194", "6.255", "7.831", "8.9", "7.2", "4.594", "7.106", "6.314", "4.735", "8.857", "4.846", "8.929", "3.681", "5.986", "4.655", "4.591", "4.715", "2.093", "3.306", "5.461", "5.466", "8.462", "6.59", "2.349", "4.279", "2.642", "7.305", "11", "5.015", "4.015", "6.251", "3.271", "5.881", "5.917", "6.1", "5.663", "4.929", "7.041", "7.78", "6.842", "4.661", "6.281", "8.889", "4.926", "4.657", "3.924", "7.139", "9.498", "5.771", "5.26", "3.447", "3.773", "6.341", "5.978", "5.487", "5.847", "6.139", "7.494", "8.494", "4.745", "4.595", "4.07", "7.355", "7.712", "4.007", "3.437", "6.048", "6.178", "6.375", "4.652", "5.357", "6.193", "6.008", "4.133", "4.187", "5.808", "7.099", "7.159", "4.757", "10.32", "3.024", "6.397", "8.959", "5.197", "5.348", "6.029", "6.472", "6.019", "4.075", "4.962", "4.162", "3.657", "1.927", "4.555", "5.363", "3.633", "3.973", "4.505", "4.074", "3.315", "3.926", "6.079", "6.061", "3.939", "3.39", "3.824", "6.76", "4.211", "4.34", "5.453", "5.086", "4.714", "7.144", "7.858", "6.284", "3.949", "4.388", "5.592", "5.776", "5.309", "3.665", "3.097", "3.327", "7.343", "7.049", "4.508", "3.916", "11.07", "4.047", "5.327", "3.945", "3.32", "4.788", "10.54", "4.124", "4.038", "4.385", "4.903", "3.486", "4.139", "5.301", "5.792", "3.822", "7.358", "10.38", "5.662", "6.09", "4.058", "5.291", "5.734", "3.21", "2.523", "3.977", "4.215", "3.207", "5.805", "5.005", "3.682", "4.145", "10.29", "3.942", "6.376", "3.431", "3.456", "5.857", "5.109", "6.684", "3.105", "4.392", "4.295", "4.593", "4.099", "6.372", "7.216", "3.159", "5.112", "4.655", "5.397", "4.927", "5.349", "4.709", "4.941", "3.997", "3.977", "2.57", "5.028", "9.858", "5.982", "3.686", "4.562", "5.86", "3.782", "7.413", "6.131", "7.655", "4.519"
]
},
"Esophagus":{
"Esophagus - Gastroesophageal Junction":[
"5.137", "5.51", "5.709", "2.99", "7.41", "5.181", "5.867", "5.259", "7.126", "4.305", "4.708", "5.233", "3.939", "6.017", "4.832", "5.31", "6.672", "4.137", "4.507", "3.995", "5.362", "6.56", "7.51", "4.691", "3.475", "5.948", "5.581", "5.053", "8.01", "2.439", "6.291", "6.756", "4.836", "4.937", "7.097", "5.101", "5.187", "7.873", "5.765", "4.784", "3.99", "4.57", "4.16", "4.394", "5.393", "5.664", "7.349", "6.229", "4.071", "4.551", "4.89", "6.673", "6.775", "5.749", "8.476", "5.378", "4.399", "6.829", "6.663", "5.467", "8.491", "4.326", "6.966", "4.245", "5.419", "7.604", "5.46", "5.612", "4.847", "5.32", "5.729", "4.401", "7.339", "6.199", "5.426", "3.82", "10.79", "7.003", "2.511", "9.433", "4.797", "7.864", "9.627", "4.93", "6.538", "9.36", "7.356", "4.041", "4.971", "5.304", "6.507", "4.259", "9.332", "5.046", "6.399", "4.962", "8.016", "6.818", "4.42", "6.829", "8.068", "6.711", "4.756", "4.922", "5.982", "8.098", "5.691", "1.977", "5.112", "6.854", "4.106", "10.33", "4.12", "3.81", "5.522", "6.509", "5.496", "7.304", "7.743", "6.58", "4.438", "6.423", "6.653", "8.577", "4.855", "6.448", "4.69", "8.674", "6.823", "6.855", "7.332", "6.666", "7.509", "4.249", "4.82", "8.664", "4.956", "6.521", "6.835", "4.946", "4.008", "5.533", "4.692", "6.52", "5.427", "4.823", "5.989", "7.561", "7.181", "5.421", "7.785", "7.795", "7.231", "7.962", "6.87", "3.882", "6.123", "3.207", "5.03", "3.879", "7.507", "7.679", "4.43", "4.197", "5.201", "9.095", "6.323", "7.724", "4.456", "4.852", "3.749", "5.705", "6.384", "5.645", "4.619", "3.023", "4.21", "3.941", "5.412", "5.295", "8.357", "7.991", "4.366", "6.647", "8.099", "4.893", "5.525", "8.597", "7.551", "4.375", "4.605", "5.25", "5.154", "7.495", "5.951", "4.464", "5.576", "2.838", "4.53", "7.122", "5.194", "3.055", "7.486", "7.177", "4.576", "5.55", "6.16", "4.093", "6.231", "4.976", "9.461", "4.993", "5.179", "2.261", "4.459", "6.393", "5.447", "4.552", "5.496", "5.917", "4.925", "4.005", "5.272", "6.99", "5.503", "5.789", "5.996", "5.034", "4.59", "5.141", "7.294", "3.082", "6.545", "6.131", "6.927", "6.17", "6.879", "4.585", "4.038", "4.447", "5.645", "6.137", "6.504", "6.598"
],
"Esophagus - Mucosa":[
"4.485", "5.027", "3.078", "2.82", "5.409", "4.837", "4.124", "4.841", "9.963", "8.373", "3.572", "3.008", "7.513", "4.566", "3.348", "3.969", "3.915", "4.242", "4.838", "4.569", "3.972", "4.367", "4.22", "3.531", "4.15", "4.502", "6.494", "3.745", "4.784", "4.325", "5.705", "5.292", "1.988", "3.876", "4.933", "10.34", "8.952", "4.878", "7.56", "4.505", "5.909", "5.837", "4.044", "3.315", "4.671", "6.298", "5.204", "4.726", "4.482", "4.445", "4.548", "8.408", "2.993", "6.667", "3.556", "4.064", "2.885", "5.97", "5.067", "7.216", "6.157", "4.692", "5.639", "6.438", "5.248", "9.185", "1.991", "3.235", "3.628", "4.171", "5.699", "4.314", "7.383", "5.791", "4.852", "7.18", "3.882", "4.054", "8.105", "6.174", "4.858", "8.069", "5.846", "3.435", "5.176", "4.337", "4.729", "6.11", "4.608", "8.072", "4.992", "5.282", "4.807", "9.779", "8.598", "6.189", "8.273", "4.945", "6.687", "6.316", "8.906", "6.196", "3.645", "4.339", "6.133", "5.841", "4.083", "6.026", "6.556", "7.72", "4.617", "5.778", "6.272", "3.544", "6.007", "2.282", "4.291", "3.339", "7.805", "4.93", "4.571", "6.342", "10.4", "6.557", "3.937", "4.107", "5.883", "3.493", "3.506", "4.64", "4.962", "4.969", "5.104", "5.388", "4.598", "2.546", "3.525", "5.085", "3.708", "4.502", "2.967", "5.023", "4.483", "7.397", "4.766", "4.525", "5.768", "6.305", "6.928", "5.247", "3.669", "2.353", "4.958", "4.857", "5.157", "5.048", "9.388", "5.162", "6.948", "3.608", "9.492", "5.009", "9.334", "4.267", "6.102", "5.111", "3.95", "3.318", "8.298", "5.461", "3.223", "7.621", "3.948", "5.461", "7.5", "4.562", "4.137", "7.496", "4.306", "5.41", "8.932", "2.694", "5.504", "6.29", "4.522", "7.19", "4.001", "7.178", "3.296", "4.371", "4.224", "4.172", "4.647", "5.638", "6.728", "7.649", "4.197", "5.821", "7.066", "5.195", "7.224", "4.98", "3.823", "6.099", "4.241", "4.04", "7.082", "3.003", "6.053", "3.594", "3.652", "8.034", "5.311", "2.872", "3.076", "4.378", "3.298", "2.85", "5.372", "7.295", "4.993", "10.19", "6.457", "3.637", "5.154", "8.027", "5.03", "7.032", "5.793", "2.632", "3.426", "5.891", "4.461", "7.182", "3.701", "6.73", "6.356", "5.969", "3.885", "2.228", "7.776", "4.535", "4.293", "3.528", "4.04", "3.583", "4.99", "3.893", "5.096", "4.842", "5.021", "6.889", "4.355", "4.379", "5.485", "5.415", "6.053", "5.306", "8.203", "6.571", "4.179", "3.644", "5.772", "4.605", "5.191", "5.635", "4.101", "8.164", "7.608", "3.948", "8.684", "6.523", "3.653", "4.717", "5.309", "5.546", "3.927", "3.794", "3.387", "4.074", "5.571", "3.661", "4.353", "4.331", "7.178", "6.141", "3.344", "6.482", "3.379", "3.815", "3.631", "3.986", "4.24", "5.711", "6.441", "6.765", "4.269", "5.25", "4.804", "4.877", "4.818", "4.143", "5.896", "5.43", "6.504", "5.285", "4.288", "4.271", "5.203", "7.049", "4.578", "5.615", "4.607", "5.226", "3.891", "6.147", "7.273", "4.603", "4.861", "4.099", "5.658", "4.362", "4.059", "3.826", "7.415", "4.545", "4.59", "3.886", "7.437", "4.284", "3.287", "3.464", "7.338", "6.643", "4.37", "5.226", "3.407", "3.959", "6.213", "7.478", "6.211", "3.423", "3.616", "5.263", "3.456", "5.573", "5.055", "4.903", "8.342", "4.205", "4.316", "4.702", "5.079", "6.039", "6.719", "5.958", "6.091", "3.225", "3.294", "4.357", "4.821", "4.153", "5.437", "5.184", "7.105", "3.862", "3.677", "4.506", "7.836", "5.167", "8.717", "5.066", "5.018", "4.058", "5.662", "4.549", "6.069", "3.107", "5.183", "12.34", "3.54", "3.608", "4.218", "4.822", "4.789", "5.294", "3.447", "7.325", "4.952", "3.73", "3.802", "5.734", "2.591", "7.581", "3.154", "3.332", "7.841", "4.404", "4.252", "8.056", "2.748", "6.597", "5.341", "7.41", "7.308", "3.75", "7.759"
],
"Esophagus - Muscularis":[
"5.255", "6.234", "6.389", "2.753", "3.882", "6.869", "5.173", "6.911", "6.17", "3.59", "4.128", "2.972", "4.707", "6.977", "4.825", "5.866", "4.895", "4.331", "4.072", "5.411", "5.907", "3.67", "4.176", "4.045", "4.422", "3.638", "6.549", "4.571", "4.702", "4.221", "2.694", "5.022", "4.436", "5.943", "6.942", "5.079", "6.248", "7.327", "5.606", "3.715", "6.632", "5.281", "6.604", "4.932", "5.244", "3.318", "4.443", "5.944", "5.93", "4.537", "8.038", "5.287", "4.075", "5.973", "5.334", "4.621", "5.375", "6.725", "4.028", "4.755", "5.223", "4.568", "5.47", "5.853", "4.485", "8.198", "7.106", "4.948", "4.787", "5.658", "6.241", "4.484", "6.274", "7.879", "5.146", "3.701", "5.045", "4.421", "5.072", "4.387", "7.373", "6.386", "6.587", "4.602", "5.12", "2.574", "6.803", "8", "3.618", "2.785", "4.298", "6.169", "6.728", "4.177", "4.6", "4.931", "6.756", "3.687", "7.06", "4.156", "4.282", "4.376", "5.703", "7.863", "11.58", "4.165", "7.685", "5.097", "8.092", "5.246", "5.233", "6.445", "6.376", "4.207", "10.07", "6.485", "7.454", "5.351", "4.18", "4.584", "3.996", "6.298", "5.569", "4.048", "4.957", "6.419", "3.981", "5.481", "4.592", "3.73", "3.884", "6.652", "3.507", "6.213", "8.171", "6.904", "9.031", "7.126", "4.976", "3.857", "4.673", "8.367", "6.013", "6.709", "4.405", "6.914", "4.858", "4.527", "7.261", "2.91", "6.011", "6.589", "7.273", "4.925", "9.91", "6.066", "6.891", "3.983", "4.938", "4.839", "4.756", "6.174", "8.254", "4.215", "5.186", "8.597", "5.477", "4.571", "3.9", "4.397", "8.797", "6.84", "6.065", "5.192", "3.945", "5.798", "6.298", "4.494", "8", "4.883", "8.998", "4.199", "6.327", "7.239", "7.729", "7.624", "6.105", "6.646", "5.28", "6.06", "4.957", "8.939", "4.478", "7.087", "4.778", "5.537", "6.281", "5.112", "6.276", "6.554", "7.579", "4.488", "5.62", "4.565", "5.537", "5.242", "8.14", "7.567", "6.737", "8.425", "5.131", "5.293", "5.823", "4.909", "5.229", "5.162", "5.662", "3.072", "4.887", "6.299", "4.594", "5.565", "8.116", "5.881", "3.355", "3.639", "7.913", "4.643", "6.746", "3.655", "7.588", "4.164", "4.505", "6.668", "7.518", "2.587", "5.297", "4.69", "4.291", "4.918", "7.579", "6.434", "6.174", "5.446", "6.667", "6.147", "6.798", "5.981", "6.539", "7.307", "6.208", "5.83", "4.629", "7.24", "5.676", "7.536", "6.001", "4.818", "6.648", "7.345", "4.444", "9.822", "4.028", "6.716", "5.656", "5.733", "3.569", "5.219", "4.872", "7.213", "5.068", "6.065", "6.085", "5.764", "4.977", "3.781", "4.524", "8.371", "4.703", "4.71", "6.039", "8.272", "5.402", "6.065", "4.887", "6.976", "4.182", "3.819", "4.725", "4.275", "6.719", "4.579", "5.654", "8.062", "6.797", "6.496", "6.594", "4.478", "4.168", "4.783", "4.912", "6.96", "6.454", "5.564", "6.871", "4.869", "4.524", "5.701", "6.634", "5.897", "4.419", "3.321", "4.129", "6.206", "6.488", "2.575", "6.686", "6.02", "4.326", "4.041", "4.783", "5.11", "5.706", "6.125", "6.626", "3.929", "2.651", "4.732", "5.163", "4.87", "4.892", "5.198", "5.06", "5.436", "4.175", "5.811", "3.548", "8.086", "4.823", "6.207", "6.471", "4.188", "4.335", "4.763", "5.95", "7.991", "7.062", "4.946", "5.289", "3.526", "4.403", "4.208", "5.906", "5.182", "4.937", "4.292", "5.674", "8.234", "4.476", "5.709", "3.003", "5.485", "5.307", "7.441", "3.613", "6.564", "5.642", "6.789", "4.532", "5.394"
]
},
"Fallopian Tube":{
"Fallopian Tube":[
"7.714", "10.44", "9.292", "7.101", "5.377", "7.702", "8.955"
]
},
"Heart":{
"Heart - Atrial Appendage":[
"4.289", "6.103", "3.592", "3.968", "4.386", "3.684", "0.7273", "5.123", "3.491", "3.507", "3.249", "1.653", "4.681", "5.444", "3.242", "2.676", "2.24", "2.765", "3.564", "3.816", "5.307", "1.998", "2.804", "3.207", "5.044", "2.354", "1.948", "2.246", "3.704", "3.815", "2.33", "3.12", "1.576", "5.339", "3.016", "1.419", "3.213", "5.011", "3.679", "4.656", "3.198", "0.8049", "2.542", "3.437", "4.342", "3.487", "3.14", "4.252", "3.973", "3.447", "2.715", "4.214", "3.807", "5.284", "3.783", "1.742", "2.436", "4.549", "3.598", "4.191", "3.222", "4.113", "3.418", "5.379", "1.779", "3.654", "3.152", "4.392", "2.451", "5.664", "2.48", "2.618", "3.031", "4.768", "2.689", "3.389", "4.892", "7.693", "3.5", "5.435", "2.236", "4.843", "2.69", "3.286", "5.308", "2.645", "3.481", "2.846", "1.67", "4.963", "4.374", "4.046", "2.655", "2.283", "3.176", "1.515", "1.071", "3.031", "2.779", "5.316", "5.74", "1.846", "2.891", "2.104", "3.199", "2.212", "6.351", "3.595", "2.525", "3.219", "2.852", "5.132", "3.498", "5.911", "3.355", "5.467", "1.86", "4.943", "5.147", "7.483", "4.353", "2.513", "3.977", "3.611", "3.306", "1.997", "1.981", "6.05", "6.792", "2.437", "5.972", "3.538", "4.77", "2.747", "4.328", "3.83", "1.426", "2.701", "3.988", "1.501", "4.294", "2.082", "2.877", "2.604", "4.658", "3.36", "5.834", "5.388", "4.069", "2.961", "5.396", "4.503", "4.27", "4.05", "5.203", "1.354", "3.864", "3.007", "5.798", "5.387", "4.698", "3.694", "2.82", "5.847", "4.619", "3.845", "5.846", "4.727", "1.979", "4.08", "7.145", "3.226", "4.99", "3.512", "3.167", "6.859", "7.828", "6.014", "1.911", "3.573", "5.769", "5.159", "1.373", "8.175", "1.826", "4.66", "3.807", "3.213", "3.128", "3.113", "5.051", "4.144", "3.09", "2.029", "3.901", "1.539", "3.729", "2.971", "4.043", "6.178", "3.654", "2.723", "2.747", "6.211", "3.175", "2.045", "5.319", "6.081", "3.042", "6.236", "4.979", "6.896", "2.337", "3.508", "4.086", "3.558", "4.515", "4.301", "4.704", "1.471", "6.509", "3.989", "6.24", "4.957", "2.994", "4.616", "2.462", "2.371", "6.296", "1.969", "2.709", "6.416", "4.656", "4.331", "4.187", "4.413", "4.33", "5.283", "2.571", "3.457", "2.845", "3.087", "5.617", "4.045", "2.375", "3.21", "3.804", "4.419", "3.32", "3.201", "1.865", "2.322", "3.235", "3.957", "5.839", "4.021", "3.772", "2.155", "1.857", "2.816", "5.919", "3.088", "4.101", "3.966", "7.668", "3.734", "6.295", "5.559", "5.005", "5.809", "2.868", "3.312", "4.298", "3.001", "4.524", "2.545", "5.271", "4.541", "1.424", "3.159", "2.464", "3.544", "6.765", "3.187", "2.137", "3.552", "4.952", "4.203", "6.23", "2.872", "3.879", "1.878", "3.38", "4.693", "2.504", "5.008", "4.89"
],
"Heart - Left Ventricle":[
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]
},
"Liver":{
"Liver":[
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]
},
"Lung":{
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]
},
"Salivary Gland":{
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]
},
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]
},
"Nerve":{
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]
},
"Ovary":{
"Ovary":[
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]
},
"Pancreas":{
"Pancreas":[
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]
},
"Pituitary":{
"Pituitary":[
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]
},
"Prostate":{
"Prostate":[
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]
},
"Small Intestine":{
"Small Intestine - Terminal Ileum":[
"4.986", "3.907", "4.808", "5.533", "8.736", "4.731", "5.775", "4.777", "4.834", "4.778", "7.495", "8.116", "5.969", "7.31", "8.115", "5.229", "4.293", "4.361", "6.494", "4.82", "5.191", "6.257", "4.18", "4.605", "5.316", "6.802", "4.747", "7.62", "4.483", "4.695", "6.405", "3.689", "7.501", "7.773", "7.119", "5.074", "5.011", "6.911", "4.705", "5.874", "4.411", "5.012", "5.56", "7.539", "11.51", "13.53", "8.227", "8.53", "4.067", "5.986", "5.142", "4.52", "5.793", "4.321", "4.898", "3.245", "5.254", "4.018", "5.93", "4.665", "7.585", "5.065", "5.151", "6.036", "9.66", "6.293", "7.484", "7.739", "5.964", "9.8", "5.248", "11.52", "5.055", "6.77", "6.995", "5.638", "6.771", "4.842", "7.145", "6.982", "4.328", "7.487", "7.907", "3.221", "7.189", "3.94", "5.746", "6.521", "4.47", "4.523", "5.538", "4.024", "6.916", "6.849", "4.479", "6.788", "2.835", "5.441", "5.002", "4.994", "5.257", "3.2", "3.65", "5.341", "7.335", "5.168", "2.931", "5.033", "7.914", "4.153", "5.483", "4.047", "4.167", "3.952", "5.234", "2.941", "7.267", "11.29", "6.391", "5.848", "7.421", "8.139", "5.312", "6.553", "4.869", "3.897", "5.705", "5.292", "7.049", "5.024", "4.364", "5.481", "4.767", "5.125", "7.338", "4.019", "4.975"
]
},
"Spleen":{
"Spleen":[
"6.97", "9.313", "6.298", "5.113", "7.426", "5.464", "5.144", "5.46", "7.621", "6.714", "6.551", "6.582", "8.495", "4.402", "11.94", "6.54", "4.404", "3.498", "4.166", "4.879", "6.556", "6.735", "5.868", "5.181", "5.17", "8.744", "5.437", "5.901", "5.615", "6.652", "3.572", "6.134", "6.705", "6.506", "4.711", "6.074", "4.925", "6.348", "4.696", "4.21", "5.683", "5.539", "9.619", "6.184", "8.525", "7.55", "5.526", "6.453", "4.439", "6.68", "4.422", "4.548", "5.782", "6.439", "4.445", "7.846", "10.96", "4.331", "11.16", "7.163", "4.695", "6.106", "4.417", "4.093", "5.369", "7.135", "7.061", "5.965", "6.625", "6.293", "3.181", "11.25", "5.754", "6.733", "5.614", "4.596", "3.934", "6.034", "9.108", "6.875", "5.861", "5.281", "5.977", "5.742", "6.255", "5.922", "12", "7.713", "3.854", "8.762", "5.941", "4.565", "5.599", "5.742", "4.769", "5.53", "6.053", "5.055", "5.637", "3.336", "5.682", "3.686", "5.966", "5.025", "3.679", "5.2", "4.045", "4.104", "6.758", "4.921", "5.453", "5.05", "5.498", "4.389", "4.905", "4.73", "5.693", "5.387", "4.995", "6.862", "4.881", "7.892", "4.811", "4.867", "8.237", "8.093", "5.605", "5.489", "7.717", "4.411", "4.786", "4.391", "6.533", "7.096", "7.335", "4.269", "8.558", "5.069", "2.73", "6.644", "5.869", "4.961", "6.395", "6.553", "6.465", "5.121", "8.12", "6.466", "4.719", "4.765", "7.56", "4.925", "5.159", "5.303", "6.611", "5.375", "8.2", "5.051", "4.118", "4.853", "5.316", "4.947"
]
},
"Stomach":{
"Stomach":[
"7.017", "8.042", "5.96", "5.092", "5.005", "4.809", "5.341", "7.355", "1.994", "4.504", "12.22", "3.834", "2.272", "7.437", "5.35", "10.73", "5.068", "7.574", "4.455", "5.611", "5.08", "5.849", "3.871", "7.221", "3.294", "6.813", "5.205", "5.991", "6.074", "7.331", "5.266", "10.94", "6.864", "5.728", "5.912", "8.102", "4.691", "5.398", "8.181", "5.243", "5.423", "5.615", "5.069", "4.726", "7.037", "5.025", "7.299", "8.631", "5.436", "5.929", "6.024", "3.732", "3.184", "7.367", "5.248", "7.496", "6.185", "3.21", "7.473", "6.001", "2.996", "3.421", "6.31", "6.092", "6.315", "6.82", "4.183", "7.139", "6.51", "5.481", "6.298", "6.24", "7.149", "5.714", "6.969", "10.16", "8.091", "5.036", "5.574", "5.439", "6.214", "7.1", "5.446", "4.132", "4.161", "4.259", "6.174", "7.228", "5.986", "3.48", "3.575", "6.278", "4.648", "3.223", "7.122", "3.745", "6.454", "6.086", "6.503", "7.881", "4.157", "8.977", "4.549", "4.644", "3.6", "5.393", "7.663", "3.108", "7.048", "6.53", "7.529", "6.529", "3.765", "7.378", "5.473", "6.845", "5.362", "8.066", "2.41", "3.5", "5.689", "8.6", "5.176", "5.977", "7.334", "7.732", "7.165", "4.362", "10.06", "6.519", "6.622", "5.301", "3.975", "5.765", "6.443", "6.304", "6.69", "7.086", "7.44", "7.424", "4.35", "6.339", "3.03", "6.589", "4.918", "5.529", "6.064", "6.679", "5.864", "5.031", "6.398", "6.419", "5.155", "5.594", "5.478", "5.157", "6.962", "5.669", "5.836", "7.242", "6.102", "4.316", "7.27", "6.39", "5.084", "4.758", "8.957", "3.508", "4.887", "4", "5.601", "6.991", "6.523", "7.249", "6.071", "5.066", "7.572", "5.128", "6.044", "5.036", "7.078", "4.94", "6.49", "6.051", "4.79", "7.492", "9.279", "6.45", "10.83", "5.86", "8.024", "7.591", "6.553", "5.008", "9.677", "4.306", "5.042", "4.705", "5.946", "4.757", "7.531", "5.126", "5.997", "5.21", "5.392", "7.789", "5.723", "5.919", "9.034", "5.782", "6.441", "5.235", "4.491", "8.08", "7.07", "6.441", "3.942", "8.157", "4.488", "7.319", "11.31", "4.991", "5.011", "7.207", "8.573", "3.917", "6.417", "5.85", "4.785", "5.274", "5.133", "4.871", "8.715", "4.357", "3.72", "7.491", "7.74", "7.438", "4.617", "6.984", "5.456", "7.8", "4.145", "6.225", "6.179", "5.483", "5.016", "7.175", "7.177", "4.867", "5.171", "5.545", "5.918", "4.636", "6.489", "5.352", "4.215", "4.487", "7.973", "2.743", "5.158", "6.283"
]
},
"Testis":{
"Testis":[
"4.085", "3.239", "2.57", "3.342", "3.38", "2.224", "6.414", "6.934", "3.599", "4.463", "3.461", "3.573", "4.384", "2.652", "3.586", "3.003", "2.66", "4.579", "3.533", "4.266", "5.914", "4.08", "6.32", "2.303", "2.349", "2.235", "3.714", "2.842", "7.349", "3.093", "3", "3.213", "3.21", "9.238", "3.213", "3.019", "2.391", "4.024", "3.687", "4.049", "7.081", "5.97", "3.219", "3.005", "3.954", "2.12", "2.801", "5.431", "3.248", "5.923", "4.524", "3.408", "4.499", "2.388", "4.304", "5.233", "3.89", "5.221", "3.22", "3.442", "6.17", "6.699", "7.005", "3.353", "3.589", "3.014", "4.554", "6.597", "6.882", "4.029", "4.825", "4.228", "5.835", "7.131", "4.624", "12.97", "4.869", "7.12", "2.363", "5.365", "4.473", "3.851", "2.834", "6.405", "4.714", "6.058", "5.258", "4.7", "4.216", "3.182", "4.369", "4.194", "4.707", "3.966", "5.493", "4.515", "5.314", "2.973", "6.62", "4.114", "4.451", "3.865", "4.481", "4.393", "7.362", "3.574", "2.796", "5.476", "3.711", "3.321", "2.058", "3.509", "3.295", "4.453", "4.988", "3.046", "4.854", "8.425", "4.259", "4.311", "4.436", "4.048", "4.085", "2.49", "9.701", "4.195", "3.334", "7.147", "5.681", "4.045", "7.643", "3.72", "4.255", "3.9", "3.171", "3.157", "3.012", "11.55", "2.192", "8.549", "7.858", "3.686", "4.712", "6.025", "3.72", "5.921", "2.935", "3.101", "3.743", "2.939", "2.411", "4.202", "9.572", "6.76", "4.157", "6.089", "4.975", "4.973", "2.987", "4.622", "4.275", "4.206", "7.012", "3.653", "3.855", "3.696", "2.589", "3.391", "5.212", "4.106", "4.084", "2.844", "5.869", "3.43", "4.935", "3.063", "2.654", "5.044", "4.487", "3.188", "3.876", "5.575", "4.627", "5.02", "6.604", "2.807", "4.241", "3.214", "4.795", "3.679", "4.423", "3.106", "4.632", "4.092", "3.292", "5.209", "4.068", "5.084", "3.306", "2.951", "3.85", "4.717", "3.493", "5.534", "5.363", "5.618", "3.939", "5", "4.66", "2.342", "3.025", "5.801", "4.188", "8.007", "3.295", "3.268", "3.866", "4.528", "2.824", "3.496", "3.603", "4.965", "4.318", "3.607", "4.394", "4.363", "3.855", "3.28", "2.601", "6.957", "3.735", "4.697", "4.09", "6.367", "3.352", "4.373", "4.961", "5.646", "5.973", "2.803", "3.839", "5.417", "3.61", "5.887", "4.063", "5.6", "3.84", "3.166", "3.765", "3.665", "3.311", "5.207", "5.008", "5.153", "4.059", "4.574", "4.292", "3.493", "4.186"
]
},
"Thyroid":{
"Thyroid":[
"8.878", "11.39", "8.836", "8.316", "6.614", "12.29", "6.237", "12.03", "11.51", "10.51", "12.88", "14.84", "6.581", "10.76", "12.43", "9.23", "13.71", "10.52", "7.66", "11.01", "12.22", "7.456", "10.08", "9.672", "7.413", "11.77", "11.43", "10.12", "9.834", "11.15", "15.09", "10.22", "13.43", "6.618", "9.811", "8.239", "7.757", "7.655", "10.76", "10.08", "6.134", "9.725", "12.97", "8.826", "10.03", "16.84", "9.186", "6.874", "8.584", "11.3", "14.73", "8.625", "8.292", "9.862", "7.491", "11.95", "14.41", "11.37", "9.11", "14.33", "15.38", "7.367", "11.82", "11.06", "10.91", "9.823", "9.319", "9.115", "13.05", "9.799", "13.69", "13.07", "5.645", "7.298", "13.08", "10.68", "8.162", "8.827", "11.52", "7.539", "16.08", "10.04", "8.15", "7.925", "10.31", "12.72", "10.83", "11.48", "9.247", "11.33", "9.586", "11.49", "14.18", "11.82", "15.01", "8.384", "9.153", "12.05", "11.73", "14.05", "10.91", "7.519", "7.787", "9.966", "8.843", "13.92", "10.99", "7.408", "10.34", "8.241", "6.958", "14.04", "11.12", "12.62", "11.28", "9.109", "11.66", "11.69", "10.65", "8.159", "8.236", "12.47", "12.08", "9.896", "8.415", "8.4", "14.06", "9.8", "12.59", "11.95", "9.388", "12.41", "13.51", "10.36", "6.596", "11.5", "7.367", "12.52", "7.824", "13.34", "13.51", "12.83", "10.64", "11.3", "12.06", "17.44", "13.65", "11.01", "11.93", "10.17", "10.66", "8.617", "12.16", "16.16", "14.23", "13.66", "10.39", "8.785", "10.7", "11.43", "10.85", "9.71", "12.59", "12.84", "11.22", "13.38", "10.92", "7.297", "8.712", "8.584", "11.69", "12.54", "8.777", "8.581", "4.892", "8.631", "12.27", "10.23", "9.943", "8.053", "7.182", "10.28", "11.27", "8.83", "8.438", "11.2", "12.5", "16.09", "9.605", "13.48", "8.196", "13.78", "10.67", "11.72", "11.92", "5.667", "12.03", "8.714", "18.97", "8.283", "10.56", "11.93", "12.13", "9.728", "9.763", "9.979", "9.288", "10.06", "9.595", "12.22", "9.625", "9.758", "9.888", "7.989", "10.87", "8.626", "9.321", "10.38", "9.843", "12.51", "14.58", "10.47", "9.031", "12.36", "10.7", "13.78", "14.21", "9.842", "16.12", "7.492", "9.823", "11.17", "12.82", "10.65", "13.26", "13.85", "8.757", "8.105", "10.73", "11.01", "8.938", "12.15", "8.713", "9.4", "13.74", "9.055", "13.6", "6.373", "12.98", "11.74", "12.7", "10.12", "12.64", "10.92", "7.003", "12.05", "10.25", "10.85", "7.634", "10.59", "11.39", "10.03", "5.577", "11.18", "15.11", "11.49", "12.72", "11.19", "7.937", "12.94", "12.01", "11.46", "8.488", "10.64", "8.172", "9.318", "10.95", "9.647", "7.285", "6.515", "17.98", "9.375", "14.06", "10.51", "8.003", "8.535", "10.93", "13.89", "10.18", "8.738", "6.953", "12.36", "15.4", "16.87", "9.467", "8.226", "12.15", "14.42", "8.359", "8.883", "12.27", "7.163", "8.647", "11.38", "10.95", "9.227", "11", "14.27", "11.13", "11.53", "15.1", "12.93", "9.418", "7.595", "14.06", "13.67", "11.38", "10.24", "10.42", "9.719", "11.92", "5.281", "9.214", "9.011", "6.806", "8.093", "9.582", "13.87", "10.56", "11.5", "15.67", "17.94", "11.16", "8.668", "12.73", "12.09", "12.94", "11.48", "10.64", "8.183", "8.818", "15.4", "8.577", "15.53", "11.37", "13.59", "14.68", "10.72", "15.66", "14.17", "15.46", "6.953", "12.95", "7.079", "10.56", "10.17", "12.14", "10.24", "10.44", "7.686", "10.9", "9.928", "9.85", "9.138", "9.235", "7.693", "12.88", "8.784", "12.34", "11.39", "12.39", "12.72", "9.903", "9.418", "11.01", "13.95", "10.28", "11.87", "11.06", "9.155", "8.986", "8.82", "10.36", "7.67", "7.251", "11.5", "12.03", "9.142", "11.35", "10.28", "6.871", "11", "10.16", "11.1", "12.01", "12.95", "7.922", "8.339", "11.77", "5.695", "7.488", "9.397", "10.24", "8.063", "10.67", "8.966", "7.539", "14.11", "8.037", "8.346", "14.67", "10.23", "10.42", "14.47", "14.91", "9.951", "9.71", "7.964", "8.146", "9.726", "12.21", "9.696", "10.52", "5.743", "10.27", "11.92", "9.956", "11.6", "13.14", "8.401", "8.023", "8.487", "11.58", "7.687", "9.426", "11.91", "10.44", "11.58", "9.774", "7.498", "9.387", "11.8", "13.61", "8.705", "9.82", "9.532"
]
},
"Uterus":{
"Uterus":[
"12.53", "14.52", "7.651", "7.29", "14.67", "11.63", "7.766", "15.12", "16.58", "8.714", "17.36", "12.58", "7.738", "13.37", "15.73", "9.5", "12.57", "9.412", "9.494", "7.111", "12.03", "9.216", "9.111", "9.589", "9.916", "9.623", "10.45", "9.719", "12.73", "14.1", "9.885", "9.127", "13.39", "8.091", "11.61", "15.86", "14.29", "9.382", "11.61", "16.58", "6.803", "8.44", "8.406", "9.379", "8.218", "6.092", "9.885", "8.064", "7.721", "7.598", "11.08", "9.553", "12.8", "7.937", "7.795", "7.373", "10.75", "9.238", "17.79", "13.52", "9.146", "13.84", "8.821", "5.404", "7.923", "10.83", "10.8", "6.696", "10.13", "6.852", "9.695", "8.837", "6.423", "6.968", "14.05", "9.805", "12.58", "9.067", "9.137", "6.926", "9.034", "11.04", "7.653", "7.03", "9.985", "6.933", "7.911", "11.22", "8.127", "6.329", "9.104", "9.247", "7.795", "10.57", "5.785", "6.76", "8.602", "8.011", "8.505", "8.139", "12.57", "14.75", "4.93", "11.07", "9.036", "8.722", "11.4", "7.678", "7.381", "9.054", "11.85"
]
},
"Vagina":{
"Vagina":[
"11.62", "7.96", "7.143", "8.682", "7.31", "10.08", "5.158", "10.1", "7.09", "4.911", "5.379", "9.036", "9.926", "13.49", "5.215", "16.02", "7.428", "6.564", "5.142", "13.39", "10.72", "8.166", "6.157", "6.011", "11.84", "12.25", "12.87", "12.72", "6.373", "10.26", "7.158", "15.96", "8.45", "8.145", "17.95", "6.402", "2.988", "3.76", "12.65", "5.082", "5.478", "9.027", "15.27", "6.17", "10.42", "6.252", "10.19", "13.38", "5.688", "9.947", "8.138", "11.3", "10.29", "10.71", "7.674", "7.584", "3.559", "6.736", "8.367", "12.86", "9.396", "8.745", "6.503", "9.51", "8.46", "9.667", "11.52", "6.742", "7.504", "6.868", "8.467", "5.294", "11.14", "6.667", "9.745", "10.44", "5.572", "9.112", "5.344", "6.194", "5.949", "8.824", "7.767", "7.713", "9.38", "11.05", "6.449", "10.44", "8.629", "7.021", "7.865", "11.15", "8.742", "5.926", "6.513", "8.675", "8.84", "6.109", "5.695", "17", "8.677", "12.69", "16.45", "6.506", "3.862", "6.294", "6.079", "8.871", "8.03", "4.434", "13.64", "10.75", "9.933", "11.84", "5.924"
]
}
}
}
/expression
Get predicted ortholog genes' AGR expression data by Entrez gene ID
get
get /expression/orthologs/gene/entrezId/:entrezId
HTTP status code 200
Body
Media type: application/json
Type: object
Example:
[
{
"score": 1,
"bestScore": false,
"taxonId2": 10090,
"entrezId1": 26235,
"confidence": "low",
"entrezId2": 30840,
"taxonId1": 9606,
"bestScoreRev": false,
"gene2": {
"entrezId": 30840,
"symbol": "Fbxl6",
"mgiId": "MGI:1354705",
"xref": {
"mgiId": "MGI:1354705",
"ensemblId": "ENSMUSG00000022559"
},
"agrExpressions": {
"entrezId": 30840,
"expressionSummary": {
"totalAnnotations": 0,
"groups": [
{
"terms": [
{
"id": "UBERON:0001013",
"numberOfAnnotations": 0,
"name": "adipose tissue"
},
{
"id": "UBERON:0000026",
"numberOfAnnotations": 0,
"name": "appendage"
},
{
"id": "UBERON:0005726",
"numberOfAnnotations": 0,
"name": "chemosensory system"
},
{
"id": "UBERON:0001009",
"numberOfAnnotations": 0,
"name": "circulatory system"
},
{
"id": "UBERON:0001007",
"numberOfAnnotations": 0,
"name": "digestive system"
},
{
"id": "UBERON:0000924",
"numberOfAnnotations": 0,
"name": "ectoderm"
},
{
"id": "UBERON:0000949",
"numberOfAnnotations": 0,
"name": "endocrine system"
},
{
"id": "UBERON:0000925",
"numberOfAnnotations": 0,
"name": "endoderm"
},
{
"id": "UBERON:0016887",
"numberOfAnnotations": 0,
"name": "entire extraembryonic component"
},
{
"id": "UBERON:0002330",
"numberOfAnnotations": 0,
"name": "exocrine system"
},
{
"id": "UBERON:0002193",
"numberOfAnnotations": 0,
"name": "hemolymphoid system"
},
{
"id": "UBERON:0002423",
"numberOfAnnotations": 0,
"name": "hepatobiliary system"
},
{
"id": "UBERON:6005023",
"numberOfAnnotations": 0,
"name": "imaginal precursor"
},
{
"id": "UBERON:0002416",
"numberOfAnnotations": 0,
"name": "integumental system"
},
{
"id": "UBERON:0007037",
"numberOfAnnotations": 0,
"name": "mechanosensory system"
},
{
"id": "UBERON:0003104",
"numberOfAnnotations": 0,
"name": "mesenchyme"
},
{
"id": "UBERON:0000926",
"numberOfAnnotations": 0,
"name": "mesoderm"
},
{
"id": "UBERON:0002204",
"numberOfAnnotations": 0,
"name": "musculoskeletal system"
},
{
"id": "UBERON:0001016",
"numberOfAnnotations": 0,
"name": "nervous system"
},
{
"id": "UBERON:0002539",
"numberOfAnnotations": 0,
"name": "pharyngeal arch"
},
{
"id": "UBERON:0001008",
"numberOfAnnotations": 0,
"name": "renal system"
},
{
"id": "UBERON:0000990",
"numberOfAnnotations": 0,
"name": "reproductive system"
},
{
"id": "UBERON:0001004",
"numberOfAnnotations": 0,
"name": "respiratory system"
},
{
"id": "UBERON:0001032",
"numberOfAnnotations": 0,
"name": "sensory system"
},
{
"id": "UBERON:0002105",
"numberOfAnnotations": 0,
"name": "vestibulo-auditory system"
},
{
"id": "UBERON:0002104",
"numberOfAnnotations": 0,
"name": "visual system"
},
{
"id": "UBERON:AnatomyOtherLocation",
"numberOfAnnotations": 0,
"name": "other"
}
],
"name": "Anatomy",
"totalAnnotations": 0
},
{
"terms": [
{
"id": "GO:0030054",
"numberOfAnnotations": 0,
"name": "cell junction"
},
{
"id": "GO:0042995",
"numberOfAnnotations": 0,
"name": "cell projection"
},
{
"id": "GO:0005694",
"numberOfAnnotations": 0,
"name": "chromosome"
},
{
"id": "GO:0031410",
"numberOfAnnotations": 0,
"name": "cytoplasmic vesicle"
},
{
"id": "GO:0005856",
"numberOfAnnotations": 0,
"name": "cytoskeleton"
},
{
"id": "GO:0005829",
"numberOfAnnotations": 0,
"name": "cytosol"
},
{
"id": "GO:0005783",
"numberOfAnnotations": 0,
"name": "endoplasmic reticulum"
},
{
"id": "GO:0005768",
"numberOfAnnotations": 0,
"name": "endosome"
},
{
"id": "GO:0005576",
"numberOfAnnotations": 0,
"name": "extracellular region"
},
{
"id": "GO:0005794",
"numberOfAnnotations": 0,
"name": "Golgi apparatus"
},
{
"id": "GO:0005739",
"numberOfAnnotations": 0,
"name": "mitochondrion"
},
{
"id": "GO:0005634",
"numberOfAnnotations": 0,
"name": "nucleus"
},
{
"id": "GO:0005886",
"numberOfAnnotations": 0,
"name": "plasma membrane"
},
{
"id": "GO:0032991",
"numberOfAnnotations": 0,
"name": "protein-containing complex"
},
{
"id": "GO:0045202",
"numberOfAnnotations": 0,
"name": "synapse"
},
{
"id": "GO:0005773",
"numberOfAnnotations": 0,
"name": "vacuole"
},
{
"id": "GO:otherLocations",
"numberOfAnnotations": 0,
"name": "other locations"
}
],
"name": "Cellular Component",
"totalAnnotations": 0
},
{
"terms": [
{
"id": "UBERON:0000068",
"numberOfAnnotations": 0,
"name": "embryo stage"
},
{
"id": "UBERON:PostEmbryonicPreAdult",
"numberOfAnnotations": 0,
"name": "post embryonic, pre-adult"
},
{
"id": "UBERON:0000113",
"numberOfAnnotations": 0,
"name": "post-juvenile adult stage"
}
],
"name": "Stage",
"totalAnnotations": 0
}
]
}
}
}
},
/pharos
Get predicted ortholog genes' AGR expression data by Entrez gene ID
get
get /pharos/targets/gene/entrezId/:entrezId
HTTP status code 200
Body
Media type: application/json
Type: object
Example:
[
{
"id": 1125,
"deprecated": false,
"description": "Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression. In cooperation with mitochondrial PPIF is involved in activating oxidative stress-induced necrosis; the function is largely independent of transcription. Induces the transcription of long intergenic non-coding RNA p21 (lincRNA-p21) and lincRNA-Mkln1. LincRNA-p21 participates in TP53-dependent transcriptional repression leading to apoptosis and seem to have to effect on cell-cycle regulation. Implicated in Notch signaling cross-over. Prevents CDK7 kinase activity when associated to CAK complex in response to DNA damage, thus stopping cell cycle progression. Isoform 2 enhances the transactivation activity of isoform 1 from some but not all TP53-inducible promoters. Isoform 4 suppresses transactivation activity and impairs growth suppression mediated by isoform 1. Isoform 7 inhibits isoform 1-mediated apoptosis. Regulates the circadian clock by repressing CLOCK-ARNTL/BMAL1-mediated transcriptional activation of PER2 (PubMed:24051492).",
"gene": "TP53",
"name": "Cellular tumor antigen p53",
"accession": "P04637",
"idgFamily": "Transcription Factor",
"idgTDL": "Tchem",
"drugs": [],
"ligands": [
{
"id": 8596,
"version": 1,
"created": 1554862655000,
"modified": 1554862656000,
"deprecated": false,
"name": "CHEMBL2059300",
"description": null,
"self": "https://pharos.nih.gov/idg/api/v1/ligands(8596)?view=full",
"kind": "ix.idg.models.Ligand",
"namespace": null,
"synonyms": [
{
"id": 413575,
"href": "https://www.ebi.ac.uk/chembl/compound/inspect/CHEMBL2059300",
"term": "CHEMBL2059300",
"label": "CHEMBL Synonym"
},
{
"id": 413580,
"href": "https://www.ebi.ac.uk/chembl/compound/inspect/CHEMBL2059300",
"term": "2-((3R,5R,6S)-1-((S)-1-(tert-Butoxy)-1-oxo-butan-2-yl)-5-(3-chlorophenyl)-6-(4-chlorophenyl)-3-methyl-2-oxopiperidin-3-yl)acetic Acid",
"label": "CHEMBL Synonym"
}
],
"properties": [
{
"id": 1,
"href": "https://druggablegenome.net",
"term": "TCRDv5.4.0",
"label": "Data Source"
},
{
"id": 2380,
"href": "https://www.ebi.ac.uk/chembl",
"term": "CHEMBL",
"label": "Data Source"
},
{
"id": 2403,
"href": null,
"term": "ChEMBL",
"label": "Ligand Activity Source"
},
{
"id": 413576,
"href": null,
"term": "SF4XW7N1H",
"label": "LyChI_L1"
},
{
"id": 413577,
"href": null,
"term": "HZ4GY1F585",
"label": "LyChI_L2"
},
{
"id": 413578,
"href": null,
"term": "H59DPRMP8J9",
"label": "LyChI_L3"
},
{
"id": 413579,
"href": null,
"term": "H59YXMBV1Q3K",
"label": "LyChI_L4"
},
{
"id": 413581,
"href": "https://www.ebi.ac.uk/chembl",
"term": "CHEMBL",
"label": "Ligand Source"
},
{
"id": 413582,
"text": "CC[C@H](N1[C@@H]([C@H](C[C@](C)(CC(=O)O)C1=O)c2cccc(Cl)c2)c3ccc(Cl)cc3)C(=O)OC(C)(C)C",
"label": "CHEMBL Canonical SMILES"
},
{
"id": 413586,
"intval": 22524527,
"label": "PubMed ID"
},
{
"id": 3190860,
"intval": 22524527,
"label": "PubMed ID"
}
],
"links": [
{
"id": 964845,
"kind": "ix.core.models.Structure",
"href": "https://pharos.nih.gov/idg/api/v1/structures(967932df-8c7d-40d3-8747-2a2df9222b6c)",
"refid": "967932df-8c7d-40d3-8747-2a2df9222b6c",
"created": 1554862655000,
"namespace": null,
"version": 1,
"deprecated": false,
"properties": [],
"modified": 1554862655000
},
{
"id": 964846,
"kind": "ix.idg.models.Target",
"href": "https://pharos.nih.gov/idg/api/v1/targets(1125)",
"refid": "1125",
"created": 1554862656000,
"namespace": null,
"version": 1,
"deprecated": false,
"properties": [
{
"id": 293,
"href": null,
"term": "Transcription Factor",
"label": "IDG Target Family"
},
{
"id": 2347,
"href": null,
"term": "Tchem",
"label": "IDG Development Level"
},
{
"id": 2403,
"href": null,
"term": "ChEMBL",
"label": "Ligand Activity Source"
},
{
"id": 2405,
"href": null,
"term": "IC50",
"label": "Ligand Activity"
},
{
"id": 413583,
"unit": null,
"numval": 6,
"label": "IC50"
},
{
"id": 413584,
"href": "http://www.genenames.org/cgi-bin/gene_symbol_report?match=TP53",
"term": "TP53",
"label": "IDG Target"
}
],
"modified": 1554862656000
},
{
"id": 6810230,
"kind": "ix.idg.models.Target",
"href": "https://pharos.nih.gov/idg/api/v1/targets(7699)",
"refid": "7699",
"created": 1554910877000,
"namespace": null,
"version": 1,
"deprecated": false,
"properties": [
{
"id": 2347,
"href": null,
"term": "Tchem",
"label": "IDG Development Level"
},
{
"id": 2403,
"href": null,
"term": "ChEMBL",
"label": "Ligand Activity Source"
},
{
"id": 4588,
"href": null,
"term": "Enzyme",
"label": "IDG Target Family"
},
{
"id": 19918,
"href": null,
"term": "Kd",
"label": "Ligand Activity"
},
{
"id": 3180745,
"href": "http://www.genenames.org/cgi-bin/gene_symbol_report?match=MDM2",
"term": "MDM2",
"label": "IDG Target"
},
{
"id": 3190859,
"unit": null,
"numval": 9,
"label": "Kd"
}
],
"modified": 1554910877000
}
],
"publications": [],
"structureRefId": "967932df-8c7d-40d3-8747-2a2df9222b6c",
"targetProperties": [
{
"id": 413583,
"unit": null,
"numval": 6,
"label": "IC50"
}
],
"idgTargetFamily": "Transcription Factor",
"idgDevLevel": "Tchem",
"idgTarget": "TP53",
"targetCount": 2
}
}
]
/mutalyzer
Get genomic location of the variant in HGVS format
get
get /mutalyzer/hgvs/:variantHGVS
HTTP status code 200
Body
Media type: application/json
Type: object
Example:
{
"chr":"6",
"pos":"99365567",
"ref":"T",
"alt":"C",
"gene":{
"alias":[
"FBL4",
"FBL5",
"MTDPS13"
],
"pharosTargetIds":[
1520
],
"chr":"6",
"type":"protein-coding",
"name":"F-box and leucine rich repeat protein 4",
"lastModified":"20191012",
"status":"O",
"hg19Start":99316420,
"description":"F-box and leucine rich repeat protein 4",
"taxonId":9606,
"entrezId":26235,
"location":"6q16.1-q16.2",
"hg19Stop":99395849,
"xref":{
"omimId":605654,
"hgncId":13601,
"ensemblId":"ENSG00000112234"
},
"symbol":"FBXL4",
"hgncId":13601,
"grch38Start":98868535,
"grch39Stop":98948006,
"entrezSummary":"This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]"
}
}
/transvar
Get genomic location of the variant and gene by of protein variant
get
get /transvar/protein/:proteinVariant
HTTP status code 200
Body
Media type: application/json
Type: object
Example:
{"searchTerm":"IRF2BPL:p.Gln126*","candidates":[{"gene":{"alias":["C14orf4","EAP1","NEDAMSS"],"pharosTargetIds":[11602],"chr":"14","type":"protein-coding","name":"interferon regulatory factor 2 binding protein like","lastModified":"20191012","status":"O","hg19Start":77490888,"description":"interferon regulatory factor 2 binding protein like","taxonId":9606,"entrezId":64207,"location":"14q24.3","hg19Stop":77495034,"xref":{"omimId":611720,"hgncId":14282,"ensemblId":"ENSG00000119669"},"symbol":"IRF2BPL","hgncId":14282,"entrezSummary":"This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]"},"coord":"chr14:g.77493760G>A","type":"snv","transcripts":["ENST00000238647","NM_024496.3"],"transcript":["ENST00000238647","NM_024496.3"]}],"errors":null}