ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
BRCA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
18441 | 18600 | |
NBEA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
449 | 530 | |
POLR1D | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
72 | 119 | |
ATP8A2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
443 | 483 | |
GJB2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
556 | 619 | |
TEX26 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
17 | 59 |
GJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
192 | 272 | |
RXFP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
75 | 124 | |
ALG5 | - | - |
GRCh38 GRCh37 |
17 | 69 | |
ALOX5AP | - | - |
GRCh38 GRCh37 |
7 | 54 |
There are 558 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053721.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023