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 |
18747 | 18905 | |
NBEA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
472 | 549 | |
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 |
453 | 493 | |
GJB2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
557 | 620 | |
TEX26 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
25 | 66 |
GJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
192 | 273 | |
RXFP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
84 | 132 | |
ALG5 | - | - |
GRCh38 GRCh37 |
26 | 77 | |
ALOX5AP | - | - |
GRCh38 GRCh37 |
9 | 55 |
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 |
---|---|---|---|---|
See cases
|
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