ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 |
18542 | 18699 | |
NBEA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
446 | 520 | |
TEX26 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
17 | 57 |
RXFP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
75 | 122 | |
ALOX5AP | - | - |
GRCh38 GRCh37 |
7 | 52 | |
B3GLCT | - | - |
GRCh38 GRCh37 |
269 | 327 | |
CCDC169 | - | - | - |
GRCh38 GRCh37 |
- | 52 |
CCDC169-SOHLH2 | - | - | - |
GRCh38 GRCh37 |
- | 66 |
CCNA1 | - | - |
GRCh38 GRCh37 |
14 | 68 | |
DCLK1 | - | - |
GRCh38 GRCh37 |
9 | 62 |
There are 194 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) |
|
Nov 4, 2011 | RCV000137923.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023