ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1
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 |
18773 | 18931 | |
NBEA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
472 | 549 | |
RB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3563 | 3720 | |
CBY2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
40 | 95 | |
TEX26 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
25 | 66 |
PCDH9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
55 | 141 | |
RXFP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
84 | 132 | |
AKAP11 | - | - |
GRCh38 GRCh37 |
103 | 161 | |
ALG11 | - | - |
GRCh38 GRCh37 |
74 | 267 | |
ALG5 | - | - |
GRCh38 GRCh37 |
26 | 79 |
There are 772 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 | RCV000051373.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024