ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3
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 | |||
BRPF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
288 | 346 | |
SETD5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
989 | 1055 | |
SLC6A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
656 | 933 | |
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
790 | 1943 | |
CNTN4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
253 | 480 | |
CNTN6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
214 | 363 | |
RAF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1060 | 1117 | |
ARL8B | - | - |
GRCh38 GRCh37 |
- | 90 | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | 60 | |
ARPC4-TTLL3 | - | - | - |
GRCh38 GRCh37 |
- | 96 |
There are 398 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 2, 2012 | RCV000138946.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023