ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)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 |
- | 351 | |
SETD5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
992 | 1058 | |
SLC6A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
656 | 934 | |
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
790 | 1944 | |
RAF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 1114 | |
TMEM43 | No evidence available | No evidence available |
GRCh38 GRCh37 |
876 | - | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | - | |
ARPC4-TTLL3 | - | - | - |
GRCh38 GRCh37 |
- | - |
ATG7 | - | - |
GRCh38 GRCh37 |
53 | 98 | |
ATP2B2 | - | - |
GRCh38 GRCh37 |
370 | 410 |
There are 299 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) |
|
Jul 18, 2014 | RCV000143766.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023