ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)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 | |||
BRPF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
294 | 351 | |
SETD5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
992 | 1058 | |
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
802 | 1957 | |
CNTN4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
250 | 475 | |
CNTN6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
210 | 357 | |
ARL8B | - | - |
GRCh38 GRCh37 |
- | 89 | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | 59 | |
ARPC4-TTLL3 | - | - | - |
GRCh38 GRCh37 |
- | 95 |
BHLHE40 | - | - |
GRCh38 GRCh37 |
12 | 99 | |
BHLHE40-AS1 | - | - | - | GRCh38 | - | 41 |
There are 255 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) |
|
Jan 9, 2013 | RCV000143325.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023