ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)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 |
305 | 362 | |
SETD5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1002 | 1068 | |
SLC6A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
658 | 938 | |
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
817 | 1975 | |
ITPR1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1678 | 1877 | |
CHL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
182 | 328 | |
CNTN4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
266 | 498 | |
CNTN6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
227 | 374 | |
ARL8B | - | - |
GRCh38 GRCh37 |
1 | 90 | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | 61 |
There are 52 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 22, 2014 | RCV000511155.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024