ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)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 |
314 | 374 | |
SETD5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1013 | 1081 | |
SLC6A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
665 | 950 | |
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
823 | 1986 | |
ITPR1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1683 | 1885 | |
CHL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
182 | 329 | |
CNTN4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
267 | 500 | |
CNTN6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
228 | 376 | |
RAF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1074 | 1129 | |
ARL8B | - | - |
GRCh38 GRCh37 |
1 | 91 |
There are 323 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) |
|
Feb 10, 2012 | RCV000138143.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024