ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |
SLC6A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
656 | 934 | |
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 | |
RAF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1060 | 1114 | |
TBC1D5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
28 | 53 | |
TMEM43 | No evidence available | No evidence available |
GRCh38 GRCh37 |
937 | 980 | |
ANKRD28 | - | - |
GRCh38 GRCh37 |
6 | 61 |
There are 600 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 12, 2011 | RCV000051719.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023