ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)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 | |||
SETD5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1023 | 1091 | |
SLC6A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
668 | 953 | |
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
829 | 1994 | |
CNTN4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
273 | 507 | |
RAF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1077 | 1132 | |
TBC1D5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
43 | 69 | |
TMEM43 | No evidence available | No evidence available |
GRCh38 GRCh37 |
950 | 994 | |
ANKRD28 | - | - |
GRCh38 GRCh37 |
14 | 94 | |
ARL8B | - | - |
GRCh38 GRCh37 |
1 | 91 | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | 65 |
There are 90 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) |
|
Oct 9, 2017 | RCV000682215.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023