ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)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 |
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 | |
RAF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1069 | 1123 | |
TMEM43 | No evidence available | No evidence available |
GRCh38 GRCh37 |
943 | 986 | |
ANKRD28 | - | - |
GRCh38 GRCh37 |
12 | 84 | |
ARL8B | - | - |
GRCh38 GRCh37 |
1 | 90 | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | 61 | |
ARPC4-TTLL3 | - | - | - |
GRCh38 GRCh37 |
- | 150 |
ATG7 | - | - |
GRCh38 GRCh37 |
66 | 121 |
There are 76 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 20, 2017 | RCV000682233.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023