ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)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 | |||
BRPF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
328 | 388 | |
SETD5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1033 | 1101 | |
SLC6A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
670 | 957 | |
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
830 | 2000 | |
RAF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1083 | 1138 | |
TMEM43 | No evidence available | No evidence available |
GRCh38 GRCh37 |
950 | 994 | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | 66 | |
ARPC4-TTLL3 | - | - | - |
GRCh38 GRCh37 |
- | 161 |
ATG7 | - | - |
GRCh38 GRCh37 |
72 | 130 | |
ATP2B2 | - | - |
GRCh38 GRCh37 |
390 | 433 |
There are 299 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) |
|
Jul 18, 2014 | RCV000143766.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024