ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)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 | |||
SETD5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1006 | 1074 | |
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
823 | 1986 | |
CNTN4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
267 | 500 | |
CNTN6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
228 | 376 | |
ARL8B | - | - |
GRCh38 GRCh37 |
1 | 91 | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | 64 | |
ARPC4-TTLL3 | - | - | - |
GRCh38 GRCh37 |
- | 153 |
ATP2B2 | - | - |
GRCh38 GRCh37 |
377 | 420 | |
BHLHE40 | - | - |
GRCh38 GRCh37 |
17 | 105 | |
BRK1 | - | - |
GRCh38 GRCh37 |
25 | 168 |
There are 42 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) |
|
Apr 11, 2022 | RCV002468435.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023