ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1
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 |
1023 | 1091 | |
CNTN4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
273 | 507 | |
CNTN6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
238 | 386 | |
ARL8B | - | - |
GRCh38 GRCh37 |
1 | 91 | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | 65 | |
ARPC4-TTLL3 | - | - | - |
GRCh38 GRCh37 |
- | 160 |
BHLHE40 | - | - |
GRCh38 GRCh37 |
21 | 110 | |
BRPF1 | - | - |
GRCh38 GRCh37 |
321 | 381 | |
CAMK1 | - | - |
GRCh38 GRCh37 |
- | 83 | |
CAV3 | - | - |
GRCh38 GRCh37 |
102 | 444 |
There are 25 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) |
|
Sep 14, 2021 | RCV002472571.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022