ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)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 |
- | 1058 | |
CNTN4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
250 | - | |
CNTN6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
210 | 357 | |
ARL8B | - | - |
GRCh38 GRCh37 |
- | - | |
BHLHE40 | - | - |
GRCh38 GRCh37 |
12 | 99 | |
BHLHE40-AS1 | - | - | - | GRCh38 | - | 41 |
CAV3 | - | - |
GRCh38 GRCh37 |
100 | - | |
CHL1 | - | - |
GRCh38 GRCh37 |
160 | 299 | |
CHL1-AS1 | - | - | - | GRCh38 | - | 71 |
CHL1-AS2 | - | - | - | GRCh38 | - | 50 |
There are 176 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051476.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023