ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)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 | |||
MLH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 5586 | |
SCN5A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 3958 | |
SLC22A14 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
- | 42 | |
ACAA1 | - | - |
GRCh38 GRCh37 |
- | 41 | |
ACVR2B | - | - |
GRCh38 GRCh37 |
334 | - | |
ACVR2B-AS1 | - | - | - | GRCh38 | - | 16 |
APRG1 | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 21 | |
ARPP21 | - | - |
GRCh38 GRCh37 |
31 | 47 | |
ARPP21-AS1 | - | - | - | GRCh38 | - | 6 |
CCR8 | - | - |
GRCh38 GRCh37 |
14 | 22 |
There are 168 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) |
|
Dec 22, 2010 | RCV000134924.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023