ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4
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 | |||
QRICH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
126 | 139 | |
SETD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1073 | 1106 | |
CRIPTO | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
47 | 51 | |
MYL3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
415 | 426 | |
ALS2CL | - | - |
GRCh38 GRCh37 |
64 | 72 | |
AMIGO3 | - | - |
GRCh38 GRCh37 |
- | 42 | |
AMT | - | - |
GRCh38 GRCh37 |
622 | 711 | |
APEH | - | - |
GRCh38 GRCh37 |
29 | 40 | |
ARIH2 | - | - |
GRCh38 GRCh37 |
13 | 24 | |
ARIH2OS | - | - | - |
GRCh38 GRCh37 |
- | 10 |
There are 371 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) |
|
Sep 23, 2013 | RCV000133650.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024