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 | |||
PTH1R | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
311 | 333 | |
QRICH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
147 | 162 | |
SETD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1115 | 1148 | |
CRIPTO | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
50 | 56 | |
MYL3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
418 | 429 | |
ALS2CL | - | - |
GRCh38 GRCh37 |
72 | 80 | |
AMIGO3 | - | - |
GRCh38 GRCh37 |
- | 49 | |
AMT | - | - |
GRCh38 GRCh37 |
628 | 719 | |
APEH | - | - |
GRCh38 GRCh37 |
31 | 42 | |
ARIH2 | - | - |
GRCh38 GRCh37 |
14 | 28 |
There are 371 more genes affected by this variant. See the full set of genes in Variation Viewer (NCBI36 , GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 23, 2013 | RCV000133650.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024