ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1
Germline
Classification
(2)
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 | |||
QRICH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
152 | 167 | |
SETD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1140 | 1173 | |
CRIPTO | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
50 | 56 | |
MYL3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
419 | 430 | |
ALS2CL | - | - |
GRCh38 GRCh37 |
72 | 80 | |
ARIH2 | - | - |
GRCh38 GRCh37 |
14 | 28 | |
ARIH2OS | - | - | - |
GRCh38 GRCh37 |
- | 13 |
ATRIP | - | - |
GRCh38 GRCh37 |
1 | 785 | |
CAMP | - | - |
GRCh38 GRCh37 |
4 | 16 | |
CCDC12 | - | - | - |
GRCh38 GRCh37 |
11 | 31 |
There are 63 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) |
|
Feb 2, 2022 | RCV002279744.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024