ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)
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 | |||
ABCC5 | - | - |
GRCh38 GRCh37 |
64 | 106 | |
ABCF3 | - | - |
GRCh38 GRCh37 |
37 | 83 | |
ADIPOQ | - | - |
GRCh38 GRCh37 |
- | 70 | |
AHSG | - | - |
GRCh38 GRCh37 |
54 | 95 | |
ALG3 | - | - |
GRCh38 GRCh37 |
201 | 250 | |
AP2M1 | - | - |
GRCh38 GRCh37 |
207 | 267 | |
BCL6 | - | - |
GRCh38 GRCh37 |
4 | 80 | |
C3orf70 | - | - | - |
GRCh38 GRCh37 |
4 | 47 |
CAMK2N2 | - | - |
GRCh38 GRCh37 |
- | 47 | |
CHRD | - | - |
GRCh38 GRCh37 |
85 | 128 |
There are 45 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV002280742.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 03, 2022