ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q27.2-27.3(chr3:185879162-187446035)x1
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 | |||
ADIPOQ | - | - |
GRCh38 GRCh37 |
- | 70 | |
AHSG | - | - |
GRCh38 GRCh37 |
54 | 95 | |
BCL6 | - | - |
GRCh38 GRCh37 |
4 | 80 | |
CRYGS | - | - |
GRCh38 GRCh37 |
49 | 92 | |
DGKG | - | - |
GRCh38 GRCh37 |
60 | 102 | |
DNAJB11 | - | - |
GRCh38 GRCh37 |
120 | 171 | |
EIF4A2 | - | - |
GRCh38 GRCh37 |
40 | 87 | |
FETUB | - | - |
GRCh38 GRCh37 |
14 | 75 | |
HRG | - | - |
GRCh38 GRCh37 |
82 | 137 | |
KNG1 | - | - |
GRCh38 GRCh37 |
72 | 114 |
There are 11 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) |
|
Jun 15, 2018 | RCV001005497.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022