ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q27.1-28(chr3:184300169-188285627)
Germline
Classification
(1)
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 | |||
ADIPOQ | - | - |
GRCh38 GRCh37 |
- | 71 | |
AHSG | - | - |
GRCh38 GRCh37 |
54 | 95 | |
BCL6 | - | - |
GRCh38 GRCh37 |
4 | 80 | |
C3orf70 | - | - | - |
GRCh38 GRCh37 |
4 | 47 |
CRYGS | - | - |
GRCh38 GRCh37 |
52 | 95 | |
DGKG | - | - |
GRCh38 GRCh37 |
60 | 102 | |
DNAJB11 | - | - |
GRCh38 GRCh37 |
126 | 177 | |
EHHADH | - | - |
GRCh38 GRCh37 |
228 | 273 | |
EIF4A2 | - | - |
GRCh38 GRCh37 |
55 | 102 | |
EPHB3 | - | - |
GRCh38 GRCh37 |
47 | 89 |
There are 24 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) |
|
Jan 1, 2017 | RCV000626533.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 17, 2022