ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q13.3-21.1(chr4:75353931-77183033)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
SCARB2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
484 | 513 | |
ART3 | - | - |
GRCh38 GRCh37 |
25 | 65 | |
BTC | - | - |
GRCh38 GRCh37 |
20 | 46 | |
CDKL2 | - | - |
GRCh38 GRCh37 |
26 | 52 | |
CXCL10 | - | - |
GRCh38 GRCh37 |
- | 33 | |
CXCL11 | - | - |
GRCh38 GRCh37 |
- | 32 | |
CXCL9 | - | - |
GRCh38 GRCh37 |
6 | 41 | |
FAM47E | - | - | - |
GRCh38 GRCh37 |
- | 52 |
FAM47E-STBD1 | - | - | - |
GRCh38 GRCh37 |
- | 79 |
G3BP2 | - | - | - |
GRCh38 GRCh37 |
9 | 34 |
There are 9 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 13, 2018 | RCV000682422.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022