ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
SCARB2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
484 | 513 | |
AREG | - | - |
GRCh38 GRCh37 |
6 | 33 | |
ART3 | - | - |
GRCh38 GRCh37 |
25 | 65 | |
BTC | - | - |
GRCh38 GRCh37 |
20 | 46 | |
CCDC158 | - | - | - |
GRCh38 GRCh37 |
76 | 102 |
CCNG2 | - | - |
GRCh38 GRCh37 |
17 | 40 | |
CCNI | - | - |
GRCh38 GRCh37 |
6 | 29 | |
CDKL2 | - | - |
GRCh38 GRCh37 |
26 | 52 | |
CNOT6L | - | - |
GRCh38 GRCh37 |
18 | 40 | |
CXCL10 | - | - |
GRCh38 GRCh37 |
- | 33 |
There are 29 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) |
|
- | RCV003986507.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024