ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q21.1(chr2:131478004-131967138)x3
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 | |||
ARHGEF4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
69 | 127 | |
GPR148 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
35 | 90 |
AMER3 | - | - | - |
GRCh38 GRCh37 |
86 | 144 |
FAM168B | - | - |
GRCh38 GRCh37 |
10 | 66 | |
PLEKHB2 | - | - |
GRCh38 GRCh37 |
15 | 74 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 26, 2017 | RCV000845616.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022