ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q21.1(chr2:131477947-132048781)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 |
62 | 120 | |
GPR148 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
32 | 87 |
AMER3 | - | - | - |
GRCh38 GRCh37 |
72 | 130 |
FAM168B | - | - |
GRCh38 GRCh37 |
7 | 63 | |
PLEKHB2 | - | - |
GRCh38 GRCh37 |
12 | 71 | |
POTEE | - | - |
GRCh38 GRCh37 |
4 | 51 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2015 | RCV000512248.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024