ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q21.1(chr2:131477947-131933576)x1
Germline
Classification
(1)
Likely pathogenic
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 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Mar 10, 2016 | RCV000512006.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024