ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q21.1(chr2:130743933-131340280)x3
Germline
Classification
(2)
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 | |
AMER3 | - | - | - |
GRCh38 GRCh37 |
71 | 129 |
ARHGEF4-AS1 | - | - | - | GRCh38 | - | 11 |
FAM168B | - | - |
GRCh38 GRCh37 |
7 | 63 | |
LOC108228198 | - | - | - | GRCh38 | - | 10 |
LOC129934776 | - | - | - | GRCh38 | - | 11 |
LOC129934777 | - | - | - | GRCh38 | - | 11 |
LOC129934778 | - | - | - | GRCh38 | - | 11 |
LOC129934779 | - | - | - | GRCh38 | - | 11 |
LOC129934780 | - | - | - | GRCh38 | - | 12 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (2) |
|
Aug 26, 2013 | RCV000133633.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024