ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q21.1(chr2:130743933-131451535)x1
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 | |
AMER3 | - | - | - |
GRCh38 GRCh37 |
86 | 144 |
ARHGEF4-AS1 | - | - | - | GRCh38 | - | 11 |
FAM168B | - | - |
GRCh38 GRCh37 |
10 | 66 | |
LINC01120 | - | - | - | GRCh38 | - | 11 |
LOC108228198 | - | - | - | GRCh38 | - | 10 |
LOC129934776 | - | - | - | GRCh38 | - | 11 |
LOC129934777 | - | - | - | GRCh38 | - | 11 |
LOC129934778 | - | - | - | GRCh38 | - | 11 |
LOC129934779 | - | - | - | GRCh38 | - | 11 |
There are 8 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Dec 22, 2010 | RCV000137148.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024