ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4
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 | |||
ARHGAP31 | No evidence available | No evidence available |
GRCh38 GRCh37 |
475 | 496 | |
ADPRH | - | - |
GRCh38 GRCh37 |
14 | 38 | |
ARHGAP31-AS1 | - | - | - | GRCh38 | - | 12 |
B4GALT4 | - | - |
GRCh38 GRCh37 |
8 | 32 | |
B4GALT4-AS1 | - | - | - | GRCh38 | - | 17 |
CD80 | - | - |
GRCh38 GRCh37 |
13 | 33 | |
CFAP91 | - | - |
GRCh38 GRCh37 |
74 | 97 | |
COX17 | - | - |
GRCh38 GRCh37 |
1 | 21 | |
FSTL1 | - | - |
GRCh38 GRCh37 |
2 | 49 | |
GPR156 | - | - |
GRCh38 GRCh37 |
63 | 83 |
There are 92 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) |
|
Sep 27, 2013 | RCV000135591.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024