ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 |
452 | 473 | |
ADPRH | - | - |
GRCh38 GRCh37 |
12 | 35 | |
B4GALT4 | - | - |
GRCh38 GRCh37 |
8 | 30 | |
CD80 | - | - |
GRCh38 GRCh37 |
10 | 30 | |
CFAP91 | - | - |
GRCh38 GRCh37 |
66 | 89 | |
COX17 | - | - |
GRCh38 GRCh37 |
1 | 21 | |
FSTL1 | - | - |
GRCh38 GRCh37 |
4 | 45 | |
GPR156 | - | - |
GRCh38 GRCh37 |
55 | 75 | |
GSK3B | - | - |
GRCh38 GRCh37 |
27 | 47 | |
IGSF11 | - | - |
GRCh38 GRCh37 |
21 | 45 |
There are 12 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 23, 2022 | RCV002473909.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022