ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1
Germline
Classification
(1)
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 | |||
ARHGAP31 | No evidence available | No evidence available |
GRCh38 GRCh37 |
452 | 473 | |
ADPRH | - | - |
GRCh38 GRCh37 |
12 | 35 | |
ARHGAP31-AS1 | - | - | - | GRCh38 | - | 12 |
ATG3 | - | - |
GRCh38 GRCh37 |
8 | 38 | |
ATP6V1A | - | - |
GRCh38 GRCh37 |
283 | 314 | |
B4GALT4 | - | - |
GRCh38 GRCh37 |
8 | 30 | |
B4GALT4-AS1 | - | - | - | GRCh38 | - | 15 |
BOC | - | - |
GRCh38 GRCh37 |
78 | 107 | |
CCDC191 | - | - | - |
GRCh38 GRCh37 |
29 | 79 |
CCDC80 | - | - |
GRCh38 GRCh37 |
64 | 95 |
There are 182 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000142725.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024