ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3
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 | |||
CTNNA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2866 | 2925 | |
BRD8 | - | - |
GRCh38 GRCh37 |
51 | 72 | |
CDC23 | - | - |
GRCh38 GRCh37 |
17 | 37 | |
CDC25C | - | - |
GRCh38 GRCh37 |
31 | 50 | |
CTB-1I21.1 | - | - | - | GRCh38 | - | 6 |
CTNNA1-AS1 | - | - | - | GRCh38 | - | 10 |
CXCL14 | - | - |
GRCh38 GRCh37 |
6 | 24 | |
CXXC5 | - | - |
GRCh38 GRCh37 |
24 | 43 | |
CXXC5-AS1 | - | - | - | GRCh38 | - | 7 |
DCANP1 | - | - |
GRCh38 GRCh37 |
- | 41 |
There are 228 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
|
Pathogenic (1) |
|
Jul 10, 2013 | RCV000133750.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024