ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1
Germline
Classification
(1)
Pathogenic
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 | |||
CACNA1C | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
2059 | 3011 | |
AKAP3 | - | - |
GRCh38 GRCh37 |
34 | 121 | |
CACNA1C-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 836 |
CACNA1C-AS2 | - | - | - |
GRCh38 GRCh38 |
- | 72 |
CCND2 | - | - |
GRCh38 GRCh37 |
93 | 182 | |
CCND2-AS1 | - | - | - | GRCh38 | - | 45 |
CRACR2A | - | - |
GRCh38 GRCh37 |
79 | 148 | |
DYRK4 | - | - |
GRCh38 GRCh37 |
25 | 86 | |
FERRY3 | - | - |
GRCh38 GRCh37 |
14 | 43 | |
FGF23 | - | - |
GRCh38 GRCh37 |
196 | 259 |
There are 83 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) |
|
Aug 12, 2011 | RCV000052777.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024