ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)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 | |||
CACNA1C | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
2059 | 3011 | |
ADIPOR2 | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 73 | |
B4GALNT3 | - | - |
GRCh38 GRCh37 |
78 | 161 | |
CACNA1C-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 836 |
CACNA1C-AS2 | - | - | - |
GRCh38 GRCh38 |
- | 72 |
CACNA1C-AS4 | - | - | - |
GRCh38 GRCh38 |
- | 26 |
CACNA1C-IT1 | - | - | - |
GRCh38 GRCh38 |
- | 23 |
CACNA1C-IT2 | - | - | - |
GRCh38 GRCh38 |
- | 23 |
CACNA1C-IT3 | - | - | - |
GRCh38 GRCh38 |
- | 26 |
CACNA2D4 | - | - |
GRCh38 GRCh38 GRCh37 |
1173 | 1279 |
There are 134 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) |
|
Jan 9, 2013 | RCV000141250.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024