ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12p13.33(chr12:121255-3003320)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 |
2094 | 3059 | |
ADIPOR2 | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 74 | |
B4GALNT3 | - | - |
GRCh38 GRCh37 |
84 | 167 | |
CACNA1C-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 848 |
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 |
1181 | 1292 |
There are 115 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) |
|
Dec 22, 2010 | RCV000142595.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024