ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)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 | |
AKAP3 | - | - |
GRCh38 GRCh37 |
34 | 121 | |
ANO2 | - | - |
GRCh38 GRCh37 |
6 | 61 | |
B4GALNT3 | - | - |
GRCh38 GRCh37 |
78 | 161 | |
C12orf4 | - | - |
GRCh38 GRCh37 |
15 | 50 | |
CACNA2D4 | - | - |
GRCh38 GRCh38 GRCh37 |
1173 | 1279 | |
CCDC77 | - | - | - |
GRCh38 GRCh37 |
29 | 106 |
CCND2 | - | - |
GRCh38 GRCh37 |
93 | 182 | |
CRACR2A | - | - |
GRCh38 GRCh37 |
79 | 148 |
There are 35 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 14, 2017 | RCV000683476.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023