ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)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 |
2098 | 3063 | |
ADIPOR2 | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 74 | |
AKAP3 | - | - |
GRCh38 GRCh37 |
37 | 125 | |
ANO2 | - | - |
GRCh38 GRCh37 |
6 | 61 | |
B4GALNT3 | - | - |
GRCh38 GRCh37 |
84 | 167 | |
C12orf4 | - | - |
GRCh38 GRCh37 |
8 | 36 | |
CACNA2D4 | - | - |
GRCh38 GRCh38 GRCh37 |
1181 | 1292 | |
CCDC77 | - | - | - |
GRCh38 GRCh37 |
33 | 110 |
CCND2 | - | - |
GRCh38 GRCh37 |
97 | 188 | |
CRACR2A | - | - |
GRCh38 GRCh37 |
83 | 152 |
There are 34 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) |
|
Feb 24, 2018 | RCV000683475.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023