ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)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 | |
CACNA2D4 | - | - |
GRCh38 GRCh38 GRCh37 |
1181 | 1292 | |
CCDC77 | - | - | - |
GRCh38 GRCh37 |
33 | 110 |
CRACR2A | - | - |
GRCh38 GRCh37 |
83 | 152 | |
DCP1B | - | - |
GRCh38 GRCh38 GRCh37 |
39 | 122 | |
ERC1 | - | - |
GRCh38 GRCh38 GRCh37 |
80 | 170 | |
FBXL14 | - | - |
GRCh38 GRCh37 |
17 | 90 | |
FKBP4 | - | - |
GRCh38 GRCh37 |
- | 94 |
There are 19 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) |
|
Jan 5, 2018 | RCV000683471.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023