ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3
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 |
2049 | 2989 | |
CHD4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
483 | 531 | |
ACRBP | - | - |
GRCh38 GRCh37 |
19 | 66 | |
ADIPOR2 | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 73 | |
AKAP3 | - | - |
GRCh38 GRCh37 |
27 | 107 | |
ANO2 | - | - |
GRCh38 GRCh37 |
6 | 61 | |
ATN1 | - | - |
GRCh38 GRCh37 |
144 | 231 | |
B4GALNT3 | - | - |
GRCh38 GRCh37 |
63 | 146 | |
C12orf4 | - | - |
GRCh38 GRCh37 |
18 | 76 | |
C12orf57 | - | - |
GRCh38 GRCh37 |
236 | 304 |
There are 340 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 30, 2010 | RCV000135350.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023