ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)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 |
2070 | 3022 | |
CHD4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
504 | 553 | |
A2M | - | - |
GRCh38 GRCh37 |
- | 132 | |
A2ML1 | - | - |
GRCh38 GRCh37 |
1407 | 1611 | |
ACRBP | - | - |
GRCh38 GRCh37 |
26 | 74 | |
ACSM4 | - | - |
GRCh38 GRCh37 |
16 | 75 | |
ADIPOR2 | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 73 | |
AICDA | - | - |
GRCh38 GRCh37 |
243 | 283 | |
AKAP3 | - | - |
GRCh38 GRCh37 |
34 | 121 | |
ANO2 | - | - |
GRCh38 GRCh37 |
6 | 61 |
There are 158 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Apr 22, 2014 | RCV000510853.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024