ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
2060 | 3012 | |
CHD4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
500 | 548 | |
ACRBP | - | - |
GRCh38 GRCh37 |
26 | 73 | |
ACSM4 | - | - |
GRCh38 GRCh37 |
16 | 74 | |
ADIPOR2 | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 73 | |
AKAP3 | - | - |
GRCh38 GRCh37 |
34 | 121 | |
ANO2 | - | - |
GRCh38 GRCh37 |
6 | 61 | |
APOBEC1 | - | - |
GRCh38 GRCh37 |
11 | 58 | |
ATN1 | - | - |
GRCh38 GRCh37 |
164 | 252 | |
B4GALNT3 | - | - |
GRCh38 GRCh37 |
78 | 161 |
There are 94 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) |
|
Nov 1, 2018 | RCV000767819.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023