ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1
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 |
2083 | 3042 | |
ADIPOR2 | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 74 | |
AKAP3 | - | - |
GRCh38 GRCh37 |
37 | 125 | |
B4GALNT3 | - | - |
GRCh38 GRCh37 |
84 | 167 | |
CACNA2D4 | - | - |
GRCh38 GRCh38 GRCh37 |
1181 | 1292 | |
CCDC77 | - | - | - |
GRCh38 GRCh37 |
33 | 110 |
CCND2 | - | - |
GRCh38 GRCh37 |
96 | 187 | |
CRACR2A | - | - |
GRCh38 GRCh37 |
83 | 152 | |
DCP1B | - | - |
GRCh38 GRCh38 GRCh37 |
39 | 121 | |
DYRK4 | - | - |
GRCh38 GRCh37 |
26 | 88 |
There are 32 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) |
|
Oct 14, 2022 | RCV003483146.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024