ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1
Germline
Classification
(1)
Likely 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 | |
AKAP3 | - | - |
GRCh38 GRCh37 |
37 | 125 | |
CCND2 | - | - |
GRCh38 GRCh37 |
96 | 187 | |
CRACR2A | - | - |
GRCh38 GRCh37 |
83 | 152 | |
DYRK4 | - | - |
GRCh38 GRCh37 |
26 | 88 | |
FERRY3 | - | - |
GRCh38 GRCh37 |
17 | 51 | |
FGF23 | - | - |
GRCh38 GRCh37 |
200 | 263 | |
FGF6 | - | - |
GRCh38 GRCh37 |
16 | 79 | |
FKBP4 | - | - |
GRCh38 GRCh37 |
- | 94 | |
FOXM1 | - | - |
GRCh38 GRCh37 |
27 | 130 |
There are 15 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV003986988.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024