ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.33-13.32(chr12:2245848-3614555)x3
Germline
Classification
(1)
Uncertain significance
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 |
2086 | 3047 | |
FKBP4 | - | - |
GRCh38 GRCh37 |
- | 94 | |
FOXM1 | - | - |
GRCh38 GRCh37 |
27 | 130 | |
ITFG2 | - | - |
GRCh38 GRCh37 |
34 | 168 | |
NRIP2 | - | - | - |
GRCh38 GRCh37 |
- | 91 |
PRMT8 | - | - |
GRCh38 GRCh37 |
13 | 81 | |
RHNO1 | - | - |
GRCh38 GRCh37 |
2 | 66 | |
TEAD4 | - | - |
GRCh38 GRCh37 |
30 | 96 | |
TSPAN9 | - | - |
GRCh38 GRCh37 |
20 | 89 | |
TULP3 | - | - |
GRCh38 GRCh37 |
46 | 110 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jun 23, 2014 | RCV000511901.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024