ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3
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 | |||
CDKN1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
882 | 935 | |
ETV6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
278 | 385 | |
GRIN2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1496 | 1541 | |
SOX5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
225 | 278 | |
CACNA1C | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
2051 | 2992 | |
CHD4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
482 | 531 | |
GUCY2C | No evidence available | No evidence available |
GRCh38 GRCh37 |
319 | 743 | |
KRAS | No evidence available | No evidence available |
GRCh38 GRCh37 |
454 | 513 | |
A2M | - | - |
GRCh38 GRCh37 |
- | 117 | |
A2M-AS1 | - | - | - | GRCh38 | - | 11 |
There are 1001 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053662.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023