ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)
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 |
932 | 983 | |
ETV6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
285 | 390 | |
GRIN2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1517 | 1560 | |
SOX5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
237 | 287 | |
CACNA1C | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
2083 | 3042 | |
CHD4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
515 | 564 | |
GUCY2C | No evidence available | No evidence available |
GRCh38 GRCh37 |
328 | 753 | |
A2M | - | - |
GRCh38 GRCh37 |
- | 145 | |
A2ML1 | - | - |
GRCh38 GRCh37 |
1423 | 1628 | |
ABCC9 | - | - |
GRCh38 GRCh37 |
1732 | 1776 |
There are 227 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) |
|
Mar 1, 2022 | RCV002052955.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023