ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)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 | |||
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 | |
GUCY2C | No evidence available | No evidence available |
GRCh38 GRCh37 |
328 | 753 | |
ABCC9 | - | - |
GRCh38 GRCh37 |
1732 | 1776 | |
AEBP2 | - | - |
GRCh38 GRCh37 |
23 | 72 | |
APOLD1 | - | - |
GRCh38 GRCh37 |
20 | 78 | |
ARHGDIB | - | - |
GRCh38 GRCh37 |
4 | 45 | |
ART4 | - | - |
GRCh38 GRCh37 |
20 | 58 |
There are 77 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) |
|
Aug 1, 2022 | RCV002292878.13 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024