ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)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 |
908 | 959 | |
GRIN2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1510 | 1553 | |
GUCY2C | No evidence available | No evidence available |
GRCh38 GRCh37 |
328 | 750 | |
APOLD1 | - | - |
GRCh38 GRCh37 |
18 | 76 | |
ARHGDIB | - | - |
GRCh38 GRCh37 |
4 | 45 | |
ART4 | - | - |
GRCh38 GRCh37 |
17 | 55 | |
ATF7IP | - | - |
GRCh38 GRCh37 |
70 | 108 | |
BORCS5 | - | - |
GRCh38 GRCh38 GRCh37 |
14 | 61 | |
C12orf60 | - | - | - |
GRCh38 GRCh37 |
2 | 78 |
CREBL2 | - | - |
GRCh38 GRCh37 |
7 | 51 |
There are 132 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052780.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023