ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1
Germline
Classification
(1)
Pathogenic
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 | |||
CDKN1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
904 | 955 | |
ETV6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
278 | 382 | |
GRIN2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1501 | 1544 | |
APOLD1 | - | - |
GRCh38 GRCh37 |
18 | 76 | |
BCL2L14 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 59 | |
BORCS5 | - | - |
GRCh38 GRCh38 GRCh37 |
14 | 61 | |
CREBL2 | - | - |
GRCh38 GRCh37 |
7 | 51 | |
DDX47 | - | - |
GRCh38 GRCh37 |
29 | 83 | |
DUSP16 | - | - |
GRCh38 GRCh38 GRCh37 |
40 | 84 | |
EMP1 | - | - |
GRCh38 GRCh37 |
13 | 58 |
There are 32 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) |
|
Jul 13, 2017 | RCV000683470.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023