ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)
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 | |
ETV6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
281 | 386 | |
GRIN2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1505 | 1548 | |
CACNA1C | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
2064 | 3016 | |
CHD4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
500 | 549 | |
GUCY2C | No evidence available | No evidence available |
GRCh38 GRCh37 |
327 | 749 | |
A2M | - | - |
GRCh38 GRCh37 |
- | 132 | |
A2ML1 | - | - |
GRCh38 GRCh37 |
1407 | 1611 | |
ACRBP | - | - |
GRCh38 GRCh37 |
26 | 74 | |
ACSM4 | - | - |
GRCh38 GRCh37 |
16 | 75 |
There are 185 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) |
|
Nov 1, 2018 | RCV000767817.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023