ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3
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 | |||
JAG1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1757 | 1798 | |
CSNK2A1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
165 | 241 | |
ABHD12 | - | - |
GRCh38 GRCh37 |
375 | 555 | |
ACSS1 | - | - |
GRCh38 GRCh37 |
22 | 44 | |
ADAM33 | - | - |
GRCh38 GRCh37 |
45 | 89 | |
ADISSP | - | - |
GRCh38 GRCh37 |
- | 32 | |
ADRA1D | - | - |
GRCh38 GRCh37 |
34 | 66 | |
ANGPT4 | - | - |
GRCh38 GRCh37 |
28 | 84 | |
ANKEF1 | - | - | - |
GRCh38 GRCh37 |
- | 77 |
AP5S1 | - | - |
GRCh38 GRCh37 |
17 | 59 |
There are 806 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051227.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024