ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3
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 | |||
JAG1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1750 | 1793 | |
CSNK2A1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
165 | 243 | |
ADAM33 | - | - |
GRCh38 GRCh37 |
46 | 93 | |
ADISSP | - | - |
GRCh38 GRCh37 |
- | 34 | |
ADRA1D | - | - |
GRCh38 GRCh37 |
34 | 68 | |
ANGPT4 | - | - |
GRCh38 GRCh37 |
29 | 89 | |
ANKEF1 | - | - | - |
GRCh38 GRCh37 |
- | 78 |
AP5S1 | - | - |
GRCh38 GRCh37 |
17 | 61 | |
ATRN | - | - |
GRCh38 GRCh37 |
265 | 349 | |
AVP | - | - |
GRCh38 GRCh37 |
73 | 117 |
There are 563 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) |
|
Sep 27, 2013 | RCV000143426.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023