ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)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 |
1805 | 1848 | |
CSNK2A1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
179 | 255 | |
ABHD12 | - | - |
GRCh38 GRCh37 |
378 | 567 | |
ACSS1 | - | - |
GRCh38 GRCh37 |
42 | 64 | |
ADAM33 | - | - |
GRCh38 GRCh37 |
63 | 109 | |
ADISSP | - | - |
GRCh38 GRCh37 |
1 | 37 | |
ADRA1D | - | - |
GRCh38 GRCh37 |
53 | 86 | |
ANGPT4 | - | - |
GRCh38 GRCh37 |
39 | 95 | |
ANKEF1 | - | - | - |
GRCh38 GRCh37 |
- | 96 |
AP5S1 | - | - |
GRCh38 GRCh37 |
24 | 68 |
There are 825 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) |
|
Apr 30, 2010 | RCV000133996.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024