ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)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 | |||
JAG1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1829 | 1872 | |
ANKEF1 | - | - | - |
GRCh38 GRCh37 |
- | 96 |
BANF2 | - | - | - |
GRCh38 GRCh37 |
2 | 25 |
BFSP1 | - | - |
GRCh38 GRCh37 |
183 | 204 | |
BTBD3 | - | - |
GRCh38 GRCh37 |
10 | 45 | |
CFAP61 | - | - |
GRCh38 GRCh37 |
103 | 136 | |
CRNKL1 | - | - |
GRCh38 GRCh37 |
32 | 63 | |
DSTN | - | - |
GRCh38 GRCh37 |
6 | 27 | |
DTD1 | - | - |
GRCh38 GRCh37 |
13 | 39 | |
DZANK1 | - | - |
GRCh38 GRCh37 |
46 | 75 |
There are 41 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) |
|
Aug 21, 2018 | RCV001007080.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024