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 |
1786 | 1828 | |
ANKEF1 | - | - | - |
GRCh38 GRCh37 |
- | 89 |
BANF2 | - | - | - |
GRCh38 GRCh37 |
2 | 24 |
BFSP1 | - | - |
GRCh38 GRCh37 |
176 | 197 | |
BTBD3 | - | - |
GRCh38 GRCh37 |
9 | 41 | |
CFAP61 | - | - | - |
GRCh38 GRCh37 |
89 | 120 |
CRNKL1 | - | - |
GRCh38 GRCh37 |
30 | 61 | |
DSTN | - | - |
GRCh38 GRCh37 |
3 | 24 | |
DTD1 | - | - |
GRCh38 GRCh37 |
12 | 38 | |
DZANK1 | - | - | - |
GRCh38 GRCh37 |
42 | 70 |
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 Apr 25, 2022