ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20p12.2(chr20:9596286-10678665)x1
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 |
1785 | 1826 | |
ANKEF1 | - | - | - |
GRCh38 GRCh37 |
- | 89 |
MKKS | - | - |
GRCh38 GRCh37 |
527 | 581 | |
PAK5 | - | - |
GRCh38 GRCh37 |
45 | 80 | |
SLX4IP | - | - |
GRCh38 GRCh37 |
16 | 53 | |
SNAP25 | - | - |
GRCh38 GRCh37 |
216 | 250 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003986142.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024