ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.13-22.2(chr21:38741104..40274106)
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 | |||
DYRK1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
969 | 1045 | |
DSCR4 | - | - |
GRCh38 GRCh37 |
- | 71 | |
DSCR8 | - | - |
GRCh38 GRCh37 |
- | 71 | |
ERG | - | - |
GRCh38 GRCh37 |
27 | 102 | |
ETS2 | - | - |
GRCh38 GRCh37 |
27 | 109 | |
KCNJ15 | - | - |
GRCh38 GRCh37 |
29 | 99 | |
KCNJ6 | - | - |
GRCh38 GRCh37 |
10 | 176 | |
LINC00114 | - | - |
GRCh38 GRCh37 |
1 | 74 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 15, 2014 | RCV000190475.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024