ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3
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 |
966 | 1042 | |
VPS26C | No evidence available | No evidence available |
GRCh38 GRCh37 |
22 | 93 | |
DSCR9 | - | - | - | GRCh38 | - | 39 |
HLCS | - | - |
GRCh38 GRCh37 |
965 | 1059 | |
HLCS-AS1 | - | - | - | GRCh38 | - | 46 |
LOC108281168 | - | - | - | GRCh38 | - | 37 |
LOC111556145 | - | - | - | GRCh38 | - | 38 |
LOC121627922 | - | - | - | GRCh38 | - | 38 |
LOC121853029 | - | - | - | GRCh38 | - | 37 |
LOC125418072 | - | - | - | GRCh38 | - | 37 |
There are 26 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) |
|
Aug 12, 2011 | RCV000053072.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023