ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)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 | |||
DYRK1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
968 | 1044 | |
DSCAM | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
208 | 299 | |
ABCG1 | - | - |
GRCh38 GRCh37 |
51 | 139 | |
B3GALT5 | - | - |
GRCh38 GRCh37 |
2 | 78 | |
BACE2 | - | - |
GRCh38 GRCh37 |
32 | 117 | |
BRWD1 | - | - |
GRCh38 GRCh37 |
163 | 241 | |
C2CD2 | - | - |
GRCh38 GRCh37 |
43 | 124 | |
DSCR4 | - | - |
GRCh38 GRCh37 |
- | 71 | |
DSCR8 | - | - |
GRCh38 GRCh37 |
- | 71 | |
ERG | - | - |
GRCh38 GRCh37 |
27 | 102 |
There are 20 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000446516.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024