ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)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 |
966 | 1042 | |
DSCAM | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
192 | 283 | |
DIP2A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
132 | 244 | |
LSS | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
267 | 388 | |
TRAPPC10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
80 | 191 | |
ABCG1 | - | - |
GRCh38 GRCh37 |
47 | 135 | |
ADARB1 | - | - |
GRCh38 GRCh37 |
52 | 166 | |
AGPAT3 | - | - |
GRCh38 GRCh37 |
18 | 120 | |
AIRE | - | - |
GRCh38 GRCh37 |
1132 | 1273 | |
B3GALT5 | - | - |
GRCh38 GRCh37 |
2 | 78 |
There are 93 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) |
|
Apr 19, 2015 | RCV000510684.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024