ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)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 | |||
DSCAM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
192 | 283 | |
ABCG1 | - | - |
GRCh38 GRCh37 |
47 | 135 | |
B3GALT5 | - | - |
GRCh38 GRCh37 |
2 | 78 | |
BACE2 | - | - |
GRCh38 GRCh37 |
28 | 113 | |
BRWD1 | - | - |
GRCh38 GRCh37 |
147 | 225 | |
C2CD2 | - | - |
GRCh38 GRCh37 |
38 | 119 | |
CBS | - | - |
GRCh38 GRCh37 |
1272 | 1367 | |
CRYAA | - | - |
GRCh38 GRCh37 |
88 | 185 | |
ERG | - | - |
GRCh38 GRCh37 |
23 | 98 | |
ETS2 | - | - |
GRCh38 GRCh37 |
23 | 104 |
There are 29 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) |
|
Jan 20, 2016 | RCV000239953.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022