ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614)
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 | |||
APP | No evidence available | Some evidence for dosage pathogenicity |
GRCh38 GRCh37 |
446 | 554 | |
ADAMTS1 | - | - |
GRCh38 GRCh37 |
71 | 145 | |
ADAMTS5 | - | - |
GRCh38 GRCh37 |
63 | 133 | |
APP-DT | - | - | - | GRCh38 | - | 42 |
ASMER1 | - | - | - | GRCh38 | - | 41 |
ATP5PF | - | - |
GRCh38 GRCh37 |
8 | 75 | |
BAGE2 | - | - |
GRCh38 GRCh37 |
- | 38 | |
BTG3 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 92 | |
BTG3-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 43 |
C21orf91 | - | - | - |
GRCh38 GRCh37 |
1 | 79 |
There are 211 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 1, 2015 | RCV000225452.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023