ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)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 | |||
APP | No evidence available | Sufficient evidence for dosage pathogenicity |
GRCh38 GRCh37 |
461 | 572 | |
ADAMTS1 | - | - |
GRCh38 GRCh37 |
78 | 154 | |
ADAMTS5 | - | - |
GRCh38 GRCh37 |
70 | 142 | |
APP-DT | - | - | - | GRCh38 | - | 42 |
ASMER1 | - | - | - | GRCh38 | - | 41 |
ATP5PF | - | - |
GRCh38 GRCh37 |
9 | 77 | |
BTG3 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 96 | |
BTG3-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 43 |
C21orf91 | - | - | - |
GRCh38 GRCh37 |
1 | 80 |
C21orf91-OT1 | - | - | - | GRCh38 | - | 43 |
There are 206 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) |
|
Mar 18, 2014 | RCV000143749.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024