ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q11.2-21.3(chr21:15006457-28820583)
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 | |||
APP | No evidence available | Some evidence for dosage pathogenicity |
GRCh38 GRCh37 |
446 | 554 | |
ADAMTS1 | - | - |
GRCh38 GRCh37 |
71 | 145 | |
ADAMTS5 | - | - |
GRCh38 GRCh37 |
63 | 133 | |
ATP5PF | - | - |
GRCh38 GRCh37 |
8 | 75 | |
BTG3 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 92 | |
C21orf91 | - | - | - |
GRCh38 GRCh37 |
1 | 79 |
CHODL | - | - |
GRCh38 GRCh37 |
12 | 94 | |
CXADR | - | - |
GRCh38 GRCh37 |
26 | 119 | |
CYYR1 | - | - |
GRCh38 GRCh37 |
3 | 74 | |
GABPA | - | - |
GRCh38 GRCh37 |
18 | 86 |
There are 15 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002052722.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022