ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21q21.1-21.3(chr21:22270514-27695129)x1
Germline
Classification
(1)
Likely 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 |
444 | 552 | |
ADAMTS1 | - | - |
GRCh38 GRCh37 |
61 | 134 | |
ADAMTS5 | - | - |
GRCh38 GRCh37 |
48 | 116 | |
APP-DT | - | - | - | GRCh38 | - | 42 |
ATP5PF | - | - |
GRCh38 GRCh37 |
4 | 71 | |
CYYR1 | - | - |
GRCh38 GRCh37 |
2 | 72 | |
CYYR1-AS1 | - | - | GRCh38 | - | 42 | |
D21S2088E | - | - | - | GRCh38 | - | 40 |
GABPA | - | - |
GRCh38 GRCh37 |
14 | 82 | |
JAM2 | - | - |
GRCh38 GRCh37 |
42 | 109 |
There are 64 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 24, 2012 | RCV000138937.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023