ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)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 | |||
DYRK1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
961 | 1035 | |
RUNX1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1236 | 1578 | |
SON | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1271 | 1354 | |
APP | No evidence available | Some evidence for dosage pathogenicity |
GRCh38 GRCh37 |
446 | 555 | |
ITSN1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
225 | 294 | |
DNAJC28 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh38 GRCh37 |
22 | 87 |
RCAN1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
8 | 84 | |
VPS26C | No evidence available | No evidence available |
GRCh38 GRCh37 |
22 | 91 | |
ADAMTS1 | - | - |
GRCh38 GRCh37 |
71 | 145 | |
ADAMTS5 | - | - |
GRCh38 GRCh37 |
63 | 133 |
There are 635 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 16, 2012 | RCV000138095.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024