ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)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 |
963 | 1038 | |
RUNX1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1241 | 1585 | |
DSCAM | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
192 | 283 | |
DIP2A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
132 | 244 | |
LSS | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
266 | 385 | |
TRAPPC10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
80 | 189 | |
VPS26C | No evidence available | No evidence available |
GRCh38 GRCh37 |
22 | 92 | |
AATBC | - | - | - | GRCh38 | - | 44 |
ABCG1 | - | - |
GRCh38 GRCh37 |
47 | 135 | |
ADARB1 | - | - |
GRCh38 GRCh37 |
52 | 164 |
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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Oct 14, 2010 | RCV000136828.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024