ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21q22.3(chr21:42129699-46671060)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 | |||
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 | |
AATBC | - | - | - | GRCh38 | - | 44 |
ABCG1 | - | - |
GRCh38 GRCh37 |
47 | 135 | |
ADARB1 | - | - |
GRCh38 GRCh37 |
52 | 164 | |
AGPAT3 | - | - |
GRCh38 GRCh37 |
18 | 118 | |
AIRE | - | - |
GRCh38 GRCh37 |
1129 | 1267 | |
BNAT1 | - | - | - |
GRCh38 GRCh38 |
- | 128 |
C21orf58 | - | - | - |
GRCh38 GRCh37 |
- | 116 |
There are 332 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) |
|
Jan 14, 2013 | RCV000143335.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024