ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.3(chr21:44310057-47503155)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 | |||
TRAPPC10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | - | |
ADARB1 | - | - |
GRCh38 GRCh37 |
- | - | |
AGPAT3 | - | - |
GRCh38 GRCh37 |
- | - | |
AIRE | - | - |
GRCh38 GRCh37 |
- | - | |
CBS | - | - |
GRCh38 GRCh37 |
1258 | - | |
CFAP410 | - | - |
GRCh38 GRCh37 |
- | 499 | |
COL18A1 | - | - |
GRCh38 GRCh38 GRCh37 |
1820 | 2986 | |
COL6A1 | - | - |
GRCh38 GRCh37 |
1768 | 1876 | |
CRYAA | - | - |
GRCh38 GRCh37 |
87 | 181 | |
CSTB | - | - |
GRCh38 GRCh37 |
112 | 276 |
There are 43 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) |
|
Jul 26, 2018 | RCV000847671.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023