ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.3(chr21:43756585-46240105)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 |
79 | 187 | |
AGPAT3 | - | - |
GRCh38 GRCh37 |
18 | 117 | |
AIRE | - | - |
GRCh38 GRCh37 |
1128 | 1265 | |
CBS | - | - |
GRCh38 GRCh37 |
1260 | 1352 | |
CFAP410 | - | - |
GRCh38 GRCh37 |
352 | 501 | |
CRYAA | - | - |
GRCh38 GRCh37 |
88 | 182 | |
CSTB | - | - |
GRCh38 GRCh37 |
112 | 276 | |
DNMT3L | - | - |
GRCh38 GRCh37 |
20 | 118 | |
GATD3 | - | - |
GRCh38 GRCh37 |
6 | 110 | |
HSF2BP | - | - |
GRCh38 GRCh37 |
23 | 131 |
There are 39 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) |
|
Jun 19, 2018 | RCV000849014.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022