ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | 243 | |
LSS | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
266 | 384 | |
TRAPPC10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
79 | 187 | |
ADARB1 | - | - |
GRCh38 GRCh37 |
51 | 162 | |
AGPAT3 | - | - |
GRCh38 GRCh37 |
18 | 117 | |
AIRE | - | - |
GRCh38 GRCh37 |
1128 | 1265 | |
C21orf58 | - | - | - |
GRCh38 GRCh37 |
- | 115 |
CFAP410 | - | - |
GRCh38 GRCh37 |
352 | 501 | |
COL18A1 | - | - |
GRCh38 GRCh38 GRCh37 |
1825 | 2997 | |
COL6A1 | - | - |
GRCh38 GRCh37 |
1771 | 1880 |
There are 50 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) |
|
- | RCV003986159.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024