ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)
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 | |
ABCG1 | - | - |
GRCh38 GRCh37 |
47 | 134 | |
ADARB1 | - | - |
GRCh38 GRCh37 |
51 | 162 | |
AGPAT3 | - | - |
GRCh38 GRCh37 |
18 | 117 | |
AIRE | - | - |
GRCh38 GRCh37 |
1129 | 1266 | |
BACE2 | - | - |
GRCh38 GRCh37 |
28 | 112 | |
C21orf58 | - | - | - |
GRCh38 GRCh37 |
- | 115 |
C2CD2 | - | - |
GRCh38 GRCh37 |
38 | 118 |
There are 75 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) |
|
Mar 1, 2022 | RCV002052739.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023