ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ACO2 | - | - |
GRCh38 GRCh37 |
503 | 772 | |
CCDC134 | - | - |
GRCh38 GRCh37 |
21 | 51 | |
CENPM | - | - |
GRCh38 GRCh37 |
5 | 37 | |
CSDC2 | - | - |
GRCh38 GRCh37 |
10 | 36 | |
DESI1 | - | - |
GRCh38 GRCh37 |
4 | 30 | |
MEI1 | - | - |
GRCh38 GRCh37 |
113 | 148 | |
MIR33A | - | - |
GRCh38 GRCh37 |
- | 29 | |
PHF5A | - | - |
GRCh38 GRCh37 |
2 | 31 | |
PMM1 | - | - |
GRCh38 GRCh37 |
17 | 43 | |
POLR3H | - | - |
GRCh38 GRCh37 |
18 | 253 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 26, 2019 | RCV001258783.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022