ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
TCF20 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
850 | 887 | |
ACO2 | - | - |
GRCh38 GRCh37 |
503 | 775 | |
CCDC134 | - | - |
GRCh38 GRCh37 |
21 | 51 | |
CENPM | - | - |
GRCh38 GRCh37 |
5 | 37 | |
CHADL | - | - |
GRCh38 GRCh37 |
75 | 112 | |
CSDC2 | - | - |
GRCh38 GRCh37 |
10 | 36 | |
CYP2D6 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
243 | 334 | |
DESI1 | - | - |
GRCh38 GRCh37 |
4 | 30 | |
L3MBTL2 | - | - |
GRCh38 GRCh37 |
29 | 76 | |
L3MBTL2-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 39 |
There are 21 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV004442758.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024