ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3
Germline
Classification
(1)
Likely 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 | |||
TCF20 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
862 | 899 | |
ACO2 | - | - |
GRCh38 GRCh37 |
504 | 777 | |
CCDC134 | - | - |
GRCh38 GRCh37 |
24 | 54 | |
CENPM | - | - |
GRCh38 GRCh37 |
6 | 38 | |
CSDC2 | - | - |
GRCh38 GRCh37 |
11 | 37 | |
CYP2D6 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
245 | 336 | |
DESI1 | - | - |
GRCh38 GRCh37 |
5 | 31 | |
MEI1 | - | - |
GRCh38 GRCh37 |
120 | 155 | |
MIR33A | - | - |
GRCh38 GRCh37 |
- | 29 | |
NAGA | - | - |
GRCh38 GRCh37 |
212 | 416 |
There are 13 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 6, 2017 | RCV000684486.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022