ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3
Germline
Classification
(1)
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 | |||
EP300 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1551 | 1685 | |
SHANK3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
824 | 1051 | |
TCF20 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
862 | 899 | |
TNRC6B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
351 | 378 | |
A4GALT | - | - |
GRCh38 GRCh37 |
90 | 135 | |
ACO2 | - | - |
GRCh38 GRCh37 |
504 | 777 | |
ACR | - | - |
GRCh38 GRCh38 GRCh37 |
33 | 200 | |
ADM2 | - | - |
GRCh38 GRCh37 |
18 | 172 | |
ADSL | - | - |
GRCh38 GRCh37 |
838 | 867 | |
ALG12 | - | - |
GRCh38 GRCh37 |
526 | 764 |
There are 118 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) |
|
Apr 12, 2019 | RCV001007502.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023