ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3
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 | |||
EP300 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1756 | 1907 | |
SHANK3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
840 | 1067 | |
SOX10 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 434 | |
TCF20 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
871 | 908 | |
TNRC6B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
362 | 389 | |
A4GALT | - | - |
GRCh38 GRCh37 |
94 | 139 | |
ACO2 | - | - |
GRCh38 GRCh37 |
504 | 778 | |
ACR | - | - |
GRCh38 GRCh38 GRCh37 |
33 | 200 | |
ADM2 | - | - |
GRCh38 GRCh37 |
18 | 172 | |
ADSL | - | - |
GRCh38 GRCh37 |
839 | 868 |
There are 996 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051684.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024