ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)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 |
1513 | 1645 | |
SHANK3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
795 | 1020 | |
SOX10 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 417 | |
TCF20 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
840 | 874 | |
TNRC6B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
319 | 345 | |
SEC14L4 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
26 | 50 | |
A4GALT | - | - |
GRCh38 GRCh37 |
86 | 130 | |
ACO2 | - | - |
GRCh38 GRCh37 |
503 | 772 | |
ACR | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 194 | |
ADM2 | - | - |
GRCh38 GRCh37 |
17 | 171 |
There are 263 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) |
|
Jul 24, 2018 | RCV001007181.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023