ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q13.33(chr22:50694375-50780581)x1
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 | |||
SHANK3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
823 | 1050 | |
ACR | - | - |
GRCh38 GRCh38 GRCh37 |
33 | 200 | |
LOC105373100 | - | - | - |
GRCh38 GRCh38 |
- | 74 |
LOC126863188 | - | - | - |
GRCh38 GRCh38 |
- | 121 |
LOC130067888 | - | - | - |
GRCh38 GRCh38 |
- | 76 |
RABL2B | - | - |
GRCh38 GRCh37 |
21 | 59 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Feb 14, 2012 | RCV000138162.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024