ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.33(chr22:50791825-51181078)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 |
795 | 1020 | |
ACR | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 194 | |
ADM2 | - | - |
GRCh38 GRCh37 |
17 | 171 | |
ARSA | - | - |
GRCh38 GRCh37 |
1131 | 1298 | |
CHKB | - | - |
GRCh38 GRCh37 |
3 | 541 | |
CPT1B | - | - |
GRCh38 GRCh37 |
- | 230 | |
KLHDC7B | - | - | - |
GRCh38 GRCh37 |
28 | 201 |
LMF2 | - | - | - |
GRCh38 GRCh37 |
96 | 250 |
MAPK8IP2 | - | - |
GRCh38 GRCh37 |
27 | 182 | |
MIOX | - | - |
GRCh38 GRCh37 |
27 | 181 |
There are 7 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) |
|
Jan 15, 2020 | RCV001258791.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022