ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q13.33(chr22:50149563-50780522)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 |
799 | 1024 | |
ACR | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 194 | |
ADM2 | - | - |
GRCh38 GRCh37 |
17 | 171 | |
ARSA | - | - |
GRCh38 GRCh37 |
1132 | 1299 | |
CHKB | - | - |
GRCh38 GRCh37 |
3 | 541 | |
CHKB-CPT1B | - | - | - | GRCh38 | - | 517 |
CHKB-DT | - | - | - | GRCh38 | - | 74 |
CIMAP1B | - | - | - |
GRCh38 GRCh37 |
8 | 127 |
CPT1B | - | - |
GRCh38 GRCh37 |
- | 230 | |
DENND6B | - | - | - |
GRCh38 GRCh37 |
38 | 189 |
There are 116 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 30, 2011 | RCV000140089.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023