ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1
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 | |||
SHANK3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
777 | 1002 | |
ACR | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 185 | |
ADM2 | - | - |
GRCh38 GRCh37 |
11 | 165 | |
ALG12 | - | - |
GRCh38 GRCh37 |
518 | 730 | |
ARSA | - | - |
GRCh38 GRCh37 |
1132 | 1299 | |
BRD1 | - | - |
GRCh38 GRCh37 |
66 | 207 | |
CDPF1 | - | - | - |
GRCh38 GRCh37 |
5 | 90 |
CELSR1 | - | - |
GRCh38 GRCh37 |
401 | 536 | |
CERK | - | - |
GRCh38 GRCh37 |
38 | 140 | |
CHKB | - | - |
GRCh38 GRCh37 |
3 | 539 |
There are 307 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) |
|
Aug 12, 2011 | RCV000051098.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023