ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)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 |
793 | 1018 | |
ACR | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 194 | |
ADM2 | - | - |
GRCh38 GRCh37 |
17 | 171 | |
ALG12 | - | - |
GRCh38 GRCh37 |
524 | 754 | |
ARHGAP8 | - | - |
GRCh38 GRCh37 |
- | 161 | |
ARSA | - | - |
GRCh38 GRCh37 |
1131 | 1298 | |
ATXN10 | - | - |
GRCh38 GRCh37 |
36 | 123 | |
BRD1 | - | - |
GRCh38 GRCh37 |
76 | 217 | |
CDPF1 | - | - | - |
GRCh38 GRCh37 |
8 | 93 |
CELSR1 | - | - |
GRCh38 GRCh37 |
452 | 589 |
There are 61 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) |
|
Dec 3, 2021 | RCV002472623.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023