ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)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 |
877 | 1107 | |
ACR | - | - |
GRCh38 GRCh38 GRCh37 |
33 | 200 | |
ADM2 | - | - |
GRCh38 GRCh37 |
18 | 172 | |
ALG12 | - | - |
GRCh38 GRCh37 |
528 | 766 | |
ARSA | - | - |
GRCh38 GRCh37 |
1256 | 1424 | |
BRD1 | - | - |
GRCh38 GRCh37 |
84 | 225 | |
CHKB | - | - |
GRCh38 GRCh37 |
3 | 543 | |
CIMAP1B | - | - | - |
GRCh38 GRCh37 |
8 | 129 |
CPT1B | - | - |
GRCh38 GRCh37 |
- | 234 | |
CRELD2 | - | - |
GRCh38 GRCh37 |
44 | 195 |
There are 26 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) |
|
May 26, 2023 | RCV001007506.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024