ClinVar Genomic variation as it relates to human health
NC_000022.11:g.47513236_50806138del
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 |
823 | 1050 | |
ACR | - | - |
GRCh38 GRCh38 GRCh37 |
33 | 200 | |
ADM2 | - | - |
GRCh38 GRCh37 |
18 | 172 | |
ALG12 | - | - |
GRCh38 GRCh37 |
526 | 764 | |
ARSA | - | - |
GRCh38 GRCh37 |
1251 | 1419 | |
BRD1 | - | - |
GRCh38 GRCh37 |
84 | 225 | |
CHKB | - | - |
GRCh38 GRCh37 |
3 | 542 | |
CHKB-CPT1B | - | - | - | GRCh38 | - | 521 |
CHKB-DT | - | - | - | GRCh38 | - | 74 |
CIMAP1B | - | - | - |
GRCh38 GRCh37 |
8 | 127 |
There are 218 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV001254357.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023