ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)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 | |||
ASXL3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
694 | 735 | |
DSC2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1560 | 1695 | |
DSG2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1100 | 1895 | |
AQP4 | - | - |
GRCh38 GRCh37 |
27 | 66 | |
B4GALT6 | - | - |
GRCh38 GRCh37 |
13 | 56 | |
C18orf21 | - | - | - |
GRCh38 GRCh37 |
- | 44 |
CCDC178 | - | - | - |
GRCh38 GRCh37 |
57 | 101 |
CDH2 | - | - |
GRCh38 GRCh37 |
783 | 818 | |
CHST9 | - | - |
GRCh38 GRCh37 |
8 | 67 | |
DSC1 | - | - |
GRCh38 GRCh37 |
- | 90 |
There are 32 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) |
|
Mar 20, 2019 | RCV001006964.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023