ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)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 | |||
ASXL3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
709 | 750 | |
DSC2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1561 | 1697 | |
DSG2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1103 | 1904 | |
CELF4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
32 | 91 | |
B4GALT6 | - | - |
GRCh38 GRCh37 |
13 | 56 | |
C18orf21 | - | - | - |
GRCh38 GRCh37 |
- | 44 |
CCDC178 | - | - | - |
GRCh38 GRCh37 |
57 | 101 |
DSC1 | - | - |
GRCh38 GRCh37 |
- | 91 | |
DSC3 | - | - |
GRCh38 GRCh37 |
113 | 153 | |
DSG1 | - | - |
GRCh38 GRCh37 |
377 | 750 |
There are 27 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) |
|
Feb 13, 2023 | RCV003483335.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024