ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3
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 |
697 | 738 | |
SETBP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1456 | 1502 | |
SMAD4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2075 | 2117 | |
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 | 1897 | |
CELF4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
32 | 91 | |
KATNAL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
115 | 260 | |
SMAD2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
319 | 357 | |
ACAA2 | - | - |
GRCh38 GRCh37 |
26 | 67 | |
ANKRD29 | - | - | - |
GRCh38 GRCh37 |
24 | 62 |
There are 89 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 10, 2018 | RCV001006980.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023