ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)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 | |||
SETBP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1456 | 1502 | |
KATNAL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
115 | 260 | |
SMAD2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
319 | 357 | |
ARK2C | - | - | - |
GRCh38 GRCh37 |
11 | 52 |
ARK2N | - | - | - |
GRCh38 GRCh37 |
2 | 43 |
ATP5F1A | - | - |
GRCh38 GRCh37 |
175 | 247 | |
CTIF | - | - |
GRCh38 GRCh38 GRCh37 |
42 | 85 | |
DYM | - | - |
GRCh38 GRCh37 |
293 | 372 | |
DYM-AS1 | - | - | - | GRCh38 | - | 40 |
ELOA2 | - | - |
GRCh38 GRCh37 |
- | 141 |
There are 139 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 30, 2010 | RCV000142696.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024