ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)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 | |||
SETBP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1455 | 1501 | |
SMAD4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2075 | 2117 | |
TCF4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
959 | 1184 | |
KATNAL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
114 | 259 | |
SMAD2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
319 | 357 | |
ACAA2 | - | - |
GRCh38 GRCh37 |
26 | 67 | |
ALPK2 | - | - |
GRCh38 GRCh37 |
1795 | 2778 | |
ARK2C | - | - | - |
GRCh38 GRCh37 |
5 | 46 |
ARK2N | - | - | - |
GRCh38 GRCh37 |
2 | 43 |
ATP5F1A | - | - |
GRCh38 GRCh37 |
175 | 247 |
There are 588 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000136910.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024