ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)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 | |
GALR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
23 | 193 | |
SMAD2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
319 | 357 | |
ZNF407 | No evidence available | No evidence available |
GRCh38 GRCh37 |
281 | 496 | |
ACAA2 | - | - |
GRCh38 GRCh37 |
26 | 67 | |
ADNP2 | - | - |
GRCh38 GRCh37 |
74 | 250 | |
ALPK2 | - | - |
GRCh38 GRCh37 |
1795 | 2778 |
There are 879 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 3, 2013 | RCV000142227.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024