ClinVar Genomic variation as it relates to human health
GLI2, 1256TER
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 | |||
GLI2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
943 | 972 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 1, 2005 | RCV000128395.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 18, 2023
After review of PubMed 15994174, NCBI staff could not confirm that the published change of 3768C>T in transcript DQ086814 will produce an in-frame termination codon at codon 1256.