Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517076
rs397517076
CBL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm. 28589114

2017
dbSNP: rs397517076
rs397517076
CBL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Deleterious c-Cbl Exon Skipping Contributes to Human Glioma. 26152360

2015
dbSNP: rs397517076
rs397517076
CBL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. 25952305

2015
dbSNP: rs397517076
rs397517076
CBL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Structural basis for autoinhibition and phosphorylation-dependent activation of c-Cbl. 22266821

2012
dbSNP: rs397517076
rs397517076
CBL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 20619386

2010
dbSNP: rs397517076
rs397517076
CBL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. 20543203

2010
dbSNP: rs397517076
rs397517076
CBL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 20694012

2010