CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
Disease: Juvenile Myelomonocytic Leukemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906666
rs387906666
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		0.710 GeneticVariation BEFREE The penetrance of the CBL Y371C mutation was 30% for JMML and 40% for all leukemia. 25939664 2015
dbSNP: rs387906666
rs387906666
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		C 0.710 GeneticVariation CLINVAR
dbSNP: rs387906666
rs387906666
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		C 0.710 CausalMutation CLINVAR
dbSNP: rs727504426
rs727504426
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.700 CausalMutation CLINVAR Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia. 21901340 2012
dbSNP: rs727504426
rs727504426
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.700 CausalMutation CLINVAR Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia. 20955399 2010
dbSNP: rs727504426
rs727504426
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.700 CausalMutation CLINVAR Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 20694012 2010
dbSNP: rs727504426
rs727504426
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.700 CausalMutation CLINVAR Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 19571318 2009
dbSNP: rs267606706
rs267606706
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		0.010 GeneticVariation BEFREE Trio whole-exome sequencing (WES) identified a pathogenic de novo heterozygous germline CBL variant (c.1111T > C, p.Y371H), previously reported to cause CBL syndrome and implicated in development of juvenile myelomonocytic leukemia (JMML). 28414188 2017
dbSNP: rs776906066
rs776906066
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		0.010 GeneticVariation BEFREE In the present study, we report 2 patients with somatic mosaicism for oncogenic NRAS mutations (G12D and G12S) associated with the development of JMML. 22753870 2012