Gene: KIT ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519702
rs1057519702
KIT
C 0.700 CausalMutation CLINVAR Genetic aberrations in primary esophageal melanomas: molecular analysis of c-KIT, PDGFR, KRAS, NRAS and BRAF in a series of 10 cases. 21131919

2011
dbSNP: rs1057519704
rs1057519704
KIT
A 0.700 CausalMutation CLINVAR Impressive response with imatinib in a heavily pretreated patient with metastatic c-KIT mutated thymic carcinoma. 21969494

2011
dbSNP: rs1057519708
rs1057519708
KIT
G 0.700 CausalMutation CLINVAR KIT amplification and gene mutations in acral/mucosal melanoma in Korea. 21569090

2011
dbSNP: rs121913235
rs121913235
KIT
C 0.700 CausalMutation CLINVAR Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification. 21690468

2011
dbSNP: rs121913235
rs121913235
KIT
A 0.700 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685

2011
dbSNP: rs121913235
rs121913235
KIT
A 0.700 CausalMutation CLINVAR Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification. 21690468

2011
dbSNP: rs121913235
rs121913235
KIT
C 0.700 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685

2011
dbSNP: rs121913506
rs121913506
KIT
C 0.700 CausalMutation CLINVAR Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification. 21690468

2011
dbSNP: rs121913506
rs121913506
KIT
C 0.700 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685

2011
dbSNP: rs121913512
rs121913512
KIT
G 0.700 GeneticVariation CLINVAR Marked response to imatinib mesylate in metastatic acral lentiginous melanoma on the thumb. 20545949

2011
dbSNP: rs121913514
rs121913514
KIT
G 0.700 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685

2011
dbSNP: rs121913517
rs121913517
KIT
A 0.700 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685

2011
dbSNP: rs121913517
rs121913517
KIT
A 0.700 CausalMutation CLINVAR Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification. 21690468

2011
dbSNP: rs121913517
rs121913517
KIT
C 0.700 GeneticVariation CLINVAR V559A and N822I double KIT mutant melanoma with predictable response to imatinib? 21159146

2011
dbSNP: rs121913523
rs121913523
KIT
C 0.700 CausalMutation CLINVAR "Study of the role of ""gatekeeper"" mutations V654A and T670I of c-kit kinase in the interaction with inhibitors by means mixed molecular dynamics/docking approach." 22355224

2011
dbSNP: rs993022333
rs993022333
KIT
T 0.700 CausalMutation CLINVAR V559A and N822I double KIT mutant melanoma with predictable response to imatinib? 21159146

2011
dbSNP: rs121913235
rs121913235
KIT
A 0.700 CausalMutation CLINVAR Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. 19812602

2010
dbSNP: rs121913235
rs121913235
KIT
C 0.700 CausalMutation CLINVAR Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. 19812602

2010
dbSNP: rs121913517
rs121913517
KIT
C 0.700 GeneticVariation CLINVAR Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. 19812602

2010
dbSNP: rs121913517
rs121913517
KIT
A 0.700 CausalMutation CLINVAR Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. 19812602

2010
dbSNP: rs121913235
rs121913235
KIT
A 0.700 CausalMutation CLINVAR Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 19671763

2009
dbSNP: rs121913235
rs121913235
KIT
C 0.700 CausalMutation CLINVAR Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 19671763

2009
dbSNP: rs121913517
rs121913517
KIT
A 0.700 CausalMutation CLINVAR Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 19671763

2009
dbSNP: rs121913235
rs121913235
KIT
A 0.700 CausalMutation CLINVAR Major response to imatinib mesylate in KIT-mutated melanoma. 18421059

2008
dbSNP: rs121913235
rs121913235
KIT
A 0.700 CausalMutation CLINVAR KIT gene mutations and copy number in melanoma subtypes. 18980976

2008