Gene: KIT ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519703
rs1057519703
KIT
C 0.700 CausalMutation CLINVAR Transcriptome sequencing of melanocytic nevi and melanomas from Grm1 transgenic mice to determine melanoma driver mutations. 24661573

2014
dbSNP: rs1057519703
rs1057519703
KIT
T 0.700 CausalMutation CLINVAR The GIST of targeted therapy for malignant melanoma. 24531699

2014
dbSNP: rs1057519703
rs1057519703
KIT
T 0.700 CausalMutation CLINVAR Transcriptome sequencing of melanocytic nevi and melanomas from Grm1 transgenic mice to determine melanoma driver mutations. 24661573

2014
dbSNP: rs1057519704
rs1057519704
KIT
A 0.700 CausalMutation CLINVAR Activating c-KIT mutations in a subset of thymic carcinoma and response to different c-KIT inhibitors. 22357254

2012
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: rs1057519705
rs1057519705
KIT
G 0.700 CausalMutation CLINVAR Transcriptome sequencing of melanocytic nevi and melanomas from Grm1 transgenic mice to determine melanoma driver mutations. 24661573

2014
dbSNP: rs1057519705
rs1057519705
KIT
G 0.700 CausalMutation CLINVAR The GIST of targeted therapy for malignant melanoma. 24531699

2014
dbSNP: rs1057519706
rs1057519706
KIT
G 0.700 CausalMutation CLINVAR Transcriptome sequencing of melanocytic nevi and melanomas from Grm1 transgenic mice to determine melanoma driver mutations. 24661573

2014
dbSNP: rs1057519706
rs1057519706
KIT
G 0.700 CausalMutation CLINVAR The GIST of targeted therapy for malignant melanoma. 24531699

2014
dbSNP: rs1057519708
rs1057519708
KIT
A 0.700 CausalMutation CLINVAR The GIST of targeted therapy for malignant melanoma. 24531699

2014
dbSNP: rs1057519708
rs1057519708
KIT
A 0.700 CausalMutation CLINVAR Transcriptome sequencing of melanocytic nevi and melanomas from Grm1 transgenic mice to determine melanoma driver mutations. 24661573

2014
dbSNP: rs1057519708
rs1057519708
KIT
G 0.700 CausalMutation CLINVAR KIT amplification and gene mutations in acral/mucosal melanoma in Korea. 21569090

2011
dbSNP: rs1057519713
rs1057519713
KIT
C 0.700 CausalMutation CLINVAR Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. 23582185

2013
dbSNP: rs121913235
rs121913235
KIT
A 0.700 CausalMutation CLINVAR Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. 7530509

1995
dbSNP: rs121913235
rs121913235
KIT
C 0.700 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001
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 Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 19671763

2009
dbSNP: rs121913235
rs121913235
KIT
C 0.700 CausalMutation CLINVAR Sunitinib therapy for melanoma patients with KIT mutations. 22261812

2012
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
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 L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. 17372901

2007
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 Sunitinib therapy for melanoma patients with KIT mutations. 22261812

2012
dbSNP: rs121913235
rs121913235
KIT
C 0.700 CausalMutation CLINVAR Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib. 18936790

2008