Source: CLINVAR ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 GeneticVariation CLINVAR Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families. 30414346 2019
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 GeneticVariation CLINVAR Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma. 28125078 2017
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 CausalMutation CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189 2016
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 CausalMutation CLINVAR Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF. 27473757 2016
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 CausalMutation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691 2015
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 GeneticVariation CLINVAR Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study. 24767713 2014
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 GeneticVariation CLINVAR MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors. 24406078 2014
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 GeneticVariation CLINVAR Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 23167872 2013
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 GeneticVariation CLINVAR MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 23787126 2013
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 CausalMutation CLINVAR MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 23787126 2013
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 CausalMutation CLINVAR Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 23167872 2013
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 GeneticVariation CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259 2011
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 CausalMutation CLINVAR A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. 22080950 2011
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 GeneticVariation CLINVAR A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. 22080950 2011
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 CausalMutation CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259 2011
dbSNP: rs104893744
rs104893744
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104893745
rs104893745
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0391816
Disease:
Tietz syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104893747
rs104893747
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057519325
rs1057519325
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C4310625
Disease:
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057519326
rs1057519326
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C4310625
Disease:
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		G 0.800 CausalMutation CLINVAR
dbSNP: rs149617956
rs149617956
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3152204
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs1057517966
rs1057517966
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		T 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs1553702006
rs1553702006
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease:
WAARDENBURG SYNDROME, TYPE IIA 		T 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families. 29115496 2018
dbSNP: rs1553704814
rs1553704814
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C3266898
Disease:
Waardenburg Syndrome 		C 0.700 CausalMutation CLINVAR Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations. 29531335 2018