|
rs149617956
|
|
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 |
|
rs149617956
|
|
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 |
|
rs149617956
|
|
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 |
|
rs149617956
|
|
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 |
|
rs149617956
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
|
25803691 |
2015 |
|
rs149617956
|
|
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 |
|
rs149617956
|
|
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 |
|
rs149617956
|
|
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 |
|
rs149617956
|
|
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 |
|
rs149617956
|
|
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 |
|
rs149617956
|
|
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 |
|
rs149617956
|
|
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 |
|
rs149617956
|
|
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 |
|
rs149617956
|
|
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 |
|
rs149617956
|
|
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 |
|
rs149617956
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
|
A |
0.800 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
rs149617956
|
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs149617956
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
|
27153395 |
2016 |
|
rs149617956
|
|
Mild microcephaly
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
|
26650189 |
2016 |
|
rs149617956
|
|
Moderate intellectual disability
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
|
26650189 |
2016 |
|
rs149617956
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
|
26650189 |
2016 |
|
rs149617956
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.
|
26775776 |
2016 |
|
rs149617956
|
|
Narrow face
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
|
26650189 |
2016 |
|
rs149617956
|
|
Tietz syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.
|
27473757 |
2016 |
|
rs149617956
|
|
Attention deficit hyperactivity disorder
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
|
26650189 |
2016 |