BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064795638
rs1064795638
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE In the present study we report the identification of a novel germline BAP1 mutation, c.1777C>T, which produces a truncated BAP1 protein product and segregates with cancer. 26774355 2016
dbSNP: rs1064795638
rs1064795638
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0040136
Disease:
Thyroid Neoplasm 		0.010 GeneticVariation BEFREE In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer. 26774355 2016
dbSNP: rs1064795638
rs1064795638
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer. 26774355 2016
dbSNP: rs1064795638
rs1064795638
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0549473
Disease:
Thyroid carcinoma 		0.010 GeneticVariation BEFREE In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer. 26774355 2016
dbSNP: rs1064795638
rs1064795638
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0007115
Disease:
Malignant neoplasm of thyroid 		0.010 GeneticVariation BEFREE In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer. 26774355 2016
dbSNP: rs1064795638
rs1064795638
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE In the present study we report the identification of a novel germline BAP1 mutation, c.1777C>T, which produces a truncated BAP1 protein product and segregates with cancer. 26774355 2016
dbSNP: rs375129361
rs375129361
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.010 GeneticVariation BEFREE By combining whole-exome sequencing and tumor profiling in a family prone to cases of RCC, we identified a germline BAP1 mutation c.277A>G (p.Thr93Ala) as the probable genetic basis of RCC predisposition. 23684012 2013
dbSNP: rs387906849
rs387906849
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0220633
Disease:
Uveal melanoma 		0.010 GeneticVariation BEFREE Of the 53 UM patients studied, a single patient was identified with a germline BAP1 truncating mutation, c. 799 C→T (p.Q267X), which segregated in several family members and was associated with UM and other cancers. 21941004 2011
dbSNP: rs1060503726
rs1060503726
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060503727
rs1060503727
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1060503731
rs1060503731
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060503732
rs1060503732
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1060503735
rs1060503735
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		G 0.700 CausalMutation CLINVAR Germline BAP1 mutations predispose to malignant mesothelioma. 21874000 2011
dbSNP: rs1060503735
rs1060503735
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		G 0.700 CausalMutation CLINVAR Germline BAP1 mutations predispose to renal cell carcinomas. 23684012 2013
dbSNP: rs1060503735
rs1060503735
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1060503743
rs1060503743
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1060503744
rs1060503744
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060503750
rs1060503750
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1060503750
rs1060503750
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1064795638
rs1064795638
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs112194987
rs112194987
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 GeneticVariation CLINVAR Germline BAP1 mutations predispose to renal cell carcinomas. 23684012 2013
dbSNP: rs112194987
rs112194987
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 GeneticVariation CLINVAR Germline BAP1 mutations predispose to malignant mesothelioma. 21874000 2011
dbSNP: rs1253151209
rs1253151209
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. 22545102 2012
dbSNP: rs1351986946
rs1351986946
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		C 0.700 CausalMutation CLINVAR
dbSNP: rs143901408
rs143901408
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		C 0.700 CausalMutation CLINVAR