Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007 2009
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation BEFREE With the exception of one mutation (L845S in PKD1), all mutations were novel. 15772804 2005
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. 12220456 2002
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. 11857740 2002
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT A complete mutation screen of the ADPKD genes by DHPLC. 11967008 2002
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients. 12007219 2002
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Mutation screening of the PKD1 transcript by RT-PCR. 12070253 2002
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. 12482949 2002
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family. 11558899 2001
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. 11571556 2001
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. 10729710 2000
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion. 11216660 2000
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Thirteen novel mutations of the replicated region of PKD1 in an Asian population. 11012875 2000
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. 10364515 1999
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Mutational analysis within the 3' region of the PKD1 gene. 10200984 1999
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease. 10577909 1999
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients. 10987650 1999
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene. 10647901 1999
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene. 9521593 1998
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease. 9259200 1997
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		0.810 GeneticVariation UNIPROT Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. 8554072 1996
dbSNP: rs199476100
rs199476100
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C3149841
Disease:
POLYCYSTIC KIDNEY DISEASE 1 		G 0.810 CausalMutation CLINVAR
dbSNP: rs45507199
rs45507199
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs45507199
rs45507199
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs45507199
rs45507199
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013