rs1060503526
|
|
Polycystic Kidney, Autosomal Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1131692280
|
|
Polycystic Kidney, Autosomal Dominant
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.
|
22383692 |
2012 |
rs1131692280
|
|
Polycystic Kidney, Autosomal Dominant
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.
|
22863349 |
2012 |
rs1131692280
|
|
Polycystic Kidney, Autosomal Dominant
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
|
17582161 |
2007 |
rs1131692280
|
|
Polycystic Kidney, Autosomal Dominant
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
|
12707387 |
2003 |
rs1131692280
|
|
Polycystic Kidney, Autosomal Dominant
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.
|
11007674 |
2000 |
rs1187336837
|
|
Polycystic Kidney, Autosomal Dominant
|
AC |
0.700 |
CausalMutation
|
CLINVAR |
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
|
22508176 |
2012 |
rs1187336837
|
|
Polycystic Kidney, Autosomal Dominant
|
AC |
0.700 |
CausalMutation
|
CLINVAR |
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
|
18837007 |
2009 |
rs1187336837
|
|
Polycystic Kidney, Autosomal Dominant
|
AC |
0.700 |
CausalMutation
|
CLINVAR |
Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.
|
10411676 |
1999 |
rs121918040
|
|
Polycystic Kidney, Autosomal Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.
|
23300259 |
2013 |
rs121918040
|
|
Polycystic Kidney, Autosomal Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.
|
22383692 |
2012 |
rs121918040
|
|
Polycystic Kidney, Autosomal Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
|
12707387 |
2003 |
rs121918040
|
|
Polycystic Kidney, Autosomal Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.
|
8650545 |
1996 |
rs1232369409
|
|
Polycystic Kidney, Autosomal Dominant
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1302726543
|
|
Polycystic Kidney, Autosomal Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
|
27499327 |
2016 |
rs1302726543
|
|
Polycystic Kidney, Autosomal Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.
|
25333066 |
2014 |
rs1302726543
|
|
Polycystic Kidney, Autosomal Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.
|
22863349 |
2012 |
rs1391596181
|
|
Polycystic Kidney, Autosomal Dominant
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1553925453
|
|
Polycystic Kidney, Autosomal Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.
|
28356211 |
2017 |
rs1553925453
|
|
Polycystic Kidney, Autosomal Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner.
|
25574838 |
2015 |
rs1553925453
|
|
Polycystic Kidney, Autosomal Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.
|
23300259 |
2013 |
rs1553925453
|
|
Polycystic Kidney, Autosomal Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
|
17582161 |
2007 |
rs1553925453
|
|
Polycystic Kidney, Autosomal Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome.
|
16540757 |
2006 |
rs1553925453
|
|
Polycystic Kidney, Autosomal Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning.
|
17100995 |
2006 |
rs1553925453
|
|
Polycystic Kidney, Autosomal Dominant
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
|
15772804 |
2005 |