Gene: PKHD1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1210846081
rs1210846081
PKHD1
C 0.800 GeneticVariation CLINVAR Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). 16523049

2006
dbSNP: rs1210846081
rs1210846081
PKHD1
C 0.800 GeneticVariation CLINVAR Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. 15805161

2005
dbSNP: rs1210846081
rs1210846081
PKHD1
C 0.800 GeneticVariation CLINVAR Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454

2003
dbSNP: rs1210846081
rs1210846081
PKHD1
C 0.800 GeneticVariation CLINVAR A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. 12846734

2003
dbSNP: rs1210846081
rs1210846081
PKHD1
C 0.800 GeneticVariation CLINVAR G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss. 16632497

2006
dbSNP: rs142107837
rs142107837
PKHD1
T 0.800 GeneticVariation CLINVAR Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454

2003
dbSNP: rs142107837
rs142107837
PKHD1
T 0.800 GeneticVariation CLINVAR Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1. 24984783

2014
dbSNP: rs142107837
rs142107837
PKHD1
T 0.800 GeneticVariation CLINVAR Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). 15706593

2005
dbSNP: rs142107837
rs142107837
PKHD1
T 0.800 GeneticVariation CLINVAR Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly. 25966130

2015
dbSNP: rs142107837
rs142107837
PKHD1
T 0.800 GeneticVariation CLINVAR Molecular genetics of autosomal recessive polycystic kidney disease. 14741187

2004
dbSNP: rs142107837
rs142107837
PKHD1
T 0.800 GeneticVariation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003
dbSNP: rs142107837
rs142107837
PKHD1
T 0.800 GeneticVariation CLINVAR Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). 15698423

2005
dbSNP: rs142107837
rs142107837
PKHD1
T 0.800 GeneticVariation CLINVAR Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. 15805161

2005
dbSNP: rs148617572
rs148617572
PKHD1 ; LOC105375087
A 0.800 GeneticVariation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003
dbSNP: rs148617572
rs148617572
PKHD1 ; LOC105375087
A 0.800 GeneticVariation CLINVAR Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. 15805161

2005
dbSNP: rs148617572
rs148617572
PKHD1 ; LOC105375087
A 0.800 GeneticVariation CLINVAR PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 15108281

2004
dbSNP: rs148617572
rs148617572
PKHD1 ; LOC105375087
A 0.800 GeneticVariation CLINVAR Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. 19940839

2010
dbSNP: rs1554218666
rs1554218666
PKHD1
A 0.800 GeneticVariation CLINVAR PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 15108281

2004
dbSNP: rs1554218666
rs1554218666
PKHD1
A 0.800 GeneticVariation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs200179145
rs200179145
PKHD1
T 0.800 GeneticVariation CLINVAR A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. 12846734

2003
dbSNP: rs200179145
rs200179145
PKHD1
T 0.800 GeneticVariation CLINVAR The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560

2002
dbSNP: rs200179145
rs200179145
PKHD1
T 0.800 GeneticVariation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010
dbSNP: rs200179145
rs200179145
PKHD1
T 0.800 GeneticVariation CLINVAR Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). 15698423

2005
dbSNP: rs200179145
rs200179145
PKHD1
T 0.800 GeneticVariation CLINVAR Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). 16523049

2006
dbSNP: rs200179145
rs200179145
PKHD1
T 0.800 GeneticVariation CLINVAR PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). 15108277

2004