NEK8 Chromosome 17

NIMA related kinase 8
40 variants 40 Health Risk

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What This Gene Does
This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"NIMA related kinase family|Inversin complex subunits"
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000160602
Associated Conditions (8)
Nephronophthisis 9
Kidney disorder
NEK8-related disorder
Familial cystic renal disease
Polycystic kidney disease 8
Inborn genetic diseases
Renal-hepatic-pancreatic dysplasia 2
Premature ovarian insufficiency
Key Variants
RS11649957
Conflicting classifications of pathogenicity
Nephronophthisis 9, Nephronophthisis 9
Health Risk
RS140255077
Conflicting classifications of pathogenicity
Nephronophthisis 9, Nephronophthisis 9
Health Risk
RS141650477
Conflicting classifications of pathogenicity
Nephronophthisis 9, Kidney disorder, NEK8-related disorder
Health Risk
RS149239987
Conflicting classifications of pathogenicity
Nephronophthisis 9, Nephronophthisis 9
Health Risk
RS1567759130
Conflicting classifications of pathogenicity
Nephronophthisis 9, Familial cystic renal disease, Polycystic kidney disease 8
Health Risk
RS201548032
Conflicting classifications of pathogenicity
Nephronophthisis 9, NEK8-related disorder, Nephronophthisis 9
Health Risk
RS201773965
Conflicting classifications of pathogenicity
Nephronophthisis 9, Nephronophthisis 9
Health Risk
RS368315047
Conflicting classifications of pathogenicity
Nephronophthisis 9, Nephronophthisis 9
Health Risk
RS368802852
Conflicting classifications of pathogenicity
Nephronophthisis 9, Nephronophthisis 9
Health Risk
RS372172665
Conflicting classifications of pathogenicity
Nephronophthisis 9, Inborn genetic diseases, Nephronophthisis 9
Health Risk
RS748430513
Conflicting classifications of pathogenicity
Nephronophthisis 9, Nephronophthisis 9
Health Risk
RS768482115
Conflicting classifications of pathogenicity
Nephronophthisis 9, Nephronophthisis 9
Health Risk
All Variants (40)
RSID Category Clinical Significance Conditions
RS11649957 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS140255077 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS141650477 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Kidney disorder, NEK8-related disorder
RS149239987 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS1567759130 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Familial cystic renal disease, Polycystic kidney disease 8
RS201548032 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, NEK8-related disorder, Nephronophthisis 9
RS201773965 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS368315047 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS368802852 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS372172665 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Inborn genetic diseases, Nephronophthisis 9
RS748430513 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS768482115 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS769058088 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS778770826 Health Risk Conflicting classifications of pathogenicity Renal-hepatic-pancreatic dysplasia 2, NEK8-related disorder, Nephronophthisis 9
RS779393817 Health Risk Conflicting classifications of pathogenicity Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2
RS78886485 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Inborn genetic diseases, Nephronophthisis 9
RS1403427403 Health Risk Likely pathogenic NEK8-related disorder, NEK8-related disorder
RS1555564214 Health Risk Likely pathogenic Nephronophthisis 9, Nephronophthisis 9
RS2034384853 Health Risk Likely pathogenic —
RS2544444797 Health Risk Likely pathogenic Nephronophthisis 9, Nephronophthisis 9
RS749866369 Health Risk Likely pathogenic Nephronophthisis 9, Nephronophthisis 9
RS755820155 Health Risk Likely pathogenic Renal-hepatic-pancreatic dysplasia 2, Renal-hepatic-pancreatic dysplasia 2
RS772543894 Health Risk Likely pathogenic Renal-hepatic-pancreatic dysplasia 2, Renal-hepatic-pancreatic dysplasia 2
RS780247729 Health Risk Likely pathogenic Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2, Polycystic kidney disease 8
RS118204032 Health Risk Pathogenic Nephronophthisis 9, Nephronophthisis 9
RS1226393603 Health Risk Pathogenic Nephronophthisis 9, Nephronophthisis 9
RS1367268677 Health Risk Pathogenic Renal-hepatic-pancreatic dysplasia 2, Renal-hepatic-pancreatic dysplasia 2
RS1555563725 Health Risk Pathogenic —
RS1555563787 Health Risk Pathogenic Renal-hepatic-pancreatic dysplasia 2, Renal-hepatic-pancreatic dysplasia 2
RS1555564134 Health Risk Pathogenic Nephronophthisis 9, Nephronophthisis 9
RS2151732018 Health Risk Pathogenic Renal-hepatic-pancreatic dysplasia 2, Renal-hepatic-pancreatic dysplasia 2
RS2151732872 Health Risk Pathogenic Nephronophthisis 9, Nephronophthisis 9
RS751440831 Health Risk Pathogenic Renal-hepatic-pancreatic dysplasia 2, Renal-hepatic-pancreatic dysplasia 2
RS752792782 Health Risk Pathogenic Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9, Polycystic kidney disease 8
RS763288569 Health Risk Pathogenic Nephronophthisis 9, Nephronophthisis 9
RS770284675 Health Risk Pathogenic Renal-hepatic-pancreatic dysplasia 2, Polycystic kidney disease 8, Nephronophthisis 9
RS1282492342 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9
RS141973397 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9
RS375661404 Health Risk Pathogenic/Likely pathogenic Renal-hepatic-pancreatic dysplasia 2, Premature ovarian insufficiency, Nephronophthisis 9
RS762826555 Health Risk Pathogenic/Likely pathogenic Renal-hepatic-pancreatic dysplasia 2, Renal-hepatic-pancreatic dysplasia 2
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