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Links from MedGen

Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEK8
(I31V)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
GUncertain significance
NEK8
(A48P)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
GUncertain significance
LOC130060574, NEK8
Single nucleotide variant
(splice donor variant)
Renal-hepatic-pancreatic dysplasia 2
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Renal-hepatic-pancreatic dysplasia 2
+1 more
GConflicting classifications of pathogenicity
NEK8
(G13S)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
GUncertain significance
NEK8
(R383P)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
GUncertain significance
NEK8
(E103del)
Microsatellite
(inframe_deletion)
Renal-hepatic-pancreatic dysplasia 2
GUncertain significance
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
+1 more
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
+1 more
GLikely benign
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
+1 more
GLikely benign
NEK8
Single nucleotide variant
(intron variant)
Renal-hepatic-pancreatic dysplasia 2
+1 more
GLikely benign
NEK8
(S579L)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
(E90G)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
+1 more
GUncertain significance
NEK8
(T286R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NEK8
(H454fs)
Microsatellite
(frameshift variant)
Nephronophthisis 9
+1 more
GPathogenic/Likely pathogenic
NEK8
(P360S)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
+1 more
GUncertain significance
NEK8
(P179R)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
GUncertain significance
NEK8
Duplication
(frameshift variant)
Renal-hepatic-pancreatic dysplasia 2
GPathogenic
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
+1 more
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
Renal-hepatic-pancreatic dysplasia 2
+1 more
GConflicting classifications of pathogenicity
NEK8
(T667M)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
(P691L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NEK8
Deletion
(frameshift variant +1 more)
Nephronophthisis 9
+1 more
GUncertain significance
NEK8
(F109del)
Microsatellite
(inframe_deletion)
Renal-hepatic-pancreatic dysplasia 2
GLikely pathogenic
NEK8
(S389L)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
+1 more
GUncertain significance
NEK8
(R8G)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+1 more
GUncertain significance
NEK8
(G418S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NEK8
(S382L)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
(V690I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NEK8
(H664Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NEK8
(R656Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NEK8
(R598H)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+1 more
GUncertain significance
NEK8
(M329V)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
+1 more
GUncertain significance
NEK8
(S312L)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+1 more
GUncertain significance
LOC130060573, NEK8
Single nucleotide variant
(synonymous variant)
Renal-hepatic-pancreatic dysplasia 2
+1 more
GBenign/Likely benign
NEK8
Single nucleotide variant
(synonymous variant)
NEK8-related disorder
+2 more
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
NEK8-related disorder
+2 more
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
NEK8-related disorder
+3 more
GLikely benign
NEK8
(G416S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NEK8
(R326W)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
(G346S)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+1 more
GUncertain significance
NEK8
(S367T)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
+1 more
GUncertain significance
NEK8
(R326Q)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+1 more
GUncertain significance
NEK8
Single nucleotide variant
(splice donor variant)
Renal-hepatic-pancreatic dysplasia 2
+1 more
GLikely pathogenic
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
+2 more
GLikely benign
NEK8
(R462*)
Single nucleotide variant
(nonsense)
Renal-hepatic-pancreatic dysplasia 2
GPathogenic
NEK8
(R127*)
Single nucleotide variant
(nonsense)
Nephronophthisis 9
+1 more
GPathogenic
NEK8
Single nucleotide variant
(splice donor variant)
Renal-hepatic-pancreatic dysplasia 2
GPathogenic
NEK8
(G580S)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
GPathogenic
NEK8
(R602W)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
(T87A)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
GPathogenic
NEK8
(T348M)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Duplication
(frameshift variant +1 more)
not provided
GLikely pathogenic
NEK8
(E195K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
NEK8
(R683Q)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
(I393M)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
(R294C)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
+1 more
GUncertain significance
NEK8
(V334M)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
NEK8
(R140L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
NEK8
Microsatellite
(intron variant)
Nephronophthisis 9
+3 more
GBenign/Likely benign
NEK8
(R352L)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
(W467*)
Single nucleotide variant
(nonsense)
Renal-hepatic-pancreatic dysplasia 2
+1 more
GPathogenic/Likely pathogenic
NEK8
(R599*)
Single nucleotide variant
(nonsense)
Renal-hepatic-pancreatic dysplasia 2
+2 more
GPathogenic/Likely pathogenic
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