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Items: 1 to 100 of 191

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
+2 more
GLikely benign
NEK8
(R8G)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+3 more
GUncertain significance
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GConflicting classifications of pathogenicity
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
+1 more
GConflicting classifications of pathogenicity
NEK8
(R45W)
Single nucleotide variant
(missense variant)
Familial cystic renal disease
+2 more
GConflicting classifications of pathogenicity
NEK8
(A47S)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
(N62K)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(A83V)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(E90G)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+1 more
GUncertain significance
NEK8
(R95H)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
(C96R)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GLikely benign
NEK8
(C96F)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
+1 more
GConflicting classifications of pathogenicity
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(I105V)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEK8
(V110M)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(R127*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease 8
+2 more
GPathogenic
NEK8
(L129F)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GLikely benign
NEK8
(R140H)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
(R140L)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+4 more
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(G146V)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(A160S)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+1 more
GUncertain significance
LOC130060567, NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
LOC130060567, NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(Y194S)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GConflicting classifications of pathogenicity
NEK8
(E195K)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+3 more
GUncertain significance
NEK8
(R201T)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GConflicting classifications of pathogenicity
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(S217T)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GUncertain significance
NEK8
(T219N)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
(D225H)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
(R246Q)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
(P248fs)
Deletion
(frameshift variant)
Nephronophthisis 9
GPathogenic
NEK8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(R260H)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+3 more
GUncertain significance
NEK8
(D268N)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(splice acceptor variant)
Nephronophthisis 9
GLikely pathogenic
NEK8
(V281M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
NEK8
(T286R)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
(R294C)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
+2 more
GUncertain significance
NEK8
(R294H)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
(C295fs)
Deletion
(frameshift variant)
Nephronophthisis 9
GPathogenic
NEK8
(R296G)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(splice donor variant)
Renal-hepatic-pancreatic dysplasia 2
+2 more
GLikely pathogenic
NEK8
Deletion
(splice donor variant)
Nephronophthisis 9
GLikely pathogenic
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
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
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
(R300Q)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(V303M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(S312L)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+1 more
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
+2 more
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
+1 more
GConflicting classifications of pathogenicity
NEK8
(R326W)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
(R326Q)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
+2 more
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(M329V)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+1 more
GUncertain significance
NEK8
(L330F)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+2 more
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
+1 more
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(V347I)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GConflicting classifications of pathogenicity
NEK8
(T348M)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(R349C)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
(S350F)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
(R352L)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+3 more
GUncertain significance
NEK8
Deletion
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
+1 more
GLikely benign
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
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