U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 227

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
LOC130060569, NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
(D268N)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(I105V)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Deletion
(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
(E444*)
Single nucleotide variant
(nonsense)
Nephronophthisis 9
GPathogenic
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
Single nucleotide variant
(splice acceptor variant)
Nephronophthisis 9
GLikely pathogenic
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
GLikely benign
LOC130060573, NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(synonymous 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
(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
Single nucleotide variant
(intron 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
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
(C96R)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GLikely benign
NEK8
(R644Q)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
LOC130060573, NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(C96F)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
(S350F)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
LOC130060574, NEK8
Deletion
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
(R95H)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
(C485Y)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
(A160S)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(intron 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
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(G362R)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
LOC130060569, 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
(V110M)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
LOC130060567, NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
(R499Q)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
+1 more
GUncertain significance
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
(A439V)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(I566V)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GLikely benign
NEK8
(L330F)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
(R480T)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
(G643D)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
(R642*)
Single nucleotide variant
(nonsense)
Nephronophthisis 9
GPathogenic
NEK8
(A83V)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GUncertain significance
NEK8
(R260H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NEK8
(R296G)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(S217T)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
(P692R)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(V281M)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(F402L)
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
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
(D471N)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
+1 more
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
GLikely benign
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
+1 more
GLikely benign
NEK8
(L129F)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GLikely benign
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)
Nephronophthisis 9
GBenign
NEK8
Single nucleotide variant
(synonymous variant)
Nephronophthisis 9
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
(R349C)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
(E90G)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
+1 more
GUncertain significance
NEK8
(N62K)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
GUncertain significance
NEK8
Single nucleotide variant
(intron variant)
Nephronophthisis 9
GUncertain significance
NEK8
(G146V)
Single nucleotide variant
(missense variant)
Nephronophthisis 9
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
(C295fs)
Deletion
(frameshift variant)
Nephronophthisis 9
GPathogenic
NEK8
(Y666*)
Duplication
(nonsense)
Nephronophthisis 9
GPathogenic
NEK8
(P360S)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination