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Items: 1 to 100 of 170

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHP3, NPHP3-ACAD11
(F1324S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(N1322del)
Deletion
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(S1314T)
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related Meckel-like syndrome
+5 more
GBenign/Likely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3, NPHP3-ACAD11
(K1301Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(G1299D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis 3
+5 more
GConflicting classifications of pathogenicity
NPHP3-ACAD11, NPHP3
(M1288T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NPHP3, NPHP3-ACAD11
(L1270P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(R1255W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+5 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(S1252R)
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related condition
+5 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+5 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
Duplication
(intron variant)
NPHP3-related condition
+2 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
Deletion
(intron variant)
Nephronophthisis
+1 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GBenign/Likely benign
NPHP3-ACAD11, NPHP3
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related Meckel-like syndrome
+6 more
GBenign/Likely benign
NPHP3, NPHP3-ACAD11
(A1221V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+5 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Kidney disorder
+5 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
NPHP3-ACAD11, NPHP3
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
NPHP3, NPHP3-ACAD11
(I1185V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3, NPHP3-ACAD11
(A1184T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+6 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(R1167H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(R1167C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+5 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(R1165Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis 3
+5 more
GConflicting classifications of pathogenicity
NPHP3-ACAD11, NPHP3
(R1165W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(R1125*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+4 more
GPathogenic
NPHP3, NPHP3-ACAD11
(R1118H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+2 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(Y1104C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Kidney disorder
+5 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(G1100A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
NPHP3-ACAD11, NPHP3
(R1094Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+5 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(Q1079H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(R1076W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(R1074H)
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related condition
+3 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related Meckel-like syndrome
+6 more
GBenign/Likely benign
NPHP3, NPHP3-ACAD11
Deletion
(intron variant)
Nephronophthisis
+2 more
GBenign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3, NPHP3-ACAD11
(A1034T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related Meckel-like syndrome
+6 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(A1027S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+5 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(A1021V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(G1020D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis 3
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(A1011V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(W998*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
NPHP3, NPHP3-ACAD11
(V996M)
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related Meckel-like syndrome
+5 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(R983K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(D980N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Renal-hepatic-pancreatic dysplasia 1
+4 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(Q961E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(M939I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+5 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(M918V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(V911I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Deletion
(splice acceptor variant)
Renal-hepatic-pancreatic dysplasia 1
+5 more
GPathogenic/Likely pathogenic
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(H883Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+4 more
GBenign
NPHP3, NPHP3-ACAD11
(S865R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3-ACAD11, NPHP3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NPHP3-ACAD11, NPHP3
Single nucleotide variant
(intron variant)
Nephronophthisis
+5 more
GBenign/Likely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(Y791H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3, NPHP3-ACAD11
(L790P)
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related condition
+3 more
GPathogenic/Likely pathogenic
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+4 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(V782M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3-ACAD11, NPHP3
(N776S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(splice acceptor variant)
NPHP3-related Meckel-like syndrome
+3 more
GPathogenic/Likely pathogenic
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(R756W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+5 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(K733E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(R724H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(A723T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NPHP3-ACAD11, NPHP3
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(R705H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(R702Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(K694E)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+5 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+5 more
GBenign/Likely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
Deletion
(splice acceptor variant)
Joubert syndrome and related disorders
+1 more
GPathogenic/Likely pathogenic
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
NPHP3, NPHP3-ACAD11
(I618T)
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related condition
+5 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(L580V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(R577*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GPathogenic
NPHP3, NPHP3-ACAD11
(N553S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(Q511H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GUncertain significance
NPHP3-ACAD11, NPHP3
Deletion
(intron variant)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(M491fs)
Deletion
(non-coding transcript variant +1 more)
not provided
GPathogenic
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