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Links from MedGen

Items: 1 to 100 of 236

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHP3, NPHP3-ACAD11
(R973*)
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related Meckel-like syndrome
GPathogenic
NPHP3, NPHP3-ACAD11
(Q250*)
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related Meckel-like syndrome
GPathogenic
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis
+3 more
GLikely benign
LOC129937586, NPHP3
+2 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Renal-hepatic-pancreatic dysplasia 1
+3 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related disorder
+4 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis
+3 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis
+3 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis 3
+3 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis
+3 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis
+3 more
GLikely benign
NPHP3, NPHP3-ACAD11
Deletion
(intron variant)
Nephronophthisis
+3 more
GLikely benign
NPHP3, NPHP3-ACAD11
(K999Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(G1300R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
LOC129937586, NPHP3
+2 more
(A52V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(N1097S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(M768L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(R1259*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GPathogenic/Likely pathogenic
NPHP3, NPHP3-ACAD11
(R157fs)
Deletion
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GPathogenic
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+3 more
GConflicting classifications of pathogenicity
LOC129937586, NPHP3
+2 more
(K75R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(D320Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(R724C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
+1 more
(M1fs)
Duplication
(non-coding transcript variant +2 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(I755V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(C1145R)
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related disorder
+5 more
GUncertain significance
NPHP3, NPHP3-ACAD11
+2 more
(R62H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
LOC129937586, NPHP3
+2 more
(E26K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(E1013D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(I771V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(splice donor variant)
NPHP3-related Meckel-like syndrome
+3 more
GLikely pathogenic
NPHP3, NPHP3-ACAD11
(S407fs)
Microsatellite
(non-coding transcript variant +1 more)
NPHP3-related Meckel-like syndrome
GLikely pathogenic
NPHP3-ACAD11, NPHP3
(G1069R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
NPHP3-related disorder
+4 more
GBenign/Likely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
NPHP3-related disorder
+4 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis 3
+3 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related disorder
+4 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis
+3 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related disorder
+4 more
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+3 more
GLikely benign
NPHP3, NPHP3-ACAD11
(L1253V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+2 more
GLikely pathogenic
LOC129937586, NPHP3
+2 more
(G54E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(E1278V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(I343T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(H703Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
+1 more
(E116K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(E492D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(R1125Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(Q286E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(Y441C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(P1174L)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
LOC129937586, NPHP3
+2 more
(L70P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis 3
+4 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
(I625V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(A1046G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(E833Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+4 more
GUncertain significance
NPHP3-AS1, LOC129937586
+2 more
(R39L)
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related disorder
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(P979L)
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related Meckel-like syndrome
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(L889P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(Y509H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(G719S)
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related disorder
+5 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(G505R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis 3
+3 more
GUncertain significance
NPHP3-ACAD11, NPHP3
(P1303S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+3 more
GUncertain significance
LOC129937586, NPHP3
+2 more
(G63E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(L1109R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(V1269M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(L1241S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
LOC129937586, NPHP3
+2 more
(S79L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
NPHP3-ACAD11, NPHP3
(R951*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+4 more
GPathogenic/Likely pathogenic
NPHP3, NPHP3-ACAD11
(C741Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis 3
+4 more
GUncertain significance
NPHP3-ACAD11, NPHP3
Single nucleotide variant
(intron variant)
NPHP3-related Meckel-like syndrome
+1 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(3 prime UTR variant)
Renal-hepatic-pancreatic dysplasia 1
+2 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(3 prime UTR variant)
Renal-hepatic-pancreatic dysplasia 1
+2 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(3 prime UTR variant)
NPHP3-related Meckel-like syndrome
+2 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(3 prime UTR variant)
Renal-hepatic-pancreatic dysplasia 1
+2 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
NPHP3-related Meckel-like syndrome
+2 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(3 prime UTR variant)
NPHP3-related Meckel-like syndrome
+2 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(3 prime UTR variant)
NPHP3-related Meckel-like syndrome
+2 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(K167T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(S586C)
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related Meckel-like syndrome
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(3 prime UTR variant)
Renal-hepatic-pancreatic dysplasia 1
+2 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis 3
+3 more
GConflicting classifications of pathogenicity
NPHP3, NPHP3-ACAD11
(I618S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+2 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(L1096F)
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related Meckel-like syndrome
+2 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(3 prime UTR variant)
Renal-hepatic-pancreatic dysplasia 1
+2 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(3 prime UTR variant)
Renal-hepatic-pancreatic dysplasia 1
+2 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(3 prime UTR variant)
Renal-hepatic-pancreatic dysplasia 1
+2 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(V631I)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(P659L)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 1
+4 more
GUncertain significance
NPHP3-ACAD11, NPHP3
(D344E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
LOC129937586, NPHP3
+2 more
(A49V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(I619M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(S1217R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(splice acceptor variant)
Nephronophthisis
+4 more
GPathogenic
NPHP3, NPHP3-ACAD11
(T593A)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
+3 more
GUncertain significance
NPHP3, NPHP3-ACAD11
(I755L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
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