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Links from MedGen

Items: 1 to 100 of 116

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis 1
+3 more
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
+3 more
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Joubert syndrome with renal defect
+3 more
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
+3 more
GLikely benign
NPHP1
(R303S)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 1
+4 more
GUncertain significance
NPHP1
(A210T +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 1
+4 more
GUncertain significance
NPHP1
(E523K +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 1
+3 more
GUncertain significance
NPHP1
Single nucleotide variant
(splice acceptor variant)
Joubert syndrome with renal defect
+3 more
GLikely pathogenic
NPHP1
(D73G +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome with renal defect
+3 more
GUncertain significance
NPHP1
Single nucleotide variant
(splice donor variant)
Nephronophthisis
+3 more
GLikely pathogenic
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis 1
+3 more
GConflicting classifications of pathogenicity
NPHP1
(G591R +4 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP1
(E164D +1 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 1
+3 more
GUncertain significance
NPHP1
(G138D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
NPHP1
(R467Q +4 more)
Single nucleotide variant
(missense variant)
Joubert syndrome with renal defect
+4 more
GUncertain significance
NPHP1
Copy number loss
Senior-Loken syndrome 1
+2 more
GPathogenic
NPHP1
Copy number loss
Senior-Loken syndrome 1
+2 more
GPathogenic
NPHP1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant)
NPHP1-related disorder
+4 more
GLikely benign
NPHP1
(D100fs +1 more)
Deletion
(frameshift variant)
Joubert syndrome with renal defect
+4 more
GPathogenic/Likely pathogenic
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
Senior-Loken syndrome 1
+3 more
GConflicting classifications of pathogenicity
NPHP1
(M425V +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
NPHP1
(I487T +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+4 more
GUncertain significance
NPHP1
(M337L +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
NPHP1
(A570T +4 more)
Single nucleotide variant
(missense variant)
Joubert syndrome with renal defect
+2 more
GUncertain significance
NPHP1
(A644T +4 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP1
(R530* +4 more)
Single nucleotide variant
(nonsense)
Joubert syndrome with renal defect
+3 more
GPathogenic
NPHP1
Microsatellite
(splice donor variant)
Nephronophthisis
+3 more
GUncertain significance
NPHP1
(I355V +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
NPHP1
(R81K)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP1
(V563G +4 more)
Single nucleotide variant
(missense variant)
Joubert syndrome with renal defect
+4 more
GUncertain significance
NPHP1
(R673K +4 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 1
+4 more
GUncertain significance
NPHP1
(V202L +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 1
+4 more
GUncertain significance
NPHP1
(R565W +4 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome with renal defect
+3 more
GUncertain significance
NPHP1
(I632T +4 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome with renal defect
+3 more
GUncertain significance
NPHP1
Single nucleotide variant
(intron variant +1 more)
Joubert syndrome and related disorders
+4 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
NPHP1-related disorder
+4 more
GConflicting classifications of pathogenicity
NPHP1
(E118K +1 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 1
+4 more
GUncertain significance
NPHP1
(V307F)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome with renal defect
+2 more
GUncertain significance
NPHP1
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome with renal defect
+2 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 1
+3 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome with renal defect
+2 more
GUncertain significance
NPHP1
(P564T +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
NPHP1
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome with renal defect
+2 more
GUncertain significance
NPHP1
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome with renal defect
+2 more
GUncertain significance
NPHP1
Single nucleotide variant
Nephronophthisis 1
+2 more
GUncertain significance
NPHP1
Single nucleotide variant
(5 prime UTR variant)
Joubert syndrome with renal defect
+3 more
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome with renal defect
+2 more
GUncertain significance
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
+3 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(intron variant)
Joubert syndrome with renal defect
+2 more
GUncertain significance
NPHP1
Single nucleotide variant
Joubert syndrome with renal defect
+2 more
GUncertain significance
NPHP1
(Y46C)
Single nucleotide variant
(missense variant)
Joubert syndrome with renal defect
+3 more
GUncertain significance
NPHP1
(H601D +4 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome with renal defect
+2 more
GUncertain significance
NPHP1
(R15L)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
NPHP1
(W629* +4 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
+3 more
GPathogenic/Likely pathogenic
NPHP1
(S123N +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome with renal defect
+3 more
GUncertain significance
NPHP1
(E153* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome with renal defect
+3 more
GPathogenic/Likely pathogenic
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+4 more
GLikely benign
NPHP1
Deletion
(intron variant)
Nephronophthisis
+4 more
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
+3 more
GLikely benign
NPHP1
(R228Q +4 more)
Single nucleotide variant
(missense variant)
Joubert syndrome with renal defect
+3 more
GUncertain significance
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome with renal defect
+4 more
GConflicting classifications of pathogenicity
NPHP1
(A238S +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 1
+3 more
GUncertain significance
NPHP1
(E570G +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+4 more
GUncertain significance
NPHP1
(Y539C +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
NPHP1
(E139* +1 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
+4 more
GUncertain significance
NPHP1
(P395R +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+4 more
GUncertain significance
NPHP1
(G154S +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome with renal defect
+4 more
GUncertain significance
NPHP1
(R409H +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
NPHP1
(R347* +4 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome with renal defect
+4 more
GLikely benign
NPHP1
(T335M +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+5 more
GBenign/Likely benign
NPHP1
(R669C +4 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 1
+4 more
GUncertain significance
NPHP1
(G325R +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 1
+4 more
GUncertain significance
NPHP1
(K21E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis 1
+4 more
GConflicting classifications of pathogenicity
NPHP1
(A165T +1 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+4 more
GUncertain significance
NPHP1
(K68Q)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+4 more
GUncertain significance
NPHP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome with renal defect
+3 more
GBenign/Likely benign
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis 1
+5 more
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+3 more
GConflicting classifications of pathogenicity
NPHP1
(N198S +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome with renal defect
+2 more
GUncertain significance
NPHP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome with renal defect
+2 more
GUncertain significance
NPHP1
(N287S)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 1
+4 more
GUncertain significance
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
NPHP1
(G330R +4 more)
Single nucleotide variant
(missense variant)
Joubert syndrome with renal defect
+2 more
GUncertain significance
NPHP1
(R445C +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
NPHP1
(E483Q +4 more)
Single nucleotide variant
(missense variant)
Joubert syndrome with renal defect
+2 more
GUncertain significance
NPHP1
(R546K +4 more)
Single nucleotide variant
(missense variant)
NPHP1-related disorder
+6 more
GConflicting classifications of pathogenicity
NPHP1
(V564L +4 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
NPHP1
(S630L +4 more)
Single nucleotide variant
(missense variant)
NPHP1-related disorder
+4 more
GUncertain significance
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
NPHP1-related disorder
+5 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 1
+2 more
GUncertain significance
NPHP1
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome with renal defect
+2 more
GUncertain significance
NPHP1
(N17S)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 1
+4 more
GUncertain significance
NPHP1
(M324T +4 more)
Single nucleotide variant
(missense variant)
NPHP1-related disorder
+5 more
GConflicting classifications of pathogenicity
NPHP1
(T374I +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 1
+5 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(intron variant +1 more)
Joubert syndrome and related disorders
+5 more
GPathogenic/Likely pathogenic
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