U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 93

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHP1
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
NPHP1-related condition
+2 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
Senior-Loken syndrome 1
+5 more
GConflicting classifications of pathogenicity
NPHP1
(Q694R +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
NPHP1
(E679del +4 more)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
NPHP1
(E677Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
NPHP1
(R669H +4 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
NPHP1
(R669C +4 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 1
+4 more
GUncertain significance
NPHP1
(T652M +4 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
+4 more
GUncertain significance
NPHP1
(L594P +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NPHP1
(Q587E +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NPHP1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NPHP1
(M576V +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+1 more
GUncertain significance
NPHP1
(I454fs +4 more)
Deletion
(frameshift variant)
Joubert syndrome and related disorders
+4 more
GPathogenic
NPHP1
(E570G +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+4 more
GUncertain significance
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP1
Deletion
(intron variant)
NPHP1-related condition
+2 more
GConflicting classifications of pathogenicity
NPHP1
(R546K +4 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 1
+6 more
GConflicting classifications of pathogenicity
NPHP1
(Y539C +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
NPHP1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NPHP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NPHP1
(I529M +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+2 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
NPHP1
(R445C +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LOC126806306, NPHP1
(W437G +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC126806306, NPHP1
(I422V +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NPHP1
(R409H +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
NPHP1
(L277fs +4 more)
Duplication
(frameshift variant)
Nephronophthisis
+1 more
GPathogenic
NPHP1
(P395R +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+4 more
GUncertain significance
NPHP1
(I385T +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+1 more
GUncertain significance
NPHP1
(T374I +4 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
NPHP1
(G373S +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+1 more
GUncertain significance
NPHP1
(A370G +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+4 more
GUncertain significance
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
NPHP1
(M357I +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+1 more
GUncertain significance
NPHP1
(L356F +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NPHP1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
+2 more
GBenign
NPHP1
(G343R +4 more)
Single nucleotide variant
(missense variant)
NPHP1-Related Disorders
+3 more
GPathogenic
NPHP1
(Q219L +4 more)
Indel
(missense variant)
not provided
GUncertain significance
NPHP1
(T335M +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+5 more
GBenign/Likely benign
NPHP1
(I327V +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+1 more
GUncertain significance
NPHP1
(G325R +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 1
+4 more
GUncertain significance
NPHP1
(M324T +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+5 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
NPHP1
(V320M +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis 1
+4 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
+2 more
GBenign/Likely benign
NPHP1
(G302E)
Single nucleotide variant
(missense variant +1 more)
NPHP1-related condition
+4 more
GConflicting classifications of pathogenicity
NPHP1
(N287S)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 1
+4 more
GUncertain significance
NPHP1
(R277Q)
Single nucleotide variant
(missense variant +1 more)
NPHP1-related condition
+6 more
GBenign/Likely benign
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+4 more
GBenign
NPHP1
(C270F)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome with renal defect
+4 more
GConflicting classifications of pathogenicity
NPHP1
(A258V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NPHP1
(A238S +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 1
+3 more
GUncertain significance
NPHP1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
NPHP1
Microsatellite
(inframe_insertion)
Nephronophthisis
+6 more
GUncertain significance
NPHP1
Duplication
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
NPHP1
(L207V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NPHP1
(P186fs +1 more)
Duplication
(frameshift variant)
Inborn genetic diseases
+4 more
GPathogenic
NPHP1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NPHP1
(A165T +1 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+4 more
GUncertain significance
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP1
(G154S +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome with renal defect
+4 more
GUncertain significance
NPHP1
(E147K +1 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+2 more
GUncertain significance
NPHP1
Microsatellite
(inframe_deletion)
NPHP1-related condition
+4 more
GConflicting classifications of pathogenicity
NPHP1
(E139* +1 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
NPHP1
(S129del +1 more)
Deletion
(inframe_deletion)
Nephronophthisis
+1 more
GUncertain significance
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(intron variant)
NPHP1-related condition
+2 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(intron variant +1 more)
Joubert syndrome and related disorders
+5 more
GPathogenic/Likely pathogenic
NPHP1
(I103T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NPHP1
(Y78H)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+5 more
GConflicting classifications of pathogenicity
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
NPHP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NPHP1
(K68Q)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+4 more
GUncertain significance
NPHP1
(A62T)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
NPHP1
(I45L)
Single nucleotide variant
(missense variant)
Kidney disorder
+3 more
GBenign/Likely benign
NPHP1
(P39T)
Single nucleotide variant
(missense variant)
Nephronophthisis
+5 more
GBenign
NPHP1
Single nucleotide variant
(synonymous variant)
NPHP1-related condition
+2 more
GConflicting classifications of pathogenicity
NPHP1
(K21E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
NPHP1
(N17S)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 1
+4 more
GUncertain significance
NPHP1
(R5L)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 102
+7 more
GBenign/Likely benign
NPHP1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination