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Items: 1 to 100 of 594

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKHD1
Single nucleotide variant
(stop lost)
Polycystic kidney disease 4
+1 more
GUncertain significance
PKHD1
Single nucleotide variant
(synonymous variant)
Autosomal recessive polycystic kidney disease
+1 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(synonymous variant)
Autosomal recessive polycystic kidney disease
+1 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PKHD1
(G4055R)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+1 more
GUncertain significance
PKHD1
Single nucleotide variant
(synonymous variant)
PKHD1-related condition
+2 more
GConflicting classifications of pathogenicity
PKHD1
(Q4048R)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+3 more
GBenign
PKHD1
(L4037P)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+3 more
GConflicting classifications of pathogenicity
PKHD1
(R4036Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKHD1
(R4036W)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+3 more
GConflicting classifications of pathogenicity
PKHD1
(P4032S)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+1 more
GConflicting classifications of pathogenicity
PKHD1
(Y4009*)
Single nucleotide variant
(nonsense)
PKHD1-related condition
+3 more
GConflicting classifications of pathogenicity
PKHD1
(G3971D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKHD1
(V3960I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
PKHD1
Single nucleotide variant
(synonymous variant)
Autosomal recessive polycystic kidney disease
+1 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(synonymous variant)
Autosomal recessive polycystic kidney disease
+2 more
GConflicting classifications of pathogenicity
PKHD1
(N3940Y)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+1 more
GConflicting classifications of pathogenicity
PKHD1
(V3934I)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+2 more
GConflicting classifications of pathogenicity
PKHD1
(M3930K)
Single nucleotide variant
(missense variant)
PKHD1-related condition
+1 more
GUncertain significance
PKHD1
Single nucleotide variant
(intron variant)
Autosomal recessive polycystic kidney disease
+2 more
GUncertain significance
PKHD1
Deletion
(splice donor variant)
Polycystic kidney disease 4
+1 more
GConflicting classifications of pathogenicity
PKHD1
(S3916*)
Single nucleotide variant
(nonsense)
Autosomal recessive polycystic kidney disease
+3 more
GPathogenic/Likely pathogenic
PKHD1
(I3905N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
PKHD1
(Q3899R)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+3 more
GBenign
PKHD1
Duplication
(intron variant)
not specified
+1 more
GBenign
PKHD1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PKHD1
(A3847S)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+1 more
GUncertain significance
PKHD1
(R3842L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
PKHD1
(V3837I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
PKHD1
Single nucleotide variant
(synonymous variant)
Autosomal recessive polycystic kidney disease
+1 more
GConflicting classifications of pathogenicity
PKHD1
(A3793V)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+2 more
GUncertain significance
PKHD1
(P3780S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PKHD1
(P3749S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKHD1
(Y3737C)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+1 more
GUncertain significance
PKHD1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
PKHD1
(V3721I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKHD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PKHD1
(M3708T)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+1 more
GUncertain significance
PKHD1
(V3701I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKHD1
(R3692*)
Single nucleotide variant
(nonsense)
Autosomal recessive polycystic kidney disease
+2 more
GPathogenic/Likely pathogenic
PKHD1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PKHD1
(D3668Y)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+2 more
GConflicting classifications of pathogenicity
PKHD1
(I3658T)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+3 more
GUncertain significance
PKHD1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PKHD1
(P3651T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKHD1
(H3647P)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+2 more
GUncertain significance
PKHD1
(M3642I)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+4 more
GConflicting classifications of pathogenicity
PKHD1
(R3637H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PKHD1
(R3637C)
Single nucleotide variant
(missense variant)
PKHD1-related condition
+3 more
GUncertain significance
PKHD1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PKHD1
(R3620H)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+3 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PKHD1
(Q3594K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKHD1
(E3582K)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+2 more
GConflicting classifications of pathogenicity
PKHD1
(H3562N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PKHD1
(R3556C)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+2 more
GUncertain significance
PKHD1
(I3555K)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PKHD1
(E3551K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKHD1
(V3546fs)
Deletion
(frameshift variant)
Autosomal recessive polycystic kidney disease
+3 more
GPathogenic
PKHD1
(D3540G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PKHD1
(I3531V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKHD1
(E3529Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PKHD1
(G3511R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(synonymous variant)
Polycystic kidney disease 4
+3 more
GBenign
PKHD1
(S3505R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PKHD1
(S3505N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PKHD1
(V3498I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKHD1
(F3484L)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+2 more
GUncertain significance
PKHD1
(R3482C)
Single nucleotide variant
(missense variant)
PKHD1-related condition
+3 more
GPathogenic/Likely pathogenic
PKHD1
(V3471I)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+1 more
GConflicting classifications of pathogenicity
PKHD1
(T3452A)
Single nucleotide variant
(missense variant)
PKHD1-related condition
+3 more
GConflicting classifications of pathogenicity
PKHD1
(A3418T)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+2 more
GUncertain significance
PKHD1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PKHD1
(Q3407*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
PKHD1
(I3404V)
Single nucleotide variant
(missense variant)
PKHD1-related condition
+3 more
GConflicting classifications of pathogenicity
PKHD1
(N3384H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PKHD1
(C3346R)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+3 more
GUncertain significance
PKHD1
(L3344*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
PKHD1
(R3313K)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+1 more
GConflicting classifications of pathogenicity
PKHD1
(I3309V)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+3 more
GConflicting classifications of pathogenicity
PKHD1
(D3290N)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+2 more
GUncertain significance
PKHD1
(S3289I)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+4 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
PKHD1
(V3263A)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PKHD1
(G3242D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKHD1
(R3240L)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+4 more
GConflicting classifications of pathogenicity
PKHD1
(R3240*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
PKHD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PKHD1
(D3230fs)
Deletion
(frameshift variant)
Polycystic kidney disease 4
+3 more
GPathogenic
PKHD1
Single nucleotide variant
(synonymous variant)
PKHD1-related condition
+2 more
GConflicting classifications of pathogenicity
PKHD1
(P3221L)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+2 more
GConflicting classifications of pathogenicity
PKHD1
(N3191H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PKHD1
(S3187fs)
Deletion
(frameshift variant)
Polycystic kidney disease 4
+2 more
GPathogenic/Likely pathogenic
PKHD1
(V3185I)
Single nucleotide variant
(missense variant)
PKHD1-related condition
+4 more
GConflicting classifications of pathogenicity
PKHD1
(V3165M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PKHD1
(H3160Y)
Single nucleotide variant
(missense variant)
PKHD1-related condition
+3 more
GConflicting classifications of pathogenicity
PKHD1
(D3139Y)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
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