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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKHD1
(V3960I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
PKHD1
(I3905N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
PKHD1
(R3842L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
PKHD1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PKHD1
(P3780S)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+3 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
PKHD1
(S3505R)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+2 more
GBenign/Likely benign
PKHD1
(Q3407*)
Single nucleotide variant
(nonsense)
Autosomal recessive polycystic kidney disease
+2 more
GPathogenic
PKHD1
(V3193I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PKHD1
(D3139Y)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PKHD1
(A3072V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PKHD1
(S2861G)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+2 more
GConflicting classifications of pathogenicity
PKHD1
(G2782A)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(splice donor variant)
Polycystic kidney disease 4
GPathogenic
PKHD1
Single nucleotide variant
(intron variant)
PKHD1-related disorder
+2 more
GConflicting classifications of pathogenicity
PKHD1
(V2559L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
PKHD1
(G2285E)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+3 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(synonymous variant)
Autosomal recessive polycystic kidney disease
+3 more
GBenign
PKHD1
(S1833L)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+2 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(synonymous variant)
Autosomal recessive polycystic kidney disease
+1 more
GConflicting classifications of pathogenicity
LOC126859690, PKHD1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
LOC126859690, PKHD1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
LOC126859690, PKHD1
(T1615M)
Single nucleotide variant
(missense variant)
PKHD1-related disorder
+3 more
GBenign/Likely benign
PKHD1
Single nucleotide variant
(synonymous variant)
Autosomal recessive polycystic kidney disease
+2 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PKHD1
(Y1136C)
Single nucleotide variant
(missense variant)
Caroli disease
+4 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PKHD1
(N830S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
PKHD1
(R781*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
PKHD1
Single nucleotide variant
(synonymous variant)
PKHD1-related disorder
+2 more
GBenign/Likely benign
PKHD1
(T579M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
PKHD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PKHD1
Duplication
(intron variant)
Polycystic kidney disease 4
+1 more
GBenign
PKHD1
(T36M)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+8 more
GPathogenic/Likely pathogenic
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