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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKHD1
(R3692*)
Single nucleotide variant
(nonsense)
Autosomal recessive polycystic kidney disease
+2 more
GPathogenic/Likely pathogenic
PKHD1
(Q3407*)
Single nucleotide variant
(nonsense)
Autosomal recessive polycystic kidney disease
+2 more
GPathogenic
PKHD1
Single nucleotide variant
(splice acceptor variant)
Polycystic kidney disease 4
+1 more
GPathogenic/Likely pathogenic
PKHD1
(C2422G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PKHD1
(I2331K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
PKHD1, LOC126859690
(R1624W)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
PKHD1
(V1303fs)
Deletion
(frameshift variant)
Autosomal recessive polycystic kidney disease
GPathogenic
PKHD1
(R375W)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+2 more
GPathogenic/Likely pathogenic
PKHD1
(I222V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
PKHD1
(R124*)
Single nucleotide variant
(nonsense)
Autosomal recessive polycystic kidney disease
+4 more
GPathogenic
PKHD1
(T36M)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+8 more
GPathogenic/Likely pathogenic
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