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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKHD1
(L3547P)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
GUncertain significance
PKHD1
(C1787F)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+3 more
GConflicting classifications of pathogenicity
PKHD1
(L543P)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
GUncertain significance
PKHD1
(G34R)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
GUncertain significance
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