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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKHD1
(R2831G)
Single nucleotide variant
(missense variant)
Hypoplastic aortic arch
+2 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(splice acceptor variant)
Hypoplastic aortic arch
+1 more
GPathogenic
PKHD1
(D1944G)
Single nucleotide variant
(missense variant)
Hypoplastic aortic arch
+1 more
GUncertain significance
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