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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLD1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PLD1
(D623V +1 more)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
+1 more
GUncertain significance