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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLD1
(I724V +1 more)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
GUncertain significance
PLD1
(R674W +1 more)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
GUncertain significance
PLD1
(R440H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLD1
(T94A)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
GUncertain significance
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