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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGA
(R119Q)
Single nucleotide variant
(missense variant +1 more)
Paroxysmal nocturnal hemoglobinuria 1
+3 more
GConflicting classifications of pathogenicity
PIGA
(H33R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity