"Pangenia Genomics, Pangenia Inc."[submitter] AND "PIGA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2501811	NM_002641.4(PIGA):c.1188+1G>C	PIGA	Single nucleotide variant (splice donor variant)	Paroxysmal nocturnal hemoglobinuria 1	GLikely pathogenic
Select item 2502427	NM_002641.4(PIGA):c.1139del (p.Ile380fs)	PIGA (I146fs +1 more)	Deletion (frameshift variant +1 more)	Paroxysmal nocturnal hemoglobinuria 1	GLikely pathogenic
Select item 2502426	NM_002641.4(PIGA):c.329dup (p.Pro111fs)	PIGA (P111fs)	Duplication (frameshift variant +2 more)	Paroxysmal nocturnal hemoglobinuria 1	GLikely pathogenic
Select item 2502420	NM_002641.4(PIGA):c.196_206del (p.Lys66fs)	PIGA (K66fs)	Deletion (frameshift variant +2 more)	Paroxysmal nocturnal hemoglobinuria 1	GLikely pathogenic
Select item 2502425	NM_002641.4(PIGA):c.151_187del (p.Ser51fs)	PIGA (S51fs)	Deletion (frameshift variant +2 more)	Paroxysmal nocturnal hemoglobinuria 1	GLikely pathogenic
Select item 2502424	NM_002641.4(PIGA):c.167T>C (p.Leu56Pro)	PIGA (L56P)	Single nucleotide variant (missense variant +2 more)	Paroxysmal nocturnal hemoglobinuria 1	GUncertain significance
Select item 2502428	NM_002641.4(PIGA):c.142G>A (p.Gly48Ser)	PIGA (G48S)	Single nucleotide variant (missense variant +2 more)	Paroxysmal nocturnal hemoglobinuria 1	GUncertain significance

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