ClinVar for MedGen (Select 7471) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9966	NM_002641.4(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer)	PIGA	Insertion (nonsense +1 more)	Paroxysmal nocturnal hemoglobinuria	GPathogenic
Select item 9965	NM_002641.4(PIGA):c.1188+1G>A	PIGA	Single nucleotide variant (splice donor variant)	Paroxysmal nocturnal hemoglobinuria	GPathogenic
Select item 9964	NM_002641.4(PIGA):c.1323_1324del (p.Leu442fs)	PIGA (L208fs +1 more)	Deletion (frameshift variant +1 more)	Paroxysmal nocturnal hemoglobinuria	GPathogenic
Select item 9963	NM_002641.4(PIGA):c.431del (p.Thr144fs)	PIGA (T144fs)	Deletion (frameshift variant +1 more)	Paroxysmal nocturnal hemoglobinuria	GPathogenic
Select item 9962	NM_002641.4(PIGA):c.249_250insGT (p.Thr84fs)	PIGA (T84fs)	Insertion (frameshift variant +2 more)	Paroxysmal nocturnal hemoglobinuria	GPathogenic
Select item 9961	NM_002641.4(PIGA):c.163C>T (p.Gln55Ter)	PIGA (Q55*)	Single nucleotide variant (nonsense +2 more)	Paroxysmal nocturnal hemoglobinuria	GPathogenic
Select item 9960	NM_002641.4(PIGA):c.1115del (p.Pro372fs)	PIGA (P372fs +1 more)	Deletion (frameshift variant +1 more)	Paroxysmal nocturnal hemoglobinuria	GPathogenic
Select item 9959	NM_002641.4(PIGA):c.459_460insA (p.His154fs)	PIGA (H154fs)	Insertion (frameshift variant +1 more)	Paroxysmal nocturnal hemoglobinuria	GPathogenic
Select item 9958	NM_002641.4(PIGA):c.294C>A (p.Tyr98Ter)	PIGA (Y98*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 9957	NM_002641.4(PIGA):c.1188+2del	PIGA	Deletion (splice donor variant)	Paroxysmal nocturnal hemoglobinuria	GPathogenic