ClinVar for MedGen (Select 393582) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585022	NM_000611.6(CD59):c.286_295del (p.Phe96fs)	CD59 (F96fs)	Deletion (frameshift variant)	Primary CD59 deficiency	GUncertain significance
Select item 1685256	NM_000611.6(CD59):c.83G>A (p.Cys28Tyr)	CD59 (C28Y)	Single nucleotide variant (missense variant)	Primary CD59 deficiency	GLikely pathogenic
Select item 634643	NM_000611.6(CD59):c.85T>G (p.Tyr29Asp)	CD59 (Y29D)	Single nucleotide variant (missense variant)	Primary CD59 deficiency	GUncertain significance
Select item 522723	NM_000611.6(CD59):c.190T>G (p.Cys64Gly)	CD59 (C64G)	Single nucleotide variant (missense variant)	Primary CD59 deficiency	GUncertain significance
Select item 100766	NM_000611.6(CD59):c.146del (p.Asp49fs)	CD59 (D49fs)	Deletion (frameshift variant)	Primary CD59 deficiency	GPathogenic
Select item 64690	NM_000611.6(CD59):c.266G>A (p.Cys89Tyr)	CD59 (C89Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 18052	NM_000611.6(CD59):c.123del (p.Val42fs)	CD59 (V42fs)	Deletion (frameshift variant)	Primary CD59 deficiency	GPathogenic

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