ClinVar for MedGen (Select 1799074) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 807464	NM_024420.3(PLA2G4A):c.494dup (p.Arg166fs)	PLA2G4A (R166fs)	Duplication (frameshift variant +1 more)	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	GPathogenic
Select item 765134	NM_024420.3(PLA2G4A):c.1962T>G (p.Gly654=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 624622	NM_024420.3(PLA2G4A):c.2118+4_2118+7del	PLA2G4A	Deletion (splice donor variant)	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	GPathogenic
Select item 624621	NM_024420.3(PLA2G4A):c.1723G>C (p.Asp575His)	PLA2G4A (D575H +1 more)	Single nucleotide variant (missense variant)	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	GPathogenic
Select item 9080	NM_024420.3(PLA2G4A):c.1454G>A (p.Arg485His)	PLA2G4A (R485H +1 more)	Single nucleotide variant (missense variant)	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	GPathogenic
Select item 9079	NM_024420.3(PLA2G4A):c.331T>C (p.Ser111Pro)	PLA2G4A (S111P)	Single nucleotide variant (missense variant)	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	GPathogenic

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