Related gene-specific medical variations for Gene (Select 7941) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065950	NM_005084.4(PLA2G7):c.109+2T>C	PLA2G7	Single nucleotide variant (splice donor variant)	Platelet-activating factor acetylhydrolase deficiency	GLikely pathogenic
Select item 548515	NM_005084.4(PLA2G7):c.680_681dup (p.Glu228fs)	PLA2G7 (E228fs)	Duplication (frameshift variant)	Platelet-activating factor acetylhydrolase deficiency	GUncertain significance