ClinVar for MedGen (Select 481945) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068198	NM_005084.4(PLA2G7):c.777+16T>C	PLA2G7	Single nucleotide variant (intron variant)	Platelet-activating factor acetylhydrolase deficiency	GUncertain significance
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 2431694	NM_005084.4(PLA2G7):c.251A>G (p.Tyr84Cys)	PLA2G7 (Y84C)	Single nucleotide variant (missense variant)	Platelet-activating factor acetylhydrolase deficiency	GUncertain significance
Select item 1028854	NM_005084.4(PLA2G7):c.470+1G>A	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
Select item 488191	NM_005084.4(PLA2G7):c.663+1G>A	PLA2G7	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 225441	NM_005084.4(PLA2G7):c.870-2A>G	PLA2G7	Single nucleotide variant (splice acceptor variant)	Platelet-activating factor acetylhydrolase deficiency	GUncertain significance
Select item 7914	NM_005084.4(PLA2G7):c.835G>T (p.Val279Phe)	PLA2G7 (V279F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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