"P2RY12-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 775916	NM_022788.5(P2RY12):c.989A>G (p.Glu330Gly)	MED12L, P2RY12 (E330G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2753143	NM_022788.5(P2RY12):c.669G>A (p.Thr223=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	P2RY12-related condition +1 more	GLikely benign
Select item 3054015	NM_022788.5(P2RY12):c.561T>A (p.His187Gln)	MED12L, P2RY12 (H187Q)	Single nucleotide variant (missense variant +1 more)	P2RY12-related condition	GLikely pathogenic
Select item 3015312	NM_022788.5(P2RY12):c.501G>A (p.Pro167=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	P2RY12-related condition +1 more	GLikely benign

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