"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "P2RX1"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 786300	NM_002558.4(P2RX1):c.1186A>G (p.Met396Val)	P2RX1 (M396V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 721195	NM_002558.4(P2RX1):c.1135-9C>T	P2RX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787130	NM_002558.4(P2RX1):c.1110C>T (p.Tyr370=)	P2RX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 765060	NM_002558.4(P2RX1):c.748-8C>A	P2RX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 2422206	NC_000017.10:g.(?_3379454)_(3819519_?)del	ASPA, CAMKK1 +11 more	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 1403973	NC_000017.10:g.(?_2541583)_(3819519_?)del	ASPA, CAMKK1 +26 more	Deletion	not provided	GPathogenic

ClinVar