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

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 780394	NM_001033002.4(RPAIN):c.445A>G (p.Ser149Gly)	RPAIN (S149G)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243138	NC_000017.10:g.(?_5289526)_(5342393_?)del	C1QBP, NUP88 +1 more	Deletion	not provided	GPathogenic
Select item 2427557	NC_000017.10:g.(?_5289526)_(6616652_?)dup	AIPL1, C17orf100 +14 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2423977	NC_000017.10:g.(?_5336335)_(5337107_?)del	C1QBP, RPAIN	Deletion	not provided	GPathogenic

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