"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CYB561D - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2426218	NC_000003.11:g.(?_49866536)_(50540854_?)dup	CACNA2D2, CAMKV +23 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 2425465	NC_000003.11:g.(?_50378802)_(50471880_?)del	CACNA2D2, CYB561D2 +3 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic

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ClinVar