ClinVar for PMC (Select 8212766) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 997023	NC_000016.10:g.54716967_54716968ins[54716967_55565004;AGCTAACAAGTAATACCTAACAGTTATTCAGC]		Insertion	Autosomal dominant cone dystrophy with early tritanopia +1 more	GPathogenic
Select item 997022	NC_000016.10:g.54801236_55533834dup	IRX6, LOC130059039 +17 more	Duplication	Autosomal dominant cone dystrophy with early tritanopia +1 more	GPathogenic
Select item 997021	NC_000016.10:g.54893325_55501091dup	CRNDE, IRX5 +15 more	Duplication	Autosomal dominant cone dystrophy with early tritanopia +1 more	GPathogenic

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