ClinVar for Gene (Select 110120574) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 997022	NC_000016.10:g.54801236_55533834dup	CRNDE, IRX5 +17 more	Duplication	Autosomal dominant cone dystrophy with early tritanopia	GPathogenic
Select item 997021	NC_000016.10:g.54893325_55501091dup	CRNDE, IRX5 +15 more	Duplication	Autosomal dominant cone dystrophy with early tritanopia	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LINC02168, LINC02169 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 59490	GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1	AKTIP, CAPNS2 +104 more	Copy number loss	See cases	GPathogenic

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