Related gene-specific medical variations for Gene (Select 54714) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245592	NC_000008.10:g.(?_87616301)_(87666310_?)dup	CNGB3	Duplication	not provided	GLikely pathogenic
Select item 3245590	NC_000008.10:g.(?_87655959)_(87666310_?)dup	CNGB3	Duplication	not provided	GLikely pathogenic
Select item 3245589	NC_000008.10:g.(?_87674402)_(87679381_?)dup	CNGB3	Duplication	not provided	GLikely pathogenic
Select item 3245588	NC_000008.10:g.(?_87679133)_(87680416_?)del	CNGB3	Deletion	not provided	GPathogenic
Select item 3245587	NC_000008.10:g.(?_87588032)_(87683346_?)del	CNGB3	Deletion	not provided	GPathogenic
Select item 3245586	NC_000008.10:g.(?_87588032)_(87623919_?)del	CNGB3	Deletion	not provided	GPathogenic
Select item 3245585	NC_000008.10:g.(?_87638191)_(87641326_?)del	CNGB3	Deletion	not provided	GPathogenic
Select item 2439159	NM_019098.5(CNGB3):c.1131T>G (p.Tyr377Ter)	CNGB3 (Y377*)	Single nucleotide variant (nonsense)	Achromatopsia 3	GLikely pathogenic
Select item 1322099	NM_019098.5(CNGB3):c.442_446delinsGAAAAT (p.Lys148fs)	CNGB3 (K148fs)	Indel (frameshift variant)	Achromatopsia 3	GPathogenic
Select item 991601	NM_019098.5(CNGB3):c.2103+4A>G	CNGB3	Single nucleotide variant (intron variant)	Achromatopsia	GUncertain significance
Select item 636137	NM_019098.4(CNGB3):c.(211+1_212-1)_(338+1_339-1)del	CNGB3	Deletion	Achromatopsia	GLikely pathogenic
Select item 427719	NM_019098.4(CNGB3):c.(1578+1_1579-1)_(*1_?)del	CNGB3	Deletion	Achromatopsia 3	GPathogenic
Select item 427716	NM_019098.4(CNGB3):c.(338+1_339-1)_(*1_?)del	CNGB3	Deletion	Achromatopsia 3	GPathogenic
Select item 427712	NM_019098.4(CNGB3):c.(?_-1)_(129+1_130-1)del	CNGB3	Deletion	Achromatopsia 3	GPathogenic
Select item 375222	NM_019098.4(CNGB3):c.(990+1_991-1)_(1178+1_1179-1)del	CNGB3	Deletion	Retinal dystrophy	GLikely pathogenic
Select item 261091	NM_019098.5(CNGB3):c.853-45T>C	CNGB3	Single nucleotide variant (intron variant)	not specified	GLikely benign