Related gene-specific medical variations for Gene (Select 1258) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577509	NM_001297.5:c.1536-3071_2634+31dup	CNGB1	Duplication	Retinitis pigmentosa	GLikely pathogenic
Select item 930651	NM_001297.5(CNGB1):c.1741A>G (p.Lys581Glu)	CNGB1 (K581E +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45	GUncertain significance
Select item 930498	NM_001297.5(CNGB1):c.1418A>G (p.Asp473Gly)	CNGB1 (D473G +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45	GUncertain significance
Select item 866901	NM_001297.5(CNGB1):c.2034G>A (p.Trp678Ter)	CNGB1 (W672* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 866552	NM_001297.5(CNGB1):c.2495A>G (p.Tyr832Cys)	CNGB1 (Y826C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic
Select item 866074	NM_001297.5(CNGB1):c.2088C>G (p.Tyr696Ter)	CNGB1 (Y696* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 865777	NM_001297.5(CNGB1):c.1373-1G>A	CNGB1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GPathogenic
Select item 811726	NM_001297.5(CNGB1):c.832G>C (p.Glu278Gln)	CNGB1 (E272Q +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45	GUncertain significance
Select item 686664	GRCh37/hg19 16q21(chr16:57935248-57958159)x1	CNGB1	Copy number loss	not provided	GPathogenic
Select item 143125	NM_001297.5(CNGB1):c.2524dup (p.Thr842fs)	CNGB1 (T836fs +1 more)	Duplication (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic