"Blueprint Genetics"[submitter] AND "BEST1"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866344	NM_004183.4(BEST1):c.5C>G (p.Thr2Ser)	BEST1 (T2S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 858577	NM_004183.4(BEST1):c.16A>G (p.Thr6Ala)	BEST1 (T6A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99706	NM_004183.4(BEST1):c.28G>A (p.Ala10Thr)	BEST1 (A10T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 865923	NM_004183.4(BEST1):c.35C>G (p.Ala12Gly)	BEST1 (A12G)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 279701	NM_004183.4(BEST1):c.37C>T (p.Arg13Cys)	BEST1 (R13C)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99717	NM_004183.4(BEST1):c.38G>A (p.Arg13His)	BEST1 (R13H)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866484	NM_004183.4(BEST1):c.77G>A (p.Gly26Asp)	BEST1 (G26D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 99769	NM_004183.4(BEST1):c.89A>G (p.Lys30Arg)	BEST1 (K30R)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866640	NM_004183.4(BEST1):c.97T>G (p.Tyr33Asp)	BEST1 (Y33D)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 866513	NM_004183.4(BEST1):c.97T>C (p.Tyr33His)	BEST1 (Y33H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 865876	NM_004183.4(BEST1):c.169G>T (p.Glu57Ter)	BEST1 (E57*)	Single nucleotide variant (5 prime UTR variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 99695	NM_004183.4(BEST1):c.240C>A (p.Phe80Leu)	BEST1 (F80L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 548451	NM_004183.4(BEST1):c.241G>A (p.Val81Met)	BEST1 (V81M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866671	NM_004183.4(BEST1):c.248-2A>G	BEST1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic
Select item 2728	NM_004183.4(BEST1):c.253T>C (p.Tyr85His)	BEST1 (Y85H +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GPathogenic
Select item 2744	NM_004183.4(BEST1):c.256G>A (p.Val86Met)	BEST1 (V86M +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GPathogenic
Select item 866188	NM_004183.4(BEST1):c.286C>G (p.Gln96Glu)	BEST1 (Q36E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99721	NM_004183.4(BEST1):c.421C>A (p.Arg141Ser)	BEST1 (R141S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2740	NM_004183.4(BEST1):c.422G>A (p.Arg141His)	BEST1 (R141H +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive bestrophinopathy +2 more	GPathogenic/Likely pathogenic
Select item 866479	NM_004183.4(BEST1):c.449G>C (p.Arg150Pro)	BEST1 (R150P +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 865877	NM_004183.4(BEST1):c.530C>T (p.Pro177Leu)	BEST1 (P177L +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 866163	NM_004183.4(BEST1):c.539T>C (p.Met180Thr)	BEST1 (M120T +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 867216	NM_004183.4(BEST1):c.559T>G (p.Trp187Gly)	BEST1 (W187G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 99725	NM_004183.4(BEST1):c.584C>T (p.Ala195Val)	BEST1, FTH1 (A195V +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive bestrophinopathy +5 more	GPathogenic/Likely pathogenic
Select item 99735	NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)	BEST1 (R218C +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive bestrophinopathy +5 more	GPathogenic/Likely pathogenic
Select item 2731	NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn)	BEST1 (Y227N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 2748	NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)	BEST1 (D228N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 99742	NM_004183.4(BEST1):c.693T>G (p.Ser231Arg)	BEST1 (S231R +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 99749	NM_004183.4(BEST1):c.727G>A (p.Ala243Thr)	BEST1 (A243T +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GPathogenic
Select item 2737	NM_004183.4(BEST1):c.728C>T (p.Ala243Val)	BEST1 (A243V +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 865929	NM_004183.4(BEST1):c.815T>C (p.Val272Ala)	BEST1 (V166A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 265047	NM_004183.4(BEST1):c.874G>A (p.Glu292Lys)	BEST1 (E292K +2 more)	Single nucleotide variant (missense variant +4 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99768	NM_004183.4(BEST1):c.898G>A (p.Glu300Lys)	BEST1 (E300K +2 more)	Single nucleotide variant (missense variant +4 more)	not provided +1 more	GPathogenic
Select item 99770	NM_004183.4(BEST1):c.900G>C (p.Glu300Asp)	BEST1 (E300D +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic
Select item 99773	NM_004183.4(BEST1):c.903T>G (p.Asp301Glu)	BEST1 (D301E +3 more)	Single nucleotide variant (missense variant +3 more)	Retinal dystrophy +1 more	GPathogenic
Select item 99782	NM_004183.4(BEST1):c.920C>T (p.Thr307Ile)	BEST1 (T307I +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866930	NM_004183.4(BEST1):c.1062C>G (p.Phe354Leu)	BEST1 (F354L +5 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866911	NM_004183.4(BEST1):c.1100+1_1100+10del	BEST1	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866480	NM_004183.4(BEST1):c.1174C>T (p.Arg392Cys)	BEST1 (R68C +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2739	NM_004183.4(BEST1):c.1470_1471del (p.His490fs)	BEST1 (H166fs +4 more)	Microsatellite (frameshift variant +2 more)	Autosomal recessive bestrophinopathy +2 more	GPathogenic
Select item 866481	NM_004183.4(BEST1):c.1550C>G (p.Ser517Ter)	BEST1 (S411* +4 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 867173	NM_004183.4(BEST1):c.1612G>T (p.Glu538Ter)	BEST1 (E478* +4 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 867040	NM_004183.4(BEST1):c.1740-2A>G	BEST1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 43