CN239200[trait identifier] AND "PreventionGenetics, part of Exact Scie - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 279702	NM_004183.4(BEST1):c.103G>A (p.Glu35Lys)	BEST1 (E35K)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive bestrophinopathy +2 more	GPathogenic/Likely pathogenic
Select item 3041762	NM_004183.4(BEST1):c.153-22CCACCC[4]	BEST1	Microsatellite (splice acceptor variant)	BEST1-related disorder	GBenign
Select item 738245	NM_004183.4(BEST1):c.159C>A (p.Ala53=)	BEST1	Single nucleotide variant (5 prime UTR variant +2 more)	BEST1-related disorder +1 more	GLikely benign
Select item 99695	NM_004183.4(BEST1):c.240C>A (p.Phe80Leu)	BEST1 (F80L +1 more)	Single nucleotide variant (missense variant +1 more)	BEST1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 3059328	NM_004183.4(BEST1):c.248-10T>A	BEST1	Single nucleotide variant (intron variant)	BEST1-related disorder	GLikely benign
Select item 2632074	NM_004183.4(BEST1):c.335G>C (p.Gly112Ala)	BEST1 (G112A +2 more)	Single nucleotide variant (missense variant +2 more)	BEST1-related disorder	GUncertain significance
Select item 962776	NM_004183.4(BEST1):c.388C>A (p.Arg130Ser)	BEST1 (R24S +2 more)	Single nucleotide variant (missense variant +2 more)	BEST1-related disorder +2 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)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 3030091	NM_004183.4(BEST1):c.675T>C (p.Tyr225=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	BEST1-related disorder	GLikely benign
Select item 1921949	NM_004183.4(BEST1):c.715-18TCC[10]	BEST1	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 1148797	NM_004183.4(BEST1):c.715-18TCC[9]	BEST1	Microsatellite (intron variant)	BEST1-related disorder +1 more	GLikely benign
Select item 851138	NM_004183.4(BEST1):c.821C>G (p.Pro274Arg)	BEST1 (P168R +2 more)	Single nucleotide variant (missense variant +2 more)	BEST1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1457855	NM_004183.4(BEST1):c.860G>A (p.Trp287Ter)	BEST1 (W227* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 3050505	NM_004183.4(BEST1):c.867+131G>A	BEST1 (R333H)	Single nucleotide variant (missense variant +3 more)	BEST1-related disorder	GBenign
Select item 3037061	NM_004183.4(BEST1):c.971_975del (p.Glu324fs)	BEST1 (E218fs +5 more)	Deletion (frameshift variant +2 more)	BEST1-related disorder	GPathogenic
Select item 940070	NM_004183.4(BEST1):c.992G>A (p.Arg331Gln)	BEST1 (R225Q +5 more)	Single nucleotide variant (missense variant +1 more)	BEST1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 305126	NM_004183.4(BEST1):c.1143C>T (p.Asp381=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa +6 more	GConflicting classifications of pathogenicity
Select item 1592764	NM_004183.4(BEST1):c.1169T>C (p.Ile390Thr)	BEST1 (I284T +4 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 305130	NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro)	BEST1, FTH1 (S507P +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 736218	NM_004183.4(BEST1):c.1571T>C (p.Met524Thr)	BEST1 (M437T +4 more)	Single nucleotide variant (missense variant +2 more)	BEST1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3056420	NM_004183.4(BEST1):c.1739+37C>T	BEST1	Single nucleotide variant (synonymous variant +2 more)	BEST1-related disorder	GBenign
Select item 2636160	NM_004183.4(BEST1):c.1739+129G>A	BEST1 (R299H +2 more)	Single nucleotide variant (missense variant +2 more)	BEST1-related disorder	GUncertain significance
Select item 100562	NM_004183.4(BEST1):c.1739+189C>T	BEST1 (S583L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign

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Items: 23