BEST1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305109	NM_004183.3(BEST1):c.-536T>C	BEST1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant vitreoretinochoroidopathy +2 more	GLikely benign
Select item 305110	NM_004183.3(BEST1):c.-428C>T	BEST1	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GLikely benign
Select item 305111	NM_004183.3(BEST1):c.-373T>A	BEST1	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GLikely benign
Select item 305112	NM_004183.3(BEST1):c.-329C>T	BEST1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 305113	NM_004183.3(BEST1):c.-221T>C	BEST1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant vitreoretinochoroidopathy +3 more	GBenign
Select item 305114	NM_004183.3(BEST1):c.-125G>A	BEST1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant vitreoretinochoroidopathy +2 more	GUncertain significance
Select item 305115	NM_004183.3(BEST1):c.-121C>T	BEST1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant vitreoretinochoroidopathy +2 more	GUncertain significance
Select item 305116	NM_004183.4(BEST1):c.-66G>T	BEST1	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 438184	NM_004183.4(BEST1):c.-37+1G>T	BEST1	Single nucleotide variant (splice donor variant)	Autosomal recessive bestrophinopathy	GLikely pathogenic
Select item 2137109	NM_004183.4(BEST1):c.-37+5G>A	BEST1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1273545	NM_004183.4(BEST1):c.-37+137G>A	BEST1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194339	NM_004183.4(BEST1):c.-37+274G>A	BEST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215192	NM_004183.4(BEST1):c.-37+329T>C	BEST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276627	NM_004183.4(BEST1):c.-36-217G>A	BEST1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257889	NM_004183.4(BEST1):c.-36-173T>C	BEST1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2098714	NM_004183.4(BEST1):c.1A>G (p.Met1Val)	BEST1 (M1V)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 866344	NM_004183.4(BEST1):c.5C>G (p.Thr2Ser)	BEST1 (T2S)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1503600	NM_004183.4(BEST1):c.8T>A (p.Ile3Asn)	BEST1 (I3N)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 870721	NM_004183.4(BEST1):c.11C>T (p.Thr4Ile)	BEST1 (T4I)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2092116	NM_004183.4(BEST1):c.13T>A (p.Tyr5Asn)	BEST1 (Y5N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2732	NM_004183.4(BEST1):c.16A>C (p.Thr6Pro)	BEST1 (T6P)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GPathogenic
Select item 1709319	NM_004183.4(BEST1):c.17C>A (p.Thr6Lys)	BEST1 (T6K)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +1 more	GLikely pathogenic
Select item 99689	NM_004183.4(BEST1):c.17C>G (p.Thr6Arg)	BEST1 (T6R)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 939742	NM_004183.4(BEST1):c.20G>A (p.Ser7Asn)	BEST1 (S7N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1398748	NM_004183.4(BEST1):c.25G>C (p.Val9Leu)	BEST1 (V9L)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2734	NM_004183.4(BEST1):c.25G>A (p.Val9Met)	BEST1 (V9M)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GPathogenic
Select item 438579	NM_004183.4(BEST1):c.26T>G (p.Val9Gly)	BEST1 (V9G)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GLikely pathogenic
Select item 99700	NM_004183.4(BEST1):c.26T>C (p.Val9Ala)	BEST1 (V9A)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
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 99709	NM_004183.4(BEST1):c.29C>T (p.Ala10Val)	BEST1 (A10V)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1492954	NM_004183.4(BEST1):c.32A>G (p.Asn11Ser)	BEST1 (N11S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 99715	NM_004183.4(BEST1):c.32A>T (p.Asn11Ile)	BEST1 (N11I)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 432353	NM_004183.4(BEST1):c.33T>G (p.Asn11Lys)	BEST1 (N11K)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 99716	NM_004183.4(BEST1):c.33T>C (p.Asn11=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2864945	NM_004183.4(BEST1):c.35C>A (p.Ala12Asp)	BEST1 (A12D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1719683	NM_004183.4(BEST1):c.35C>T (p.Ala12Val)	BEST1 (A12V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 865923	NM_004183.4(BEST1):c.35C>G (p.Ala12Gly)	BEST1 (A12G)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +1 more	GUncertain significance
Select item 444253	NM_004183.4(BEST1):c.37C>G (p.Arg13Gly)	BEST1 (R13G)	Single nucleotide variant (missense variant +2 more)	Isolated macular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 279701	NM_004183.4(BEST1):c.37C>T (p.Arg13Cys)	BEST1 (R13C)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 424977	NM_004183.4(BEST1):c.38G>C (p.Arg13Pro)	BEST1 (R13P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 99717	NM_004183.4(BEST1):c.38G>A (p.Arg13His)	BEST1 (R13H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2789311	NM_004183.4(BEST1):c.39C>T (p.Arg13=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2009970	NM_004183.4(BEST1):c.41T>C (p.Leu14Ser)	BEST1 (L14S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 429731	NM_004183.4(BEST1):c.44G>A (p.Gly15Asp)	BEST1 (G15D)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2708784	NM_004183.4(BEST1):c.46T>C (p.Ser16Pro)	BEST1 (S16P)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely pathogenic
Select item 1000927	NM_004183.4(BEST1):c.47C>A (p.Ser16Tyr)	BEST1 (S16Y)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 99723	NM_004183.4(BEST1):c.47C>T (p.Ser16Phe)	BEST1 (S16F)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1475966	NM_004183.4(BEST1):c.50_52del (p.Phe17del)	BEST1 (F17del)	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 967069	NM_004183.4(BEST1):c.49T>A (p.Phe17Ile)	BEST1 (F17I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 870722	NM_004183.4(BEST1):c.50T>A (p.Phe17Tyr)	BEST1 (F17Y)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 99724	NM_004183.4(BEST1):c.50T>G (p.Phe17Cys)	BEST1 (F17C)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 1307457	NM_004183.4(BEST1):c.51C>A (p.Phe17Leu)	BEST1 (F17L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 497257	NM_004183.4(BEST1):c.55C>T (p.Arg19Cys)	BEST1 (R19C)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1487156	NM_004183.4(BEST1):c.56G>A (p.Arg19His)	BEST1 (R19H)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 636000	NM_004183.4(BEST1):c.58C>G (p.Leu20Val)	BEST1 (L20V)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GPathogenic
Select item 2752893	NM_004183.4(BEST1):c.59T>C (p.Leu20Pro)	BEST1 (L20P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1586826	NM_004183.4(BEST1):c.60G>A (p.Leu20=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 99728	NM_004183.4(BEST1):c.61C>G (p.Leu21Val)	BEST1 (L21V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2152113	NM_004183.4(BEST1):c.62T>G (p.Leu21Arg)	BEST1 (L21R)	Single nucleotide variant (intron variant +2 more)	not provided	GPathogenic
Select item 1475465	NM_004183.4(BEST1):c.62T>A (p.Leu21Gln)	BEST1 (L21Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1127113	NM_004183.4(BEST1):c.66G>A (p.Leu22=)	BEST1	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 1647564	NM_004183.4(BEST1):c.69C>T (p.Cys23=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1056587	NM_004183.4(BEST1):c.70T>C (p.Trp24Arg)	BEST1 (W24R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1069894	NM_004183.4(BEST1):c.72G>A (p.Trp24Ter)	BEST1 (W24*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 99750	NM_004183.4(BEST1):c.72G>T (p.Trp24Cys)	BEST1 (W24C)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 99751	NM_004183.4(BEST1):c.73C>T (p.Arg25Trp)	BEST1 (R25W)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +1 more	GPathogenic/Likely pathogenic
Select item 99752	NM_004183.4(BEST1):c.74G>A (p.Arg25Gln)	BEST1 (R25Q)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive bestrophinopathy +1 more	GPathogenic
Select item 1489288	NM_004183.4(BEST1):c.76G>A (p.Gly26Ser)	BEST1 (G26S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 866484	NM_004183.4(BEST1):c.77G>A (p.Gly26Asp)	BEST1 (G26D)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1144262	NM_004183.4(BEST1):c.78C>T (p.Gly26=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1466118	NM_004183.4(BEST1):c.79A>G (p.Ser27Gly)	BEST1 (S27G)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1474399	NM_004183.4(BEST1):c.80G>A (p.Ser27Asn)	BEST1 (S27N)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 99753	NM_004183.4(BEST1):c.81C>G (p.Ser27Arg)	BEST1 (S27R)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 1967965	NM_004183.4(BEST1):c.84C>T (p.Ile28=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2710700	NM_004183.4(BEST1):c.86_89dup (p.Leu31fs)	BEST1 (L31fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 99757	NM_004183.4(BEST1):c.85T>C (p.Tyr29His)	BEST1 (Y29H)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 623293	NM_004183.4(BEST1):c.86A>G (p.Tyr29Cys)	BEST1 (Y29C)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +1 more	GLikely pathogenic
Select item 99759	NM_004183.4(BEST1):c.87C>T (p.Tyr29=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	Gnot provided
Select item 2730	NM_004183.4(BEST1):c.87C>G (p.Tyr29Ter)	BEST1 (Y29*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
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	GConflicting classifications of pathogenicity
Select item 2827057	NM_004183.4(BEST1):c.92T>G (p.Leu31Arg)	BEST1 (L31R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1642771	NM_004183.4(BEST1):c.93G>A (p.Leu31=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 636155	NM_004183.4(BEST1):c.95T>C (p.Leu32Pro)	BEST1 (L32P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely 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)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1667677	NM_004183.4(BEST1):c.99T>C (p.Tyr33=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 418061	NM_004183.4(BEST1):c.102C>T (p.Gly34=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GPathogenic
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 1695423	NM_004183.4(BEST1):c.105G>C (p.Glu35Asp)	BEST1 (E35D)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive bestrophinopathy	GUncertain significance
Select item 1365176	NM_004183.4(BEST1):c.109_110delinsCC (p.Leu37Pro)	BEST1 (L37P)	Indel (missense variant +2 more)	not provided	GUncertain significance
Select item 99678	NM_004183.4(BEST1):c.109T>C (p.Leu37=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant vitreoretinochoroidopathy +7 more	GBenign
Select item 424191	NM_004183.4(BEST1):c.113T>G (p.Ile38Ser)	BEST1 (I38S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1659914	NM_004183.4(BEST1):c.117C>T (p.Phe39=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1451704	NM_004183.4(BEST1):c.119dup (p.Leu41fs)	BEST1 (L41fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2743	NM_004183.4(BEST1):c.122T>C (p.Leu41Pro)	BEST1 (L41P)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2914583	NM_004183.4(BEST1):c.132C>T (p.Tyr44=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1899067	NM_004183.4(BEST1):c.133A>G (p.Ile45Val)	BEST1 (I45V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1554221	NM_004183.4(BEST1):c.135C>T (p.Ile45=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1347697	NM_004183.4(BEST1):c.137T>C (p.Ile46Thr)	BEST1 (I46T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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