ClinVar for Gene (Select 7439) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280128	NM_002032.3(FTH1):c.334A>C (p.Asn112His)	BEST1, FTH1 (N112H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3260804	NM_004183.4(BEST1):c.857G>T (p.Gly286Val)	BEST1 (G286V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3260803	NM_004183.4(BEST1):c.459C>A (p.Ser153Arg)	BEST1 (S93R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3256722	NM_004183.4(BEST1):c.764G>A (p.Arg255Gln)	BEST1 (R149Q +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive bestrophinopathy	Gnot provided
Select item 3256721	NM_004183.4(BEST1):c.235dup (p.Ser79fs)	BEST1 (S19fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive bestrophinopathy	Gnot provided
Select item 3256720	NM_004183.4(BEST1):c.88A>G (p.Lys30Glu)	BEST1 (K30E)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	Gnot provided
Select item 3237336	NM_004183.4(BEST1):c.1101-491A>G	BEST1, FTH1	Single nucleotide variant (intron variant)	Autosomal recessive bestrophinopathy	GLikely pathogenic
Select item 3236809	NM_004183.4(BEST1):c.200T>C (p.Leu67Pro)	BEST1 (L67P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3234794	NM_004183.4(BEST1):c.236C>A (p.Ser79Tyr)	BEST1 (S19Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3133727	NM_004183.4(BEST1):c.940A>C (p.Asn314His)	BEST1 (N254H +2 more)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases	GUncertain significance
Select item 3133726	NM_004183.4(BEST1):c.847T>G (p.Phe283Val)	BEST1 (F283V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3133725	NM_004183.4(BEST1):c.846C>A (p.Phe282Leu)	BEST1 (F176L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3133723	NM_004183.4(BEST1):c.1006A>G (p.Met336Val)	BEST1 (M249V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely 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 3056420	NM_004183.4(BEST1):c.1739+37C>T	BEST1	Single nucleotide variant (synonymous variant +2 more)	BEST1-related disorder	GBenign
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 3046577	NM_002032.3(FTH1):c.*5C>T	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant)	FTH1-related disorder	GLikely benign
Select item 3041762	NM_004183.4(BEST1):c.153-22CCACCC[4]	BEST1	Microsatellite (splice acceptor variant)	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 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 3028222	NM_004183.4(BEST1):c.1739+190G>A	BEST1	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy	GLikely benign
Select item 3028220	NM_004183.4(BEST1):c.1739+120T>C	BEST1 (L296P +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely benign
Select item 3028219	NM_004183.4(BEST1):c.1739+82C>G	BEST1	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028218	NM_004183.4(BEST1):c.1592A>C (p.Gln531Pro)	BEST1 (Q207P +4 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028217	NM_004183.4(BEST1):c.1516_1518dup (p.Ser507_Gly508insSer)	BEST1	Duplication (inframe_insertion +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028216	NM_004183.4(BEST1):c.1461A>G (p.Ser487=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028215	NM_004183.4(BEST1):c.1382G>A (p.Arg461Lys)	BEST1 (R355K +4 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028214	NM_004183.4(BEST1):c.936_940dup (p.Asn314fs)	BEST1 (I382fs +3 more)	Duplication (frameshift variant +3 more)	Retinal dystrophy	GPathogenic
Select item 3028213	NM_004183.4(BEST1):c.665G>A (p.Gly222Glu)	BEST1 (G116E +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028212	NM_004183.4(BEST1):c.249C>A (p.Gly83=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3014253	NM_004183.4(BEST1):c.681C>T (p.Tyr227=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3008084	NM_002032.3(FTH1):c.129C>T (p.Asp43=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007895	NM_004183.4(BEST1):c.454C>T (p.Pro152Ser)	BEST1 (P46S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2988101	NM_004183.4(BEST1):c.1704dup (p.Asp569fs)	BEST1 (D463fs +4 more)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2986593	NM_004183.4(BEST1):c.247+10C>A	BEST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984962	NM_004183.4(BEST1):c.1526C>A (p.Ala509Asp)	BEST1 (A509D +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2983640	NM_004183.4(BEST1):c.1739+19C>A	BEST1 (N480K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2982299	NM_004183.4(BEST1):c.287A>T (p.Gln96Leu)	BEST1 (Q36L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2974516	NM_004183.4(BEST1):c.1625C>T (p.Thr542Met)	BEST1 (T455M +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2963132	NM_004183.4(BEST1):c.524del (p.Ser175fs)	BEST1 (S175fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2956365	NM_004183.4(BEST1):c.970G>T (p.Glu324Ter)	BEST1 (E264* +4 more)	Single nucleotide variant (nonsense +3 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 2901151	NM_004183.4(BEST1):c.1373T>G (p.Leu458Arg)	BEST1 (L134R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2899232	NM_004183.4(BEST1):c.1561G>A (p.Gly521Arg)	BEST1 (G434R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2895104	NM_002032.3(FTH1):c.239G>A (p.Arg80Gln)	BEST1, FTH1 (R80Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2883688	NM_002032.3(FTH1):c.330T>C (p.Asn110=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2877367	NM_004183.4(BEST1):c.1740-1G>A	BEST1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2875866	NM_004183.4(BEST1):c.467A>G (p.His156Arg)	BEST1 (H50R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2875785	NM_004183.4(BEST1):c.948+16G>A	BEST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872871	NM_004183.4(BEST1):c.1657A>C (p.Lys553Gln)	BEST1 (K466Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2872045	NM_002032.3(FTH1):c.209T>C (p.Leu70Pro)	BEST1, FTH1 (L70P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869024	NM_004183.4(BEST1):c.248-17C>T	BEST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865990	NM_004183.4(BEST1):c.1483A>G (p.Ile495Val)	BEST1 (I435V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2847585	NM_004183.4(BEST1):c.1739+14del	BEST1	Deletion (nonsense +2 more)	not provided	GLikely benign
Select item 2846391	NM_004183.4(BEST1):c.655A>C (p.Thr219Pro)	BEST1 (T113P +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2845717	NM_004183.4(BEST1):c.1740-1G>C	BEST1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2833850	NM_002032.3(FTH1):c.445T>G (p.Leu149Val)	BEST1, FTH1 (L149V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2833652	NM_004183.4(BEST1):c.868-9G>A	BEST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827497	NM_004183.4(BEST1):c.1101-14C>A	BEST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2821138	NM_004183.4(BEST1):c.1660G>C (p.Glu554Gln)	BEST1 (E230Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2820519	NM_004183.4(BEST1):c.1012T>A (p.Trp338Arg)	BEST1 (W251R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2808693	NM_004183.4(BEST1):c.1746A>C (p.Glu582Asp)	BEST1 (E495D +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2806514	NM_004183.4(BEST1):c.355G>A (p.Glu119Lys)	BEST1 (E59K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2801255	NM_004183.4(BEST1):c.297C>T (p.Asn99=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2801103	NM_004183.4(BEST1):c.1631T>C (p.Met544Thr)	BEST1 (M438T +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2800660	NM_004183.4(BEST1):c.1501_1508del (p.Ser501fs)	BEST1 (S414fs +4 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2797847	NM_004183.4(BEST1):c.1740-18_1740-17del	BEST1	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2796258	NM_004183.4(BEST1):c.1612G>C (p.Glu538Gln)	BEST1 (E214Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2795576	NM_004183.4(BEST1):c.474G>C (p.Val158=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2794778	NM_004183.4(BEST1):c.146T>C (p.Ile49Thr)	BEST1 (I49T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2794014	NM_004183.4(BEST1):c.1095C>T (p.Asn365=)	BEST1 (T433I)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2780509	NM_004183.4(BEST1):c.686G>T (p.Trp229Leu)	BEST1 (W229L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2779503	NM_004183.4(BEST1):c.482-8C>G	BEST1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2766973	NM_004183.4(BEST1):c.1527C>T (p.Ala509=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2754369	NM_004183.4(BEST1):c.758T>C (p.Val253Ala)	BEST1 (V193A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2745386	NM_004183.4(BEST1):c.388C>T (p.Arg130Cys)	BEST1 (R24C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2738042	NM_004183.4(BEST1):c.588G>T (p.Trp196Cys)	BEST1 (W90C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2737510	NM_004183.4(BEST1):c.396del (p.Asn133fs)	BEST1 (N27fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2735635	NM_004183.4(BEST1):c.895G>A (p.Gly299Arg)	BEST1 (G193R +2 more)	Single nucleotide variant (missense variant +4 more)	not provided	GPathogenic
Select item 2735632	NM_004183.4(BEST1):c.689T>C (p.Ile230Thr)	BEST1 (I170T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2735628	NM_004183.4(BEST1):c.431G>A (p.Ser144Asn)	BEST1 (S38N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2735626	NM_004183.4(BEST1):c.295A>T (p.Asn99Tyr)	BEST1 (N99Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2735625	NM_004183.4(BEST1):c.295A>G (p.Asn99Asp)	BEST1 (N99D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 2726870	NM_004183.4(BEST1):c.1102C>T (p.Leu368=)	BEST1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2723880	NM_002032.3(FTH1):c.456C>T (p.His152=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2723354	NM_004183.4(BEST1):c.1358T>C (p.Phe453Ser)	BEST1 (F393S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2722312	NM_004183.4(BEST1):c.1555A>C (p.Ser519Arg)	BEST1 (S195R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2714017	NM_004183.4(BEST1):c.1365T>A (p.Ser455=)	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 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 2701196	NM_004183.4(BEST1):c.360A>G (p.Gln120=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2696330	NM_002032.3(FTH1):c.525C>T (p.Thr175=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	FTH1-related disorder +1 more	GBenign
Select item 2685999	NM_002032.3(FTH1):c.512_513del (p.Leu170_Phe171insTer)	BEST1, FTH1	Deletion (nonsense +1 more)	Neurodegeneration with brain iron accumulation 9	GPathogenic
Select item 2685998	NM_002032.3(FTH1):c.487_490dup (p.Ser164Ter)	BEST1, FTH1 (S164*)	Duplication (nonsense +1 more)	Neurodegeneration with brain iron accumulation 9	GPathogenic

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