"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 135

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3249785	NM_004183.4(BEST1):c.17C>T (p.Thr6Ile)	BEST1 (T6I)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 1709319	NM_004183.4(BEST1):c.17C>A (p.Thr6Lys)	BEST1 (T6K)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99689	NM_004183.4(BEST1):c.17C>G (p.Thr6Arg)	BEST1 (T6R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1398748	NM_004183.4(BEST1):c.25G>C (p.Val9Leu)	BEST1 (V9L)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2734	NM_004183.4(BEST1):c.25G>A (p.Val9Met)	BEST1 (V9M)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GPathogenic
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 432353	NM_004183.4(BEST1):c.33T>G (p.Asn11Lys)	BEST1 (N11K)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 279701	NM_004183.4(BEST1):c.37C>T (p.Arg13Cys)	BEST1 (R13C)	Single nucleotide variant (missense variant +2 more)	Macular dystrophy +3 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 429731	NM_004183.4(BEST1):c.44G>A (p.Gly15Asp)	BEST1 (G15D)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 497257	NM_004183.4(BEST1):c.55C>T (p.Arg19Cys)	BEST1 (R19C)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	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)	Autosomal dominant vitreoretinochoroidopathy +1 more	GConflicting classifications of pathogenicity
Select item 2152113	NM_004183.4(BEST1):c.62T>G (p.Leu21Arg)	BEST1 (L21R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1069894	NM_004183.4(BEST1):c.72G>A (p.Trp24Ter)	BEST1 (W24*)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy +1 more	GPathogenic
Select item 99750	NM_004183.4(BEST1):c.72G>T (p.Trp24Cys)	BEST1 (W24C)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GPathogenic
Select item 99751	NM_004183.4(BEST1):c.73C>T (p.Arg25Trp)	BEST1 (R25W)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +2 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 +2 more	GPathogenic/Likely pathogenic
Select item 3249793	NM_004183.4(BEST1):c.80G>C (p.Ser27Thr)	BEST1 (S27T)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 99753	NM_004183.4(BEST1):c.81C>G (p.Ser27Arg)	BEST1 (S27R)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	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	GPathogenic/Likely pathogenic
Select item 3249885	NM_004183.4(BEST1):c.91C>A (p.Leu31Met)	BEST1 (L31M)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 3249490	NM_004183.4(BEST1):c.98A>G (p.Tyr33Cys)	BEST1 (Y33C)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 418061	NM_004183.4(BEST1):c.102C>T (p.Gly34=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 279702	NM_004183.4(BEST1):c.103G>A (p.Glu35Lys)	BEST1 (E35K)	Single nucleotide variant (missense variant +2 more)	BEST1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 3249922	NM_004183.4(BEST1):c.106T>A (p.Phe36Ile)	BEST1 (F36I)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 2743	NM_004183.4(BEST1):c.122T>C (p.Leu41Pro)	BEST1 (L41P)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2738	NM_004183.4(BEST1):c.140G>A (p.Arg47His)	BEST1 (R47H)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 3249750	NM_004183.4(BEST1):c.153-2_158del	BEST1	Deletion (splice acceptor variant)	Retinal dystrophy	GPathogenic
Select item 99687	NM_004183.4(BEST1):c.173A>T (p.Gln58Leu)	BEST1 (Q58L)	Single nucleotide variant (5 prime UTR variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 3249222	NM_004183.4(BEST1):c.194dup (p.Thr66fs)	BEST1 (T66fs +1 more)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3249739	NM_004183.4(BEST1):c.199_200del (p.Leu67fs)	BEST1 (L67fs +1 more)	Microsatellite (frameshift variant +1 more)	Retinal dystrophy +1 more	GPathogenic
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 3249939	NM_004183.4(BEST1):c.203A>G (p.Tyr68Cys)	BEST1 (Y68C +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 99692	NM_004183.4(BEST1):c.217A>C (p.Ile73Leu)	BEST1 (I73L +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 2092209	NM_004183.4(BEST1):c.218T>C (p.Ile73Thr)	BEST1 (I73T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3249778	NM_004183.4(BEST1):c.248-3C>T	BEST1	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 2728	NM_004183.4(BEST1):c.253T>C (p.Tyr85His)	BEST1 (Y85H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +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)	not provided +1 more	GPathogenic
Select item 99702	NM_004183.4(BEST1):c.274C>A (p.Arg92Ser)	BEST1 (R92S +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 987428	NM_004183.4(BEST1):c.277T>C (p.Trp93Arg)	BEST1 (W33R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2070989	NM_004183.4(BEST1):c.279G>T (p.Trp93Cys)	BEST1 (W33C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 438185	NM_004183.4(BEST1):c.287_298del (p.Gln96_Asn99del)	BEST1	Deletion (inframe_deletion +2 more)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 866188	NM_004183.4(BEST1):c.286C>G (p.Gln96Glu)	BEST1 (Q36E +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 635998	NM_004183.4(BEST1):c.287A>G (p.Gln96Arg)	BEST1 (Q96R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 835780	NM_004183.4(BEST1):c.290A>G (p.Tyr97Cys)	BEST1 (Y97C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 99707	NM_004183.4(BEST1):c.297C>A (p.Asn99Lys)	BEST1 (N99K +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GPathogenic
Select item 99708	NM_004183.4(BEST1):c.299T>G (p.Leu100Arg)	BEST1 (L100R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 870723	NM_004183.4(BEST1):c.302C>G (p.Pro101Arg)	BEST1 (P101R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 99711	NM_004183.4(BEST1):c.304T>C (p.Trp102Arg)	BEST1 (W102R +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GPathogenic
Select item 932077	NM_004183.4(BEST1):c.313C>G (p.Arg105Gly)	BEST1 (R45G +1 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +1 more	GConflicting classifications of pathogenicity
Select item 544680	NM_004183.4(BEST1):c.324C>G (p.Ser108Arg)	BEST1 (S108R +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 3249877	NM_004183.4(BEST1):c.346_355dup (p.Glu119fs)	BEST1 (E119fs +2 more)	Duplication (frameshift variant +2 more)	Retinal dystrophy	GPathogenic
Select item 3249721	NM_004183.4(BEST1):c.352G>C (p.Asp118His)	BEST1 (D118H +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 2735	NM_004183.4(BEST1):c.355G>C (p.Glu119Gln)	BEST1 (E119Q +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 427886	NM_004183.4(BEST1):c.400C>G (p.Leu134Val)	BEST1 (L134V +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 3249898	NM_004183.4(BEST1):c.419T>C (p.Leu140Pro)	BEST1 (L140P +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GPathogenic
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 2152114	NM_004183.4(BEST1):c.428T>C (p.Val143Ala)	BEST1 (V143A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 2735628	NM_004183.4(BEST1):c.431G>A (p.Ser144Asn)	BEST1 (S38N +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 3249928	NM_004183.4(BEST1):c.432C>A (p.Ser144Arg)	BEST1 (S144R +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GPathogenic
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 +2 more	GPathogenic/Likely pathogenic
Select item 2963132	NM_004183.4(BEST1):c.524del (p.Ser175fs)	BEST1 (S175fs +2 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 931318	NM_004183.4(BEST1):c.533ACA[1] (p.Asn179del)	BEST1 (N119del +2 more)	Microsatellite (inframe_deletion +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 438484	NM_004183.4(BEST1):c.535A>G (p.Asn179Asp)	BEST1 (N179D +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 99725	NM_004183.4(BEST1):c.584C>T (p.Ala195Val)	BEST1, FTH1 (A195V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 3249893	NM_004183.4(BEST1):c.590_615del (p.Leu197fs)	BEST1 (L137fs +2 more)	Deletion (frameshift variant +2 more)	Retinal dystrophy	GPathogenic
Select item 2741	NM_004183.4(BEST1):c.598C>T (p.Arg200Ter)	BEST1 (R200* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +5 more	GPathogenic
Select item 1925433	NM_004183.4(BEST1):c.599G>A (p.Arg200Gln)	BEST1 (R140Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3249950	NM_004183.4(BEST1):c.602T>G (p.Ile201Ser)	BEST1 (I141S +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 265462	NM_004183.4(BEST1):c.604C>T (p.Arg202Trp)	BEST1 (R202W +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99729	NM_004183.4(BEST1):c.624G>A (p.Gln208=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 99732	NM_004183.4(BEST1):c.637-6C>T	BEST1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 99735	NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)	BEST1 (R218C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 99734	NM_004183.4(BEST1):c.652C>A (p.Arg218Ser)	FTH1, BEST1 (R218S +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 99736	NM_004183.4(BEST1):c.653G>A (p.Arg218His)	BEST1 (R218H +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 422323	NM_004183.4(BEST1):c.658C>T (p.Gln220Ter)	BEST1 (Q220* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 3250315	NM_004183.4(BEST1):c.676G>A (p.Ala226Thr)	BEST1 (A120T +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 3249945	NM_004183.4(BEST1):c.680A>T (p.Tyr227Phe)	BEST1 (Y121F +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 522450	NM_004183.4(BEST1):c.684C>G (p.Asp228Glu)	BEST1 (D228E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
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	GPathogenic/Likely pathogenic
Select item 3249767	NM_004183.4(BEST1):c.695T>A (p.Ile232Asn)	BEST1 (I126N +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 1503934	NM_004183.4(BEST1):c.700C>G (p.Leu234Val)	BEST1 (L128V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 3249082	NM_004183.4(BEST1):c.704T>G (p.Val235Gly)	BEST1 (V129G +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 1457853	NM_004183.4(BEST1):c.709A>T (p.Thr237Ser)	BEST1 (T131S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99746	NM_004183.4(BEST1):c.710C>G (p.Thr237Arg)	BEST1 (T237R +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GPathogenic
Select item 987303	NM_004183.4(BEST1):c.713A>G (p.Gln238Arg)	BEST1 (Q132R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 99748	NM_004183.4(BEST1):c.722C>A (p.Thr241Asn)	BEST1 (T241N +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GPathogenic/Likely 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)	Vitelliform macular dystrophy 2 +4 more	GPathogenic/Likely pathogenic
Select item 817618	NM_004183.4(BEST1):c.779del (p.Pro260fs)	BEST1 (P260fs +2 more)	Deletion (frameshift variant +2 more)	Retinal dystrophy +1 more	GPathogenic
Select item 860652	NM_004183.4(BEST1):c.830C>T (p.Thr277Met)	BEST1 (T171M +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 99756	NM_004183.4(BEST1):c.842TCT[2] (p.Phe283del)	BEST1 (F283del +2 more)	Microsatellite (inframe_deletion +2 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3248768	NM_004183.4(BEST1):c.848T>G (p.Phe283Cys)	BEST1 (F177C +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3249827	NM_004183.4(BEST1):c.853G>A (p.Val285Ile)	BEST1 (V179I +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3249915	NM_004183.4(BEST1):c.867+3G>A	BEST1	Single nucleotide variant (synonymous variant +3 more)	Retinal dystrophy	GUncertain significance
Select item 99758	NM_004183.4(BEST1):c.877C>A (p.Gln293Lys)	BEST1 (Q293K +3 more)	Single nucleotide variant (missense variant +3 more)	Retinal dystrophy +1 more	GPathogenic
Select item 3249716	NM_004183.4(BEST1):c.880C>T (p.Leu294Phe)	BEST1 (L188F +2 more)	Single nucleotide variant (missense variant +4 more)	Retinal dystrophy	GPathogenic
Select item 2733	NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del)	BEST1 (I295del +3 more)	Microsatellite (inframe_deletion +3 more)	Vitelliform macular dystrophy 2 +2 more	GPathogenic/Likely pathogenic
Select item 99762	NM_004183.4(BEST1):c.884T>C (p.Ile295Thr)	BEST1 (I295T +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic
Select item 99764	NM_004183.4(BEST1):c.887A>G (p.Asn296Ser)	BEST1 (N296S +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic

<< First< Prev

Page of 2