ClinVar for Gene (Select 4542) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297823	NM_012335.4(MYO1F):c.148A>G (p.Ile50Val)	MYO1F (I50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297822	NM_012335.4(MYO1F):c.2140G>C (p.Glu714Gln)	MYO1F (E714Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297819	NM_012335.4(MYO1F):c.35A>T (p.His12Leu)	MYO1F (H12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297818	NM_012335.4(MYO1F):c.916C>T (p.Pro306Ser)	MYO1F (P302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297817	NM_012335.4(MYO1F):c.1871G>A (p.Arg624His)	MYO1F (R620H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297816	NM_012335.4(MYO1F):c.418G>T (p.Val140Phe)	MYO1F (V140F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297815	NM_012335.4(MYO1F):c.2262G>T (p.Gln754His)	MYO1F (Q750H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297814	NM_012335.4(MYO1F):c.2209C>T (p.Arg737Trp)	MYO1F (R733W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297813	NM_012335.4(MYO1F):c.883G>A (p.Ala295Thr)	MYO1F (A291T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297812	NM_012335.4(MYO1F):c.3011A>G (p.Asn1004Ser)	MYO1F (N1000S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297811	NM_012335.4(MYO1F):c.2296G>C (p.Asp766His)	MYO1F (D762H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163938	NM_012335.4(MYO1F):c.986G>A (p.Arg329His)	MYO1F (R325H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163910	NM_012335.4(MYO1F):c.765G>C (p.Glu255Asp)	MYO1F (E255D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163907	NM_012335.4(MYO1F):c.736G>A (p.Gly246Ser)	MYO1F (G246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163899	NM_012335.4(MYO1F):c.508A>C (p.Lys170Gln)	MYO1F (K170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163882	NM_012335.4(MYO1F):c.3190G>A (p.Val1064Met)	MYO1F (V1060M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163861	NM_012335.4(MYO1F):c.2986C>G (p.Arg996Gly)	MYO1F (R996G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163857	NM_012335.4(MYO1F):c.2954C>T (p.Pro985Leu)	MYO1F (P981L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163850	NM_012335.4(MYO1F):c.2849C>G (p.Pro950Arg)	MYO1F (P946R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163847	NM_012335.4(MYO1F):c.2798G>A (p.Gly933Glu)	MYO1F (G933E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163827	NM_012335.4(MYO1F):c.2686C>T (p.Arg896Cys)	MYO1F (R892C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163823	NM_012335.4(MYO1F):c.2629T>A (p.Phe877Ile)	MYO1F (F873I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163818	NM_012335.4(MYO1F):c.2459G>A (p.Arg820Gln)	MYO1F (R816Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163813	NM_012335.4(MYO1F):c.2374A>G (p.Ile792Val)	MYO1F (I788V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163804	NM_012335.4(MYO1F):c.2284G>A (p.Val762Met)	MYO1F (V758M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163800	NM_012335.4(MYO1F):c.2258G>A (p.Arg753His)	MYO1F (R749H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163788	NM_012335.4(MYO1F):c.2251G>A (p.Glu751Lys)	MYO1F (E747K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163783	NM_012335.4(MYO1F):c.2195G>A (p.Arg732His)	MYO1F (R732H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163778	NM_012335.4(MYO1F):c.2132G>A (p.Arg711Gln)	MYO1F (R707Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163769	NM_012335.4(MYO1F):c.2014A>G (p.Thr672Ala)	MYO1F (T668A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163760	NM_012335.4(MYO1F):c.1931G>A (p.Arg644Gln)	MYO1F (R640Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163750	NM_012335.4(MYO1F):c.1858G>A (p.Gly620Ser)	MYO1F (G616S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163745	NM_012335.4(MYO1F):c.1642C>G (p.Leu548Val)	MYO1F (L544V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163741	NM_012335.4(MYO1F):c.1621C>T (p.Arg541Trp)	MYO1F (R537W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163716	NM_012335.4(MYO1F):c.1246G>A (p.Glu416Lys)	MYO1F (E416K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163714	NM_012335.4(MYO1F):c.1216G>A (p.Val406Ile)	MYO1F (V402I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056104	NM_012335.4(MYO1F):c.1929G>A (p.Pro643=)	MYO1F	Single nucleotide variant (synonymous variant)	MYO1F-related disorder	GBenign
Select item 3053601	NM_012335.4(MYO1F):c.201C>T (p.Thr67=)	MYO1F	Single nucleotide variant (synonymous variant)	MYO1F-related disorder	GLikely benign
Select item 3052196	NM_012335.4(MYO1F):c.3228G>A (p.Ser1076=)	MYO1F	Single nucleotide variant (synonymous variant)	MYO1F-related disorder	GLikely benign
Select item 3050463	NM_012335.4(MYO1F):c.4-4C>A	MYO1F	Single nucleotide variant (intron variant)	MYO1F-related disorder	GLikely benign
Select item 3047975	NM_012335.4(MYO1F):c.2622-4A>G	MYO1F	Single nucleotide variant (intron variant)	MYO1F-related disorder	GLikely benign
Select item 3046950	NM_012335.4(MYO1F):c.3050+5G>A	MYO1F	Single nucleotide variant (intron variant)	MYO1F-related disorder	GLikely benign
Select item 3046609	NM_012335.4(MYO1F):c.2123T>A (p.Val708Glu)	MYO1F (V704E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045334	NM_012335.4(MYO1F):c.3080G>A (p.Arg1027Gln)	MYO1F (R1023Q +1 more)	Single nucleotide variant (missense variant)	MYO1F-related disorder	GLikely benign
Select item 3040602	NM_012335.4(MYO1F):c.1269+7G>A	MYO1F	Single nucleotide variant (intron variant)	MYO1F-related disorder	GLikely benign
Select item 3040248	NM_012335.4(MYO1F):c.667C>G (p.Gln223Glu)	MYO1F (Q223E)	Single nucleotide variant (missense variant)	MYO1F-related disorder	GLikely benign
Select item 3040148	NM_012335.4(MYO1F):c.468C>T (p.Asn156=)	MYO1F	Single nucleotide variant (synonymous variant)	MYO1F-related disorder	GLikely benign
Select item 3039168	NM_012335.4(MYO1F):c.942C>T (p.Ser314=)	MYO1F	Single nucleotide variant (synonymous variant)	MYO1F-related disorder	GLikely benign
Select item 3038154	NM_012335.4(MYO1F):c.2250C>T (p.Pro750=)	MYO1F	Single nucleotide variant (synonymous variant)	MYO1F-related disorder	GLikely benign
Select item 3034568	NM_012335.4(MYO1F):c.1494C>T (p.Ala498=)	MYO1F	Single nucleotide variant (synonymous variant)	MYO1F-related disorder	GLikely benign
Select item 3031606	NM_012335.4(MYO1F):c.2809A>C (p.Arg937=)	MYO1F	Single nucleotide variant (synonymous variant)	MYO1F-related disorder	GLikely benign
Select item 3029917	NM_012335.4(MYO1F):c.579G>A (p.Glu193=)	MYO1F	Single nucleotide variant (synonymous variant)	MYO1F-related disorder	GLikely benign
Select item 2649211	NM_012335.4(MYO1F):c.-4C>A	MYO1F	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2649210	NM_012335.4(MYO1F):c.252G>A (p.Pro84=)	MYO1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649209	NM_012335.4(MYO1F):c.469G>A (p.Ala157Thr)	MYO1F (A157T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649208	NM_012335.4(MYO1F):c.489C>T (p.Asn163=)	MYO1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649207	NM_012335.4(MYO1F):c.798G>A (p.Pro266=)	MYO1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649206	NM_012335.4(MYO1F):c.825G>A (p.Gln275=)	MYO1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649205	NM_012335.4(MYO1F):c.2313C>T (p.Tyr771=)	MYO1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649204	NM_012335.4(MYO1F):c.2718T>C (p.Val906=)	MYO1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621924	NM_012335.4(MYO1F):c.2140G>A (p.Glu714Lys)	MYO1F (E710K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618568	NM_012335.4(MYO1F):c.1586T>C (p.Ile529Thr)	MYO1F (I529T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616065	NM_012335.4(MYO1F):c.2984C>T (p.Pro995Leu)	MYO1F (P991L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589173	NM_012335.4(MYO1F):c.1111C>T (p.Arg371Cys)	MYO1F (R367C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569077	NM_012335.4(MYO1F):c.2992C>T (p.Arg998Cys)	MYO1F (R994C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568880	NM_012335.4(MYO1F):c.1945G>A (p.Glu649Lys)	MYO1F (E649K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2533222	NM_012335.4(MYO1F):c.2743G>T (p.Val915Leu)	MYO1F (V911L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522544	NM_012335.4(MYO1F):c.2944C>G (p.Arg982Gly)	MYO1F (R978G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518741	NM_012335.4(MYO1F):c.278T>C (p.Met93Thr)	MYO1F (M93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517881	NM_012335.4(MYO1F):c.2945G>A (p.Arg982Gln)	MYO1F (R978Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515565	NM_012335.4(MYO1F):c.1079G>A (p.Arg360His)	MYO1F (R356H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513384	NM_012335.4(MYO1F):c.919G>A (p.Ala307Thr)	MYO1F (A303T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493940	NM_012335.4(MYO1F):c.784G>C (p.Val262Leu)	MYO1F (V258L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487993	NM_012335.4(MYO1F):c.2749G>T (p.Asp917Tyr)	MYO1F (D913Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482631	NM_012335.4(MYO1F):c.901G>A (p.Asp301Asn)	MYO1F (D297N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473447	NM_012335.4(MYO1F):c.1412C>T (p.Thr471Met)	MYO1F (T471M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465520	NM_012335.4(MYO1F):c.214G>A (p.Asp72Asn)	MYO1F (D72N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462993	NM_012335.4(MYO1F):c.797C>T (p.Pro266Leu)	MYO1F (P262L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458071	NM_012335.4(MYO1F):c.2257C>T (p.Arg753Cys)	MYO1F (R753C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 2407241	NM_012335.4(MYO1F):c.1973G>A (p.Arg658Gln)	MYO1F (R654Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405422	NM_012335.4(MYO1F):c.1937G>A (p.Arg646His)	MYO1F (R642H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404716	NM_012335.4(MYO1F):c.3175G>A (p.Glu1059Lys)	MYO1F (E1055K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403731	NM_012335.4(MYO1F):c.2993G>A (p.Arg998His)	MYO1F (R994H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385440	NM_012335.4(MYO1F):c.2317C>T (p.Arg773Cys)	MYO1F (R769C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383191	NM_012335.4(MYO1F):c.1588G>A (p.Glu530Lys)	MYO1F (E526K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376773	NM_012335.4(MYO1F):c.3128G>C (p.Gly1043Ala)	MYO1F (G1043A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375201	NM_012335.4(MYO1F):c.403G>C (p.Glu135Gln)	MYO1F (E135Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352312	NM_012335.4(MYO1F):c.3140G>A (p.Arg1047Gln)	MYO1F (R1043Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344685	NM_012335.4(MYO1F):c.2741G>A (p.Ser914Asn)	MYO1F (S910N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334375	NM_012335.4(MYO1F):c.935T>C (p.Ile312Thr)	MYO1F (I308T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332383	NM_012335.4(MYO1F):c.1928C>T (p.Pro643Leu)	MYO1F (P643L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330637	NM_012335.4(MYO1F):c.2300C>G (p.Ser767Trp)	MYO1F (S767W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320955	NM_012335.4(MYO1F):c.731T>C (p.Val244Ala)	MYO1F (V244A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320141	NM_012335.4(MYO1F):c.3069C>A (p.Ser1023Arg)	MYO1F (S1023R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298569	NM_012335.4(MYO1F):c.899T>C (p.Val300Ala)	MYO1F (V296A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2295450	NM_012335.4(MYO1F):c.3292A>C (p.Ile1098Leu)	MYO1F (I1098L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291481	NM_012335.4(MYO1F):c.773G>A (p.Ser258Asn)	MYO1F (S258N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2286593	NM_012335.4(MYO1F):c.371T>C (p.Met124Thr)	MYO1F (M124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285017	NM_012335.4(MYO1F):c.2090C>T (p.Ala697Val)	MYO1F (A693V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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