MYO1F[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 1223157	NM_012335.4(MYO1F):c.*186G>C	MYO1F	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1316637	NM_012335.4(MYO1F):c.*39A>G	MYO1F	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1316350	NM_012335.4(MYO1F):c.*34C>T	MYO1F	Single nucleotide variant (3 prime UTR variant)	not provided	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 758800	NM_012335.4(MYO1F):c.3282C>T (p.Tyr1094=)	MYO1F	Single nucleotide variant (synonymous variant)	not provided	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 1325920	NM_012335.4(MYO1F):c.3221-22C>T	MYO1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231844	NM_012335.4(MYO1F):c.3220+209C>T	MYO1F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224083	NM_012335.4(MYO1F):c.3220+66G>A	MYO1F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293724	NM_012335.4(MYO1F):c.3220+60G>A	MYO1F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316352	NM_012335.4(MYO1F):c.3220+56G>A	MYO1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 668705	NM_012335.4(MYO1F):c.3188A>C (p.Asn1063Thr)	MYO1F (N1063T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 777410	NM_012335.4(MYO1F):c.3132C>A (p.Pro1044=)	MYO1F	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2220118	NM_012335.4(MYO1F):c.3109C>T (p.Pro1037Ser)	MYO1F (P1033S +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 1317848	NM_012335.4(MYO1F):c.3070G>A (p.Val1024Met)	MYO1F (V1020M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 668255	NM_012335.4(MYO1F):c.3065G>A (p.Arg1022His)	MYO1F (R1022H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1316346	NM_012335.4(MYO1F):c.3050+35G>C	MYO1F	Single nucleotide variant (intron variant)	not provided	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 509131	NM_012335.4(MYO1F):c.3015A>G (p.Thr1005=)	MYO1F	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 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 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 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 2283354	NM_012335.4(MYO1F):c.2976C>G (p.Ser992Arg)	MYO1F (S988R +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 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 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 508620	NM_012335.4(MYO1F):c.2860G>T (p.Asp954Tyr)	MYO1F (D954Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1266587	NM_012335.4(MYO1F):c.2855-69A>G	MYO1F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239642	NM_012335.4(MYO1F):c.2855-187T>A	MYO1F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248541	NM_012335.4(MYO1F):c.2855-207del	MYO1F	Deletion (intron variant)	not provided	GBenign
Select item 1256805	NM_012335.4(MYO1F):c.2854+279del	MYO1F	Deletion (intron variant)	not provided	GBenign
Select item 1234858	NM_012335.4(MYO1F):c.2854+193A>C	MYO1F	Single nucleotide variant (intron variant)	not provided	GBenign
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 3031606	NM_012335.4(MYO1F):c.2809A>C (p.Arg937=)	MYO1F	Single nucleotide variant (synonymous variant)	MYO1F-related disorder	GLikely benign
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 2254639	NM_012335.4(MYO1F):c.2771A>G (p.Lys924Arg)	MYO1F (K920R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1291738	NM_012335.4(MYO1F):c.2770+316C>T	MYO1F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290845	NM_012335.4(MYO1F):c.2770+88GA[10]	MYO1F	Microsatellite (intron variant)	not provided	GBenign
Select item 1224562	NM_012335.4(MYO1F):c.2770+88GA[9]	MYO1F	Microsatellite (intron variant)	not provided	GBenign
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 515162	NM_012335.4(MYO1F):c.2745G>A (p.Val915=)	MYO1F	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 2649204	NM_012335.4(MYO1F):c.2718T>C (p.Val906=)	MYO1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 452795	NM_012335.4(MYO1F):c.2672G>C (p.Ser891Thr)	MYO1F (S891T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 3047975	NM_012335.4(MYO1F):c.2622-4A>G	MYO1F	Single nucleotide variant (intron variant)	MYO1F-related disorder	GLikely benign
Select item 1318080	NM_012335.4(MYO1F):c.2622-40dup	MYO1F	Duplication (intron variant)	not provided	GLikely benign
Select item 1248338	NM_012335.4(MYO1F):c.2622-87G>C	MYO1F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2246543	NM_012335.4(MYO1F):c.2558G>A (p.Ser853Asn)	MYO1F (S849N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1315699	NM_012335.4(MYO1F):c.2515_2516delinsAA (p.Ala839Asn)	MYO1F (A835N +1 more)	Indel (missense variant)	not provided	GLikely benign
Select item 707995	NM_012335.4(MYO1F):c.2516C>A (p.Ala839Asp)	MYO1F (A839D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 707996	NM_012335.4(MYO1F):c.2515G>A (p.Ala839Thr)	MYO1F (A835T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1222227	NM_012335.4(MYO1F):c.2508G>C (p.Glu836Asp)	MYO1F (E832D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1249763	NM_012335.4(MYO1F):c.2474+179C>G	MYO1F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316496	NM_012335.4(MYO1F):c.2474+73G>A	MYO1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252096	NM_012335.4(MYO1F):c.2474+15T>C	MYO1F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682303	NM_012335.4(MYO1F):c.2461G>A (p.Gly821Arg)	MYO1F (G817R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2261545	NM_012335.4(MYO1F):c.2393A>G (p.Lys798Arg)	MYO1F (K794R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224301	NM_012335.4(MYO1F):c.2381G>A (p.Arg794Gln)	MYO1F (R794Q +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 2205076	NM_012335.4(MYO1F):c.2339G>A (p.Arg780Gln)	MYO1F (R780Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929026	NM_012335.4(MYO1F):c.2338C>G (p.Arg780Gly)	MYO1F (R776G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1261095	NM_012335.4(MYO1F):c.2328+187G>A	MYO1F	Single nucleotide variant (intron variant)	not provided	GBenign
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 2649205	NM_012335.4(MYO1F):c.2313C>T (p.Tyr771=)	MYO1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 3038154	NM_012335.4(MYO1F):c.2250C>T (p.Pro750=)	MYO1F	Single nucleotide variant (synonymous variant)	MYO1F-related disorder	GLikely benign
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 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 509520	NM_012335.4(MYO1F):c.2159-5C>T	MYO1F	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 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 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 2253980	NM_012335.4(MYO1F):c.2122G>A (p.Val708Met)	MYO1F (V708M +1 more)	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
Select item 2215303	NM_012335.4(MYO1F):c.2062G>A (p.Val688Met)	MYO1F (V684M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1316189	NM_012335.4(MYO1F):c.2044-11C>T	MYO1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317518	NM_012335.4(MYO1F):c.2044-38A>C	MYO1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178179	NM_012335.4(MYO1F):c.2043+201_2043+204del	MYO1F	Deletion (intron variant)	not provided	GBenign
Select item 1235519	NM_012335.4(MYO1F):c.2043+167C>T	MYO1F	Single nucleotide variant (intron variant)	not provided	GBenign

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