ClinVar for Gene (Select 55930) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3165682	NM_018728.4(MYO5C):c.967G>A (p.Val323Ile)	MYO5C (V323I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165676	NM_018728.4(MYO5C):c.95G>A (p.Arg32Lys)	MYO5C (R32K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165674	NM_018728.4(MYO5C):c.841G>A (p.Glu281Lys)	MYO5C (E281K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165671	NM_018728.4(MYO5C):c.767A>C (p.Asn256Thr)	MYO5C (N256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165668	NM_018728.4(MYO5C):c.764G>A (p.Arg255Gln)	MYO5C (R255Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165653	NM_018728.4(MYO5C):c.649C>T (p.Arg217Trp)	MYO5C (R217W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165647	NM_018728.4(MYO5C):c.580G>A (p.Val194Ile)	MYO5C (V194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165639	NM_018728.4(MYO5C):c.53C>T (p.Pro18Leu)	MYO5C (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165623	NM_018728.4(MYO5C):c.4958A>G (p.Glu1653Gly)	CERNA1, MYO5C (E1653G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165610	NM_018728.4(MYO5C):c.4686G>C (p.Met1562Ile)	CERNA1, MYO5C (M1562I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3165608	NM_018728.4(MYO5C):c.4553A>C (p.Glu1518Ala)	CERNA1, MYO5C (E1518A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3165603	NM_018728.4(MYO5C):c.4453T>C (p.Tyr1485His)	MYO5C (Y1485H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165592	NM_018728.4(MYO5C):c.4364T>C (p.Leu1455Pro)	MYO5C (L1455P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165587	NM_018728.4(MYO5C):c.4313T>C (p.Phe1438Ser)	MYO5C (F1438S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165575	NM_018728.4(MYO5C):c.4213C>T (p.Arg1405Cys)	MYO5C (R1405C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165561	NM_018728.4(MYO5C):c.406C>A (p.His136Asn)	MYO5C (H136N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165546	NM_018728.4(MYO5C):c.3755G>A (p.Arg1252His)	MYO5C (R1252H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165543	NM_018728.4(MYO5C):c.3631A>T (p.Ile1211Phe)	MYO5C (I1211F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165514	NM_018728.4(MYO5C):c.2948C>T (p.Thr983Ile)	MYO5C (T983I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165509	NM_018728.4(MYO5C):c.2653A>G (p.Ile885Val)	MYO5C (I885V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165470	NM_018728.4(MYO5C):c.1719G>A (p.Met573Ile)	MYO5C (M573I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165453	NM_018728.4(MYO5C):c.1216T>C (p.Tyr406His)	MYO5C (Y406H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165448	NM_018728.4(MYO5C):c.1069G>T (p.Val357Leu)	MYO5C (V357L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165446	NM_018728.4(MYO5C):c.1040C>T (p.Ser347Leu)	MYO5C (S347L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165443	NM_018728.4(MYO5C):c.1019C>T (p.Ala340Val)	MYO5C (A340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2665011	GRCh38/hg38 15q21.2(chr15:52095744-52533191)	LOC130057077, LOC130057078 +23 more	Copy number loss	not provided	GLikely pathogenic
Select item 2645355	NM_018728.4(MYO5C):c.1008G>A (p.Val336=)	MYO5C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645354	NM_018728.4(MYO5C):c.1031A>G (p.Glu344Gly)	MYO5C (E344G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645353	NM_018728.4(MYO5C):c.2390+3A>G	MYO5C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2645352	NM_018728.4(MYO5C):c.2830G>A (p.Glu944Lys)	MYO5C (E944K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645351	NM_018728.4(MYO5C):c.3922C>A (p.Gln1308Lys)	MYO5C (Q1308K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2618644	NM_018728.4(MYO5C):c.2003A>G (p.Gln668Arg)	MYO5C (Q668R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613953	NM_018728.4(MYO5C):c.656G>C (p.Gly219Ala)	MYO5C (G219A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613877	NM_018728.4(MYO5C):c.3232A>G (p.Ile1078Val)	MYO5C (I1078V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613756	NM_018728.4(MYO5C):c.5188A>G (p.Ile1730Val)	CERNA1, MYO5C (I1730V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612495	NM_018728.4(MYO5C):c.695T>C (p.Ile232Thr)	MYO5C (I232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603116	NM_018728.4(MYO5C):c.1316T>C (p.Phe439Ser)	MYO5C (F439S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590691	NM_018728.4(MYO5C):c.2456G>A (p.Arg819His)	MYO5C (R819H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589209	NM_018728.4(MYO5C):c.3366G>C (p.Arg1122Ser)	MYO5C (R1122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559518	NM_018728.4(MYO5C):c.2464C>G (p.Leu822Val)	MYO5C (L822V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558529	NM_018728.4(MYO5C):c.5161T>C (p.Ser1721Pro)	CERNA1, MYO5C (S1721P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548041	NM_018728.4(MYO5C):c.5068A>C (p.Lys1690Gln)	CERNA1, MYO5C (K1690Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543798	NM_018728.4(MYO5C):c.341T>G (p.Leu114Trp)	MYO5C (L114W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542621	NM_018728.4(MYO5C):c.4273A>G (p.Asn1425Asp)	MYO5C (N1425D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542620	NM_018728.4(MYO5C):c.356A>G (p.Asp119Gly)	MYO5C (D119G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538613	NM_018728.4(MYO5C):c.3526C>G (p.Leu1176Val)	MYO5C (L1176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512543	NM_018728.4(MYO5C):c.182G>A (p.Arg61Gln)	MYO5C (R61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510438	NM_018728.4(MYO5C):c.3989T>C (p.Val1330Ala)	MYO5C (V1330A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494037	NM_018728.4(MYO5C):c.1439T>C (p.Ile480Thr)	MYO5C (I480T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492566	NM_018728.4(MYO5C):c.1709T>A (p.Val570Asp)	MYO5C (V570D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488744	NM_018728.4(MYO5C):c.2099G>C (p.Gly700Ala)	MYO5C (G700A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477344	NM_018728.4(MYO5C):c.355G>A (p.Asp119Asn)	MYO5C (D119N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475825	NM_018728.4(MYO5C):c.4441G>C (p.Asp1481His)	MYO5C (D1481H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460377	NM_018728.4(MYO5C):c.3445C>T (p.Arg1149Cys)	MYO5C (R1149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423931	NC_000015.9:g.(?_50731271)_(54025330_?)dup	AP4E1, ARPP19 +21 more	Duplication	not provided	GUncertain significance
Select item 2423927	NC_000015.9:g.(?_50999997)_(54025330_?)del	AP4E1, ARPP19 +18 more	Deletion	Spastic paraplegia	GPathogenic
Select item 2407126	NM_018728.4(MYO5C):c.562G>A (p.Ala188Thr)	MYO5C (A188T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403279	NM_018728.4(MYO5C):c.4260G>C (p.Met1420Ile)	MYO5C (M1420I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401243	NM_018728.4(MYO5C):c.634A>G (p.Asn212Asp)	MYO5C (N212D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390591	NM_018728.4(MYO5C):c.631C>T (p.Arg211Cys)	MYO5C (R211C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384289	NM_018728.4(MYO5C):c.4719G>T (p.Arg1573Ser)	CERNA1, MYO5C (R1573S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2380591	NM_018728.4(MYO5C):c.2410G>A (p.Ala804Thr)	MYO5C (A804T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378657	NM_018728.4(MYO5C):c.4153C>A (p.Arg1385Ser)	MYO5C (R1385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373457	NM_018728.4(MYO5C):c.3017G>A (p.Arg1006Gln)	MYO5C (R1006Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369457	NM_018728.4(MYO5C):c.1234T>C (p.Phe412Leu)	MYO5C (F412L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365030	NM_018728.4(MYO5C):c.2074T>C (p.Tyr692His)	MYO5C (Y692H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359809	NM_018728.4(MYO5C):c.1231G>A (p.Asp411Asn)	MYO5C (D411N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348755	NM_018728.4(MYO5C):c.3577A>G (p.Ile1193Val)	MYO5C (I1193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336833	NM_018728.4(MYO5C):c.2436A>G (p.Ile812Met)	MYO5C (I812M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320002	NM_018728.4(MYO5C):c.1219G>A (p.Ala407Thr)	MYO5C (A407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316447	NM_018728.4(MYO5C):c.836G>A (p.Ser279Asn)	MYO5C (S279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315967	NM_018728.4(MYO5C):c.4219G>A (p.Ala1407Thr)	MYO5C (A1407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315337	NM_018728.4(MYO5C):c.1149G>C (p.Glu383Asp)	MYO5C (E383D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309730	NM_018728.4(MYO5C):c.4750G>C (p.Gly1584Arg)	CERNA1, MYO5C (G1584R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2304751	NM_018728.4(MYO5C):c.3525T>G (p.His1175Gln)	MYO5C (H1175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302257	NM_018728.4(MYO5C):c.605A>C (p.Glu202Ala)	MYO5C (E202A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299001	NM_018728.4(MYO5C):c.2050C>A (p.Gln684Lys)	MYO5C (Q684K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297397	NM_018728.4(MYO5C):c.3136C>G (p.Leu1046Val)	MYO5C (L1046V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294475	NM_018728.4(MYO5C):c.1925C>A (p.Thr642Lys)	MYO5C (T642K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282210	NM_018728.4(MYO5C):c.541G>A (p.Val181Ile)	MYO5C (V181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280209	NM_018728.4(MYO5C):c.1925C>T (p.Thr642Met)	MYO5C (T642M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276906	NM_018728.4(MYO5C):c.4058C>T (p.Ser1353Leu)	MYO5C (S1353L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2276741	NM_018728.4(MYO5C):c.2532C>A (p.Phe844Leu)	MYO5C (F844L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266974	NM_018728.4(MYO5C):c.5093G>A (p.Arg1698Gln)	CERNA1, MYO5C (R1698Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265761	NM_018728.4(MYO5C):c.2552G>A (p.Arg851Gln)	MYO5C (R851Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262718	NM_018728.4(MYO5C):c.3503C>T (p.Ala1168Val)	MYO5C (A1168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260413	NM_018728.4(MYO5C):c.394G>A (p.Asp132Asn)	MYO5C (D132N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258307	NM_018728.4(MYO5C):c.4541C>T (p.Pro1514Leu)	CERNA1, MYO5C (P1514L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2249075	NM_018728.4(MYO5C):c.4154G>A (p.Arg1385His)	MYO5C (R1385H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244892	NM_018728.4(MYO5C):c.3016C>T (p.Arg1006Trp)	MYO5C (R1006W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244284	NM_018728.4(MYO5C):c.4633G>A (p.Gly1545Ser)	CERNA1, MYO5C (G1545S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2242945	NM_018728.4(MYO5C):c.1113G>C (p.Gln371His)	MYO5C (Q371H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242518	NM_018728.4(MYO5C):c.17T>C (p.Leu6Pro)	LOC130057085, MYO5C (L6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240377	NM_018728.4(MYO5C):c.3284A>G (p.Gln1095Arg)	MYO5C (Q1095R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233082	NM_018728.4(MYO5C):c.3935G>A (p.Arg1312Gln)	MYO5C (R1312Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232755	NM_018728.4(MYO5C):c.3793G>A (p.Glu1265Lys)	MYO5C (E1265K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222018	NM_018728.4(MYO5C):c.4378G>A (p.Gly1460Arg)	MYO5C (G1460R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219976	NM_018728.4(MYO5C):c.2599C>T (p.Arg867Trp)	MYO5C (R867W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205486	NM_018728.4(MYO5C):c.1781C>G (p.Pro594Arg)	MYO5C (P594R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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