ClinVar for Gene (Select 140469) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297865	NM_138995.5(MYO3B):c.3102T>A (p.Asp1034Glu)	MYO3B (D1034E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297864	NM_138995.5(MYO3B):c.1589A>G (p.Asn530Ser)	MYO3B (N530S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297863	NM_138995.5(MYO3B):c.1492A>G (p.Met498Val)	MYO3B (M498V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297862	NM_138995.5(MYO3B):c.2798C>T (p.Ser933Phe)	MYO3B (S933F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297861	NM_138995.5(MYO3B):c.2708A>T (p.His903Leu)	MYO3B (H903L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297860	NM_138995.5(MYO3B):c.536C>G (p.Ala179Gly)	MYO3B (A179G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297859	NM_138995.5(MYO3B):c.1882A>G (p.Lys628Glu)	MYO3B (K628E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297858	NM_138995.5(MYO3B):c.3670C>T (p.Arg1224Trp)	MYO3B (R1197W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297856	NM_138995.5(MYO3B):c.646C>T (p.Arg216Cys)	MYO3B (R216C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297855	NM_138995.5(MYO3B):c.2807G>A (p.Arg936Gln)	MYO3B (R936Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297854	NM_138995.5(MYO3B):c.3904G>A (p.Asp1302Asn)	LOC100130256, MYO3B (D1302N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297853	NM_138995.5(MYO3B):c.1466C>T (p.Ser489Leu)	MYO3B (S489L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297852	NM_138995.5(MYO3B):c.2044G>A (p.Ala682Thr)	MYO3B (A682T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297851	NM_138995.5(MYO3B):c.3346G>A (p.Glu1116Lys)	MYO3B (E1116K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3297850	NM_138995.5(MYO3B):c.2874A>T (p.Lys958Asn)	MYO3B (K958N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297849	NM_138995.5(MYO3B):c.2314G>A (p.Val772Met)	MYO3B (V772M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164853	NM_138995.5(MYO3B):c.877A>G (p.Ile293Val)	MYO3B (I293V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164837	NM_138995.5(MYO3B):c.755C>T (p.Pro252Leu)	MYO3B (P252L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164822	NM_138995.5(MYO3B):c.559C>T (p.Arg187Trp)	MYO3B (R187W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164813	NM_138995.5(MYO3B):c.463C>T (p.Arg155Cys)	MYO3B (R155C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164782	NM_138995.5(MYO3B):c.3613A>G (p.Ile1205Val)	MYO3B (I1178V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3164780	NM_138995.5(MYO3B):c.3539C>T (p.Thr1180Ile)	MYO3B (T1153I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164773	NM_138995.5(MYO3B):c.3488T>C (p.Val1163Ala)	MYO3B (V1136A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3164755	NM_138995.5(MYO3B):c.3385C>A (p.Gln1129Lys)	MYO3B (Q1102K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164748	NM_138995.5(MYO3B):c.3160A>C (p.Asn1054His)	MYO3B (N1054H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164733	NM_138995.5(MYO3B):c.2939C>T (p.Thr980Ile)	MYO3B (T980I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164718	NM_138995.5(MYO3B):c.281C>T (p.Ala94Val)	MYO3B (A94V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164694	NM_138995.5(MYO3B):c.2516G>A (p.Gly839Glu)	MYO3B (G839E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164682	NM_138995.5(MYO3B):c.2359A>G (p.Lys787Glu)	MYO3B (K787E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164675	NM_138995.5(MYO3B):c.227A>G (p.Gln76Arg)	MYO3B (Q76R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164668	NM_138995.5(MYO3B):c.2227A>T (p.Asn743Tyr)	MYO3B (N743Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164655	NM_138995.5(MYO3B):c.1913A>C (p.Gln638Pro)	MYO3B (Q638P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164650	NM_138995.5(MYO3B):c.1865C>T (p.Ser622Phe)	MYO3B (S622F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164644	NM_138995.5(MYO3B):c.1842C>G (p.Asn614Lys)	MYO3B (N614K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164638	NM_138995.5(MYO3B):c.1784C>T (p.Thr595Met)	MYO3B (T595M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164632	NM_138995.5(MYO3B):c.1745T>G (p.Phe582Cys)	MYO3B (F582C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164621	NM_138995.5(MYO3B):c.1607A>G (p.Tyr536Cys)	MYO3B (Y536C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164615	NM_138995.5(MYO3B):c.1597A>G (p.Ile533Val)	MYO3B (I533V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164601	NM_138995.5(MYO3B):c.1214G>A (p.Arg405His)	MYO3B (R405H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 2651532	NM_138995.5(MYO3B):c.554G>A (p.Arg185His)	MYO3B (R185H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2618427	NM_138995.5(MYO3B):c.1699A>G (p.Arg567Gly)	MYO3B (R567G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615038	NM_138995.5(MYO3B):c.3772C>T (p.Arg1258Cys)	LOC100130256, MYO3B (R1231C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613876	NM_138995.5(MYO3B):c.968C>T (p.Thr323Ile)	MYO3B (T323I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602696	NM_138995.5(MYO3B):c.1027T>A (p.Cys343Ser)	MYO3B (C343S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595110	NM_138995.5(MYO3B):c.2189A>G (p.Gln730Arg)	MYO3B (Q730R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593440	NM_138995.5(MYO3B):c.3642G>A (p.Ser1214=)	MYO3B	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2591839	NM_138995.5(MYO3B):c.394A>G (p.Met132Val)	MYO3B (M132V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2589575	NM_138995.5(MYO3B):c.842G>A (p.Arg281Gln)	MYO3B (R281Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552745	NM_138995.5(MYO3B):c.3965A>G (p.Asn1322Ser)	LOC100130256, MYO3B (N1295S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551862	NM_138995.5(MYO3B):c.2480G>A (p.Gly827Glu)	MYO3B (G827E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551120	NM_138995.5(MYO3B):c.79T>C (p.Trp27Arg)	MYO3B (W27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548549	NM_138995.5(MYO3B):c.2888G>A (p.Arg963Gln)	MYO3B (R963Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524241	NM_138995.5(MYO3B):c.203T>C (p.Ile68Thr)	MYO3B (I68T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522616	NM_138995.5(MYO3B):c.1787A>T (p.Asp596Val)	MYO3B (D596V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521479	NM_138995.5(MYO3B):c.655G>A (p.Val219Ile)	MYO3B (V219I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520375	NM_138995.5(MYO3B):c.285T>A (p.Asp95Glu)	MYO3B (D95E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494193	NM_138995.5(MYO3B):c.283G>C (p.Asp95His)	MYO3B (D95H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490394	NM_138995.5(MYO3B):c.2363C>T (p.Pro788Leu)	MYO3B (P788L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488240	NM_138995.5(MYO3B):c.3415G>A (p.Ala1139Thr)	MYO3B (A1112T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487128	NM_138995.5(MYO3B):c.1198T>C (p.Tyr400His)	MYO3B (Y400H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485036	NM_138995.5(MYO3B):c.439T>A (p.Leu147Met)	MYO3B (L147M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485035	NM_138995.5(MYO3B):c.438T>A (p.His146Gln)	MYO3B (H146Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479130	NM_138995.5(MYO3B):c.614G>A (p.Cys205Tyr)	MYO3B (C205Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478272	NM_138995.5(MYO3B):c.2594G>A (p.Arg865Lys)	MYO3B (R865K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465894	NM_138995.5(MYO3B):c.2314G>C (p.Val772Leu)	MYO3B (V772L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464083	NM_138995.5(MYO3B):c.3037G>A (p.Ala1013Thr)	MYO3B (A1013T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455289	NM_138995.5(MYO3B):c.380G>A (p.Arg127Gln)	MYO3B (R127Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2405879	NM_138995.5(MYO3B):c.2279T>C (p.Met760Thr)	MYO3B (M760T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401880	NM_138995.5(MYO3B):c.2986C>T (p.Arg996Cys)	MYO3B (R996C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397098	NM_138995.5(MYO3B):c.847T>G (p.Ser283Ala)	MYO3B (S283A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394576	NM_138995.5(MYO3B):c.3700G>A (p.Gly1234Arg)	MYO3B (G1234R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389801	NM_138995.5(MYO3B):c.1555T>C (p.Ser519Pro)	MYO3B (S519P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388796	NM_138995.5(MYO3B):c.3776G>A (p.Arg1259Gln)	LOC100130256, MYO3B (R1232Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387970	NM_138995.5(MYO3B):c.311T>A (p.Leu104Gln)	MYO3B (L104Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386973	NM_138995.5(MYO3B):c.3173G>A (p.Arg1058Gln)	MYO3B (R1058Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373313	NM_138995.5(MYO3B):c.2332C>T (p.Arg778Cys)	MYO3B (R778C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372191	NM_138995.5(MYO3B):c.379C>T (p.Arg127Trp)	MYO3B (R127W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361189	NM_138995.5(MYO3B):c.2200T>C (p.Phe734Leu)	MYO3B (F734L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360655	NM_138995.5(MYO3B):c.1009G>A (p.Glu337Lys)	MYO3B (E337K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358161	NM_138995.5(MYO3B):c.1168A>T (p.Ser390Cys)	MYO3B (S390C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354020	NM_138995.5(MYO3B):c.2581G>A (p.Val861Ile)	MYO3B (V861I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337035	NM_138995.5(MYO3B):c.2914A>G (p.Arg972Gly)	MYO3B (R972G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326103	NM_138995.5(MYO3B):c.704C>A (p.Pro235His)	MYO3B (P235H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322319	NM_138995.5(MYO3B):c.2409A>T (p.Gln803His)	MYO3B (Q803H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312547	NM_138995.5(MYO3B):c.2578G>A (p.Val860Met)	MYO3B (V860M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309729	NM_138995.5(MYO3B):c.343A>T (p.Thr115Ser)	MYO3B (T115S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285314	NM_138995.5(MYO3B):c.1441T>C (p.Ser481Pro)	MYO3B (S481P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285313	NM_138995.5(MYO3B):c.1256C>T (p.Ala419Val)	MYO3B (A419V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274902	NM_138995.5(MYO3B):c.3641C>T (p.Ser1214Leu)	MYO3B (S1214L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274537	NM_138995.5(MYO3B):c.1726G>C (p.Glu576Gln)	MYO3B (E576Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270030	NM_138995.5(MYO3B):c.2455T>C (p.Cys819Arg)	MYO3B (C819R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267689	NM_138995.5(MYO3B):c.2965C>T (p.Arg989Cys)	MYO3B (R989C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252151	NM_138995.5(MYO3B):c.3218G>C (p.Gly1073Ala)	MYO3B (G1073A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251783	NM_138995.5(MYO3B):c.973C>T (p.His325Tyr)	MYO3B (H325Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245402	NM_138995.5(MYO3B):c.2749A>G (p.Ile917Val)	MYO3B (I917V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240289	NM_138995.5(MYO3B):c.2575G>A (p.Asp859Asn)	MYO3B (D859N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239735	NM_138995.5(MYO3B):c.2128T>C (p.Cys710Arg)	MYO3B (C710R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237645	NM_138995.5(MYO3B):c.1844T>C (p.Ile615Thr)	MYO3B (I615T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234300	NM_138995.5(MYO3B):c.340G>T (p.Val114Phe)	MYO3B (V114F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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