ClinVar for Gene (Select 91807) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297644	NM_182493.3(MYLK3):c.815A>G (p.Asn272Ser)	MYLK3 (N272S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3243676	NC_000016.9:g.(?_46694384)_(46764630_?)dup	MYLK3, ORC6 +1 more	Duplication	not provided	GUncertain significance
Select item 3243675	NC_000016.9:g.(?_46694384)_(46743603_?)dup	MYLK3, ORC6 +1 more	Duplication	not provided	GUncertain significance
Select item 3160211	NM_182493.3(MYLK3):c.708C>A (p.Phe236Leu)	MYLK3 (F236L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160208	NM_182493.3(MYLK3):c.645C>A (p.Asp215Glu)	MYLK3 (D215E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160190	NM_182493.3(MYLK3):c.364G>C (p.Asp122His)	MYLK3 (D122H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160099	NM_182493.3(MYLK3):c.2182A>T (p.Ser728Cys)	MYLK3 (S387C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160007	NM_182493.3(MYLK3):c.1649G>A (p.Ser550Asn)	MYLK3 (S209N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065207	NM_182493.3(MYLK3):c.1320del (p.Ala442fs)	MYLK3 (A101fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3021564	NM_182493.3(MYLK3):c.1381G>T (p.Asp461Tyr)	MYLK3 (D461Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017802	NM_182493.3(MYLK3):c.2110A>G (p.Met704Val)	MYLK3 (M363V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016232	NM_182493.3(MYLK3):c.1696C>T (p.Gln566Ter)	MYLK3 (Q566* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3014218	NM_182493.3(MYLK3):c.1518G>A (p.Glu506=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013220	NM_182493.3(MYLK3):c.1061G>A (p.Gly354Asp)	MYLK3 (G13D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3012639	NM_182493.3(MYLK3):c.1749C>T (p.His583=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011380	NM_182493.3(MYLK3):c.1329G>A (p.Leu443=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010861	NM_182493.3(MYLK3):c.1568+1G>T	MYLK3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3010846	NM_182493.3(MYLK3):c.251T>C (p.Ile84Thr)	MYLK3 (I84T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3010287	NM_182493.3(MYLK3):c.1662+19C>T	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010054	NM_182493.3(MYLK3):c.648C>A (p.Pro216=)	MYLK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010036	NM_182493.3(MYLK3):c.84G>A (p.Lys28=)	MYLK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009804	NM_182493.3(MYLK3):c.170T>C (p.Met57Thr)	MYLK3 (M57T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3009344	NM_182493.3(MYLK3):c.1867G>T (p.Gly623Cys)	MYLK3 (G623C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008585	NM_182493.3(MYLK3):c.1981A>G (p.Arg661Gly)	MYLK3 (R320G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008517	NM_182493.3(MYLK3):c.1569-15G>A	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008129	NM_182493.3(MYLK3):c.1462+20G>C	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006164	NM_182493.3(MYLK3):c.1662+16G>C	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005968	NM_182493.3(MYLK3):c.2401-11C>T	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005592	NM_182493.3(MYLK3):c.1986-15T>G	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004631	NM_182493.3(MYLK3):c.2268-10G>C	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003241	NM_182493.3(MYLK3):c.371C>A (p.Ala124Asp)	MYLK3 (A124D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3002273	NM_182493.3(MYLK3):c.812T>C (p.Val271Ala)	MYLK3 (V271A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001618	NM_182493.3(MYLK3):c.2333C>G (p.Ser778Ter)	MYLK3 (S778* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3000192	NM_182493.3(MYLK3):c.2377T>C (p.Tyr793His)	MYLK3 (Y793H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000061	NM_182493.3(MYLK3):c.1570G>A (p.Gly524Ser)	MYLK3 (G183S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999128	NM_182493.3(MYLK3):c.2401-13T>C	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998665	NM_182493.3(MYLK3):c.2094G>A (p.Val698=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997894	NM_182493.3(MYLK3):c.413C>A (p.Ala138Glu)	MYLK3 (A138E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997698	NM_182493.3(MYLK3):c.1533G>T (p.Ala511=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996902	NM_182493.3(MYLK3):c.863del (p.Ala288fs)	MYLK3 (A288fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2995043	NM_182493.3(MYLK3):c.796C>T (p.Pro266Ser)	MYLK3 (P266S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2991085	NM_182493.3(MYLK3):c.647C>T (p.Pro216Leu)	MYLK3 (P216L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2991022	NM_182493.3(MYLK3):c.1165C>A (p.Pro389Thr)	MYLK3 (P389T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989936	NM_182493.3(MYLK3):c.1686C>T (p.Asn562=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989805	NM_182493.3(MYLK3):c.434G>T (p.Arg145Leu)	MYLK3 (R145L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2988426	NM_182493.3(MYLK3):c.1249G>T (p.Glu417Ter)	MYLK3 (E417* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2988205	NM_182493.3(MYLK3):c.626C>A (p.Ala209Glu)	MYLK3 (A209E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2987281	NM_182493.3(MYLK3):c.2404C>T (p.His802Tyr)	MYLK3 (H461Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986492	NM_182493.3(MYLK3):c.1338G>T (p.Gln446His)	MYLK3 (Q105H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986346	NM_182493.3(MYLK3):c.1231G>A (p.Gly411Arg)	MYLK3 (G70R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985015	NM_182493.3(MYLK3):c.175C>T (p.His59Tyr)	MYLK3 (H59Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983006	NM_182493.3(MYLK3):c.2400+1G>A	MYLK3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2982436	NM_182493.3(MYLK3):c.1707C>T (p.His569=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981149	NM_182493.3(MYLK3):c.1758C>G (p.Thr586=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980631	NM_182493.3(MYLK3):c.743C>A (p.Ala248Asp)	MYLK3 (A248D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2980522	NM_182493.3(MYLK3):c.1319T>G (p.Val440Gly)	MYLK3 (V99G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979364	NM_182493.3(MYLK3):c.1164G>A (p.Glu388=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977336	NM_182493.3(MYLK3):c.393G>A (p.Thr131=)	MYLK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975793	NM_182493.3(MYLK3):c.1434A>C (p.Pro478=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975134	NM_182493.3(MYLK3):c.74T>C (p.Met25Thr)	MYLK3 (M25T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2975026	NM_182493.3(MYLK3):c.1296G>C (p.Arg432Ser)	MYLK3 (R91S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972300	NM_182493.3(MYLK3):c.1315G>A (p.Glu439Lys)	MYLK3 (E98K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970544	NM_182493.3(MYLK3):c.1167C>T (p.Pro389=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970496	NM_182493.3(MYLK3):c.1112G>T (p.Gly371Val)	MYLK3 (G30V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969660	NM_182493.3(MYLK3):c.663C>G (p.Val221=)	MYLK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968598	NM_182493.3(MYLK3):c.1093C>G (p.Pro365Ala)	MYLK3 (P365A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2967736	NM_182493.3(MYLK3):c.1731C>T (p.Asp577=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966437	NM_182493.3(MYLK3):c.1849A>G (p.Thr617Ala)	MYLK3 (T276A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966298	NM_182493.3(MYLK3):c.521T>G (p.Val174Gly)	MYLK3 (V174G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2963270	NM_182493.3(MYLK3):c.705A>C (p.Ala235=)	MYLK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2963168	NM_182493.3(MYLK3):c.273C>T (p.Pro91=)	MYLK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961839	NM_182493.3(MYLK3):c.627G>C (p.Ala209=)	MYLK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961016	NM_182493.3(MYLK3):c.424A>G (p.Met142Val)	MYLK3 (M142V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2957949	NM_182493.3(MYLK3):c.212G>A (p.Arg71Gln)	MYLK3 (R71Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2957400	NM_182493.3(MYLK3):c.1138C>G (p.Arg380Gly)	MYLK3 (R380G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908109	NM_182493.3(MYLK3):c.25C>A (p.Leu9Met)	MYLK3 (L9M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2904103	NM_182493.3(MYLK3):c.790T>C (p.Leu264=)	MYLK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2903778	NM_182493.3(MYLK3):c.1400C>T (p.Pro467Leu)	MYLK3 (P467L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901442	NM_182493.3(MYLK3):c.1241C>A (p.Ala414Glu)	MYLK3 (A414E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901017	NM_182493.3(MYLK3):c.123C>T (p.His41=)	MYLK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2897902	NM_182493.3(MYLK3):c.360G>A (p.Ala120=)	MYLK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2895845	NM_182493.3(MYLK3):c.2319G>C (p.Leu773Phe)	MYLK3 (L432F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895036	NM_182493.3(MYLK3):c.949G>A (p.Gly317Arg)	MYLK3 (G317R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2886540	NM_182493.3(MYLK3):c.1464T>C (p.Asp488=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885876	NM_182493.3(MYLK3):c.220G>A (p.Gly74Ser)	MYLK3 (G74S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2880161	NM_182493.3(MYLK3):c.1105C>T (p.Gln369Ter)	MYLK3 (Q369* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2878150	NM_182493.3(MYLK3):c.1408G>A (p.Ala470Thr)	MYLK3 (A129T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876138	NM_182493.3(MYLK3):c.1012C>A (p.His338Asn)	MYLK3 (H338N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2874452	NM_182493.3(MYLK3):c.1766T>C (p.Met589Thr)	MYLK3 (M248T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873886	NM_182493.3(MYLK3):c.1762G>A (p.Val588Ile)	MYLK3 (V247I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873404	NM_182493.3(MYLK3):c.2239G>C (p.Val747Leu)	MYLK3 (V406L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872469	NM_182493.3(MYLK3):c.1773-18C>T	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870762	NM_182493.3(MYLK3):c.755A>T (p.Glu252Val)	MYLK3 (E252V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2870290	NM_182493.3(MYLK3):c.2105C>T (p.Thr702Ile)	MYLK3 (T361I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869380	NM_182493.3(MYLK3):c.477+17C>T	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869059	NM_182493.3(MYLK3):c.1462+10G>T	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866892	NM_182493.3(MYLK3):c.1350C>G (p.Ser450Arg)	MYLK3 (S109R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865151	NM_182493.3(MYLK3):c.787G>C (p.Glu263Gln)	MYLK3 (E263Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2862176	NM_182493.3(MYLK3):c.1613G>T (p.Gly538Val)	MYLK3 (G197V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858993	NM_182493.3(MYLK3):c.2460A>C (p.Ter820Tyr)	MYLK3	Single nucleotide variant (stop lost)	not provided	GUncertain significance

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