ClinVar for Gene (Select 4649) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166935	NM_006901.4(MYO9A):c.7567G>T (p.Gly2523Cys)	MYO9A (G2523C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166923	NM_006901.4(MYO9A):c.7453C>T (p.Pro2485Ser)	MYO9A (P2485S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166905	NM_006901.4(MYO9A):c.724G>T (p.Gly242Cys)	MYO9A (G242C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166897	NM_006901.4(MYO9A):c.7075C>T (p.Pro2359Ser)	MYO9A (P2359S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166892	NM_006901.4(MYO9A):c.6976C>G (p.Gln2326Glu)	MYO9A (Q2326E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166883	NM_006901.4(MYO9A):c.6883C>A (p.Pro2295Thr)	MYO9A (P2295T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166875	NM_006901.4(MYO9A):c.6709A>G (p.Thr2237Ala)	MYO9A (T2237A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166871	NM_006901.4(MYO9A):c.6670A>G (p.Thr2224Ala)	MYO9A (T2224A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166864	NM_006901.4(MYO9A):c.6502C>T (p.Arg2168Cys)	MYO9A (R2168C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166832	NM_006901.4(MYO9A):c.5899G>A (p.Glu1967Lys)	MYO9A (E1967K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166819	NM_006901.4(MYO9A):c.5633T>A (p.Leu1878Gln)	MYO9A (L1878Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166801	NM_006901.4(MYO9A):c.5455C>T (p.Arg1819Trp)	MYO9A (R1819W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166761	NM_006901.4(MYO9A):c.5099C>T (p.Pro1700Leu)	MYO9A (P1700L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166756	NM_006901.4(MYO9A):c.5096A>G (p.Glu1699Gly)	MYO9A (E1699G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166753	NM_006901.4(MYO9A):c.5054A>C (p.Glu1685Ala)	MYO9A (E1685A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166746	NM_006901.4(MYO9A):c.4931G>A (p.Arg1644Lys)	MYO9A (R1644K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166724	NM_006901.4(MYO9A):c.4477C>G (p.Leu1493Val)	MYO9A (L1493V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166721	NM_006901.4(MYO9A):c.4426C>T (p.Pro1476Ser)	MYO9A (P1476S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166709	NM_006901.4(MYO9A):c.4274A>G (p.Gln1425Arg)	MYO9A (Q1425R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166703	NM_006901.4(MYO9A):c.4216C>G (p.Pro1406Ala)	MYO9A (P1406A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166676	NM_006901.4(MYO9A):c.3878G>A (p.Arg1293His)	MYO9A (R1293H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166663	NM_006901.4(MYO9A):c.3659G>A (p.Arg1220His)	MYO9A (R1220H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3166647	NM_006901.4(MYO9A):c.3335A>G (p.Tyr1112Cys)	MYO9A (Y1112C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3166639	NM_006901.4(MYO9A):c.3293G>A (p.Arg1098Gln)	MYO9A (R1098Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166632	NM_006901.4(MYO9A):c.3277C>T (p.Arg1093Trp)	MYO9A (R1093W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166609	NM_006901.4(MYO9A):c.3023G>A (p.Arg1008Gln)	MYO9A (R1008Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166583	NM_006901.4(MYO9A):c.2456A>T (p.Asp819Val)	MYO9A (D819V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166574	NM_006901.4(MYO9A):c.2416A>G (p.Ile806Val)	MYO9A (I806V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166569	NM_006901.4(MYO9A):c.2312G>A (p.Arg771Gln)	MYO9A (R771Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166558	NM_006901.4(MYO9A):c.2172C>G (p.His724Gln)	MYO9A (H724Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3166544	NM_006901.4(MYO9A):c.1865A>G (p.Gln622Arg)	MYO9A (Q622R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166539	NM_006901.4(MYO9A):c.1765T>C (p.Tyr589His)	MYO9A (Y589H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166534	NM_006901.4(MYO9A):c.1703A>G (p.His568Arg)	MYO9A (H568R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166529	NM_006901.4(MYO9A):c.1498A>G (p.Lys500Glu)	MYO9A (K500E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166520	NM_006901.4(MYO9A):c.1318C>T (p.Arg440Trp)	MYO9A (R440W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166505	NM_006901.4(MYO9A):c.1154C>T (p.Pro385Leu)	MYO9A (P385L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166502	NM_006901.4(MYO9A):c.1078G>A (p.Glu360Lys)	MYO9A (E360K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067936	NM_006901.4(MYO9A):c.5701C>T (p.Arg1901Trp)	MYO9A (R1901W)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 3067913	NM_006901.4(MYO9A):c.2375A>C (p.Gln792Pro)	MYO9A (Q792P)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 3057786	NM_006901.4(MYO9A):c.570G>A (p.Lys190=)	MYO9A	Single nucleotide variant (synonymous variant)	MYO9A-related condition	GLikely benign
Select item 3057042	NM_006901.4(MYO9A):c.5500C>T (p.Arg1834Cys)	MYO9A (R1834C)	Single nucleotide variant (missense variant)	MYO9A-related condition	GBenign
Select item 3051543	NM_006901.4(MYO9A):c.3470+10A>G	MYO9A	Single nucleotide variant (intron variant)	MYO9A-related condition	GLikely benign
Select item 3051380	NM_006901.4(MYO9A):c.5500C>A (p.Arg1834Ser)	MYO9A (R1834S)	Single nucleotide variant (missense variant)	MYO9A-related condition	GLikely benign
Select item 3046947	NM_006901.4(MYO9A):c.6999G>A (p.Glu2333=)	MYO9A	Single nucleotide variant (synonymous variant)	MYO9A-related condition	GLikely benign
Select item 3044933	NM_006901.4(MYO9A):c.5445C>T (p.Pro1815=)	MYO9A	Single nucleotide variant (synonymous variant)	MYO9A-related condition	GLikely benign
Select item 3043472	NM_006901.4(MYO9A):c.5001G>A (p.Arg1667=)	MYO9A	Single nucleotide variant (synonymous variant)	MYO9A-related condition	GLikely benign
Select item 3039905	NM_006901.4(MYO9A):c.5592A>G (p.Leu1864=)	MYO9A	Single nucleotide variant (synonymous variant)	MYO9A-related condition	GLikely benign
Select item 3037532	NM_006901.4(MYO9A):c.4084T>C (p.Ser1362Pro)	MYO9A (S1362P)	Single nucleotide variant (missense variant)	MYO9A-related condition	GBenign
Select item 3033766	NM_006901.4(MYO9A):c.4293A>G (p.Thr1431=)	MYO9A	Single nucleotide variant (synonymous variant)	MYO9A-related condition	GLikely benign
Select item 3033672	NM_006901.4(MYO9A):c.7184-8dup	MYO9A	Duplication (intron variant)	MYO9A-related condition	GLikely benign
Select item 2689517	NM_006901.4(MYO9A):c.4745C>T (p.Ala1582Val)	MYO9A (A1582V)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2672591	NM_006901.4(MYO9A):c.1390G>A (p.Glu464Lys)	MYO9A (E464K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2664911	NM_006901.4(MYO9A):c.4807G>A (p.Val1603Met)	MYO9A (V1603M)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2664910	NM_006901.4(MYO9A):c.6416G>A (p.Arg2139Gln)	MYO9A (R2139Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2645510	NM_006901.4(MYO9A):c.1462T>C (p.Leu488=)	MYO9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645509	NM_006901.4(MYO9A):c.2935A>G (p.Asn979Asp)	MYO9A (N979D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2645508	NM_006901.4(MYO9A):c.3740A>G (p.Gln1247Arg)	MYO9A (Q1247R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645507	NM_006901.4(MYO9A):c.4332A>G (p.Leu1444=)	MYO9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630753	NM_006901.4(MYO9A):c.7530G>C (p.Gln2510His)	MYO9A (Q2510H)	Single nucleotide variant (missense variant)	MYO9A-related condition	GUncertain significance
Select item 2623397	NM_006901.4(MYO9A):c.3049C>G (p.Gln1017Glu)	MYO9A (Q1017E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621232	NM_006901.4(MYO9A):c.2186A>C (p.His729Pro)	MYO9A (H729P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613604	NM_006901.4(MYO9A):c.1549G>C (p.Ala517Pro)	MYO9A (A517P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610965	NM_006901.4(MYO9A):c.4412A>G (p.Lys1471Arg)	MYO9A (K1471R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610861	NM_006901.4(MYO9A):c.188T>C (p.Leu63Pro)	MYO9A (L63P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608961	NM_006901.4(MYO9A):c.5426C>T (p.Pro1809Leu)	MYO9A (P1809L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608207	NM_006901.4(MYO9A):c.7277T>C (p.Leu2426Ser)	MYO9A (L2426S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607783	NM_006901.4(MYO9A):c.1307A>G (p.Lys436Arg)	MYO9A (K436R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605729	NM_006901.4(MYO9A):c.6227C>T (p.Pro2076Leu)	MYO9A (P2076L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605465	NM_006901.4(MYO9A):c.6028C>T (p.Pro2010Ser)	MYO9A (P2010S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600597	NM_006901.4(MYO9A):c.6176G>A (p.Arg2059Gln)	MYO9A (R2059Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593713	NM_006901.4(MYO9A):c.4081A>G (p.Ile1361Val)	MYO9A (I1361V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580247	NM_006901.4(MYO9A):c.7224G>C (p.Lys2408Asn)	MYO9A (K2408N)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2580246	NM_006901.4(MYO9A):c.6419A>G (p.Asp2140Gly)	MYO9A (D2140G)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2554168	NM_006901.4(MYO9A):c.4109G>A (p.Arg1370Gln)	MYO9A (R1370Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2544212	NM_006901.4(MYO9A):c.5794A>G (p.Ile1932Val)	MYO9A (I1932V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536513	NM_006901.4(MYO9A):c.6248T>C (p.Ile2083Thr)	MYO9A (I2083T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533295	NM_006901.4(MYO9A):c.7562T>G (p.Met2521Arg)	MYO9A (M2521R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532982	NM_006901.4(MYO9A):c.7382G>A (p.Arg2461Gln)	MYO9A (R2461Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532484	NM_006901.4(MYO9A):c.2162G>A (p.Arg721Lys)	MYO9A (R721K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522074	NM_006901.4(MYO9A):c.5861T>G (p.Val1954Gly)	MYO9A (V1954G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519044	NM_006901.4(MYO9A):c.3964C>T (p.Pro1322Ser)	MYO9A (P1322S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518996	NM_006901.4(MYO9A):c.1187G>C (p.Arg396Thr)	MYO9A (R396T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518138	NM_006901.4(MYO9A):c.2686G>T (p.Ala896Ser)	MYO9A (A896S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517095	NM_006901.4(MYO9A):c.557T>C (p.Ile186Thr)	MYO9A (I186T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516060	NM_006901.4(MYO9A):c.289C>T (p.Arg97Cys)	MYO9A (R97C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510485	NM_006901.4(MYO9A):c.7063C>G (p.Leu2355Val)	MYO9A (L2355V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510484	NM_006901.4(MYO9A):c.5455C>G (p.Arg1819Gly)	MYO9A (R1819G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506585	NM_006901.4(MYO9A):c.2062A>G (p.Ile688Val)	MYO9A (I688V)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 2494768	NM_006901.4(MYO9A):c.5137A>G (p.Arg1713Gly)	MYO9A (R1713G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2493323	NM_006901.4(MYO9A):c.6982G>T (p.Ala2328Ser)	MYO9A (A2328S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492964	NM_006901.4(MYO9A):c.4063C>G (p.Gln1355Glu)	MYO9A (Q1355E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489092	NM_006901.4(MYO9A):c.2195C>T (p.Thr732Ile)	MYO9A (T732I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487812	NM_006901.4(MYO9A):c.883C>G (p.Arg295Gly)	MYO9A (R295G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486424	NM_006901.4(MYO9A):c.2657A>T (p.Lys886Ile)	MYO9A (K886I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485447	NM_006901.4(MYO9A):c.7274C>T (p.Ser2425Phe)	MYO9A (S2425F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465890	NM_006901.4(MYO9A):c.3293G>C (p.Arg1098Pro)	MYO9A (R1098P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2457654	NM_006901.4(MYO9A):c.1474G>A (p.Val492Met)	MYO9A (V492M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454217	NM_006901.4(MYO9A):c.1336A>G (p.Ile446Val)	MYO9A (I446V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433981	NM_006901.4(MYO9A):c.7216G>C (p.Ala2406Pro)	MYO9A (A2406P)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance

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