ClinVar for Gene (Select 4640) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297774	NM_005379.4(MYO1A):c.2771C>T (p.Thr924Ile)	MYO1A (T924I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297773	NM_005379.4(MYO1A):c.2723A>C (p.Lys908Thr)	MYO1A (K908T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297772	NM_005379.4(MYO1A):c.1062T>G (p.Phe354Leu)	MYO1A (F354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297771	NM_005379.4(MYO1A):c.2885C>T (p.Ser962Leu)	MYO1A (S962L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297769	NM_005379.4(MYO1A):c.1871G>C (p.Gly624Ala)	MYO1A (G624A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297768	NM_005379.4(MYO1A):c.2830T>G (p.Ser944Ala)	MYO1A (S944A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297767	NM_005379.4(MYO1A):c.1300G>C (p.Asp434His)	MYO1A (D434H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297766	NM_005379.4(MYO1A):c.1675C>T (p.Arg559Cys)	MYO1A (R559C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297765	NM_005379.4(MYO1A):c.960G>T (p.Arg320Ser)	MYO1A (R320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297764	NM_005379.4(MYO1A):c.755C>A (p.Ala252Glu)	MYO1A (A252E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297763	NM_005379.4(MYO1A):c.1856G>A (p.Arg619Gln)	MYO1A (R619Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297762	NM_005379.4(MYO1A):c.2621T>C (p.Ile874Thr)	MYO1A (I874T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297761	NM_005379.4(MYO1A):c.2695G>A (p.Val899Met)	MYO1A (V899M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297760	NM_005379.4(MYO1A):c.1660C>G (p.Gln554Glu)	MYO1A (Q554E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297758	NM_005379.4(MYO1A):c.1682C>T (p.Pro561Leu)	MYO1A (P561L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3163049	NM_005379.4(MYO1A):c.533T>C (p.Ile178Thr)	LOC126861538, MYO1A (I178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163044	NM_005379.4(MYO1A):c.491A>C (p.Asp164Ala)	LOC126861538, MYO1A (D164A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163027	NM_005379.4(MYO1A):c.3085C>T (p.Arg1029Cys)	MYO1A (R1029C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163016	NM_005379.4(MYO1A):c.2995G>A (p.Val999Met)	MYO1A (V999M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163006	NM_005379.4(MYO1A):c.2840G>T (p.Ser947Ile)	MYO1A (S947I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163002	NM_005379.4(MYO1A):c.2821G>T (p.Ala941Ser)	MYO1A (A941S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162993	NM_005379.4(MYO1A):c.2734C>T (p.Arg912Trp)	MYO1A (R912W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162975	NM_005379.4(MYO1A):c.2363T>A (p.Leu788Gln)	MYO1A (L788Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162968	NM_005379.4(MYO1A):c.2309A>C (p.Glu770Ala)	MYO1A (E770A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162955	NM_005379.4(MYO1A):c.1916G>A (p.Arg639Gln)	MYO1A (R639Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162945	NM_005379.4(MYO1A):c.1600G>A (p.Ala534Thr)	MYO1A (A534T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162934	NM_005379.4(MYO1A):c.1495G>A (p.Gly499Ser)	MYO1A (G499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058217	NM_005379.4(MYO1A):c.33G>A (p.Glu11=)	MYO1A	Single nucleotide variant (synonymous variant)	MYO1A-related disorder	GLikely benign
Select item 3057581	NM_005379.4(MYO1A):c.2954G>A (p.Arg985Gln)	MYO1A (R985Q)	Single nucleotide variant (missense variant)	MYO1A-related disorder	GLikely benign
Select item 3048834	NM_005379.4(MYO1A):c.2055T>C (p.Thr685=)	MYO1A	Single nucleotide variant (synonymous variant)	MYO1A-related disorder	GLikely benign
Select item 3025573	NM_005379.4(MYO1A):c.2250C>A (p.Ile750=)	MYO1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689512	NM_005379.4(MYO1A):c.58G>A (p.Val20Met)	MYO1A (V20M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2643107	NM_005379.4(MYO1A):c.907G>A (p.Gly303Arg)	MYO1A (G303R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643106	NM_005379.4(MYO1A):c.2220T>G (p.Tyr740Ter)	MYO1A (Y740*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2628395	NM_005379.4(MYO1A):c.74_76dup (p.Leu25_Lys26insIle)	MYO1A	Duplication (inframe_insertion)	MYO1A-related disorder	GUncertain significance
Select item 2615517	NM_005379.4(MYO1A):c.352G>A (p.Val118Met)	LOC126861538, MYO1A (V118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615516	NM_005379.4(MYO1A):c.2141G>T (p.Arg714Leu)	MYO1A (R714L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594044	NM_005379.4(MYO1A):c.2291G>T (p.Arg764Leu)	MYO1A (R764L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569705	NM_005379.4(MYO1A):c.1792G>A (p.Gly598Ser)	MYO1A (G598S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558528	NM_005379.4(MYO1A):c.1274T>C (p.Ile425Thr)	MYO1A (I425T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545473	NM_005379.4(MYO1A):c.1375C>T (p.Arg459Trp)	MYO1A (R459W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518890	NM_005379.4(MYO1A):c.1679C>T (p.Pro560Leu)	MYO1A (P560L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2487838	NM_005379.4(MYO1A):c.1994G>A (p.Ser665Asn)	MYO1A (S665N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465521	NM_005379.4(MYO1A):c.122T>C (p.Ile41Thr)	MYO1A (I41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462872	NM_005379.4(MYO1A):c.785G>A (p.Arg262Gln)	MYO1A (R262Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462809	NM_005379.4(MYO1A):c.2335A>G (p.Ile779Val)	MYO1A (I779V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402366	NM_005379.4(MYO1A):c.956C>T (p.Ser319Leu)	MYO1A (S319L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401217	NM_005379.4(MYO1A):c.721G>A (p.Ala241Thr)	MYO1A (A241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390544	NM_005379.4(MYO1A):c.2972C>T (p.Thr991Met)	MYO1A (T991M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387537	NM_005379.4(MYO1A):c.1526C>T (p.Ala509Val)	MYO1A (A509V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383466	NM_005379.4(MYO1A):c.3072C>A (p.Asp1024Glu)	MYO1A (D1024E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383054	NM_005379.4(MYO1A):c.1287G>T (p.Lys429Asn)	MYO1A (K429N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374297	NM_005379.4(MYO1A):c.2497C>T (p.Arg833Trp)	MYO1A (R833W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372477	NM_005379.4(MYO1A):c.1378C>T (p.Pro460Ser)	MYO1A (P460S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349668	NM_005379.4(MYO1A):c.247G>A (p.Val83Met)	LOC126861538, MYO1A (V83M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334425	NM_005379.4(MYO1A):c.1467T>A (p.Asn489Lys)	MYO1A (N489K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334374	NM_005379.4(MYO1A):c.1411A>G (p.Lys471Glu)	MYO1A (K471E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328485	NM_005379.4(MYO1A):c.358G>C (p.Ala120Pro)	LOC126861538, MYO1A (A120P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307159	NM_005379.4(MYO1A):c.3110G>C (p.Cys1037Ser)	MYO1A (C1037S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298423	NM_005379.4(MYO1A):c.32A>C (p.Glu11Ala)	MYO1A (E11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295484	NM_005379.4(MYO1A):c.2918G>A (p.Ser973Asn)	MYO1A (S973N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292963	NM_005379.4(MYO1A):c.1996A>G (p.Met666Val)	MYO1A (M666V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291576	NM_005379.4(MYO1A):c.2214A>T (p.Lys738Asn)	MYO1A (K738N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283581	NM_005379.4(MYO1A):c.2294A>G (p.Lys765Arg)	MYO1A (K765R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255033	NM_005379.4(MYO1A):c.1616A>T (p.Gln539Leu)	MYO1A (Q539L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251675	NM_005379.4(MYO1A):c.1636T>G (p.Leu546Val)	MYO1A (L546V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223451	NM_005379.4(MYO1A):c.3030C>G (p.Asn1010Lys)	MYO1A (N1010K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219609	NM_005379.4(MYO1A):c.23T>C (p.Val8Ala)	MYO1A (V8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213635	NM_005379.4(MYO1A):c.3076A>G (p.Ser1026Gly)	MYO1A (S1026G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1701204	NM_005379.4(MYO1A):c.278G>A (p.Arg93Gln)	LOC126861538, MYO1A (R93Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1326653	NM_005379.4(MYO1A):c.2878-45G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320595	NM_005379.4(MYO1A):c.892+51T>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318916	NM_005379.4(MYO1A):c.*19A>G	MYO1A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1317916	NM_005379.4(MYO1A):c.2591+22C>T	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317624	NM_005379.4(MYO1A):c.3005+94C>T	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316208	NM_005379.4(MYO1A):c.2592-55G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316207	NM_005379.4(MYO1A):c.2055+20A>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316206	NM_005379.4(MYO1A):c.1099-69G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289007	NM_005379.4(MYO1A):c.2877+22A>G	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278954	NM_005379.4(MYO1A):c.2350-188G>A	LOC130008108, MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271685	NM_005379.4(MYO1A):c.2349+116A>G	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270231	NM_005379.4(MYO1A):c.2591+62G>T	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262484	NM_005379.4(MYO1A):c.1761-164G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257837	NM_005379.4(MYO1A):c.2275-156G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257585	NM_005379.4(MYO1A):c.3006-63T>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251102	NM_005379.4(MYO1A):c.1165-50C>T	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250385	NM_005379.4(MYO1A):c.2274+16AG[2]	MYO1A	Microsatellite (intron variant)	not provided	GBenign
Select item 1228542	NM_005379.4(MYO1A):c.2592-58G>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227996	NM_005379.4(MYO1A):c.-20-12T>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227184	NM_005379.4(MYO1A):c.2591+146A>G	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227041	NM_005379.4(MYO1A):c.1098+111G>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182971	NM_005379.4(MYO1A):c.-20-54T>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181530	NM_005379.4(MYO1A):c.2274+121G>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175634	NM_005379.4(MYO1A):c.2485-45C>A	MYO1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 683283	NM_005379.4(MYO1A):c.2055+82G>C	MYO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682258	NM_005379.4(MYO1A):c.905T>C (p.Ile302Thr)	MYO1A (I302T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 682253	NM_005379.4(MYO1A):c.2530C>T (p.Leu844=)	MYO1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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