MYOM3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2494770	NM_152372.4(MYOM3):c.4307G>A (p.Ser1436Asn)	MYOM3 (S1436N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457442	NM_152372.4(MYOM3):c.4250C>T (p.Thr1417Met)	MYOM3 (T1417M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561254	NM_152372.4(MYOM3):c.4210C>T (p.Arg1404Cys)	MYOM3 (R1404C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591676	NM_152372.4(MYOM3):c.4144C>T (p.Arg1382Cys)	MYOM3 (R1382C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638486	NM_152372.4(MYOM3):c.4134T>C (p.Leu1378=)	MYOM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2470276	NM_152372.4(MYOM3):c.4123G>A (p.Val1375Ile)	MYOM3 (V1375I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168997	NM_152372.4(MYOM3):c.4072G>A (p.Val1358Ile)	MYOM3 (V1358I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520199	NM_152372.4(MYOM3):c.4054C>A (p.Leu1352Met)	MYOM3 (L1352M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600732	NM_152372.4(MYOM3):c.4031C>G (p.Ala1344Gly)	MYOM3 (A1344G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168993	NM_152372.4(MYOM3):c.4022C>T (p.Pro1341Leu)	MYOM3 (P1341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168990	NM_152372.4(MYOM3):c.3920A>C (p.Asp1307Ala)	MYOM3 (D1307A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168987	NM_152372.4(MYOM3):c.3846C>A (p.Asp1282Glu)	MYOM3 (D1282E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168986	NM_152372.4(MYOM3):c.3803G>A (p.Arg1268Lys)	MYOM3 (R1268K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168985	NM_152372.4(MYOM3):c.3797G>A (p.Arg1266Gln)	MYOM3 (R1266Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168981	NM_152372.4(MYOM3):c.3745T>C (p.Tyr1249His)	MYOM3 (Y1249H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638487	NM_152372.4(MYOM3):c.3696C>T (p.Thr1232=)	MYOM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3168976	NM_152372.4(MYOM3):c.3680T>C (p.Leu1227Pro)	MYOM3 (L1227P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288757	NM_152372.4(MYOM3):c.3607G>T (p.Asp1203Tyr)	MYOM3 (D1203Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334027	NM_152372.4(MYOM3):c.3580G>T (p.Asp1194Tyr)	MYOM3 (D1194Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326614	NM_152372.4(MYOM3):c.3546G>T (p.Lys1182Asn)	MYOM3 (K1182N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298093	NM_152372.4(MYOM3):c.3538T>C (p.Ser1180Pro)	MYOM3 (S1180P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816846	NM_152372.4(MYOM3):c.3534+56G>A	MYOM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2232703	NM_152372.4(MYOM3):c.3523T>G (p.Cys1175Gly)	MYOM3 (C1175G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638488	NM_152372.4(MYOM3):c.3513G>A (p.Thr1171=)	MYOM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2371089	NM_152372.4(MYOM3):c.3502G>A (p.Glu1168Lys)	MYOM3 (E1168K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618646	NM_152372.4(MYOM3):c.3418T>C (p.Cys1140Arg)	MYOM3 (C1140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168950	NM_152372.4(MYOM3):c.3398A>G (p.Asp1133Gly)	MYOM3 (D1133G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638489	NM_152372.4(MYOM3):c.3294C>T (p.Asp1098=)	MYOM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2472162	NM_152372.4(MYOM3):c.3253G>A (p.Gly1085Arg)	MYOM3 (G1085R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356751	NM_152372.4(MYOM3):c.3238G>A (p.Ala1080Thr)	MYOM3 (A1080T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168939	NM_152372.4(MYOM3):c.3235A>G (p.Thr1079Ala)	MYOM3 (T1079A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254442	NM_152372.4(MYOM3):c.3220G>T (p.Asp1074Tyr)	MYOM3 (D1074Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168934	NM_152372.4(MYOM3):c.3173G>C (p.Arg1058Pro)	MYOM3 (R1058P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470651	NM_152372.4(MYOM3):c.3172C>G (p.Arg1058Gly)	MYOM3 (R1058G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455489	NM_152372.4(MYOM3):c.3149C>T (p.Pro1050Leu)	MYOM3 (P1050L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524434	NM_152372.4(MYOM3):c.3140T>C (p.Phe1047Ser)	MYOM3 (F1047S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389401	NM_152372.4(MYOM3):c.3108G>C (p.Glu1036Asp)	MYOM3 (E1036D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555330	NM_152372.4(MYOM3):c.3082G>A (p.Val1028Ile)	MYOM3 (V1028I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547468	NM_152372.4(MYOM3):c.3008A>G (p.Asn1003Ser)	MYOM3 (N1003S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168902	NM_152372.4(MYOM3):c.2960C>T (p.Thr987Ile)	MYOM3 (T987I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168901	NM_152372.4(MYOM3):c.2959A>T (p.Thr987Ser)	MYOM3 (T987S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535008	NM_152372.4(MYOM3):c.2899G>C (p.Gly967Arg)	MYOM3 (G967R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298095	NM_152372.4(MYOM3):c.2890G>A (p.Glu964Lys)	MYOM3 (E964K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168896	NM_152372.4(MYOM3):c.2734G>A (p.Glu912Lys)	MYOM3 (E912K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298081	NM_152372.4(MYOM3):c.2716G>A (p.Glu906Lys)	MYOM3 (E906K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332236	NM_152372.4(MYOM3):c.2709T>G (p.His903Gln)	MYOM3 (H903Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367974	NM_152372.4(MYOM3):c.2680G>A (p.Val894Met)	MYOM3 (V894M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298844	NM_152372.4(MYOM3):c.2669C>T (p.Pro890Leu)	MYOM3 (P890L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494769	NM_152372.4(MYOM3):c.2665A>G (p.Met889Val)	MYOM3 (M889V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298086	NM_152372.4(MYOM3):c.2644G>C (p.Ala882Pro)	MYOM3 (A882P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638490	NM_152372.4(MYOM3):c.2586+1G>A	MYOM3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3168884	NM_152372.4(MYOM3):c.2564C>T (p.Pro855Leu)	MYOM3 (P855L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168882	NM_152372.4(MYOM3):c.2552T>A (p.Val851Asp)	MYOM3 (V851D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168881	NM_152372.4(MYOM3):c.2494C>T (p.Pro832Ser)	MYOM3 (P832S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168880	NM_152372.4(MYOM3):c.2485G>A (p.Gly829Arg)	MYOM3 (G829R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168878	NM_152372.4(MYOM3):c.2482A>G (p.Met828Val)	MYOM3 (M828V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375603	NM_152372.4(MYOM3):c.2441G>A (p.Arg814Gln)	MYOM3 (R814Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168875	NM_152372.4(MYOM3):c.2440C>T (p.Arg814Trp)	MYOM3 (R814W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168873	NM_152372.4(MYOM3):c.2437G>A (p.Val813Met)	MYOM3 (V813M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298092	NM_152372.4(MYOM3):c.2347G>A (p.Gly783Ser)	MYOM3 (G783S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298094	NM_152372.4(MYOM3):c.2344G>A (p.Val782Ile)	MYOM3 (V782I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349834	NM_152372.4(MYOM3):c.2314T>C (p.Phe772Leu)	MYOM3 (F772L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279881	NM_152372.4(MYOM3):c.2299G>A (p.Gly767Ser)	MYOM3 (G767S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294945	NM_152372.4(MYOM3):c.2270G>C (p.Arg757Pro)	MYOM3 (R757P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168861	NM_152372.4(MYOM3):c.2254C>G (p.Gln752Glu)	MYOM3 (Q752E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168859	NM_152372.4(MYOM3):c.2176C>A (p.Arg726Ser)	MYOM3 (R726S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168855	NM_152372.4(MYOM3):c.2150T>A (p.Val717Asp)	MYOM3 (V717D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604025	NM_152372.4(MYOM3):c.2077G>T (p.Val693Phe)	MYOM3 (V693F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168846	NM_152372.4(MYOM3):c.1994C>G (p.Thr665Arg)	MYOM3 (T665R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510373	NM_152372.4(MYOM3):c.1966A>C (p.Thr656Pro)	MYOM3 (T656P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298079	NM_152372.4(MYOM3):c.1913G>A (p.Arg638Gln)	MYOM3 (R638Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544864	NM_152372.4(MYOM3):c.1906T>C (p.Tyr636His)	MYOM3 (Y636H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168832	NM_152372.4(MYOM3):c.1786C>T (p.Arg596Trp)	MYOM3 (R596W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595557	NM_152372.4(MYOM3):c.1780G>A (p.Ala594Thr)	MYOM3 (A594T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354481	NM_152372.4(MYOM3):c.1760C>T (p.Ser587Leu)	MYOM3 (S587L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598168	NM_152372.4(MYOM3):c.1735A>T (p.Asn579Tyr)	MYOM3 (N579Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638491	NM_152372.4(MYOM3):c.1710G>A (p.Ser570=)	MYOM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3298090	NM_152372.4(MYOM3):c.1684G>T (p.Val562Phe)	MYOM3 (V562F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816847	NM_152372.4(MYOM3):c.1684G>A (p.Val562Ile)	MYOM3 (V562I)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 3168825	NM_152372.4(MYOM3):c.1651T>C (p.Ser551Pro)	MYOM3 (S551P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294318	NM_152372.4(MYOM3):c.1568A>C (p.Glu523Ala)	MYOM3 (E523A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355386	NM_152372.4(MYOM3):c.1531G>A (p.Glu511Lys)	MYOM3 (E511K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387743	NM_152372.4(MYOM3):c.1525G>A (p.Ala509Thr)	MYOM3 (A509T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298083	NM_152372.4(MYOM3):c.1517A>G (p.Asn506Ser)	MYOM3 (N506S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168803	NM_152372.4(MYOM3):c.1499T>A (p.Ile500Asn)	MYOM3 (I500N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227539	NM_152372.4(MYOM3):c.1439C>T (p.Pro480Leu)	MYOM3 (P480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168797	NM_152372.4(MYOM3):c.1430C>T (p.Thr477Ile)	MYOM3 (T477I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168793	NM_152372.4(MYOM3):c.1381G>A (p.Ala461Thr)	MYOM3 (A461T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375114	NM_152372.4(MYOM3):c.1369G>A (p.Val457Ile)	MYOM3 (V457I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330732	NM_152372.4(MYOM3):c.1346C>A (p.Ala449Asp)	MYOM3 (A449D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293656	NM_152372.4(MYOM3):c.1343G>C (p.Arg448Thr)	MYOM3 (R448T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238950	NM_152372.4(MYOM3):c.1336C>T (p.Arg446Trp)	MYOM3 (R446W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601235	NM_152372.4(MYOM3):c.1330C>T (p.Arg444Trp)	MYOM3 (R444W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514903	NM_152372.4(MYOM3):c.1291C>T (p.Arg431Trp)	MYOM3 (R431W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168776	NM_152372.4(MYOM3):c.1289G>A (p.Cys430Tyr)	MYOM3 (C430Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337391	NM_152372.4(MYOM3):c.1249G>A (p.Gly417Arg)	MYOM3 (G417R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168766	NM_152372.4(MYOM3):c.1199G>A (p.Arg400Gln)	MYOM3 (R400Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306300	NM_152372.4(MYOM3):c.1150G>A (p.Val384Met)	MYOM3 (V384M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298097	NM_152372.4(MYOM3):c.1141T>C (p.Cys381Arg)	MYOM3 (C381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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