MYOF[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 3167926	NM_013451.4(MYOF):c.6127G>A (p.Val2043Met)	MYOF (V2030M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167921	NM_013451.4(MYOF):c.6120C>A (p.Phe2040Leu)	MYOF (F2027L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026407	NM_013451.4(MYOF):c.6059T>C (p.Val2020Ala)	MYOF (V2007A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345588	NM_013451.4(MYOF):c.5999+6_5999+7del	MYOF	Microsatellite (intron variant)	MYOF-related disorder	GLikely benign
Select item 2640683	NM_013451.4(MYOF):c.5990A>G (p.Asp1997Gly)	MYOF (D1984G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175776	NM_013451.4(MYOF):c.5967A>G (p.Glu1989=)	MYOF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3167914	NM_013451.4(MYOF):c.5959C>T (p.Arg1987Trp)	MYOF (R1974W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035292	NM_013451.4(MYOF):c.5959C>A (p.Arg1987=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GLikely benign
Select item 2594320	NM_013451.4(MYOF):c.5935G>A (p.Asp1979Asn)	MYOF (D1979N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167907	NM_013451.4(MYOF):c.5932G>A (p.Ala1978Thr)	MYOF (A1965T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040304	NM_013451.4(MYOF):c.5922C>T (p.Asn1974=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GLikely benign
Select item 3167903	NM_013451.4(MYOF):c.5921A>G (p.Asn1974Ser)	MYOF (N1961S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215711	NM_013451.4(MYOF):c.5879G>A (p.Arg1960His)	MYOF (R1947H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167897	NM_013451.4(MYOF):c.5878C>T (p.Arg1960Cys)	MYOF (R1947C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341350	NM_013451.4(MYOF):c.5860G>A (p.Ala1954Thr)	MYOF (A1941T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489901	NM_013451.4(MYOF):c.5795C>A (p.Pro1932His)	MYOF (P1919H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167886	NM_013451.4(MYOF):c.5785G>A (p.Ala1929Thr)	MYOF (A1916T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353463	NM_013451.4(MYOF):c.5774C>T (p.Pro1925Leu)	MYOF (P1912L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640684	NM_013451.4(MYOF):c.5767A>T (p.Met1923Leu)	MYOF (M1910L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1279363	NM_013451.4(MYOF):c.5760A>G (p.Arg1920=)	MYOF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2205157	NM_013451.4(MYOF):c.5738C>T (p.Ala1913Val)	MYOF (A1913V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167879	NM_013451.4(MYOF):c.5719C>T (p.Arg1907Cys)	MYOF (R1907C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640685	NM_013451.4(MYOF):c.5667C>A (p.Asp1889Glu)	MYOF (D1876E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2296517	NM_013451.4(MYOF):c.5661A>G (p.Ile1887Met)	MYOF (I1887M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312445	NM_013451.4(MYOF):c.5624C>T (p.Thr1875Met)	MYOF (T1862M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042231	NM_013451.4(MYOF):c.5591C>T (p.Ala1864Val)	MYOF (A1851V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640686	NM_013451.4(MYOF):c.5586C>T (p.Ile1862=)	MYOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2371537	NM_013451.4(MYOF):c.5494G>C (p.Asp1832His)	MYOF (D1832H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3345930	NM_013451.4(MYOF):c.5456+3A>G	MYOF	Single nucleotide variant (intron variant)	MYOF-related disorder	GLikely benign
Select item 2387910	NM_013451.4(MYOF):c.5449G>A (p.Val1817Ile)	MYOF (V1804I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056154	NM_013451.4(MYOF):c.5409C>T (p.Asp1803=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GBenign
Select item 3056007	NM_013451.4(MYOF):c.5397C>T (p.Asp1799=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GBenign
Select item 3167859	NM_013451.4(MYOF):c.5372G>A (p.Arg1791His)	MYOF (R1791H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640687	NM_013451.4(MYOF):c.5347C>T (p.Arg1783Trp)	MYOF (R1770W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2269362	NM_013451.4(MYOF):c.5342C>A (p.Thr1781Lys)	MYOF (T1768K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789894	NM_013451.4(MYOF):c.5271+9C>T	MYOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1701148	NM_013451.4(MYOF):c.5260A>G (p.Asn1754Asp)	MYOF (N1741D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3298006	NM_013451.4(MYOF):c.5168C>T (p.Pro1723Leu)	MYOF (P1710L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207953	NM_013451.4(MYOF):c.5108G>A (p.Arg1703Gln)	MYOF (R1703Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167846	NM_013451.4(MYOF):c.5104G>A (p.Gly1702Arg)	MYOF (G1689R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786168	NM_013451.4(MYOF):c.4998C>G (p.Thr1666=)	MYOF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2613545	NM_013451.4(MYOF):c.4970A>T (p.Glu1657Val)	MYOF (E1644V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356441	NM_013451.4(MYOF):c.4943G>A (p.Arg1648His)	MYOF (R1635H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385840	NM_013451.4(MYOF):c.4889G>A (p.Arg1630Gln)	MYOF (R1630Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596109	NM_013451.4(MYOF):c.4888C>T (p.Arg1630Trp)	MYOF (R1630W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167827	NM_013451.4(MYOF):c.4870G>T (p.Asp1624Tyr)	MYOF (D1624Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253238	NM_013451.4(MYOF):c.4870G>A (p.Asp1624Asn)	MYOF (D1611N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167822	NM_013451.4(MYOF):c.4819G>A (p.Glu1607Lys)	MYOF (E1594K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207591	NM_013451.4(MYOF):c.4813A>G (p.Met1605Val)	MYOF (M1605V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1675425	NM_013451.4(MYOF):c.4811+7T>C	MYOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2353523	NM_013451.4(MYOF):c.4797C>G (p.Asn1599Lys)	MYOF (N1599K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3167815	NM_013451.4(MYOF):c.4789A>C (p.Thr1597Pro)	MYOF (T1597P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167813	NM_013451.4(MYOF):c.4723G>C (p.Asp1575His)	MYOF (D1562H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359445	NM_013451.4(MYOF):c.4661C>T (p.Thr1554Met)	MYOF (T1541M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167807	NM_013451.4(MYOF):c.4645G>A (p.Val1549Ile)	MYOF (V1536I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411274	NM_013451.4(MYOF):c.4627C>T (p.Arg1543Trp)	MYOF (R1530W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776526	NM_013451.4(MYOF):c.4603G>A (p.Val1535Met)	MYOF (V1535M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3297992	NM_013451.4(MYOF):c.4589C>T (p.Pro1530Leu)	MYOF (P1530L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781792	NM_013451.4(MYOF):c.4573C>T (p.Arg1525Trp)	MYOF (R1512W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3167803	NM_013451.4(MYOF):c.4568C>T (p.Ser1523Phe)	MYOF (S1523F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034965	NM_013451.4(MYOF):c.4482G>A (p.Leu1494=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GLikely benign
Select item 2377405	NM_013451.4(MYOF):c.4442A>G (p.Tyr1481Cys)	MYOF (Y1468C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298002	NM_013451.4(MYOF):c.4403G>C (p.Gly1468Ala)	MYOF (G1455A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393297	NM_013451.4(MYOF):c.4402G>A (p.Gly1468Arg)	MYOF (G1455R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786169	NM_013451.4(MYOF):c.4377T>C (p.Ala1459=)	MYOF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3297991	NM_013451.4(MYOF):c.4373A>G (p.Tyr1458Cys)	MYOF (Y1458C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335559	NM_013451.4(MYOF):c.4349T>C (p.Ile1450Thr)	MYOF (I1450T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640688	NM_013451.4(MYOF):c.4311A>G (p.Pro1437=)	MYOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043658	NM_013451.4(MYOF):c.4237C>G (p.Pro1413Ala)	MYOF (P1400A +1 more)	Single nucleotide variant (missense variant)	MYOF-related disorder	GLikely benign
Select item 2486741	NM_013451.4(MYOF):c.4223A>G (p.Lys1408Arg)	MYOF (K1408R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640689	NM_013451.4(MYOF):c.4200T>A (p.Phe1400Leu)	MYOF (F1387L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2535348	NM_013451.4(MYOF):c.4196G>A (p.Arg1399His)	MYOF (R1399H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481206	NM_013451.4(MYOF):c.4135G>A (p.Asp1379Asn)	MYOF (D1366N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038955	NM_013451.4(MYOF):c.4015G>A (p.Glu1339Lys)	MYOF (E1326K +1 more)	Single nucleotide variant (missense variant)	MYOF-related disorder	GLikely benign
Select item 2609761	NM_013451.4(MYOF):c.3998G>A (p.Cys1333Tyr)	MYOF (C1320Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234145	NM_013451.4(MYOF):c.3986T>C (p.Leu1329Pro)	MYOF (L1329P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297999	NM_013451.4(MYOF):c.3971T>C (p.Ile1324Thr)	MYOF (I1324T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298004	NM_013451.4(MYOF):c.3946A>G (p.Met1316Val)	MYOF (M1303V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043329	NM_013451.4(MYOF):c.3922-10G>A	MYOF	Single nucleotide variant (intron variant)	MYOF-related disorder	GLikely benign
Select item 3167771	NM_013451.4(MYOF):c.3862C>T (p.Pro1288Ser)	MYOF (P1275S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600258	NM_013451.4(MYOF):c.3851C>A (p.Pro1284His)	MYOF (P1284H +1 more)	Single nucleotide variant (missense variant)	MYOF-related disorder +1 more	GUncertain significance
Select item 776527	NM_013451.4(MYOF):c.3822+7T>C	MYOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2551863	NM_013451.4(MYOF):c.3755C>T (p.Pro1252Leu)	MYOF (P1252L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221931	NM_013451.4(MYOF):c.3751C>T (p.His1251Tyr)	MYOF (H1238Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167764	NM_013451.4(MYOF):c.3743T>G (p.Leu1248Arg)	MYOF (L1235R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297996	NM_013451.4(MYOF):c.3727G>A (p.Asp1243Asn)	MYOF (D1230N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167761	NM_013451.4(MYOF):c.3725T>C (p.Met1242Thr)	MYOF (M1229T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043909	NM_013451.4(MYOF):c.3697T>A (p.Ser1233Thr)	MYOF (S1220T +1 more)	Single nucleotide variant (missense variant)	MYOF-related disorder	GLikely benign
Select item 2616182	NM_013451.4(MYOF):c.3688A>G (p.Ser1230Gly)	MYOF (S1217G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478135	NM_013451.4(MYOF):c.3578A>G (p.Asp1193Gly)	MYOF (D1180G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711263	NM_013451.4(MYOF):c.3546G>A (p.Leu1182=)	MYOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035327	NM_013451.4(MYOF):c.3544C>T (p.Leu1182=)	MYOF	Single nucleotide variant (synonymous variant)	MYOF-related disorder	GLikely benign
Select item 2640690	NM_013451.4(MYOF):c.3511C>T (p.Arg1171Trp)	MYOF (R1158W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2555453	NM_013451.4(MYOF):c.3511C>G (p.Arg1171Gly)	MYOF (R1171G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167753	NM_013451.4(MYOF):c.3425G>A (p.Arg1142His)	MYOF (R1129H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167750	NM_013451.4(MYOF):c.3419A>G (p.His1140Arg)	MYOF (H1127R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776528	NM_013451.4(MYOF):c.3406G>A (p.Val1136Ile)	MYOF (V1123I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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