List of variants reported as likely pathogenic for centronuclear myopathy

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 94

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HGVS	dbSNP	gnomAD frequency
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp)	rs200865845	0.00011
NM_000540.3(RYR1):c.11590+1G>T	rs113928116	0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)	rs118192130	0.00001
NM_000540.3(RYR1):c.6823G>A (p.Val2275Met)	rs756847750	0.00001
NM_139343.3(BIN1):c.1461+1G>A	rs764951306	0.00001
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)	rs777176261	0.00001
NC_000023.10:g.(?_149761093)_(149767213_?)del
NC_000023.10:g.(?_149783042)_(149787632_?)del
NC_000023.10:g.(?_149818176)_(149818384_?)del
NC_000023.10:g.(?_149826274)_(149826520_?)del
NC_000023.10:g.(?_149826294)_(149826500_?)del
NC_000023.11:g.150649717_150649723del
NM_000252.3(MTM1):c.100del (p.Ala34fs)
NM_000252.3(MTM1):c.1011G>A (p.Trp337Ter)
NM_000252.3(MTM1):c.1022T>A (p.Leu341Ter)
NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg)	rs587783750
NM_000252.3(MTM1):c.1037G>A (p.Trp346Ter)	rs781939560
NM_000252.3(MTM1):c.1045_1046insCCCCT (p.His349fs)
NM_000252.3(MTM1):c.1057_1058insACGA (p.Val353fs)
NM_000252.3(MTM1):c.1132G>T (p.Gly378Ter)	rs587783755
NM_000252.3(MTM1):c.1133G>T (p.Gly378Val)	rs2040150416
NM_000252.3(MTM1):c.114del (p.Pro39fs)
NM_000252.3(MTM1):c.1153_1156delinsTGT (p.Leu385fs)
NM_000252.3(MTM1):c.1180G>C (p.Asp394His)	rs587783760
NM_000252.3(MTM1):c.1195_1199delinsTGC (p.Ser399fs)
NM_000252.3(MTM1):c.1201G>T (p.Glu401Ter)	rs2040152185
NM_000252.3(MTM1):c.1204G>A (p.Gly402Arg)	rs1569565525
NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp)	rs2040152678
NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys)	rs587783764
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val)	rs587783765
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)	rs587783766
NM_000252.3(MTM1):c.1260+5G>A	rs587783769
NM_000252.3(MTM1):c.1261-10A>G	rs397518445
NM_000252.3(MTM1):c.1261-2A>C	rs2148510791
NM_000252.3(MTM1):c.1307C>T (p.Pro436Leu)	rs587783774
NM_000252.3(MTM1):c.1319del (p.Gln440fs)
NM_000252.3(MTM1):c.1325T>A (p.Ile442Asn)	rs587783776
NM_000252.3(MTM1):c.1328A>C (p.Asp443Ala)	rs587783777
NM_000252.3(MTM1):c.1354-2A>T	rs781835307
NM_000252.3(MTM1):c.1372T>G (p.Phe458Val)
NM_000252.3(MTM1):c.1388T>C (p.Leu463Ser)	rs587783787
NM_000252.3(MTM1):c.1388T>G (p.Leu463Trp)	rs587783787
NM_000252.3(MTM1):c.1405C>G (p.His469Asp)
NM_000252.3(MTM1):c.1468-2A>G
NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter)
NM_000252.3(MTM1):c.302_303del (p.Ser101fs)
NM_000252.3(MTM1):c.326T>C (p.Leu109Pro)	rs2148456078
NM_000252.3(MTM1):c.342+4A>G	rs587783820
NM_000252.3(MTM1):c.343-1G>A	rs2148461695
NM_000252.3(MTM1):c.350_351del (p.Arg117fs)
NM_000252.3(MTM1):c.388A>T (p.Arg130Ter)	rs2039434309
NM_000252.3(MTM1):c.405_408delinsTT (p.Glu135fs)
NM_000252.3(MTM1):c.414_421dup (p.Ala141fs)
NM_000252.3(MTM1):c.444+2T>A
NM_000252.3(MTM1):c.487G>T (p.Gly163Ter)	rs2039802744
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser)	rs2148488364
NM_000252.3(MTM1):c.550A>T (p.Arg184Ter)
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys)	rs587783838
NM_000252.3(MTM1):c.592T>C (p.Tyr198His)	rs2039845128
NM_000252.3(MTM1):c.63+3A>T	rs587783844
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr)	rs587783848
NM_000252.3(MTM1):c.679-1G>A	rs672601324
NM_000252.3(MTM1):c.679-2A>C
NM_000252.3(MTM1):c.679G>A (p.Val227Met)	rs587783850
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)	rs398123274
NM_000252.3(MTM1):c.728G>A (p.Ser243Asn)	rs2039919583
NM_000252.3(MTM1):c.730_731del (p.Gln244fs)
NM_000252.3(MTM1):c.743G>T (p.Gly248Val)	rs587783853
NM_000252.3(MTM1):c.763A>T (p.Lys255Ter)
NM_000252.3(MTM1):c.805A>T (p.Lys269Ter)	rs2039921355
NM_000252.3(MTM1):c.838A>T (p.Arg280Ter)	rs2039922261
NM_000252.3(MTM1):c.921CTT[1] (p.Phe308del)	rs587783862
NM_000252.3(MTM1):c.925_926del (p.Leu309fs)
NM_000252.3(MTM1):c.935_936insACTGTCTC (p.His312fs)
NM_000252.3(MTM1):c.97G>T (p.Glu33Ter)	rs2038978870
NM_000540.3(RYR1):c.2044C>G (p.Arg682Gly)	rs776252106
NM_001005361.3(DNM2):c.1124T>A (p.Val375Glu)	rs587783594
NM_001005361.3(DNM2):c.1781G>A (p.Arg594Lys)
NM_001005361.3(DNM2):c.1840G>A (p.Asp614Asn)
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)	rs121909095
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg)	rs587783598
NM_001077525.3(MTMR14):c.199C>T (p.Arg67Ter)	rs754777692
NM_001100.4(ACTA1):c.443G>T (p.Gly148Val)
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs)	rs1553742630
NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer)	rs794729338
NM_005876.5(SPEG):c.2183del (p.Leu728fs)	rs1575065895
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter)	rs587777672
NM_005876.5(SPEG):c.7262_7280dup (p.Ala2428fs)
NM_005876.5(SPEG):c.7795G>T (p.Glu2599Ter)
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs)	rs1575201712
NM_139343.3(BIN1):c.1002+2T>C	rs1553458019
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter)	rs121909275
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys)	rs1249621033
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln)	rs267606681

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