List of variants reported as pathogenic for hereditary skeletal muscle disorder by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 79

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)	rs147764579	0.00016
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp)	rs764006338	0.00006
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)	rs144071404	0.00006
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	rs118192173	0.00005
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)	rs769580842	0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)	rs769345284	0.00003
NM_013382.7(POMT2):c.1006+1G>A	rs533916138	0.00003
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	rs193922803	0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His)	rs371675217	0.00001
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	rs121434544	0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)	rs773209126	0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)	rs200923373	0.00001
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp)	rs193922867	0.00001
NM_001077365.2(POMT1):c.280+1G>T	rs746823238	0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)	rs398123789	0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)	rs121908959	0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)	rs555445835	0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs)	rs786204430	0.00001
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter)	rs1419374180	0.00001
NM_001927.4(DES):c.757C>T (p.Gln253Ter)	rs1187516594	0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His)	rs121909335	0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)	rs199564797	0.00001
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)	rs397509417	0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)	rs57318642	0.00001
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)	rs796065318
NM_000070.3(CAPN3):c.801+1G>A	rs1459288402
NM_000231.3(SGCG):c.525del (p.Phe175fs)	rs786204786
NM_000252.3(MTM1):c.1261-10A>G	rs397518445
NM_000252.3(MTM1):c.679G>A (p.Val227Met)	rs587783850
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)	rs397516088
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)	rs397516089
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)	rs778760498
NM_000426.4(LAMA2):c.3924+2T>C	rs1554269966
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter)	rs1180309541
NM_000426.4(LAMA2):c.4688G>A (p.Trp1563Ter)	rs2114593621
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs)	rs886039482
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter)	rs766920075
NM_000540.3(RYR1):c.10453C>T (p.Gln3485Ter)	rs199895006
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)	rs63749869
NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter)	rs146514343
NM_001077365.2(POMT1):c.1175+3del	rs2131708682
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter)	rs369797361
NM_001100.4(ACTA1):c.593G>A (p.Arg198His)
NM_001100.4(ACTA1):c.773G>A (p.Arg258His)	rs1659953887
NM_001101426.4(CRPPA):c.790-1G>C	rs2128422954
NM_001130987.2(DYSF):c.167dup (p.Ile58fs)	rs863225020
NM_001164508.2(NEB):c.11806-1G>A	rs886041851
NM_001164508.2(NEB):c.16909-1G>A	rs2153806528
NM_001164508.2(NEB):c.20976del (p.Val6993fs)	rs1559680233
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)	rs763364977
NM_001267550.2(TTN):c.106160C>G (p.Ser35387Ter)	rs2154132755
NM_001267550.2(TTN):c.106375-2A>G	rs1553482872
NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs)	rs2154244761
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter)	rs2051361827
NM_001267550.2(TTN):c.92001G>A (p.Trp30667Ter)
NM_001849.4(COL6A2):c.1521+1G>A	rs2123646873
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)	rs5030730
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys)	rs397516881
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs)	rs751365374
NM_004369.4(COL6A3):c.7094del
NM_005876.5(SPEG):c.8839C>T (p.Arg2947Ter)	rs768300296
NM_006876.3(B4GAT1):c.1207G>T (p.Glu403Ter)	rs921785357
NM_013382.7(POMT2):c.924-2A>C	rs886044256
NM_017534.6(MYH2):c.4662+2T>G	rs1597448170
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln)	rs779162837
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs)	rs1553198611
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)	rs28937903
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)	rs398124395
NM_032806.6(POMGNT2):c.503T>C (p.Phe168Ser)	rs2125700641
NM_138638.5(CFL2):c.338del (p.Ser113fs)	rs1594784544
NM_139343.3(BIN1):c.1002+2T>C	rs1553458019
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	rs58932704
NM_170707.4(LMNA):c.148C>T (p.Arg50Cys)	rs59931416
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	rs61444459
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	rs59332535
NM_170707.4(LMNA):c.94_96del (p.Lys32del)	rs60872029
NM_198271.5(LMOD3):c.944_945del (p.Leu315fs)
NM_198721.4(COL25A1):c.1598del (p.Pro533fs)

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