List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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

Total variants: 83

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.22590+2T>C	rs200449517	0.00009
NM_005262.3(GFER):c.580C>T (p.Arg194Cys)	rs780851934	0.00003
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys)	rs752384050	0.00002
NM_001267550.2(TTN):c.10303+2T>C	rs371596417	0.00001
NM_001267550.2(TTN):c.67348+1G>A	rs758279518	0.00001
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)	rs545954490	0.00001
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter)	rs886055237	0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter)	rs869312121	0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)	rs9809219	0.00001
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys)	rs1302547655	0.00001
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter)	rs1304140510	0.00001
NM_198721.4(COL25A1):c.672+1G>A	rs759316372	0.00001
NM_213599.3(ANO5):c.139-1del	rs868484837	0.00001
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)	rs587783766
NM_000426.4(LAMA2):c.1207-1G>A
NM_000426.4(LAMA2):c.8244+3_8244+6del	rs746678525
NM_000540.3(RYR1):c.14504G>A (p.Gly4835Glu)
NM_001100.4(ACTA1):c.1058C>T (p.Thr353Ile)
NM_001100.4(ACTA1):c.355G>C (p.Glu119Gln)
NM_001164508.2(NEB):c.23742+1G>A
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs)	rs794729367
NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter)	rs1575283255
NM_001267550.2(TTN):c.103899_103903dup (p.Ala34635fs)
NM_001267550.2(TTN):c.13174A>T (p.Arg4392Ter)
NM_001267550.2(TTN):c.14056del (p.Thr4686fs)	rs869312104
NM_001267550.2(TTN):c.14089dup (p.Arg4697fs)
NM_001267550.2(TTN):c.3351dup (p.Ser1118fs)	rs2092847994
NM_001267550.2(TTN):c.37193del (p.Pro12398fs)
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter)	rs869312043
NM_001267550.2(TTN):c.43727_43728del (p.Glu14576fs)	rs794729316
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter)	rs770767998
NM_001267550.2(TTN):c.45567C>G (p.Tyr15189Ter)
NM_001267550.2(TTN):c.4607C>T (p.Ala1536Val)
NM_001267550.2(TTN):c.47142_47143del (p.Cys15714_Glu15715delinsTer)	rs869312107
NM_001267550.2(TTN):c.47802_47803dup (p.Ser15935fs)
NM_001267550.2(TTN):c.47875+1G>A	rs869312047
NM_001267550.2(TTN):c.48639-2A>C
NM_001267550.2(TTN):c.49997dup (p.Asn16666fs)
NM_001267550.2(TTN):c.50110_50111del (p.Thr16704fs)
NM_001267550.2(TTN):c.50353A>T (p.Arg16785Ter)
NM_001267550.2(TTN):c.51739+1G>C	rs727504799
NM_001267550.2(TTN):c.52705+1G>A
NM_001267550.2(TTN):c.54112del (p.Glu18038fs)	rs794729325
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter)	rs2051361827
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter)	rs1553649171
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs)	rs752948913
NM_001267550.2(TTN):c.59926+2T>C
NM_001267550.2(TTN):c.60407_60410dup (p.Ile20138fs)
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter)	rs869312112
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)	rs876657666
NM_001267550.2(TTN):c.64245G>A (p.Trp21415Ter)
NM_001267550.2(TTN):c.67491G>A (p.Trp22497Ter)
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter)	rs1213930919
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter)	rs794729382
NM_001267550.2(TTN):c.78340_78349del (p.Tyr26114fs)
NM_001267550.2(TTN):c.80922del (p.Pro26975fs)
NM_001267550.2(TTN):c.84586_84589del (p.Arg28196fs)	rs1703664543
NM_001267550.2(TTN):c.86190_86191insTAAAAAAAAAG (p.Val28731Ter)
NM_001267550.2(TTN):c.86424_86425del (p.Ser28809fs)
NM_001267550.2(TTN):c.87716del (p.Gly29239fs)	rs869312028
NM_001267550.2(TTN):c.87814del (p.Tyr29272fs)
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)	rs886038916
NM_001267550.2(TTN):c.90085del (p.Glu30029fs)
NM_001267550.2(TTN):c.92248_92260del (p.Glu30750fs)
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)	rs1064792872
NM_004006.3(DMD):c.2623-3C>G	rs863224988
NM_004006.3(DMD):c.6117+1G>T
NM_004168.4(SDHA):c.1244C>T (p.Thr415Ile)
NM_004369.4(COL6A3):c.6139G>A (p.Gly2047Ser)
NM_004370.6(COL12A1):c.6067+1G>A	rs1766265062
NM_004370.6(COL12A1):c.8348G>A (p.Gly2783Asp)
NM_004370.6(COL12A1):c.9103C>T (p.Arg3035Ter)
NM_004415.4(DSP):c.4473_4495dup (p.Cys1499fs)
NM_005476.7(GNE):c.1634-1G>T
NM_006009.4(TUBA1A):c.467G>A (p.Arg156His)	rs1942174390
NM_018684.4(ZC4H2):c.398+1_398+3del
NM_024301.5(FKRP):c.526C>G (p.Arg176Gly)
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
NM_078470.6(COX15):c.287G>T (p.Gly96Val)	rs771992107
NM_078470.6(COX15):c.839T>C (p.Phe280Ser)
NM_152393.4(KLHL40):c.1250T>A (p.Val417Asp)
NM_198721.4(COL25A1):c.672+1del	rs2125927453

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