List of variants reported as likely pathogenic for congenital myopathy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 74

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HGVS	dbSNP	gnomAD frequency
NM_018116.4(MSTO1):c.706G>C (p.Asp236His)	rs753488873	0.00013
NM_024854.5(PYROXD1):c.285+1G>A	rs369083786	0.00009
NM_001849.4(COL6A2):c.1970-9G>A	rs747900252	0.00008
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)	rs746538672	0.00005
NM_001164508.2(NEB):c.12018+1G>A	rs762278237	0.00003
NM_020451.3(SELENON):c.1010+1G>A	rs908682527	0.00003
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys)	rs368074297	0.00003
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)	rs763112609	0.00002
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)	rs118192130	0.00001
NM_000540.3(RYR1):c.3301G>A (p.Val1101Met)	rs145088074	0.00001
NM_000540.3(RYR1):c.46-1G>A	rs1238479593	0.00001
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)	rs756870293	0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs)	rs1490309743	0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs)	rs747662439	0.00001
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)	rs878854324	0.00001
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)	rs771941724	0.00001
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys)	rs150966634	0.00001
NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter)	rs794727976	0.00001
NM_020451.3(SELENON):c.1209dup (p.Lys404fs)	rs745715484	0.00001
NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser)	rs121908186	0.00001
NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter)	rs760063405	0.00001
NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp)	rs752156505	0.00001
NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp)	rs756927098	0.00001
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter)	rs960468382	0.00001
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter)	rs775713184	0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)	rs199564797	0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg)	rs776738184	0.00001
NM_000257.4(MYH7):c.5158-16C>G
NM_000257.4(MYH7):c.5655+1G>A
NM_000257.4(MYH7):c.5655+1G>C	rs1892079951
NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser)	rs1568593922
NM_000540.3(RYR1):c.14488T>C (p.Ser4830Pro)
NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser)	rs1568614042
NM_000540.3(RYR1):c.2682G>A (p.Pro894=)	rs919322708
NM_000540.3(RYR1):c.3178+587A>G
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=)	rs1234999215
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu)	rs267607180
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile)	rs1659978452
NM_001100.4(ACTA1):c.541del (p.Asp181fs)	rs759242559
NM_001100.4(ACTA1):c.581_589del (p.Ile194_Glu197delinsLys)	rs1659962077
NM_001103.4(ACTN2):c.2194_2226del (p.Ala732_Ile742del)	rs1572148914
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)	rs1212374733
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs)	rs1553552384
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)	rs794727136
NM_001164508.2(NEB):c.5343+5G>A	rs2154175371
NM_001164508.2(NEB):c.8697del (p.Lys2899fs)
NM_001164508.2(NEB):c.8889+1G>A	rs1553963960
NM_001267550.2(TTN):c.105854dup (p.Pro35286fs)
NM_001267550.2(TTN):c.107312_107315del (p.Lys35771fs)
NM_001267550.2(TTN):c.32274_32277del (p.Glu10759fs)
NM_001267550.2(TTN):c.40652del (p.Pro13551fs)
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs)	rs397517576
NM_001267550.2(TTN):c.47398_47402dup (p.Ser15802fs)
NM_001267550.2(TTN):c.59205del (p.Glu19735fs)	rs397517643
NM_001267550.2(TTN):c.89053A>T (p.Lys29685Ter)
NM_001267550.2(TTN):c.9189_9190del (p.His3063_Ile3064insTer)
NM_001848.3(COL6A1):c.904-39A>G	rs1569518138
NM_001849.4(COL6A2):c.855+1G>T	rs1057517988
NM_003283.6(TNNT1):c.192+2dup
NM_003283.6(TNNT1):c.74-67C>A
NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys)
NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs)	rs2106319784
NM_004370.6(COL12A1):c.5765G>A (p.Gly1922Glu)	rs1766404539
NM_005876.5(SPEG):c.2183del (p.Leu728fs)	rs1575065895
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs)	rs1575201712
NM_017534.6(MYH2):c.1313del (p.Met438fs)
NM_020451.3(SELENON):c.1011-1G>C	rs1333001112
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe)	rs767530943
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln)	rs779162837
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)	rs797045950
NM_020451.3(SELENON):c.863_864del (p.Val288fs)	rs1184282261
NM_024854.5(PYROXD1):c.892_895del (p.Val298fs)	rs757103085
NM_152263.4(TPM3):c.118-12G>A
NM_198271.5(LMOD3):c.723_733del (p.Asp242fs)	rs769824247

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