List of variants in gene TTN reported as likely pathogenic for Early-onset myopathy with fatal cardiomyopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)	rs727504198	0.00003
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)	rs1064793560	0.00001
NM_001267550.2(TTN):c.56648-1G>A	rs769912484	0.00001
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter)	rs768073446	0.00001
NC_000002.12:g.178617953_178617957dup	rs2470878323
NM_001267550.2(TTN):c.105296_105297del (p.Ser35099fs)	rs2468405341
NM_001267550.2(TTN):c.106698del (p.Ala35567fs)	rs2468309929
NM_001267550.2(TTN):c.107153dup (p.Asn35718fs)	rs2468294294
NM_001267550.2(TTN):c.107344C>T (p.Gln35782Ter)	rs2468281737
NM_001267550.2(TTN):c.11254+1G>C
NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter)	rs2082478614
NM_001267550.2(TTN):c.26028G>A (p.Trp8676Ter)	rs794729389
NM_001267550.2(TTN):c.28462+1G>T	rs2076520917
NM_001267550.2(TTN):c.3425dup (p.Ile1143fs)	rs2533252843
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg)	rs1554015228
NM_001267550.2(TTN):c.35851del (p.Arg11951fs)
NM_001267550.2(TTN):c.3729+1G>A	rs781562337
NM_001267550.2(TTN):c.38767A>T (p.Lys12923Ter)	rs750990843
NM_001267550.2(TTN):c.40652del (p.Pro13551fs)	rs2471803949
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter)	rs2060187635
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs)	rs397517576
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)	rs2470985275
NM_001267550.2(TTN):c.48396dup (p.Asn16133Ter)	rs2470760403
NM_001267550.2(TTN):c.56347+1G>A	rs1576251664
NM_001267550.2(TTN):c.83730G>A (p.Trp27910Ter)	rs2469726985
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)	rs878854428
NM_001267550.2(TTN):c.89053A>T (p.Lys29685Ter)	rs2469352999
NM_001267550.2(TTN):c.90841A>T (p.Arg30281Ter)	rs2469276072
NM_001267550.2(TTN):c.9703+1G>A	rs2532265927
NM_001267550.2(TTN):c.[62674G>A];[68984A>C]

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