List of variants in gene TTN reported as likely pathogenic by Clinical Genetics, Academic Medical Center

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: 32

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.12016_12019dup (p.Gly4007fs)	rs1553940935	0.00001
NM_001267550.2(TTN):c.68484del (p.Lys22828fs)	rs1370805955	0.00001
NM_001267550.2(TTN):c.103132C>T (p.Gln34378Ter)	rs2154135182
NM_001267550.2(TTN):c.105234del (p.Val35079fs)	rs2154133474
NM_001267550.2(TTN):c.40603A>T (p.Lys13535Ter)	rs2154238618
NM_001267550.2(TTN):c.41329+1G>T	rs796238032
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter)	rs745926057
NM_001267550.2(TTN):c.44077del (p.Arg14693fs)	rs2154220127
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)	rs751502842
NM_001267550.2(TTN):c.5209G>T (p.Glu1737Ter)	rs2154346241
NM_001267550.2(TTN):c.52334_52335del (p.Val17445fs)	rs2055522786
NM_001267550.2(TTN):c.54339del (p.Glu18113fs)	rs72648929
NM_001267550.2(TTN):c.54648_54649dup (p.Ser18217fs)	rs2154194688
NM_001267550.2(TTN):c.6098del (p.Lys2033fs)	rs2154345845
NM_001267550.2(TTN):c.62767del (p.Thr20923fs)	rs2154183459
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter)	rs794729279
NM_001267550.2(TTN):c.64672+2T>C	rs2154180290
NM_001267550.2(TTN):c.66020_66021del (p.Ser22007fs)	rs2154178179
NM_001267550.2(TTN):c.66463+1G>T	rs1340087855
NM_001267550.2(TTN):c.77452G>T (p.Glu25818Ter)	rs748619096
NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter)	rs1131691944
NM_001267550.2(TTN):c.82309_82312dup (p.Asn27438delinsArgTer)	rs2154161683
NM_001267550.2(TTN):c.82895_82896del (p.Thr27632fs)	rs796267411
NM_001267550.2(TTN):c.84142dup (p.Ile28048fs)	rs2154160384
NM_001267550.2(TTN):c.84524G>A (p.Trp28175Ter)	rs2154159874
NM_001267550.2(TTN):c.86742_86745del (p.Tyr28915fs)	rs1415420768
NM_001267550.2(TTN):c.87165T>A (p.Tyr29055Ter)	rs756211633
NM_001267550.2(TTN):c.87782del (p.Pro29261fs)	rs2154155647
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter)	rs200503016
NM_001267550.2(TTN):c.9381C>A (p.Tyr3127Ter)	rs2154341420
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter)	rs1060500435
NM_001267550.2(TTN):c.97427dup (p.Thr32477fs)	rs2154142450

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