"Center for Human Genetics, University of Leuven"[submitter] AND "TTN" - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374145	NM_001267550.2(TTN):c.103360del (p.Glu34454fs)	TTN, TTN-AS1 (E25514fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype +12 more	GConflicting classifications of pathogenicity
Select item 813965	NM_001267550.2(TTN):c.101789del (p.Leu33930fs)	TTN, TTN-AS1 (L24865fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GPathogenic/Likely pathogenic
Select item 1068313	NM_001267550.2(TTN):c.101208G>A (p.Trp33736Ter)	TTN, TTN-AS1 (W24671* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 47599	NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)	TTN, TTN-AS1 (R23702fs +4 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype +6 more	GPathogenic/Likely pathogenic
Select item 1809794	NM_001267550.2(TTN):c.94805_94806del (p.Pro31602fs)	TTN, TTN-AS1 (P22537fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 1809793	NM_001267550.2(TTN):c.93974C>A (p.Ser31325Ter)	TTN, TTN-AS1 (S22260* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 223353	NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)	TTN, TTN-AS1 (N28004fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 451748	NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)	TTN, TTN-AS1 (E28483* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GPathogenic/Likely pathogenic
Select item 1809792	NM_001267550.2(TTN):c.83575_83579del (p.Lys27859fs)	TTN-AS1, TTN (K18794fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809791	NM_001267550.2(TTN):c.81936_81937delinsAT (p.Asp27312_Gly27313delinsGluTer)	TTN, TTN-AS1	Indel (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 405145	NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter)	LOC126806422, TTN +1 more (R23351* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 1809790	NM_001267550.2(TTN):c.68737G>T (p.Glu22913Ter)	TTN, TTN-AS1 (E13848* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809789	NM_001267550.2(TTN):c.67900G>T (p.Gly22634Ter)	LOC126806423, TTN +1 more (G13569* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809788	NM_001267550.2(TTN):c.67302T>G (p.Tyr22434Ter)	TTN, TTN-AS1 (Y13369* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809787	NM_001267550.2(TTN):c.67157_67161dup (p.Asn22388delinsSerTer)	TTN-AS1, TTN	Duplication (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809786	NM_001267550.2(TTN):c.62581_62584dup (p.Leu20862fs)	TTN, TTN-AS1 (L11797fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 223288	NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter)	TTN, TTN-AS1 (R20311* +5 more)	Single nucleotide variant (nonsense)	Cardiomyopathy +5 more	GLikely pathogenic
Select item 1809785	NM_001267550.2(TTN):c.57297del (p.Asp19100fs)	TTN, TTN-AS1 (D10035fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809784	NM_001267550.2(TTN):c.56145dup (p.Leu18716fs)	TTN-AS1, TTN (L16148fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809783	NM_001267550.2(TTN):c.52769G>A (p.Trp17590Ter)	LOC126806425, TTN +1 more (W15022* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1299910	NM_001267550.2(TTN):c.52334_52335del (p.Val17445fs)	TTN, TTN-AS1 (V14877fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 405082	NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter)	TTN, TTN-AS1 (R17341* +5 more)	Single nucleotide variant (nonsense)	Centronuclear myopathy +3 more	GLikely pathogenic
Select item 202384	NM_001267550.2(TTN):c.51436+1G>A	TTN-AS1, TTN	Single nucleotide variant (splice donor variant)	Primary dilated cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 1809799	NM_001267550.2(TTN):c.50533del (p.Ser16845fs)	TTN, TTN-AS1 (S14277fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809798	NM_001267550.2(TTN):c.50467_50468del (p.Gln16823fs)	TTN, TTN-AS1 (Q14255fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 1061173	NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter)	TTN, TTN-AS1 (R12967* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +3 more	GLikely pathogenic
Select item 1809797	NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter)	TTN (E4215* +4 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 1065191	NM_001267550.2(TTN):c.13592C>G (p.Ser4531Ter)	TTN (S4168* +4 more)	Single nucleotide variant (nonsense +1 more)	Primary dilated cardiomyopathy	GPathogenic
Select item 1333835	NM_001267550.2(TTN):c.13115del (p.Val4372fs)	TTN (V4009fs +4 more)	Deletion (frameshift variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely pathogenic
Select item 1809796	NM_001267550.2(TTN):c.12645del (p.Gln4215fs)	TTN (Q3852fs +4 more)	Deletion (frameshift variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1809795	NM_001267550.2(TTN):c.12057dup (p.Ser4020fs)	TTN (S3657fs +4 more)	Duplication (frameshift variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 656793	NM_001267550.2(TTN):c.11444del (p.Lys3815fs)	TTN (K3452fs +4 more)	Deletion (frameshift variant +1 more)	Primary dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity

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Items: 32