"Loeys Lab, Universiteit Antwerpen"[submitter] AND "TTN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1065188	NM_001267550.2(TTN):c.83497G>T (p.Gly27833Ter)	TTN, TTN-AS1 (G18768* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GPathogenic
Select item 1065192	NM_001267550.2(TTN):c.80514del (p.Val26839fs)	TTN, TTN-AS1 (V17774fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GPathogenic
Select item 1065189	NM_001267550.2(TTN):c.69522T>G (p.Tyr23174Ter)	TTN, TTN-AS1 (Y14109* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GPathogenic
Select item 1065190	NM_001267550.2(TTN):c.53918del (p.Gly17973fs)	TTN, TTN-AS1 (G15405fs +5 more)	Deletion (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 655573	NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter)	TTN (R12240* +5 more)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
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

ClinVar