"Suma Genomics"[submitter] AND "TTN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 595450	NM_001267550.2(TTN):c.107623_107626dup (p.Asn35876delinsIleTer)	TTN-AS1, TTN	Duplication (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GConflicting classifications of pathogenicity
Select item 1228376	NM_001267550.2(TTN):c.92877G>A (p.Trp30959Ter)	TTN, TTN-AS1 (W21894* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GPathogenic
Select item 1120211	NM_001267550.2(TTN):c.46455del (p.Pro15486fs)	TTN, TTN-AS1 (P12918fs +5 more)	Deletion (non-coding transcript variant +1 more)	Early-onset myopathy with fatal cardiomyopathy	GPathogenic
Select item 1334894	NM_001267550.2(TTN):c.25006T>C (p.Cys8336Arg)	TTN (C7092R +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1120210	NM_001267550.2(TTN):c.10115-1G>A	TTN	Single nucleotide variant (splice acceptor variant)	Early-onset myopathy with fatal cardiomyopathy	GPathogenic
Select item 282852	NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)	TTN (R3150* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GConflicting classifications of pathogenicity

ClinVar