"Institute of Human Genetics, Cologne University"[submitter] AND "TTN- - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 871690	NM_001267550.2(TTN):c.105520del (p.Arg35174fs)	LOC129935184, TTN +1 more (R26234fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GPathogenic
Select item 2683906	NM_001267550.2(TTN):c.105296_105297del (p.Ser35099fs)	TTN, TTN-AS1 (S26034fs +5 more)	Microsatellite (frameshift variant)	Early-onset myopathy with fatal cardiomyopathy	GLikely pathogenic
Select item 2664319	NM_001267550.2(TTN):c.101835C>A (p.Ile33945=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 9	GLikely benign
Select item 983261	NM_001267550.2(TTN):c.98515_98568del (p.Pro32839_Val32856del)	TTN, TTN-AS1	Deletion (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GLikely pathogenic
Select item 2501693	NM_001267550.2(TTN):c.95237A>G (p.Glu31746Gly)	TTN, TTN-AS1 (E22681G +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3024182	NM_001267550.2(TTN):c.80504del (p.Val26835fs)	TTN, TTN-AS1 (V17770fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2501694	NM_001267550.2(TTN):c.75820_75823del (p.Glu25274fs)	TTN, TTN-AS1 (E16209fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic

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