"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203102	NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)	LOC129935183, TTN +1 more (A33673T +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 332684	NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp)	LOC129935183, TTN +1 more (E35299D +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 167753	NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 202340	NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe)	LOC129935183, TTN +1 more (A26198F +4 more)	Indel (missense variant)	not provided +8 more	GBenign/Likely benign
Select item 47702	NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)	LOC129935183, TTN +1 more (A35263V +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +8 more	GBenign/Likely benign
Select item 47701	NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser)	LOC129935183, TTN +1 more (A35263S +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign

ClinVar