"Genetic Services Laboratory, University of Chicago"[submitter] AND "L - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 212471	NM_001267550.2(TTN):c.53213A>T (p.Asp17738Val)	LOC126806425, TTN +1 more (D15170V +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
Select item 47074	NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)	LOC126806425, TTN +1 more (I17731T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GBenign/Likely benign
Select item 47072	NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile)	LOC126806425, TTN +1 more (K17708I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47068	NM_001267550.2(TTN):c.52917T>C (p.Asp17639=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 47066	NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)	LOC126806425, TTN +1 more (R17618C +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +10 more	GConflicting classifications of pathogenicity
Select item 47065	NM_001267550.2(TTN):c.52821T>C (p.Asp17607=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign

ClinVar