"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47074	NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)	LOC126806425, TTN +1 more (I17731T +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +7 more	GBenign/Likely benign
Select item 202708	NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)	LOC126806425, TTN +1 more (I16079T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GConflicting classifications of pathogenicity
Select item 47066	NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)	LOC126806425, TTN +1 more (R17618C +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +10 more	GConflicting classifications of pathogenicity
Select item 137796	NM_001267550.2(TTN):c.52706-17A>G	LOC126806425, TTN +1 more	Single nucleotide variant (intron variant)	Tibial muscular dystrophy +6 more	GBenign
Select item 1328196	NM_001267550.2(TTN):c.52592T>C (p.Val17531Ala)	LOC126806425, TTN +1 more (V14963A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96294	NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)	LOC126806425, TTN +1 more (N17512K +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity

ClinVar