"Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 448767	NM_001267550.2(TTN):c.106375-2A>G	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G +1 more	GPathogenic/Likely pathogenic
Select item 242423	NM_001267550.2(TTN):c.55732+5G>C	TTN, TTN-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 800782	NM_001267550.2(TTN):c.43033C>T (p.Pro14345Ser)	TTN (P11777S +5 more)	Single nucleotide variant (missense variant)	TTN-related disorder	GUncertain significance
Select item 194146	NM_001267550.2(TTN):c.32471-1G>A	TTN	Single nucleotide variant (intron variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 992989	NM_001267550.2(TTN):c.28462+1G>T	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GConflicting classifications of pathogenicity
Select item 800911	NM_001267550.2(TTN):c.28174+1G>T	TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GLikely pathogenic

ClinVar