"Centogene AG - the Rare Disease Company"[submitter] AND "TTN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333838	NM_001267550.2(TTN):c.82720C>T (p.Pro27574Ser)	TTN, TTN-AS1 (P18509S +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure	GUncertain significance
Select item 405128	NM_001267550.2(TTN):c.82019T>A (p.Ile27340Lys)	TTN, TTN-AS1 (I27340K +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +2 more	GUncertain significance
Select item 1333837	NM_001267550.2(TTN):c.38523del (p.Lys12841fs)	TTN (K12841fs)	Deletion (frameshift variant +1 more)	Hypertrophic cardiomyopathy 9	GUncertain significance
Select item 1329142	NM_001267550.2(TTN):c.34435G>C (p.Glu11479Gln)	TTN (E10206Q +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 1333836	NM_001267550.2(TTN):c.20392A>T (p.Lys6798Ter)	TTN (K5554* +2 more)	Single nucleotide variant (nonsense +1 more)	Hypertrophic cardiomyopathy 9	GLikely pathogenic
Select item 1333835	NM_001267550.2(TTN):c.13115del (p.Val4372fs)	TTN (V4009fs +4 more)	Deletion (frameshift variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely pathogenic
Select item 974779	NM_001267550.2(TTN):c.2224del (p.Ser742fs)	TTN (S696fs +1 more)	Deletion (frameshift variant)	Myopathy, myofibrillar, 9, with early respiratory failure	GLikely pathogenic

ClinVar