"Klaassen Lab, Charite University Medicine Berlin"[submitter] AND "TTN - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 640886	NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)	TTN, TTN-AS1 (R34121* +5 more)	Single nucleotide variant (nonsense)	Left ventricular noncompaction cardiomyopathy +3 more	GLikely pathogenic
Select item 374145	NM_001267550.2(TTN):c.103360del (p.Glu34454fs)	TTN, TTN-AS1 (E25514fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype +12 more	GConflicting classifications of pathogenicity
Select item 691839	NM_001267550.2(TTN):c.85891del (p.Ala28631fs)	TTN, TTN-AS1 (A19691fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 651090	NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter)	TTN, TTN-AS1 (Q21986* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 691834	NM_001267550.2(TTN):c.68329+2_68329+3insTT	LOC126806423, TTN +1 more	Insertion (splice donor variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 223314	NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)	TTN, TTN-AS1 (R21201* +5 more)	Single nucleotide variant (nonsense)	Early-onset myopathy with fatal cardiomyopathy +10 more	GPathogenic/Likely pathogenic
Select item 691815	NM_001267550.2(TTN):c.39709+1G>T	TTN	Single nucleotide variant (intron variant +1 more)	Familial restrictive cardiomyopathy	GUncertain significance
Select item 635051	NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs)	TTN (E8630fs +2 more)	Microsatellite (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GPathogenic/Likely pathogenic
Select item 691826	NM_001267550.2(TTN):c.25064-4A>G	TTN	Single nucleotide variant (intron variant)	Familial restrictive cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 202501	NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)	LOC101927055, TTN (M1529fs +1 more)	Microsatellite (frameshift variant +1 more)	Primary dilated cardiomyopathy +11 more	GConflicting classifications of pathogenicity
Select item 503658	NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter)	LOC101927055, TTN (R1572* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified +2 more	GConflicting classifications of pathogenicity