"Clinical Genomics Laboratory, Washington University in St. Louis"[sub - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203108	NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile)	TTN, TTN-AS1 (V34002I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 3236597	NM_001267550.2(TTN):c.101376T>G (p.Tyr33792Ter)	TTN, TTN-AS1 (Y24727* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3237414	NM_001267550.2(TTN):c.100994G>A (p.Gly33665Asp)	TTN, TTN-AS1 (G24600D +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9	GUncertain significance
Select item 1755250	NM_001267550.2(TTN):c.94747C>T (p.Arg31583Cys)	TTN, TTN-AS1 (R22518C +5 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2672183	NM_001267550.2(TTN):c.94648G>A (p.Glu31550Lys)	TTN, TTN-AS1 (E22485K +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 332727	NM_001267550.2(TTN):c.92506A>C (p.Thr30836Pro)	TTN, TTN-AS1 (T30836P +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 3236596	NM_001267550.2(TTN):c.69291C>A (p.Cys23097Ter)	TTN, TTN-AS1 (C14032* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 332806	NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg)	TTN, TTN-AS1 (W19236R +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 9 +6 more	GConflicting classifications of pathogenicity
Select item 228301	NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)	TTN, TTN-AS1 (E12098fs +5 more)	Duplication (frameshift variant)	Cardiovascular phenotype +5 more	GLikely pathogenic
Select item 2672152	NM_001267550.2(TTN):c.29863C>T (p.Arg9955Ter)	TTN (R8711* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +3 more	GLikely pathogenic
Select item 626695	NM_001267550.2(TTN):c.16391G>C (p.Gly5464Ala)	TTN (G5147A +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GConflicting classifications of pathogenicity