"3billion"[submitter] AND "TTN"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 202529	NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)	TTN, TTN-AS1 (Q34238* +5 more)	Single nucleotide variant (nonsense)	Early-onset myopathy with fatal cardiomyopathy +14 more	GConflicting classifications of pathogenicity
Select item 2572411	NM_001267550.2(TTN):c.107153dup (p.Asn35718fs)	TTN, TTN-AS1 (N26653fs +5 more)	Duplication (frameshift variant)	Early-onset myopathy with fatal cardiomyopathy	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 132133	NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)	TTN, TTN-AS1 (C31712R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GPathogenic/Likely pathogenic
Select item 263764	NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)	TTN, TTN-AS1 (R27105* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 222861	NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)	TTN, TTN-AS1 (R26562* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 1687457	NM_001267550.2(TTN):c.74767dup (p.Asp24923fs)	TTN, TTN-AS1 (D15858fs +5 more)	Duplication (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 47301	NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)	TTN, TTN-AS1 (R23868* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +10 more	GPathogenic/Likely pathogenic
Select item 2444266	NM_001267550.2(TTN):c.63390_63393del (p.Phe21130fs)	TTN, TTN-AS1 (F12065fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2444070	NM_001267550.2(TTN):c.55578G>A (p.Trp18526Ter)	TTN-AS1, TTN (W15958* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 940605	NM_001267550.2(TTN):c.54000G>A (p.Trp18000Ter)	TTN, TTN-AS1 (W18000* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GPathogenic/Likely pathogenic
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 2444140	NM_001267550.2(TTN):c.3972G>C (p.Trp1324Cys)	LOC101927055, TTN (W1278C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2572447	NM_001267550.2(TTN):c.3425dup (p.Ile1143fs)	TTN (I1097fs +1 more)	Duplication (frameshift variant)	Early-onset myopathy with fatal cardiomyopathy	GLikely pathogenic