"Molecular Genetics, Royal Melbourne Hospital"[submitter] AND "TTN"[ge - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47675	NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)	TTN, TTN-AS1 (R34859Q +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +10 more	GBenign/Likely benign
Select item 47633	NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)	TTN, TTN-AS1 (R33738C +5 more)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 625156	NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)	TTN, TTN-AS1 (R33703* +5 more)	Single nucleotide variant (nonsense)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GPathogenic/Likely pathogenic
Select item 1489748	NM_001267550.2(TTN):c.97647_97663dup (p.Thr32555delinsLysIleLysTyrLeuTer)	TTN, TTN-AS1	Duplication (nonsense)	Primary dilated cardiomyopathy +3 more	GLikely pathogenic
Select item 282402	NM_001267550.2(TTN):c.95434G>A (p.Gly31812Ser)	TTN, TTN-AS1 (G31812S +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 47520	NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)	TTN, TTN-AS1 (P30726S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +14 more	GConflicting classifications of pathogenicity
Select item 47501	NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)	TTN, TTN-AS1 (C30276G +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +10 more	GConflicting classifications of pathogenicity
Select item 47464	NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)	TTN, TTN-AS1 (P29138T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 1678568	NM_001267550.2(TTN):c.72688G>T (p.Glu24230Ter)	TTN, TTN-AS1 (E15165* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GLikely pathogenic
Select item 47308	NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 47265	NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)	TTN, TTN-AS1 (P23044S +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +13 more	GConflicting classifications of pathogenicity
Select item 3068605	NM_001267550.2(TTN):c.65696_65706del (p.Lys21899fs)	TTN, TTN-AS1 (K12834fs +5 more)	Deletion (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3068659	NM_001267550.2(TTN):c.60407_60410dup (p.Ile20138fs)	TTN, TTN-AS1 (I11073fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 47138	NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val)	TTN, TTN-AS1 (I19562V +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +6 more	GUncertain significance
Select item 3068692	NM_001267550.2(TTN):c.52848del (p.Trp17616fs)	LOC126806425, TTN +1 more (W15048fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1789509	NM_001267550.2(TTN):c.50375_50378del (p.Glu16792fs)	TTN, TTN-AS1 (E7727fs +5 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GPathogenic/Likely pathogenic
Select item 2002987	NM_001267550.2(TTN):c.45724A>T (p.Arg15242Ter)	TTN (R6302* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GConflicting classifications of pathogenicity
Select item 46976	NM_001267550.2(TTN):c.44364del (p.Tyr14789fs)	TTN (Y14789fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GConflicting classifications of pathogenicity
Select item 223369	NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter)	TTN (R14762* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 46599	NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)	TTN (V5060L +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +10 more	GConflicting classifications of pathogenicity
Select item 46579	NM_001267550.2(TTN):c.10114+5G>A	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 3068670	NM_001267550.2(TTN):c.9432C>T (p.Gly3144=)	TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 47256	NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)	TTN (R1998H +1 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 3068606	NM_001267550.2(TTN):c.3574C>T (p.Gln1192Ter)	TTN (Q1146* +1 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GPathogenic
Select item 46597	NM_001267550.2(TTN):c.1137A>G (p.Arg379=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GConflicting classifications of pathogenicity

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Items: 25