"Genetics and Genomics Program, Sidra Medicine"[submitter] AND "TTN-AS - ClinVar

Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978741	NM_001267550.2(TTN):c.107696T>C (p.Ile35899Thr)	TTN, TTN-AS1 (I26834T +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 47720	NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)	TTN-AS1, TTN (M35859T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 978730	NM_001267550.2(TTN):c.104971A>G (p.Thr34991Ala)	TTN, TTN-AS1 (T25926A +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GUncertain significance
Select item 282653	NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe)	TTN, TTN-AS1 (L32215F +5 more)	Single nucleotide variant (missense variant)	not specified +9 more	GBenign/Likely benign
Select item 978756	NM_001267550.2(TTN):c.103540G>A (p.Val34514Ile)	TTN, TTN-AS1 (V25449I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 47656	NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)	TTN, TTN-AS1 (K34293E +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 47654	NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)	TTN, TTN-AS1 (R34246H +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 694569	NM_001267550.2(TTN):c.100603G>A (p.Glu33535Lys)	TTN, TTN-AS1 (E24470K +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 467706	NM_001267550.2(TTN):c.98758C>T (p.Arg32920Trp)	TTN, TTN-AS1 (R32920W +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 165682	NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)	TTN-AS1, TTN (D30254G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 47598	NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)	TTN, TTN-AS1 (A32765G +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 47589	NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)	TTN, TTN-AS1 (R32587P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 978768	NM_001267550.2(TTN):c.96613G>A (p.Val32205Met)	LOC126806421, TTN +1 more (V23140M +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 165716	NM_001267550.2(TTN):c.94748G>A (p.Arg31583His)	TTN-AS1, TTN (R29015H +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 179810	NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys)	TTN, TTN-AS1 (I28359K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 202990	NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)	TTN, TTN-AS1 (N29259S +5 more)	Single nucleotide variant (missense variant)	not specified +12 more	GConflicting classifications of pathogenicity
Select item 638392	NM_001267550.2(TTN):c.91363G>A (p.Val30455Met)	TTN, TTN-AS1 (V30455M +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 943903	NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs)	TTN, TTN-AS1 (R21426fs +5 more)	Microsatellite (frameshift variant)	Primary dilated cardiomyopathy +3 more	GLikely pathogenic
Select item 202971	NM_001267550.2(TTN):c.90913T>C (p.Tyr30305His)	TTN, TTN-AS1 (Y28664H +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 694543	NM_001267550.2(TTN):c.90468G>T (p.Lys30156Asn)	TTN, TTN-AS1 (K21091N +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 96314	NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)	TTN, TTN-AS1 (V27228M +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +17 more	GConflicting classifications of pathogenicity
Select item 192146	NM_001267550.2(TTN):c.88733G>A (p.Arg29578His)	TTN, TTN-AS1 (R27010H +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 196150	NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)	TTN, TTN-AS1 (G29562D +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 47464	NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)	TTN-AS1, TTN (P29138T +5 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 694570	NM_001267550.2(TTN):c.87157A>G (p.Thr29053Ala)	TTN, TTN-AS1 (T19988A +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 264316	NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg)	TTN-AS1, TTN (C19927R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 535366	NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu)	TTN, TTN-AS1 (F27758L +5 more)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 1 +5 more	GConflicting classifications of pathogenicity
Select item 519031	NM_001267550.2(TTN):c.81809T>C (p.Ile27270Thr)	TTN, TTN-AS1 (I18205T +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 592738	NM_001267550.2(TTN):c.81036G>T (p.Lys27012Asn)	TTN, TTN-AS1 (K27012N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 179002	NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)	TTN, TTN-AS1 (T24385M +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 192152	NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala)	TTN, TTN-AS1 (T23970A +5 more)	Single nucleotide variant (missense variant)	not specified +9 more	GBenign/Likely benign
Select item 283480	NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr)	TTN, TTN-AS1 (I24382T +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 694544	NM_001267550.2(TTN):c.75296C>A (p.Ala25099Glu)	TTN, TTN-AS1 (A16034E +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 47335	NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp)	TTN, TTN-AS1 (R25012W +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 165840	NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)	TTN-AS1, TTN (T22299del +5 more)	Microsatellite (inframe_deletion)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 47328	NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)	TTN, TTN-AS1 (N24843D +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GConflicting classifications of pathogenicity
Select item 978752	NM_001267550.2(TTN):c.74468C>G (p.Ala24823Gly)	TTN, TTN-AS1 (A15758G +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 694571	NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs)	TTN, TTN-AS1 (V15546fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy +2 more	GLikely pathogenic
Select item 694545	NM_001267550.2(TTN):c.72856G>T (p.Gly24286Ter)	TTN, TTN-AS1 (G15221* +5 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy	GPathogenic
Select item 47303	NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)	TTN, TTN-AS1 (V23961I +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 287388	NM_001267550.2(TTN):c.71348G>A (p.Arg23783His)	TTN-AS1, TTN (R23783H +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 694572	NM_001267550.2(TTN):c.70274G>C (p.Ser23425Thr)	LOC126806422, TTN +1 more (S14360T +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 47277	NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)	LOC126806422, TTN +1 more (G23274D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 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)	Dilated cardiomyopathy 1G +13 more	GConflicting classifications of pathogenicity
Select item 47268	NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro)	TTN, TTN-AS1 (A22820P +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 47254	NM_001267550.2(TTN):c.67571G>A (p.Ser22524Asn)	LOC126806423, TTN +1 more (S22524N +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3358887	NM_001267550.2(TTN):c.67271A>G (p.Tyr22424Cys)	TTN, TTN-AS1 (Y13359C +5 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	GUncertain significance
Select item 978758	NM_001267550.2(TTN):c.66847G>A (p.Val22283Ile)	TTN, TTN-AS1 (V13218I +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 892727	NM_001267550.2(TTN):c.66580G>A (p.Glu22194Lys)	TTN, TTN-AS1 (E13254K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 191136	NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp)	TTN, TTN-AS1 (R22095W +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 179042	NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)	TTN, TTN-AS1 (I19342T +5 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy +9 more	GConflicting classifications of pathogenicity
Select item 178200	NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu)	TTN, TTN-AS1 (P19277L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 808965	NM_001267550.2(TTN):c.65144G>A (p.Arg21715Gln)	TTN, TTN-AS1 (R12842Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 179044	NM_001267550.2(TTN):c.63578G>A (p.Arg21193His)	TTN, TTN-AS1 (R18625H +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 694573	NM_001267550.2(TTN):c.63571C>A (p.Pro21191Thr)	TTN, TTN-AS1 (P12126T +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 178202	NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)	TTN-AS1, TTN (A18579T +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +10 more	GConflicting classifications of pathogenicity
Select item 202766	NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val)	TTN, TTN-AS1 (F19358V +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 694546	NM_001267550.2(TTN):c.62044A>G (p.Lys20682Glu)	TTN, TTN-AS1 (K11617E +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +6 more	GUncertain significance
Select item 978765	NM_001267550.2(TTN):c.60367G>A (p.Glu20123Lys)	TTN, TTN-AS1 (E11058K +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 978753	NM_001267550.2(TTN):c.59920C>A (p.Pro19974Thr)	LOC126806424, TTN +1 more (P10909T +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 592799	NM_001267550.2(TTN):c.59875C>T (p.Arg19959Cys)	LOC126806424, TTN +1 more (R17391C +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 238813	NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp)	LOC126806424, TTN +1 more (G19801D +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 694547	NM_001267550.2(TTN):c.56974C>T (p.Pro18992Ser)	TTN, TTN-AS1 (P10052S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 191938	NM_001267550.2(TTN):c.56686G>A (p.Val18896Met)	TTN, TTN-AS1 (V16328M +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 694574	NM_001267550.2(TTN):c.55679G>A (p.Gly18560Asp)	TTN-AS1, TTN (G15992D +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 694575	NM_001267550.2(TTN):c.54327del (p.Lys18110fs)	TTN, TTN-AS1 (K15542fs +5 more)	Deletion (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 694576	NM_001267550.2(TTN):c.54316G>A (p.Asp18106Asn)	TTN, TTN-AS1 (D15538N +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 47083	NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys)	TTN, TTN-AS1 (R18050C +5 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +9 more	GConflicting classifications of pathogenicity
Select item 703110	NM_001267550.2(TTN):c.53156T>C (p.Val17719Ala)	LOC126806425, TTN +1 more (V17719A +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 202678	NM_001267550.2(TTN):c.49814T>G (p.Val16605Gly)	TTN, TTN-AS1 (V14964G +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 281858	NM_001267550.2(TTN):c.49000G>A (p.Val16334Met)	LOC126806426, TTN +1 more (V14693M +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 47461	NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)	TTN-AS1, TTN (R2654K +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +8 more	GConflicting classifications of pathogenicity

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Items: 72