"Baylor Genetics"[submitter] AND "TTN-AS1"[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 38439	NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	TTN, TTN-AS1 (K27023fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GPathogenic
Select item 952359	NM_001267550.2(TTN):c.107348G>T (p.Cys35783Phe)	TTN, TTN-AS1 (C26718F +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +2 more	GUncertain significance
Select item 1030169	NM_001267550.2(TTN):c.107224-1G>C	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GPathogenic/Likely pathogenic
Select item 567990	NM_001267550.2(TTN):c.106801G>A (p.Glu35601Lys)	TTN, TTN-AS1 (E35601K +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +2 more	GUncertain significance
Select item 196649	NM_001267550.2(TTN):c.105680C>T (p.Ala35227Val)	LOC129935183, TTN +1 more (A35227V +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 180582	NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)	LOC129935184, TTN +1 more (S35172del +5 more)	Deletion (inframe_deletion)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 203088	NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met)	TTN, TTN-AS1 (T33352M +5 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 2 +3 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 864645	NM_001267550.2(TTN):c.101533T>C (p.Tyr33845His)	TTN, TTN-AS1 (Y24972H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 418978	NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)	TTN, TTN-AS1 (W31888* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 165664	NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)	TTN, TTN-AS1 (V30899G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 466681	NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys)	TTN-AS1, TTN (R33466C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 281829	NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr)	LOC126806420, TTN +1 more (A31667T +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1030168	NM_001267550.2(TTN):c.99787A>G (p.Thr33263Ala)	LOC126806420, TTN +1 more (T24323A +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure	GUncertain significance
Select item 2441645	NM_001267550.2(TTN):c.99667C>T (p.Arg33223Cys)	LOC126806420, TTN +1 more (R24158C +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early-onset myopathy with fatal cardiomyopathy	GUncertain significance
Select item 2441695	NM_001267550.2(TTN):c.99371T>C (p.Ile33124Thr)	TTN, TTN-AS1 (I24059T +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 2442126	NM_001267550.2(TTN):c.98989+2T>C	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 281787	NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly)	TTN, TTN-AS1 (S30347G +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 282429	NM_001267550.2(TTN):c.97481G>A (p.Arg32494His)	TTN, TTN-AS1 (R29926H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 202495	NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)	TTN, TTN-AS1 (E23411fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +7 more	GPathogenic/Likely pathogenic
Select item 1756275	NM_001267550.2(TTN):c.96680_96684del (p.Leu32227fs)	LOC126806421, TTN +1 more (L23162fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 1030167	NM_001267550.2(TTN):c.94771G>C (p.Gly31591Arg)	TTN, TTN-AS1 (G22651R +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +1 more	GUncertain significance
Select item 2441755	NM_001267550.2(TTN):c.93071C>T (p.Thr31024Ile)	TTN, TTN-AS1 (T21959I +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 2441805	NM_001267550.2(TTN):c.93043G>C (p.Asp31015His)	TTN, TTN-AS1 (D21950H +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 1030166	NM_001267550.2(TTN):c.92785G>A (p.Ala30929Thr)	TTN, TTN-AS1 (A21864T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 404725	NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val)	TTN, TTN-AS1 (A30741V +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1030165	NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter)	TTN, TTN-AS1 (W21575* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 1029101	NM_001267550.2(TTN):c.91564+2T>C	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 47493	NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)	TTN, TTN-AS1 (V29983M +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GConflicting classifications of pathogenicity
Select item 238860	NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)	TTN, TTN-AS1 (W29356* +5 more)	Single nucleotide variant (nonsense)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GLikely pathogenic
Select item 1029100	NM_001267550.2(TTN):c.86974T>G (p.Cys28992Gly)	TTN-AS1, TTN (C28992G +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy	GUncertain significance
Select item 1029099	NM_001267550.2(TTN):c.86822-2A>G	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2441627	NM_001267550.2(TTN):c.86822-8T>G	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GConflicting classifications of pathogenicity
Select item 467575	NM_001267550.2(TTN):c.85976A>C (p.Lys28659Thr)	TTN, TTN-AS1 (K28659T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1029098	NM_001267550.2(TTN):c.85769G>C (p.Arg28590Pro)	TTN, TTN-AS1 (R26949P +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1029097	NM_001267550.2(TTN):c.85328T>A (p.Val28443Asp)	TTN, TTN-AS1 (V19378D +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy	GUncertain significance
Select item 223295	NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)	TTN, TTN-AS1 (R28364* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +8 more	GPathogenic/Likely pathogenic
Select item 2671948	NM_001267550.2(TTN):c.83730G>A (p.Trp27910Ter)	TTN, TTN-AS1 (W18845* +5 more)	Single nucleotide variant (nonsense)	Early-onset myopathy with fatal cardiomyopathy	GLikely pathogenic
Select item 47422	NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)	TTN, TTN-AS1 (V27761I +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1029096	NM_001267550.2(TTN):c.82325T>C (p.Phe27442Ser)	TTN, TTN-AS1 (F18569S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
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 1031602	NM_001267550.2(TTN):c.80923C>A (p.Pro26975Thr)	TTN, TTN-AS1 (P18102T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 1029095	NM_001267550.2(TTN):c.80906T>G (p.Val26969Gly)	TTN-AS1, TTN (V24401G +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 1029094	NM_001267550.2(TTN):c.77618C>T (p.Ala25873Val)	TTN, TTN-AS1 (A17000V +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy	GUncertain significance
Select item 202467	NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs)	TTN-AS1, TTN (K15981fs +5 more)	Microsatellite (frameshift variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 191133	NM_001267550.2(TTN):c.74840G>A (p.Arg24947His)	TTN-AS1, TTN (R24947H +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1031114	NM_001267550.2(TTN):c.73416A>C (p.Lys24472Asn)	TTN, TTN-AS1 (K15407N +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 691684	NM_001267550.2(TTN):c.73391G>A (p.Arg24464Gln)	TTN, TTN-AS1 (R15399Q +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +3 more	GUncertain significance
Select item 191904	NM_001267550.2(TTN):c.71944A>G (p.Asn23982Asp)	TTN-AS1, TTN (N21414D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 2441845	NM_001267550.2(TTN):c.71544T>G (p.His23848Gln)	TTN, TTN-AS1 (H14783Q +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 3238815	NM_001267550.2(TTN):c.71371C>T (p.Leu23791Phe)	TTN-AS1, TTN (L14726F +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy	GUncertain significance
Select item 1029093	NM_001267550.2(TTN):c.70195C>G (p.Leu23399Val)	LOC126806422, TTN +1 more (L14334V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 165861	NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)	LOC126806422, TTN +1 more (I20720M +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
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 96298	NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)	TTN, TTN-AS1 (E20374K +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +10 more	GConflicting classifications of pathogenicity
Select item 180573	NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)	LOC126806423, TTN +1 more (R22499* +5 more)	Single nucleotide variant (nonsense)	Centronuclear myopathy +9 more	GPathogenic/Likely pathogenic
Select item 47251	NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg)	LOC126806423, TTN +1 more (K22496R +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 165882	NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser)	TTN, TTN-AS1 (G19872S +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +8 more	GUncertain significance
Select item 561141	NM_001267550.2(TTN):c.66416G>A (p.Gly22139Asp)	TTN, TTN-AS1 (G19571D +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 894738	NM_001267550.2(TTN):c.66376T>C (p.Tyr22126His)	TTN, TTN-AS1 (Y13186H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 47226	NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu)	TTN, TTN-AS1 (P21891L +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1034245	NM_001267550.2(TTN):c.65062G>A (p.Gly21688Arg)	TTN, TTN-AS1 (G12748R +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure	GUncertain significance
Select item 47215	NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)	TTN, TTN-AS1 (R21635C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1028579	NM_001267550.2(TTN):c.64066A>G (p.Lys21356Glu)	TTN, TTN-AS1 (K19715E +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 202779	NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn)	TTN-AS1, TTN (D19624N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 1028577	NM_001267550.2(TTN):c.63450A>G (p.Gln21150=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GConflicting classifications of pathogenicity
Select item 467358	NM_001267550.2(TTN):c.63047G>C (p.Ser21016Thr)	TTN, TTN-AS1 (S21016T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 202767	NM_001267550.2(TTN):c.63009G>C (p.Lys21003Asn)	TTN, TTN-AS1 (K19362N +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 242424	NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)	TTN, TTN-AS1 (R20908* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 202760	NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln)	TTN-AS1, TTN (P19128Q +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +6 more	GUncertain significance
Select item 202759	NM_001267550.2(TTN):c.62272G>A (p.Glu20758Lys)	TTN, TTN-AS1 (E19117K +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 47126	NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)	TTN, TTN-AS1 (L19196V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 2441741	NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln)	TTN, TTN-AS1 (K10056Q +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 1027853	NM_001267550.2(TTN):c.55345T>C (p.Cys18449Arg)	TTN, TTN-AS1 (C16808R +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy	GUncertain significance
Select item 1028574	NM_001267550.2(TTN):c.55264A>G (p.Met18422Val)	TTN, TTN-AS1 (M9549V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 1028573	NM_001267550.2(TTN):c.55154A>G (p.Gln18385Arg)	TTN, TTN-AS1 (Q9320R +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9	GUncertain significance
Select item 47069	NM_001267550.2(TTN):c.53002+10G>A	LOC126806425, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 202706	NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)	LOC126806425, TTN +1 more (A16009T +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GConflicting classifications of pathogenicity
Select item 2441726	NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)	LOC126806425, TTN +1 more (H14997fs +5 more)	Deletion (non-coding transcript variant +1 more)	not provided +6 more	GLikely pathogenic
Select item 332845	NM_001267550.2(TTN):c.51885G>T (p.Lys17295Asn)	TTN, TTN-AS1 (K14727N +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 179411	NM_001267550.2(TTN):c.49648+2del	TTN, TTN-AS1	Deletion (splice donor variant)	not provided +10 more	GPathogenic
Select item 2582651	NM_001267550.2(TTN):c.49609A>C (p.Ser16537Arg)	TTN, TTN-AS1 (S13969R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 1034243	NM_001267550.2(TTN):c.49265T>C (p.Ile16422Thr)	LOC126806426, TTN +1 more (I7549T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure	GUncertain significance
Select item 1031091	NM_001267550.2(TTN):c.48073A>T (p.Ser16025Cys)	TTN, TTN-AS1 (S6960C +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +1 more	GUncertain significance
Select item 451886	NM_001267550.2(TTN):c.47698G>A (p.Glu15900Lys)	TTN, TTN-AS1 (E14259K +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GConflicting classifications of pathogenicity
Select item 195546	NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)	TTN, TTN-AS1 (R15838Q +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 2582499	NM_001267550.2(TTN):c.47102G>C (p.Arg15701Thr)	TTN, TTN-AS1 (R13133T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 1031090	NM_001267550.2(TTN):c.46354T>G (p.Cys15452Gly)	TTN, TTN-AS1 (C12884G +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure	GUncertain significance
Select item 2582323	NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)	TTN, TTN-AS1	Deletion (non-coding transcript variant +1 more)	Tibial muscular dystrophy +5 more	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 89