Related gene-specific medical variations for Gene (Select 7273) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374731	NM_001267550.2(TTN):c.88068G>A (p.Trp29356Ter)	TTN, TTN-AS1 (W20291* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3373555	NM_001267550.2(TTN):c.19994-8C>G	LOC126806429, TTN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3373542	NM_001267550.2(TTN):c.52229A>T (p.Asp17410Val)	TTN, TTN-AS1 (D14842V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373308	NM_001267550.2(TTN):c.65597G>A (p.Ser21866Asn)	TTN, TTN-AS1 (S12801N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373290	NM_001267550.2(TTN):c.56959A>G (p.Ile18987Val)	TTN, TTN-AS1 (I10047V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373004	NM_001267550.2(TTN):c.84787A>G (p.Asn28263Asp)	TTN, TTN-AS1 (N19198D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372856	NM_001267550.2(TTN):c.4414C>A (p.Gln1472Lys)	LOC101927055, TTN (Q1426K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3372737	NM_001267550.2(TTN):c.54755C>T (p.Ala18252Val)	TTN, TTN-AS1 (A15684V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372734	NM_001267550.2(TTN):c.87248dup (p.Leu29085fs)	TTN, TTN-AS1 (L20020fs +5 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3372503	NM_001267550.2(TTN):c.96311-1G>A	LOC126806421, TTN +1 more	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3372494	NM_001267550.2(TTN):c.90743T>C (p.Val30248Ala)	TTN, TTN-AS1 (V21183A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372440	NM_001267550.2(TTN):c.101720G>C (p.Ser33907Thr)	TTN, TTN-AS1 (S24842T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372439	NM_001267550.2(TTN):c.74398A>C (p.Thr24800Pro)	TTN, TTN-AS1 (T15735P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372429	NM_001267550.2(TTN):c.77491T>A (p.Trp25831Arg)	TTN, TTN-AS1 (W16766R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372087	NM_001267550.2(TTN):c.4529A>G (p.Asp1510Gly)	LOC101927055, TTN (D1464G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3371547	NM_001267550.2(TTN):c.57925A>G (p.Lys19309Glu)	TTN, TTN-AS1 (K10244E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371261	NM_001267550.2(TTN):c.82086C>G (p.Ile27362Met)	TTN, TTN-AS1 (I18297M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370974	NM_001267550.2(TTN):c.72040C>T (p.Pro24014Ser)	TTN, TTN-AS1 (P14949S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370736	NM_001267550.2(TTN):c.49991C>T (p.Thr16664Ile)	TTN, TTN-AS1 (T14096I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370623	NM_001267550.2(TTN):c.91813_91824del (p.Ser30605_Ala30608del)	TTN, TTN-AS1	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 3370064	NM_001267550.2(TTN):c.47004_47012del (p.Glu15668_Phe15670del)	TTN, TTN-AS1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3369688	NM_001267550.2(TTN):c.4624T>G (p.Ser1542Ala)	LOC101927055, TTN (S1496A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3369566	NM_001267550.2(TTN):c.91424A>T (p.Asp30475Val)	TTN-AS1, TTN (D21410V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368950	NM_001267550.2(TTN):c.55781A>G (p.Asn18594Ser)	TTN, TTN-AS1 (N16026S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368677	NM_001267550.2(TTN):c.60229T>A (p.Ser20077Thr)	TTN, TTN-AS1 (S11012T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368531	NM_001267550.2(TTN):c.7397G>C (p.Cys2466Ser)	LOC126806433, TTN (C2420S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368436	NM_001267550.2(TTN):c.62656G>C (p.Asp20886His)	TTN, TTN-AS1 (D11821H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368432	NM_001267550.2(TTN):c.4032T>A (p.Asp1344Glu)	LOC101927055, TTN (D1298E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367776	NM_001267550.2(TTN):c.16808T>G (p.Leu5603Arg)	LOC126806431, TTN (L4359R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367511	NM_001267550.2(TTN):c.65326C>A (p.Leu21776Met)	TTN, TTN-AS1 (L12711M +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3367252	NM_001267550.2(TTN):c.20985dup (p.Phe6996fs)	LOC126806428, TTN (F5752fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3366585	NM_001267550.2(TTN):c.49113A>G (p.Thr16371=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3366067	NM_001267550.2(TTN):c.61656G>C (p.Lys20552Asn)	TTN, TTN-AS1 (K11487N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365764	NM_001267550.2(TTN):c.80197G>A (p.Val26733Met)	TTN, TTN-AS1 (V17668M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365637	NM_001267550.2(TTN):c.94596T>A (p.Tyr31532Ter)	TTN, TTN-AS1 (Y22467* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3365281	NM_001267550.2(TTN):c.87566C>T (p.Ser29189Phe)	TTN, TTN-AS1 (S20124F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365049	NM_001267550.2(TTN):c.73303C>A (p.Arg24435Ser)	TTN, TTN-AS1 (R15370S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364314	NM_001267550.2(TTN):c.49412G>A (p.Trp16471Ter)	TTN, TTN-AS1 (W13903* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3363100	NM_001267550.2(TTN):c.60709C>T (p.Gln20237Ter)	TTN, TTN-AS1 (Q11172* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363099	NM_001267550.2(TTN):c.60654del (p.Trp20219fs)	TTN, TTN-AS1 (W11154fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363098	NM_001267550.2(TTN):c.60264del (p.Val20089fs)	TTN, TTN-AS1 (V11024fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363097	NM_001267550.2(TTN):c.60098T>G (p.Leu20033Ter)	LOC126806424, TTN +1 more (L10968* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363096	NM_001267550.2(TTN):c.59254dup (p.Thr19752fs)	TTN, TTN-AS1 (T10687fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363094	NM_001267550.2(TTN):c.57519_57520del (p.Lys19174fs)	TTN, TTN-AS1 (K10109fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363093	NM_001267550.2(TTN):c.56560G>T (p.Glu18854Ter)	TTN, TTN-AS1 (E16286* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363092	NM_001267550.2(TTN):c.56190dup (p.Pro18731fs)	TTN, TTN-AS1 (P16163fs +5 more)	Duplication (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363091	NM_001267550.2(TTN):c.56064del (p.Ile18688fs)	TTN, TTN-AS1 (I16120fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363090	NM_001267550.2(TTN):c.55202dup (p.Ile18402fs)	TTN, TTN-AS1 (I15834fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363089	NM_001267550.2(TTN):c.3800T>A (p.Leu1267Ter)	LOC101927055, TTN (L1221* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363088	NM_001267550.2(TTN):c.54118_54137del (p.Lys18040fs)	TTN, TTN-AS1 (K15472fs +5 more)	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363087	NM_001267550.2(TTN):c.53922del (p.Asp17974fs)	TTN, TTN-AS1 (D15406fs +5 more)	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363086	NM_001267550.2(TTN):c.52712_52713del (p.Pro17571fs)	LOC126806425, TTN +1 more (P15003fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363085	NM_001267550.2(TTN):c.52525del (p.Arg17509fs)	LOC126806425, TTN +1 more (R14941fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363084	NM_001267550.2(TTN):c.52330del (p.Arg17444fs)	TTN, TTN-AS1 (R14876fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363083	NM_001267550.2(TTN):c.51318G>A (p.Trp17106Ter)	TTN, TTN-AS1 (W14538* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363082	NM_001267550.2(TTN):c.50983_50986dup (p.Lys16996delinsSerTer)	TTN, TTN-AS1	Duplication (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363080	NM_001267550.2(TTN):c.49608_49609dup (p.Ser16537fs)	TTN, TTN-AS1 (S13969fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363079	NM_001267550.2(TTN):c.49548dup (p.Asn16517Ter)	TTN, TTN-AS1 (N13949* +5 more)	Duplication (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363078	NM_001267550.2(TTN):c.49532+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363077	NM_001267550.2(TTN):c.49157_49158insACCACAAACTA (p.Tyr16386Ter)	LOC126806426, TTN +1 more (Y13818* +5 more)	Insertion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363076	NM_001267550.2(TTN):c.48661G>T (p.Glu16221Ter)	LOC126806426, TTN +1 more (E13653* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363075	NM_001267550.2(TTN):c.48400A>T (p.Lys16134Ter)	TTN, TTN-AS1 (K13566* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363074	NM_001267550.2(TTN):c.48313-2A>G	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363073	NM_001267550.2(TTN):c.47337G>A (p.Trp15779Ter)	TTN, TTN-AS1 (W13211* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363072	NM_001267550.2(TTN):c.46637del (p.Gln15546fs)	TTN, TTN-AS1 (Q12978fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363070	NM_001267550.2(TTN):c.46304+2T>G	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363058	NM_001267550.2(TTN):c.69412+5G>A	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363057	NM_001267550.2(TTN):c.53003-36_53045del	LOC126806425, TTN +1 more	Deletion (splice acceptor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363055	NM_001267550.2(TTN):c.87119-1G>C	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363054	NM_001267550.2(TTN):c.86822-1G>C	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363053	NM_001267550.2(TTN):c.67636+1G>A	LOC126806423, TTN +1 more	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363052	NM_001267550.2(TTN):c.60220+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363050	NM_001267550.2(TTN):c.53881+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363049	NM_001267550.2(TTN):c.51436+1del	TTN, TTN-AS1	Deletion (splice donor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363048	NM_001267550.2(TTN):c.48161-1G>A	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363044	NM_001267550.2(TTN):c.106864C>T (p.Gln35622Ter)	TTN, TTN-AS1 (Q26557* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363043	NM_001267550.2(TTN):c.106181_106185del (p.Lys35394fs)	LOC129935182, TTN +1 more (K26521fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363042	NM_001267550.2(TTN):c.105474_105477del (p.Pro35158_Thr35159insTer)	TTN, TTN-AS1	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363041	NM_001267550.2(TTN):c.103840C>T (p.Gln34614Ter)	TTN, TTN-AS1 (Q25549* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363040	NM_001267550.2(TTN):c.103048_103058del (p.Val34350fs)	TTN, TTN-AS1 (V25285fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363039	NM_001267550.2(TTN):c.102586del (p.Val34196fs)	TTN, TTN-AS1 (V25131fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363038	NM_001267550.2(TTN):c.102090del (p.Glu34031fs)	TTN, TTN-AS1 (E24966fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363037	NM_001267550.2(TTN):c.101854del (p.Ser33952fs)	TTN, TTN-AS1 (S24887fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363036	NM_001267550.2(TTN):c.100389C>A (p.Tyr33463Ter)	TTN, TTN-AS1 (Y24398* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GPathogenic
Select item 3363035	NM_001267550.2(TTN):c.100030del (p.Ser33344fs)	LOC126806420, TTN +1 more (S24279fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363034	NM_001267550.2(TTN):c.99862C>T (p.Gln33288Ter)	LOC126806420, TTN +1 more (Q24223* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363033	NM_001267550.2(TTN):c.99578dup (p.Pro33194fs)	TTN, TTN-AS1 (P24129fs +5 more)	Duplication (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363032	NM_001267550.2(TTN):c.99323_99326del (p.Lys33108fs)	TTN, TTN-AS1 (K24043fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363031	NM_001267550.2(TTN):c.99085G>T (p.Glu33029Ter)	TTN, TTN-AS1 (E23964* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363030	NM_001267550.2(TTN):c.98666del (p.Thr32889fs)	TTN, TTN-AS1 (T23824fs +5 more)	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363028	NM_001267550.2(TTN):c.98303del (p.Gly32768fs)	TTN, TTN-AS1 (G23703fs +5 more)	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363027	NM_001267550.2(TTN):c.97474G>T (p.Glu32492Ter)	TTN, TTN-AS1 (E23427* +5 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363026	NM_001267550.2(TTN):c.97287del (p.Ala32430fs)	TTN, TTN-AS1 (A23365fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363025	NM_001267550.2(TTN):c.97282_97294del (p.Asp32427_Gly32428insTer)	TTN, TTN-AS1	Deletion (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363023	NM_001267550.2(TTN):c.97148dup (p.Asn32383fs)	TTN, TTN-AS1 (N23318fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363022	NM_001267550.2(TTN):c.96675_96676delinsG (p.Pro32226fs)	LOC126806421, TTN +1 more (P23161fs +5 more)	Indel (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363021	NM_001267550.2(TTN):c.95833del (p.Val31945fs)	TTN, TTN-AS1 (V22880fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363020	NM_001267550.2(TTN):c.95358_95361del (p.Lys31787fs)	TTN, TTN-AS1 (K22722fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363019	NM_001267550.2(TTN):c.95232del (p.Ile31744fs)	TTN, TTN-AS1 (I22679fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363018	NM_001267550.2(TTN):c.94394_94397delinsTA (p.Glu31465fs)	TTN, TTN-AS1 (E22400fs +5 more)	Indel (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic

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