TTN[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1329157	NM_001267550.2(TTN):c.46089_46090del (p.Cys15363fs)	TTN (C12795fs +5 more)	Microsatellite (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 46997	NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs)	TTN (M6484fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3236158	NM_001267550.2(TTN):c.45896-2A>C	TTN	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 9	GPathogenic
Select item 222867	NM_001267550.2(TTN):c.45896-2A>G	TTN	Single nucleotide variant (splice acceptor variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 178984	NM_001267550.2(TTN):c.45895+1G>A	TTN	Single nucleotide variant (splice donor variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 2451947	NM_001267550.2(TTN):c.45823_45848del (p.Ala15275fs)	TTN (A13634fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 223276	NM_001267550.2(TTN):c.45812T>G (p.Leu15271Ter)	TTN (L15271* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3184660	NM_001267550.2(TTN):c.45802_45803del (p.Asp15268fs)	TTN (D6395fs +5 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 626683	NM_001267550.2(TTN):c.45758_45764del (p.Tyr15253fs)	TTN (Y15253fs +5 more)	Deletion (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 224649	NM_001267550.2(TTN):c.45756dup (p.Tyr15253fs)	TTN (Y15253fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1781177	NM_001267550.2(TTN):c.45617-1G>C	TTN	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 2586562	NM_001267550.2(TTN):c.44840del (p.Pro14947fs)	TTN (P13306fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 2586513	NM_001267550.2(TTN):c.44831del (p.Phe14944fs)	TTN (F5879fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 372906	NM_001267550.2(TTN):c.44663del (p.Asn14888fs)	TTN (N13247fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 978036	NM_001267550.2(TTN):c.44516del (p.Asp14839fs)	TTN (D12271fs +5 more)	Deletion (frameshift variant)	Congenital titinopathy	GLikely pathogenic
Select item 817709	NM_001267550.2(TTN):c.44465_44466del (p.Leu14822fs)	TTN (L13181fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3223201	NM_001267550.2(TTN):c.44335dup (p.Glu14779fs)	TTN (E12211fs +5 more)	Duplication (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 191139	NM_001267550.2(TTN):c.44269C>G (p.Leu14757Val)	TTN (L14757V +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1778244	NM_001267550.2(TTN):c.44170_44173del (p.Glu14724fs)	TTN (E13083fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1778210	NM_001267550.2(TTN):c.44149del (p.Thr14717fs)	TTN (T14717fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1778191	NM_001267550.2(TTN):c.44143del (p.Leu14715fs)	TTN (L13074fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1284344	NM_001267550.2(TTN):c.44077del (p.Arg14693fs)	TTN (R12125fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2586569	NM_001267550.2(TTN):c.44067_44068del (p.Glu14690fs)	TTN (E12122fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1777979	NM_001267550.2(TTN):c.44046_44047del (p.His14682fs)	TTN (H12114fs +5 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 571684	NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter)	TTN (R14679* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GLikely pathogenic
Select item 2582987	NM_001267550.2(TTN):c.44016del (p.Arg14673fs)	TTN (R12105fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1696009	NM_001267550.2(TTN):c.43960C>T (p.Gln14654Ter)	TTN (Q12086* +5 more)	Single nucleotide variant (nonsense)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 2505144	NM_001267550.2(TTN):c.43943T>A (p.Leu14648Ter)	TTN (L12080* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1777501	NM_001267550.2(TTN):c.43816C>T (p.Gln14606Ter)	TTN (Q12038* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 223275	NM_001267550.2(TTN):c.43792del (p.Gly14597_Val14598insTer)	TTN	Deletion (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 691698	NM_001267550.2(TTN):c.43604_43607dup (p.His14537fs)	TTN (H14537fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 2691072	NM_001267550.2(TTN):c.43509del (p.Asp14505fs)	TTN (D11937fs +5 more)	Deletion (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 503967	NM_001267550.2(TTN):c.43370del (p.Lys14457fs)	TTN (K14457fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1329150	NM_001267550.2(TTN):c.43326_43327del (p.Gly14443fs)	TTN (G11875fs +5 more)	Deletion (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 2044697	NM_001267550.2(TTN):c.43269del (p.Asp14423fs)	TTN (D12782fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 505124	NM_001267550.2(TTN):c.42968dup (p.Pro14324fs)	TTN (P12683fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 405117	NM_001267550.2(TTN):c.42919_42923del (p.Lys14307fs)	TTN (K12666fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 265818	NM_001267550.2(TTN):c.42909_42910del (p.Cys14303fs)	TTN (C12662fs +5 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1S	GLikely pathogenic
Select item 1775267	NM_001267550.2(TTN):c.42807_42819dup (p.Lys14274fs)	TTN (K5209fs +5 more)	Duplication (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1775204	NM_001267550.2(TTN):c.42786del (p.Trp14262fs)	TTN (W12621fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3223198	NM_001267550.2(TTN):c.42728dup (p.Glu14244fs)	TTN (E11676fs +5 more)	Duplication (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1774853	NM_001267550.2(TTN):c.42614_42635delinsCCTTCAGGGGCACAGCAAAGTCAAGG (p.Leu14205fs)	TTN (L5265fs +5 more)	Indel (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 2586559	NM_001267550.2(TTN):c.42507_42508delinsT (p.Lys14169fs)	TTN (K12528fs +5 more)	Indel (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 212468	NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs)	TTN (C14163fs +5 more)	Microsatellite (frameshift variant)	Cardiomyopathy +4 more	GPathogenic/Likely pathogenic
Select item 242422	NM_001267550.2(TTN):c.42315_42318del (p.Lys14105fs)	TTN (K5040fs +5 more)	Microsatellite (frameshift variant)	Primary familial dilated cardiomyopathy	GLikely pathogenic
Select item 202364	NM_001267550.2(TTN):c.42214C>T (p.Arg14072Ter)	TTN (R12431* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GLikely pathogenic
Select item 1465219	NM_001267550.2(TTN):c.42208C>T (p.Gln14070Ter)	TTN (Q11502* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 1773867	NM_001267550.2(TTN):c.42154del (p.Ile14052fs)	TTN (I14052fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 2921407	NM_001267550.2(TTN):c.41941dup (p.Ser13981fs)	TTN (S11413fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2953861	NM_001267550.2(TTN):c.41937del (p.Glu13980fs)	TTN (E12339fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 1462333	NM_001267550.2(TTN):c.41885-3_41885del	TTN	Deletion (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 223367	NM_001267550.2(TTN):c.41835T>G (p.Tyr13945Ter)	TTN (Y13945* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075746	NM_001267550.2(TTN):c.41717G>A (p.Trp13906Ter)	TTN (W11338* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1012356	NM_001267550.2(TTN):c.41608+1G>T	TTN	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G	GPathogenic
Select item 3223197	NM_001267550.2(TTN):c.41595C>A (p.Cys13865Ter)	TTN (C11297* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 1679195	NM_001267550.2(TTN):c.41467C>G (p.Pro13823Ala)	TTN (P11255A +5 more)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 223273	NM_001267550.2(TTN):c.41447del (p.Gly13816fs)	TTN (G12175fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 2921311	NM_001267550.2(TTN):c.41406C>A (p.Cys13802Ter)	TTN (C11234* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 636801	NM_001267550.2(TTN):c.41383G>T (p.Gly13795Ter)	TTN (G13795* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2451914	NM_001267550.2(TTN):c.41202del (p.Phe13734fs)	TTN (F11166fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1771567	NM_001267550.2(TTN):c.41120_41123del (p.Glu13707fs)	TTN (E4642fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 238774	NM_001267550.2(TTN):c.41118del (p.Phe13706fs)	TTN (F12065fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GPathogenic
Select item 2954063	NM_001267550.2(TTN):c.40940dup (p.Thr13648fs)	TTN (T13648fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 3075832	NM_001267550.2(TTN):c.40791dup (p.Lys13598fs)	TTN (K11030fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1012348	NM_001267550.2(TTN):c.40688_40689insT (p.Arg13565fs)	TTN (R10997fs +5 more)	Insertion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2431915	NM_001267550.2(TTN):c.40663G>T (p.Glu13555Ter)	TTN (E10987* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2500879	NM_001267550.2(TTN):c.40652del (p.Pro13551fs)	TTN (P10983fs +5 more)	Deletion (frameshift variant)	Early-onset myopathy with fatal cardiomyopathy	GLikely pathogenic
Select item 1199466	NM_001267550.2(TTN):c.40634-1G>T	TTN	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 446420	NM_001267550.2(TTN):c.40626dup (p.Pro13543fs)	TTN (P4670fs +5 more)	Duplication (frameshift variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 520478	NM_001267550.2(TTN):c.40621A>T (p.Lys13541Ter)	TTN (K13541* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 978762	NM_001267550.2(TTN):c.40608del (p.Lys13536fs)	TTN (K10968fs +5 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 1284545	NM_001267550.2(TTN):c.40603A>T (p.Lys13535Ter)	TTN (K10967* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 915743	NM_001267550.2(TTN):c.40537_40540del (p.Glu13513fs)	TTN (E4573fs +5 more)	Deletion (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 2948172	NM_001267550.2(TTN):c.40437del (p.Lys13479fs)	TTN (K10911fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 577492	NM_001267550.2(TTN):c.40409-2A>C	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GPathogenic
Select item 2926631	NM_001267550.2(TTN):c.40297+1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 1177408	NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs)	TTN (Y13414fs)	Duplication (intron variant +1 more)	Early-onset myopathy with fatal cardiomyopathy	GPathogenic
Select item 987382	NM_001267550.2(TTN):c.39974-11T>G	TTN	Single nucleotide variant (intron variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 2921975	NM_001267550.2(TTN):c.39251del (p.Val13084fs)	TTN (V11577fs +2 more)	Deletion (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2947101	NM_001267550.2(TTN):c.39212-1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 1695409	NM_001267550.2(TTN):c.39109G>T (p.Glu13037Ter)	TTN (E10603* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GPathogenic
Select item 2574631	NM_001267550.2(TTN):c.39043+2T>G	TTN	Single nucleotide variant (intron variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 1695405	NM_001267550.2(TTN):c.38876-2A>C	TTN	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 986355	NM_001267550.2(TTN):c.38767A>T (p.Lys12923Ter)	TTN (K12923*)	Single nucleotide variant (nonsense +1 more)	Early-onset myopathy with fatal cardiomyopathy	GLikely pathogenic
Select item 617586	NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)	TTN (E12913*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GPathogenic/Likely pathogenic
Select item 226126	NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs)	TTN (K12887fs)	Microsatellite (frameshift variant +1 more)	TTN-related myopathy	GPathogenic
Select item 1339493	NM_001267550.2(TTN):c.38409del (p.Glu12804fs)	TTN (E12804fs)	Deletion (frameshift variant +1 more)	TTN-related disorder	GLikely pathogenic
Select item 2442017	NM_001267550.2(TTN):c.38182A>T (p.Lys12728Ter)	TTN (K12728*)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 489358	NM_001267550.2(TTN):c.37906A>T (p.Lys12636Ter)	TTN (K12636*)	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 870891	NM_001267550.2(TTN):c.37135C>T (p.Gln12379Ter)	TTN (Q12379*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1355939	NM_001267550.2(TTN):c.36448+2T>C	TTN	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 1410242	NM_001267550.2(TTN):c.36365-1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GLikely pathogenic
Select item 2196113	NM_001267550.2(TTN):c.36364+1G>C	TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954078	NM_001267550.2(TTN):c.36003del (p.Phe12001fs)	TTN (F12001fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 809024	NM_001267550.2(TTN):c.35876-2A>G	TTN	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2446658	NM_001267550.2(TTN):c.35875+2T>C	TTN	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 467056	NM_001267550.2(TTN):c.35797+1G>T	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 1409263	NM_001267550.2(TTN):c.35630-1G>C	TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2951136	NM_001267550.2(TTN):c.35321_35322del (p.Pro11774fs)	TTN (P11400fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 1298847	NM_001267550.2(TTN):c.35248del (p.Ile11750fs)	TTN (I10449fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic

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