ClinVar for Gene (Select 100506866) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076073	NM_001267550.2(TTN):c.62751del (p.Val20918fs)	TTN, TTN-AS1 (V11853fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3076051	NM_001267550.2(TTN):c.77421C>A (p.Tyr25807Ter)	TTN-AS1, TTN (Y16742* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3076047	NM_001267550.2(TTN):c.90040G>T (p.Gly30014Ter)	TTN, TTN-AS1 (G20949* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3076000	NM_001267550.2(TTN):c.81988C>T (p.Gln27330Ter)	TTN, TTN-AS1 (Q18265* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075948	NM_001267550.2(TTN):c.86379_86382del (p.Asp28794fs)	TTN, TTN-AS1 (D19729fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075939	NM_001267550.2(TTN):c.102850del (p.His34284fs)	TTN, TTN-AS1 (H25219fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075913	NM_001267550.2(TTN):c.72799C>T (p.Gln24267Ter)	TTN-AS1, TTN (Q15202* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075912	NM_001267550.2(TTN):c.106953C>G (p.Tyr35651Ter)	TTN, TTN-AS1 (Y26586* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075871	NM_001267550.2(TTN):c.76195del (p.Ala25399fs)	TTN, TTN-AS1 (A16334fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075745	NM_001267550.2(TTN):c.74707C>T (p.Gln24903Ter)	TTN, TTN-AS1 (Q15838* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075744	NM_001267550.2(TTN):c.77149_77150del (p.Leu25717fs)	TTN, TTN-AS1 (L16652fs +5 more)	Microsatellite (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075743	NM_001267550.2(TTN):c.80262C>G (p.Tyr26754Ter)	TTN-AS1, TTN (Y17689* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075742	NM_001267550.2(TTN):c.91528_91529del (p.Gln30510fs)	TTN, TTN-AS1 (Q21445fs +5 more)	Microsatellite (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075741	NM_001267550.2(TTN):c.92284A>T (p.Lys30762Ter)	TTN, TTN-AS1 (K21697* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075685	NM_001267550.2(TTN):c.70015del (p.Glu23339fs)	LOC126806422, TTN +1 more (E14274fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3069160	NM_001267550.2(TTN):c.46305-2A>G	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3068810	NM_001267550.2(TTN):c.79470A>G (p.Pro26490=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3068809	NM_001267550.2(TTN):c.70379T>G (p.Leu23460Arg)	LOC126806422, TTN +1 more (L14395R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068803	NM_001267550.2(TTN):c.78802G>A (p.Ala26268Thr)	TTN, TTN-AS1 (A17203T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068802	NM_001267550.2(TTN):c.103769A>G (p.Lys34590Arg)	TTN, TTN-AS1 (K25525R +5 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 3068129	NM_001267550.2(TTN):c.57103T>G (p.Trp19035Gly)	TTN, TTN-AS1 (W10095G +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3067906	NM_001267550.2(TTN):c.63938G>A (p.Trp21313Ter)	TTN, TTN-AS1 (W12248* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3067403	NM_001267550.2(TTN):c.78018C>T (p.Ser26006=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3066290	GRCh38/hg38 2q31.2(chr2:178655529-178662529)x1	TTN, TTN-AS1	Copy number loss	Autosomal recessive limb-girdle muscular dystrophy type 2J	GUncertain significance
Select item 3066150	NM_001267550.2(TTN):c.56905del (p.Ala18969fs)	TTN, TTN-AS1 (A10029fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3066104	NM_001267550.2(TTN):c.78685A>T (p.Arg26229Ter)	TTN, TTN-AS1 (R17164* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3065898	NM_001267550.2(TTN):c.99506G>A (p.Gly33169Asp)	TTN, TTN-AS1 (G24104D +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3065845	NM_001267550.2(TTN):c.61054G>A (p.Gly20352Arg)	TTN, TTN-AS1 (G11287R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3065350	NM_001267550.2(TTN):c.54613A>G (p.Lys18205Glu)	TTN, TTN-AS1 (K15637E +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3065148	NM_001267550.2(TTN):c.60127G>T (p.Gly20043Ter)	LOC126806424, TTN +1 more (G10978* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3064160	NM_001267550.2(TTN):c.84554G>A (p.Arg28185Gln)	TTN, TTN-AS1 (R19120Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3064011	NM_001267550.2(TTN):c.88736T>C (p.Val29579Ala)	TTN, TTN-AS1 (V20514A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064009	NM_001267550.2(TTN):c.94499C>G (p.Pro31500Arg)	TTN, TTN-AS1 (P22435R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063783	NM_001267550.2(TTN):c.54644G>A (p.Arg18215His)	TTN, TTN-AS1 (R15647H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063742	NM_001267550.2(TTN):c.72119T>C (p.Ile24040Thr)	TTN, TTN-AS1 (I14975T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063722	NM_001267550.2(TTN):c.64889A>T (p.Tyr21630Phe)	TTN, TTN-AS1 (Y12565F +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3063679	NM_001267550.2(TTN):c.83158G>T (p.Ala27720Ser)	TTN-AS1, TTN (A18655S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063635	NM_001267550.2(TTN):c.71798C>T (p.Pro23933Leu)	TTN, TTN-AS1 (P14868L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063598	NM_001267550.2(TTN):c.78369_78376dup (p.Glu26126delinsAlaLeuTer)	TTN, TTN-AS1	Duplication (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3062341	NM_001267550.2(TTN):c.60442dup (p.Glu20148fs)	TTN, TTN-AS1 (E11083fs +5 more)	Duplication (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3062091	NM_001267550.2(TTN):c.99045_99046insCC (p.Thr33016fs)	TTN-AS1, TTN (T23951fs +5 more)	Insertion (non-coding transcript variant +1 more)	TTN-Related Disorders	GPathogenic
Select item 3061345	NM_001267550.2(TTN):c.69106del (p.Thr23036fs)	TTN, TTN-AS1 (T13971fs +5 more)	Deletion (frameshift variant)	TTN-related condition	GLikely pathogenic
Select item 3061222	NM_001267550.2(TTN):c.78797del (p.Ile26265_Leu26266insTer)	TTN, TTN-AS1	Deletion (nonsense)	TTN-related condition	GLikely pathogenic
Select item 3060167	NM_001267550.2(TTN):c.83080C>G (p.Arg27694Gly)	TTN, TTN-AS1 (R18629G +5 more)	Single nucleotide variant (missense variant)	TTN-related condition	GUncertain significance
Select item 3059294	NM_001267550.2(TTN):c.84780A>C (p.Glu28260Asp)	TTN, TTN-AS1 (E19195D +5 more)	Single nucleotide variant (missense variant)	TTN-related condition	GUncertain significance
Select item 3058532	NM_001267550.2(TTN):c.75210C>G (p.Gly25070=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	TTN-related condition	GLikely benign
Select item 3055347	NM_001267550.2(TTN):c.50001A>C (p.Thr16667=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	TTN-related condition	GLikely benign
Select item 3054583	NM_001267550.2(TTN):c.50143C>G (p.Leu16715Val)	TTN, TTN-AS1 (L14147V +5 more)	Single nucleotide variant (missense variant)	TTN-related condition	GUncertain significance
Select item 3054489	NM_001267550.2(TTN):c.59735A>G (p.Tyr19912Cys)	LOC126806424, TTN +1 more (Y10847C +5 more)	Single nucleotide variant (missense variant)	TTN-related condition	GUncertain significance
Select item 3054286	NM_001267550.2(TTN):c.56358C>T (p.Gly18786=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	TTN-related condition	GLikely benign
Select item 3052637	NM_001267550.2(TTN):c.107681-7C>T	TTN, TTN-AS1	Single nucleotide variant (intron variant)	TTN-related condition	GLikely benign
Select item 3051922	NM_001267550.2(TTN):c.89593G>A (p.Gly29865Ser)	TTN, TTN-AS1 (G20800S +5 more)	Single nucleotide variant (missense variant)	TTN-related condition	GUncertain significance
Select item 3051892	NM_001267550.2(TTN):c.88403C>G (p.Pro29468Arg)	TTN, TTN-AS1 (P20403R +5 more)	Single nucleotide variant (missense variant)	TTN-related condition	GUncertain significance
Select item 3051597	NM_001267550.2(TTN):c.106233A>G (p.Lys35411=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	TTN-related condition	GLikely benign
Select item 3049827	NM_001267550.2(TTN):c.104838G>A (p.Leu34946=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	TTN-related condition	GLikely benign
Select item 3048292	NM_001267550.2(TTN):c.55785A>G (p.Thr18595=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	TTN-related condition	GLikely benign
Select item 3047849	NM_001267550.2(TTN):c.91413C>T (p.Cys30471=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	TTN-related condition	GLikely benign
Select item 3047408	NM_001267550.2(TTN):c.97192+9G>A	LOC129935186, TTN +1 more	Single nucleotide variant (intron variant)	TTN-related condition	GLikely benign
Select item 3046357	NM_001267550.2(TTN):c.95085G>C (p.Gly31695=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	TTN-related condition	GLikely benign
Select item 3045559	NM_001267550.2(TTN):c.89391A>C (p.Val29797=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	TTN-related condition	GLikely benign
Select item 3043176	NM_001267550.2(TTN):c.83835T>G (p.Ser27945Arg)	TTN, TTN-AS1 (S18880R +5 more)	Single nucleotide variant (missense variant)	TTN-related condition	GUncertain significance
Select item 3037091	NM_001267550.2(TTN):c.100172-10T>G	LOC126806420, TTN +1 more	Single nucleotide variant (intron variant)	TTN-related condition	GLikely benign
Select item 3036692	NM_001267550.2(TTN):c.100185T>A (p.Ala33395=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	TTN-related condition	GLikely benign
Select item 3033735	NM_001267550.2(TTN):c.69448A>T (p.Asn23150Tyr)	TTN, TTN-AS1 (N14085Y +5 more)	Single nucleotide variant (missense variant)	TTN-related condition	GUncertain significance
Select item 3032598	NM_001267550.2(TTN):c.85396G>A (p.Glu28466Lys)	TTN, TTN-AS1 (E19401K +5 more)	Single nucleotide variant (missense variant)	TTN-related condition	GUncertain significance
Select item 3032521	NM_001267550.2(TTN):c.63205A>G (p.Thr21069Ala)	TTN, TTN-AS1 (T12004A +5 more)	Single nucleotide variant (missense variant)	TTN-related condition	GUncertain significance
Select item 3031883	NM_001267550.2(TTN):c.105472_105473delinsAA (p.Pro35158Lys)	TTN, TTN-AS1 (P26093K +5 more)	Indel (missense variant)	TTN-related condition	GUncertain significance
Select item 3029961	NM_001267550.2(TTN):c.49578G>A (p.Leu16526=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	TTN-related condition	GLikely benign
Select item 3029230	NM_001267550.2(TTN):c.55007T>C (p.Val18336Ala)	TTN, TTN-AS1 (V15768A +5 more)	Single nucleotide variant (missense variant)	TTN-related condition	GUncertain significance
Select item 3029044	NM_001267550.2(TTN):c.91941C>T (p.Asp30647=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	TTN-related condition	GLikely benign
Select item 3027460	NM_001267550.2(TTN):c.56830_56831del (p.Leu18944fs)	TTN, TTN-AS1 (L10004fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3027303	NM_001267550.2(TTN):c.69983C>T (p.Ala23328Val)	LOC126806422, TTN +1 more (A14263V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027288	NM_001267550.2(TTN):c.105420C>T (p.Val35140=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027224	NM_001267550.2(TTN):c.52783T>G (p.Phe17595Val)	LOC126806425, TTN +1 more (F15027V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027198	NM_001267550.2(TTN):c.48984A>G (p.Thr16328=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3027124	NM_001267550.2(TTN):c.103804C>T (p.Gln34602Ter)	TTN, TTN-AS1 (Q25537* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3027083	NM_001267550.2(TTN):c.67541C>G (p.Thr22514Ser)	LOC126806423, TTN +1 more (T13449S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027063	NM_001267550.2(TTN):c.106273G>A (p.Gly35425Arg)	TTN-AS1, TTN (G26360R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026976	NM_001267550.2(TTN):c.73654A>G (p.Lys24552Glu)	TTN, TTN-AS1 (K15487E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026774	NM_001267550.2(TTN):c.67890C>G (p.Gly22630=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026773	NM_001267550.2(TTN):c.97320del (p.Asp32441fs)	TTN, TTN-AS1 (D23376fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3026760	NM_001267550.2(TTN):c.72020C>T (p.Ala24007Val)	TTN, TTN-AS1 (A14942V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026705	NM_001267550.2(TTN):c.69961G>C (p.Asp23321His)	LOC126806422, TTN +1 more (D14256H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026703	NM_001267550.2(TTN):c.94328A>G (p.Tyr31443Cys)	TTN, TTN-AS1 (Y22378C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026700	NM_001267550.2(TTN):c.95981G>A (p.Ser31994Asn)	TTN, TTN-AS1 (S22929N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026607	NM_001267550.2(TTN):c.65060del (p.Gly21687fs)	TTN, TTN-AS1 (G12622fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3026501	NM_001267550.2(TTN):c.65067C>A (p.Ser21689Arg)	TTN, TTN-AS1 (S12624R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026448	NM_001267550.2(TTN):c.82111G>A (p.Gly27371Arg)	TTN, TTN-AS1 (G18306R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026307	NM_001267550.2(TTN):c.88705T>A (p.Tyr29569Asn)	TTN, TTN-AS1 (Y20504N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026029	NM_001267550.2(TTN):c.82466_82467insT (p.Trp27490fs)	TTN, TTN-AS1 (W18425fs +5 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 3025774	NM_001267550.2(TTN):c.74261T>C (p.Val24754Ala)	TTN, TTN-AS1 (V15689A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025662	NM_001267550.2(TTN):c.48257C>T (p.Pro16086Leu)	TTN, TTN-AS1 (P13518L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025561	NM_001267550.2(TTN):c.88504G>A (p.Asp29502Asn)	TTN, TTN-AS1 (D20437N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025173	NM_001267550.2(TTN):c.62028C>T (p.His20676=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024182	NM_001267550.2(TTN):c.80504del (p.Val26835fs)	TTN, TTN-AS1 (V17770fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2954558	NM_001267550.2(TTN):c.92373T>C (p.Tyr30791=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954554	NM_001267550.2(TTN):c.51436+13A>T	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign

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