ClinVar for Gene (Select 7273) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251688	NM_001267550.2(TTN):c.45819C>T (p.Asp15273=)	TTN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3251450	NM_001267550.2(TTN):c.77671C>T (p.Pro25891Ser)	TTN, TTN-AS1 (P16826S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251443	NM_001267550.2(TTN):c.71889G>C (p.Lys23963Asn)	TTN, TTN-AS1 (K14898N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251442	NM_001267550.2(TTN):c.63290T>C (p.Ile21097Thr)	TTN, TTN-AS1 (I12032T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251415	NM_001267550.2(TTN):c.92705C>A (p.Ala30902Asp)	TTN, TTN-AS1 (A21837D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251405	NM_001267550.2(TTN):c.16684C>A (p.Gln5562Lys)	TTN (Q4318K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3251205	NM_001267550.2(TTN):c.3083G>T (p.Cys1028Phe)	TTN (C1028F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251194	NM_001267550.2(TTN):c.1166G>T (p.Ser389Ile)	TTN (S389I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251145	NM_001267550.2(TTN):c.30792T>C (p.Ile10264=)	TTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3251126	NM_001267550.2(TTN):c.58372T>G (p.Cys19458Gly)	TTN, TTN-AS1 (C10393G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251066	NM_001267550.2(TTN):c.48516CTT[1] (p.Phe16173del)	TTN, TTN-AS1 (F13605del +5 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3251035	NM_001267550.2(TTN):c.4404T>C (p.Cys1468=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3251013	NM_001267550.2(TTN):c.65491C>T (p.Gln21831Ter)	TTN, TTN-AS1 (Q12766* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 3250943	NM_001267550.2(TTN):c.4899TAA[1] (p.Asn1634del)	LOC101927055, TTN (N1588del +1 more)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3250929	NM_001267550.2(TTN):c.36859G>A (p.Ala12287Thr)	TTN (A12287T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3250860	NM_001267550.2(TTN):c.88227T>G (p.Arg29409=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250843	NM_133379.5(TTN):c.14466C>T (p.Leu4822=)	LOC126806432, TTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3250837	NM_001267550.2(TTN):c.8294G>C (p.Arg2765Thr)	TTN (R2719T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250818	NM_001267550.2(TTN):c.96873T>A (p.Thr32291=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250782	NM_001267550.2(TTN):c.39798A>T (p.Pro13266=)	TTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3250771	NM_001267550.2(TTN):c.93426C>T (p.Gly31142=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250768	NM_001267550.2(TTN):c.39800A>T (p.Glu13267Val)	TTN (E10833V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3250767	NM_001267550.2(TTN):c.39807A>T (p.Pro13269=)	TTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3247478	NC_000002.11:g.(?_178257518)_(179914668_?)del	AGPS, CCDC141 +10 more	Deletion	not provided	GPathogenic
Select item 3247312	NC_000002.11:g.(?_179296804)_(179454920_?)dup	PRKRA, TTN +3 more	Duplication	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247311	NC_000002.11:g.(?_179434909)_(179455669_?)dup	TTN	Duplication	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247310	NC_000002.11:g.(?_179656837)_(179658806_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247309	NC_000002.11:g.(?_179402448)_(179404297_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247308	NC_000002.11:g.(?_179392363)_(179408795_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GPathogenic
Select item 3247307	NC_000002.11:g.(?_179442353)_(179446814_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247306	NC_000002.11:g.(?_179583571)_(179667566_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247305	NC_000002.11:g.(?_179459938)_(179462498_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247303	NC_000002.11:g.(?_179460406)_(179462893_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247302	NC_000002.11:g.(?_179612393)_(179642433_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247301	NC_000002.11:g.(?_179476063)_(179485304_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247300	NC_000002.11:g.(?_179398234)_(179517183_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247299	NC_000002.11:g.(?_179533394)_(179534341_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247298	NC_000002.11:g.(?_179544193)_(179549076_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247297	NC_000002.11:g.(?_179404280)_(179552552_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247296	NC_000002.11:g.(?_179605162)_(179607529_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247295	NC_000002.11:g.(?_179424791)_(179429241_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247294	NC_000002.11:g.(?_179423747)_(179424505_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247292	NC_000002.11:g.(?_179296824)_(179623919_?)dup	FKBP7, PJVK +3 more	Duplication	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247291	NC_000002.11:g.(?_179623691)_(179639949_?)dup	TTN	Duplication	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247290	NC_000002.11:g.(?_179485809)_(179486755_?)dup	TTN	Duplication	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247289	NC_000002.11:g.(?_179296824)_(179502166_?)dup	FKBP7, PJVK +3 more	Duplication	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247288	NC_000002.11:g.(?_179516160)_(179518254_?)dup	TTN	Duplication	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247287	NC_000002.11:g.(?_179552818)_(179563661_?)dup	TTN	Duplication	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247286	NC_000002.11:g.(?_179392981)_(179393966_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247285	NC_000002.11:g.(?_179664194)_(179669369_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247284	NC_000002.11:g.(?_179516803)_(179518254_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247283	NC_000002.11:g.(?_179515458)_(179528845_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247281	NC_000002.11:g.(?_179516591)_(179548829_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3242609	NM_001267550.2(TTN):c.11662G>T (p.Gly3888Ter)	TTN (G3525* +4 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3242037	NM_001267550.2(TTN):c.31433C>G (p.Ala10478Gly)	TTN (A10161G +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9	GUncertain significance
Select item 3241973	NM_001267550.2(TTN):c.106070_106071del (p.Tyr35357fs)	LOC129935182, TTN +1 more (Y26292fs +5 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GPathogenic
Select item 3239596	NM_001267550.2(TTN):c.65194_65197del (p.Phe21732fs)	TTN, TTN-AS1 (F12667fs +5 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3239561	NM_001267550.2(TTN):c.15777A>G (p.Glu5259=)	TTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3239556	NM_133379.5(TTN):c.10494G>C (p.Trp3498Cys)	TTN (W3498C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3239515	NM_001267550.2(TTN):c.88053T>C (p.Ser29351=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239485	NM_001267550.2(TTN):c.32721A>C (p.Arg10907Ser)	TTN (R10590S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3239420	NM_001267550.2(TTN):c.37186G>A (p.Val12396Ile)	TTN (V12396I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3239419	NM_001267550.2(TTN):c.37939G>A (p.Val12647Ile)	TTN (V12647I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3239415	NM_001267550.2(TTN):c.791_793del (p.Arg264_Ser265delinsThr)	TTN	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 3239410	NM_001267550.2(TTN):c.65856dup (p.Val21953fs)	TTN, TTN-AS1 (V12888fs +5 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3239407	NM_001267550.2(TTN):c.44580G>A (p.Glu14860=)	TTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239390	NM_001267550.2(TTN):c.64005G>T (p.Glu21335Asp)	TTN, TTN-AS1 (E12270D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239238	NM_133379.5(TTN):c.14686A>T (p.Thr4896Ser)	LOC126806432, TTN (T4896S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3239189	NM_001267550.2(TTN):c.25574A>T (p.Gln8525Leu)	TTN (Q7281L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3239186	NM_001267550.2(TTN):c.81133T>C (p.Phe27045Leu)	TTN, TTN-AS1 (F17980L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239175	NM_001267550.2(TTN):c.37873+4T>G	TTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3239008	NM_133379.5(TTN):c.16322G>A (p.Arg5441Gln)	TTN (R5441Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3238950	NM_001267550.2(TTN):c.100868del (p.Pro33623fs)	TTN, TTN-AS1 (P24558fs +5 more)	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3238949	NM_001267550.2(TTN):c.46905T>A (p.Tyr15635Ter)	TTN, TTN-AS1 (Y13067* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3238946	NM_001267550.2(TTN):c.58780del (p.Asp19594fs)	TTN, TTN-AS1 (D10529fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3238859	NM_001267550.2(TTN):c.12347C>A (p.Ser4116Tyr)	TTN (S3753Y +4 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy	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 3238757	NM_001267550.2(TTN):c.15361T>C (p.Tyr5121His)	TTN (Y3877H +2 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy	GUncertain significance
Select item 3238655	NM_001267550.2(TTN):c.61067del (p.Pro20356fs)	TTN, TTN-AS1 (P11291fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3237498	NM_001267550.2(TTN):c.313A>G (p.Asn105Asp)	TTN (N105D)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy	GUncertain significance
Select item 3237414	NM_001267550.2(TTN):c.100994G>A (p.Gly33665Asp)	TTN, TTN-AS1 (G24600D +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9	GUncertain significance
Select item 3236811	NM_001267550.2(TTN):c.49455C>G (p.Tyr16485Ter)	TTN, TTN-AS1 (Y13917* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3236652	NM_001267550.2(TTN):c.47385dup (p.Glu15796Ter)	TTN, TTN-AS1 (E13228* +5 more)	Duplication (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3236597	NM_001267550.2(TTN):c.101376T>G (p.Tyr33792Ter)	TTN, TTN-AS1 (Y24727* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3236596	NM_001267550.2(TTN):c.69291C>A (p.Cys23097Ter)	TTN, TTN-AS1 (C14032* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	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 3236087	NM_001267550.2(TTN):c.61408_61409del (p.Ile20470fs)	TTN, TTN-AS1 (I11405fs +5 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3235699	NM_001267550.2(TTN):c.69217_69218del (p.Lys23073fs)	TTN, TTN-AS1 (K14008fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3235138	NM_001267550.2(TTN):c.54985dup (p.Ile18329fs)	TTN, TTN-AS1 (I15761fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3235082	NM_001267550.2(TTN):c.104408C>G (p.Ser34803Ter)	TTN, TTN-AS1 (S25738* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3235041	NM_001267550.2(TTN):c.68555A>T (p.Asn22852Ile)	TTN, TTN-AS1 (N13787I +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GUncertain significance
Select item 3234813	NM_001267550.2(TTN):c.62851G>C (p.Glu20951Gln)	TTN, TTN-AS1 (E11886Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234806	NM_001267550.2(TTN):c.97814A>G (p.Gln32605Arg)	TTN, TTN-AS1 (Q23540R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234779	NM_133379.5(TTN):c.14201C>G (p.Ala4734Gly)	LOC126806432, TTN (A4734G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3234765	NM_001267550.2(TTN):c.63360T>C (p.Asn21120=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234748	NM_001267550.2(TTN):c.55735C>A (p.Pro18579Thr)	TTN, TTN-AS1 (P16011T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234684	NM_001267550.2(TTN):c.24951C>G (p.Asn8317Lys)	TTN (N7073K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3234553	NM_133379.5(TTN):c.11115A>G (p.Leu3705=)	TTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234458	NM_001267550.2(TTN):c.66860G>A (p.Gly22287Glu)	TTN, TTN-AS1 (G13222E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234417	NM_001267550.2(TTN):c.36031C>T (p.Pro12011Ser)	TTN (P12011S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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