ClinVar for Gene (Select 7273) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076197	NM_001267550.2(TTN):c.8641+19C>A	TTN	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
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 3076049	NM_001267550.2(TTN):c.13357_13358del (p.Glu4453fs)	TTN (E4090fs +4 more)	Deletion (frameshift variant +1 more)	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 3075978	NM_001267550.2(TTN):c.34312_34313insTTCT (p.Pro11438fs)	TTN (P11438fs)	Insertion (frameshift variant +1 more)	not specified	GLikely benign
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 3075832	NM_001267550.2(TTN):c.40791dup (p.Lys13598fs)	TTN (K11030fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075827	NM_001267550.2(TTN):c.9247G>A (p.Glu3083Lys)	TTN (E3037K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3075747	NM_001267550.2(TTN):c.3937A>T (p.Lys1313Ter)	LOC101927055, TTN (K1267* +1 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 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 3069194	NM_001267550.2(TTN):c.15085C>T (p.Arg5029Ter)	TTN (R3785* +2 more)	Single nucleotide variant (nonsense +1 more)	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 3068816	NM_001267550.2(TTN):c.26164G>A (p.Gly8722Arg)	TTN (G7478R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068815	NM_001267550.2(TTN):c.38657A>G (p.Glu12886Gly)	TTN (E12886G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3068814	NM_001267550.2(TTN):c.24595C>T (p.Pro8199Ser)	TTN (P6955S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068813	NM_001267550.2(TTN):c.1997C>T (p.Ala666Val)	TTN (A620V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068812	NM_001267550.2(TTN):c.21358A>G (p.Asn7120Asp)	LOC126806428, TTN (N5876D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3068808	NM_001267550.2(TTN):c.23772A>T (p.Lys7924Asn)	TTN (K6680N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068806	NM_001267550.2(TTN):c.1271_1276dup (p.Ala425_Val426insAlaAla)	TTN	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 3068805	NM_001267550.2(TTN):c.2117T>C (p.Val706Ala)	TTN (V660A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068804	NM_001267550.2(TTN):c.34345C>G (p.Pro11449Ala)	TTN (P11449A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 3068670	NM_001267550.2(TTN):c.9432C>T (p.Gly3144=)	TTN	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy	GUncertain significance
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 3068606	NM_001267550.2(TTN):c.3574C>T (p.Gln1192Ter)	TTN (Q1146* +1 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GPathogenic
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 3068036	NM_001267550.2(TTN):c.718G>T (p.Val240Phe)	TTN (V240F)	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 3067777	NM_001267550.2(TTN):c.26482+6_26482+12del	TTN	Deletion (intron variant)	not provided	GUncertain significance
Select item 3067776	NM_001267550.2(TTN):c.26482+2T>A	TTN	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
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 3067394	NM_001267550.2(TTN):c.16972G>T (p.Ala5658Ser)	LOC126806431, TTN (A4414S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3067352	NM_133379.5(TTN):c.14210C>G (p.Pro4737Arg)	LOC126806432, TTN (P4737R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3067288	NM_001267550.2(TTN):c.37753G>A (p.Val12585Met)	TTN (V12585M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3066457	NM_001267550.2(TTN):c.14314dup (p.Cys4772fs)	TTN (C3528fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3066455	NM_001267550.2(TTN):c.5829_5830delinsGT (p.Glu1944Ter)	TTN (E1898* +1 more)	Indel (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
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 3064472	NM_001267550.2(TTN):c.39985C>G (p.Pro13329Ala)	TTN (P13329A)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3064431	NM_001267550.2(TTN):c.22870G>T (p.Glu7624Ter)	TTN (E6380* +2 more)	Single nucleotide variant (nonsense +1 more)	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 3064010	NM_001267550.2(TTN):c.17584G>A (p.Glu5862Lys)	LOC126806431, TTN (E4618K +2 more)	Single nucleotide variant (missense variant +1 more)	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 3063815	NM_001267550.2(TTN):c.41213G>A (p.Gly13738Asp)	TTN (G11170D +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 3063772	NM_001267550.2(TTN):c.16055-16C>G	TTN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3063753	NM_001267550.2(TTN):c.34291+8A>G	TTN	Single nucleotide variant (intron 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 3063721	NM_001267550.2(TTN):c.13792G>C (p.Gly4598Arg)	TTN (G4235R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063720	NM_001267550.2(TTN):c.14704A>C (p.Asn4902His)	TTN (N3658H +2 more)	Single nucleotide variant (missense 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 3062660	GRCh37/hg19 2q31.2(chr2:179257725-180232128)x3	CCDC141, FKBP7 +6 more	Copy number gain	not specified	GUncertain significance
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 3062114	NM_001267550.2(TTN):c.21231G>A (p.Trp7077Ter)	LOC126806428, TTN (W5833* +2 more)	Single nucleotide variant (nonsense +1 more)	TTN-Related Disorders	GPathogenic
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 3061442	NM_001267550.2(TTN):c.37454-5T>G	TTN	Single nucleotide variant (intron variant)	TTN-related condition	GUncertain significance
Select item 3061437	NM_001267550.2(TTN):c.17797G>T (p.Gly5933Cys)	TTN (G4689C +2 more)	Single nucleotide variant (missense variant +1 more)	TTN-related condition	GUncertain significance
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 3061281	NM_001267550.2(TTN):c.20219G>T (p.Cys6740Phe)	LOC126806429, TTN (C5496F +2 more)	Single nucleotide variant (missense variant +1 more)	TTN-related condition	GUncertain significance
Select item 3061276	NM_001267550.2(TTN):c.40198A>G (p.Arg13400Gly)	TTN (R13400G)	Single nucleotide variant (missense variant +1 more)	TTN-related condition	GUncertain significance
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 3058939	NM_001267550.2(TTN):c.813T>A (p.Ile271=)	TTN	Single nucleotide variant (synonymous variant)	TTN-related condition	GLikely benign
Select item 3058752	NM_001267550.2(TTN):c.32655G>T (p.Met10885Ile)	TTN (M10568I +2 more)	Single nucleotide variant (missense variant +1 more)	TTN-related condition	GUncertain significance
Select item 3058591	NM_001267550.2(TTN):c.45349+8A>G	LOC126806427, TTN	Single nucleotide variant (intron variant)	TTN-related condition	GLikely benign
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 3057694	NM_001267550.2(TTN):c.34570C>A (p.Arg11524=)	TTN	Single nucleotide variant (synonymous variant +1 more)	TTN-related condition	GLikely benign
Select item 3055814	NM_133379.5(TTN):c.15213G>A (p.Glu5071=)	TTN	Single nucleotide variant (synonymous variant +1 more)	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 3055180	NM_001267550.2(TTN):c.26586G>A (p.Lys8862=)	TTN	Single nucleotide variant (synonymous variant +1 more)	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 3054442	NM_001267550.2(TTN):c.43201C>T (p.Leu14401=)	TTN	Single nucleotide variant (synonymous variant)	TTN-related condition	GLikely benign

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