ClinVar for PubMed (Select 26701604) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953097	NM_001267550.2(TTN):c.27385dup (p.Leu9129fs)	TTN (L8812fs +2 more)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2952958	NM_001267550.2(TTN):c.42355dup (p.Glu14119fs)	TTN (E12478fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2952725	NM_001267550.2(TTN):c.7330+1_7330+8del	LOC126806433, TTN	Deletion (splice donor variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2952422	NM_001267550.2(TTN):c.43418del (p.Asp14473fs)	TTN (D5408fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2952227	NM_001267550.2(TTN):c.8137_8138del (p.Leu2713fs)	TTN (L2667fs +1 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2952000	NM_001267550.2(TTN):c.24811G>T (p.Glu8271Ter)	TTN (E7027* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2951862	NM_001267550.2(TTN):c.34258G>T (p.Glu11420Ter)	TTN (E11103* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2951831	NM_001267550.2(TTN):c.43213+1G>A	TTN	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2951788	NM_001267550.2(TTN):c.26952del (p.Thr8984_Val8985insTer)	TTN	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2951577	NM_001267550.2(TTN):c.13540C>T (p.Gln4514Ter)	TTN (Q4197* +4 more)	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2951470	NM_001267550.2(TTN):c.20719del (p.Glu6907fs)	TTN (E5663fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2951407	NM_001267550.2(TTN):c.27713G>A (p.Trp9238Ter)	TTN (W9238* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2951356	NM_001267550.2(TTN):c.38792-1_38792insA	TTN	Insertion (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2951240	NM_001267550.2(TTN):c.18709_18710del (p.Arg6237fs)	LOC126806430, TTN (R6237fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2951239	NM_001267550.2(TTN):c.14367_14368insT (p.Thr4790fs)	TTN (T3546fs +5 more)	Insertion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2950750	NM_001267550.2(TTN):c.13340C>A (p.Ser4447Ter)	TTN (S4084* +4 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2950740	NM_001267550.2(TTN):c.28909_28922del (p.Cys9636_Ser9637insTer)	TTN	Deletion (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2950718	NM_001267550.2(TTN):c.11191del (p.Ser3731fs)	TTN (S3731fs +1 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2950618	NM_001267550.2(TTN):c.40489G>T (p.Glu13497Ter)	TTN (E4557* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2950538	NM_001267550.2(TTN):c.43372del (p.Asp14458fs)	TTN (D11890fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2950347	NM_001267550.2(TTN):c.27714G>A (p.Trp9238Ter)	TTN (W7994* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2950215	NM_001267550.2(TTN):c.41043del (p.Pro13682fs)	TTN (P12041fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2950056	NM_001267550.2(TTN):c.43018del (p.Ile14340fs)	TTN (I11772fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2950045	NM_001267550.2(TTN):c.45090del (p.Ala15031fs)	LOC126806427, TTN (A13390fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2949981	NM_001267550.2(TTN):c.7005dup (p.Tyr2336fs)	LOC126806433, TTN (Y2290fs +1 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2949674	NM_001267550.2(TTN):c.46385_46406dup (p.Ala15471fs)	TTN, TTN-AS1 (A6406fs +5 more)	Duplication (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2949446	NM_001267550.2(TTN):c.9718dup (p.Gln3240fs)	TTN (Q3194fs +1 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2949386	NM_001267550.2(TTN):c.12251T>G (p.Leu4084Ter)	TTN (L3721* +4 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2949383	NM_001267550.2(TTN):c.13201del (p.Arg4401fs)	TTN (R4230fs +4 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2949294	NM_001267550.2(TTN):c.31656dup (p.Val10553fs)	TTN (V10553fs +2 more)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2949274	NM_001267550.2(TTN):c.12482del (p.Phe4161fs)	TTN (F3798fs +4 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2949251	NM_001267550.2(TTN):c.42540del (p.Lys14180fs)	TTN (K11612fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2948963	NM_001267550.2(TTN):c.46344_46348dup (p.Lys15450delinsIleTer)	TTN, TTN-AS1	Duplication (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2948919	NM_001267550.2(TTN):c.46966+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2948823	NM_001267550.2(TTN):c.10270C>T (p.Gln3424Ter)	TTN (Q3424* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2948801	NM_001267550.2(TTN):c.10825G>T (p.Glu3609Ter)	TTN (E3438* +1 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2948576	NM_001267550.2(TTN):c.46514_46517dup (p.Asp15506fs)	TTN, TTN-AS1 (D13865fs +5 more)	Duplication (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2948520	NM_001267550.2(TTN):c.43777dup (p.Gln14593fs)	TTN (Q12025fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2948366	NM_001267550.2(TTN):c.42993del (p.Phe14331fs)	TTN (F11763fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2948177	NM_001267550.2(TTN):c.46831_46837dup (p.Ile15613fs)	TTN, TTN-AS1 (I13972fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2948119	NM_001267550.2(TTN):c.43861del (p.Asp14621fs)	TTN (D12053fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2948049	NM_001267550.2(TTN):c.9192del (p.Lys3065fs)	TTN (K3019fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2947904	NM_001267550.2(TTN):c.33289_33290del (p.Ile11097fs)	TTN (I10780fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2947799	NM_001267550.2(TTN):c.45495T>G (p.Tyr15165Ter)	LOC126806427, TTN (Y12597* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2947791	NM_001267550.2(TTN):c.22427T>A (p.Leu7476Ter)	TTN (L7476* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2947610	NM_001267550.2(TTN):c.35974A>T (p.Lys11992Ter)	TTN (K11992*)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2947578	NM_001267550.2(TTN):c.28379del (p.Asp9460fs)	TTN (D9143fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2947529	NM_001267550.2(TTN):c.20008del (p.Phe6669_Val6670insTer)	LOC126806429, TTN	Deletion (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2947465	NM_001267550.2(TTN):c.23811del (p.Thr7938fs)	TTN (T7621fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2947411	NM_001267550.2(TTN):c.7331-1G>A	LOC126806433, TTN	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2947268	NM_001267550.2(TTN):c.22321C>T (p.Arg7441Ter)	TTN (R6197* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2947152	NM_001267550.2(TTN):c.8997del (p.Ser2998_Tyr2999insTer)	TTN	Deletion (nonsense)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2947114	NM_001267550.2(TTN):c.28993del (p.Ser9665fs)	TTN (S9665fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2946585	NM_001267550.2(TTN):c.28469_28488del (p.Leu9490fs)	TTN (L8246fs +2 more)	Deletion (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2946334	NM_001267550.2(TTN):c.13446T>A (p.Tyr4482Ter)	TTN (Y4482* +4 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2946259	NM_001267550.2(TTN):c.16713del (p.Pro5572fs)	TTN (P5255fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2946212	NM_001267550.2(TTN):c.40691_40713dup (p.Pro13572fs)	TTN (P11004fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2946148	NM_001267550.2(TTN):c.35893G>T (p.Glu11965Ter)	TTN (E11965*)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2945895	NM_001267550.2(TTN):c.31479del (p.Phe10493fs)	TTN (F10493fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2945892	NM_001267550.2(TTN):c.21683-2A>G	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2945815	NM_001267550.2(TTN):c.43214-1G>C	TTN	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2945578	NM_001267550.2(TTN):c.43213+1G>T	TTN	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2945547	NM_001267550.2(TTN):c.21404-1G>C	LOC126806428, TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2945480	NM_001267550.2(TTN):c.7057+1del	LOC126806433, TTN	Deletion (splice donor variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2945412	NM_001267550.2(TTN):c.39625+1G>C	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2945281	NM_001267550.2(TTN):c.46736_46745del (p.Val15579fs)	TTN, TTN-AS1 (V15579fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2945252	NM_001267550.2(TTN):c.43655C>A (p.Ser14552Ter)	TTN (S5487* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2945132	NM_001267550.2(TTN):c.25064-2A>G	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2944865	NM_001267550.2(TTN):c.35630-1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2944709	NM_001267550.2(TTN):c.46017dup (p.Glu15340fs)	TTN (E6467fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2944650	NM_001267550.2(TTN):c.27495dup (p.Ser9166fs)	TTN (S9166fs +2 more)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2944649	NM_001267550.2(TTN):c.46429+2T>C	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2944581	NM_001267550.2(TTN):c.13115_13118dup (p.Gln4373fs)	TTN (Q4135fs +4 more)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2944542	NM_001267550.2(TTN):c.40751_40769del (p.Leu13584fs)	TTN (L13584fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2944285	NM_001267550.2(TTN):c.44281+1del	TTN	Deletion (splice donor variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2944187	NM_001267550.2(TTN):c.27976G>T (p.Gly9326Ter)	TTN (G9009* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2944158	NM_001267550.2(TTN):c.29070dup (p.Lys9691fs)	TTN (K9691fs +2 more)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2944149	NM_001267550.2(TTN):c.46723C>T (p.Gln15575Ter)	TTN, TTN-AS1 (Q6510* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2943469	NM_001267550.2(TTN):c.46430-2A>G	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2943189	NM_001267550.2(TTN):c.45355del (p.Ala15119fs)	LOC126806427, TTN (A15119fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2943084	NM_001267550.2(TTN):c.38876-2A>T	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2942802	NM_001267550.2(TTN):c.42484del (p.Val14162fs)	TTN (V12521fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2942682	NM_001267550.2(TTN):c.22034_22037del (p.Gln7345fs)	TTN (Q6101fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2942485	NM_001267550.2(TTN):c.46397dup (p.Asp15466fs)	TTN, TTN-AS1 (D15466fs +5 more)	Duplication (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2942214	NM_001267550.2(TTN):c.42897T>A (p.Tyr14299Ter)	TTN (Y5234* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2942190	NM_001267550.2(TTN):c.38708-15_38723del	TTN	Deletion (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2942100	NM_001267550.2(TTN):c.36202+1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2942050	NM_001267550.2(TTN):c.7042_7045dup (p.Leu2349Ter)	LOC126806433, TTN (L2349* +1 more)	Duplication (nonsense)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2941987	NM_001267550.2(TTN):c.36533-1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2941972	NM_001267550.2(TTN):c.12451C>T (p.Gln4151Ter)	TTN (Q3788* +4 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2941858	NM_001267550.2(TTN):c.8903-2A>T	TTN	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2941592	NM_001267550.2(TTN):c.13335del (p.Thr4446fs)	TTN (T4129fs +4 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2941574	NM_001267550.2(TTN):c.29695-1G>T	TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2941567	NM_001267550.2(TTN):c.38708-2A>C	TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2941324	NM_001267550.2(TTN):c.44603_44633del (p.Ala14868fs)	TTN (A5803fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2941154	NM_001267550.2(TTN):c.31669_31670del (p.Ala10557fs)	TTN (A10557fs +2 more)	Deletion (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2941114	NM_001267550.2(TTN):c.33892G>T (p.Glu11298Ter)	TTN (E11298* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2941100	NM_001267550.2(TTN):c.28753+1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2939902	NM_001267550.2(TTN):c.17482G>T (p.Glu5828Ter)	LOC126806431, TTN (E5511* +2 more)	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2939771	NM_001267550.2(TTN):c.46197_46198insGAACCCTT (p.Gln15400fs)	TTN (Q6460fs +5 more)	Insertion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance

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