"Invitae"[submitter] AND "LOC126806433"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 653529	NC_000002.12:g.(?_178663423)_(178804652_?)del	LOC126806428, LOC126806429 +6 more	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1119763	NM_001267550.2(TTN):c.7473A>G (p.Val2491=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 467471	NM_001267550.2(TTN):c.7469G>T (p.Arg2490Leu)	LOC126806433, TTN (R2490L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 192071	NM_001267550.2(TTN):c.7468C>T (p.Arg2490Cys)	LOC126806433, TTN (R2490C +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 514954	NM_001267550.2(TTN):c.7458G>A (p.Lys2486=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1097743	NM_001267550.2(TTN):c.7455C>T (p.Ile2485=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1052411	NM_001267550.2(TTN):c.7450C>T (p.Gln2484Ter)	LOC126806433, TTN (Q2438* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 513361	NM_001267550.2(TTN):c.7416T>C (p.Asp2472=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 2178702	NM_001267550.2(TTN):c.7401G>A (p.Lys2467=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1613013	NM_001267550.2(TTN):c.7398T>C (p.Cys2466=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 228148	NM_001267550.2(TTN):c.7392T>C (p.Leu2464=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 744138	NM_001267550.2(TTN):c.7389G>A (p.Val2463=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1588155	NM_001267550.2(TTN):c.7386T>G (p.Ala2462=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 755260	NM_001267550.2(TTN):c.7383G>A (p.Lys2461=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 1100479	NM_001267550.2(TTN):c.7377C>A (p.Gly2459=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 202544	NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs)	LOC126806433, TTN (N2409fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 332947	NM_001267550.2(TTN):c.7368G>C (p.Val2456=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 404758	NM_001267550.2(TTN):c.7365T>G (p.Asn2455Lys)	LOC126806433, TTN (N2455K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 799579	NM_001267550.2(TTN):c.7362T>A (p.Val2454=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1901588	NM_001267550.2(TTN):c.7356A>G (p.Lys2452=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 404946	NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)	LOC126806433, TTN (V2447M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 1555842	NM_001267550.2(TTN):c.7338C>T (p.Asp2446=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2921676	NM_001267550.2(TTN):c.7332dup (p.Val2445fs)	LOC126806433, TTN (V2445fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
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 1560815	NM_001267550.2(TTN):c.7331-8T>C	LOC126806433, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2023870	NM_001267550.2(TTN):c.7331-10G>A	LOC126806433, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1284473	NM_001267550.2(TTN):c.7331-11T>C	LOC126806433, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2948663	NM_001267550.2(TTN):c.7331-20GT[5]	LOC126806433, TTN	Microsatellite (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 517784	NM_001267550.2(TTN):c.7331-16G>T	LOC126806433, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 2166266	NM_001267550.2(TTN):c.7331-18G>C	LOC126806433, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2040692	NM_001267550.2(TTN):c.7331-18G>T	LOC126806433, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1906627	NM_001267550.2(TTN):c.7330+16A>G	LOC126806433, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1639436	NM_001267550.2(TTN):c.7330+15T>G	LOC126806433, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1549446	NM_001267550.2(TTN):c.7330+15T>C	LOC126806433, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
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 2029633	NM_001267550.2(TTN):c.7330+8C>T	LOC126806433, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1105807	NM_001267550.2(TTN):c.7311T>C (p.Ser2437=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2941984	NM_001267550.2(TTN):c.7290A>G (p.Pro2430=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1933218	NM_001267550.2(TTN):c.7275C>G (p.Tyr2425Ter)	LOC126806433, TTN (Y2379* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 535316	NM_001267550.2(TTN):c.7246G>A (p.Asp2416Asn)	LOC126806433, TTN (D2416N +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 166308	NM_001267550.2(TTN):c.7242T>C (p.Ile2414=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 756871	NM_001267550.2(TTN):c.7239C>T (p.Leu2413=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 516801	NM_001267550.2(TTN):c.7234C>T (p.Leu2412=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 238836	NM_001267550.2(TTN):c.7229A>C (p.His2410Pro)	LOC126806433, TTN (H2410P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 510553	NM_001267550.2(TTN):c.7203T>C (p.Val2401=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1663337	NM_001267550.2(TTN):c.7198A>C (p.Arg2400=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1428611	NM_001267550.2(TTN):c.7177C>T (p.Gln2393Ter)	LOC126806433, TTN (Q2347* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 709024	NM_001267550.2(TTN):c.7176C>T (p.Gly2392=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 47377	NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser)	LOC126806433, TTN (G2392S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47376	NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 332948	NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)	LOC126806433, TTN (G2386S +1 more)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +8 more	GConflicting classifications of pathogenicity
Select item 1562719	NM_001267550.2(TTN):c.7152G>A (p.Val2384=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 404753	NM_001267550.2(TTN):c.7148del (p.Ser2383fs)	LOC126806433, TTN (S2337fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1102264	NM_001267550.2(TTN):c.7134A>G (p.Lys2378=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1620838	NM_001267550.2(TTN):c.7122G>A (p.Gln2374=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1920601	NM_001267550.2(TTN):c.7113C>T (p.Asp2371=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1080726	NM_001267550.2(TTN):c.7107G>A (p.Glu2369=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1506623	NM_001267550.2(TTN):c.7104_7105del (p.Cys2368_Glu2369delinsTer)	LOC126806433, TTN	Microsatellite (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 47365	NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)	LOC126806433, TTN (R2354H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 166310	NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)	LOC126806433, TTN (R2354C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 1597368	NM_001267550.2(TTN):c.7058-4A>G	LOC126806433, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2946536	NM_001267550.2(TTN):c.7058-11A>G	LOC126806433, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1667959	NM_001267550.2(TTN):c.7058-11A>C	LOC126806433, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 669708	NM_001267550.2(TTN):c.7058-17C>T	LOC126806433, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 2031648	NM_001267550.2(TTN):c.7057+19del	LOC126806433, TTN	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1577296	NM_001267550.2(TTN):c.7057+19G>T	LOC126806433, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 750259	NM_001267550.2(TTN):c.7057+8C>T	LOC126806433, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 766187	NM_001267550.2(TTN):c.7057+7C>A	LOC126806433, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1495425	NM_001267550.2(TTN):c.7057+2T>C	LOC126806433, TTN	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
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 2931815	NM_001267550.2(TTN):c.7057+1G>C	LOC126806433, TTN	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 873434	NM_001267550.2(TTN):c.7057+1G>A	LOC126806433, TTN	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 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 937120	NM_001267550.2(TTN):c.7031dup (p.Thr2345fs)	LOC126806433, TTN (T2345fs +1 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1623557	NM_001267550.2(TTN):c.7026G>A (p.Gly2342=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 467431	NM_001267550.2(TTN):c.7026del (p.Lys2344fs)	LOC126806433, TTN (K2344fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 467428	NM_001267550.2(TTN):c.7023C>T (p.Asp2341=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 137824	NM_001267550.2(TTN):c.7020C>T (p.Ile2340=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 467425	NM_001267550.2(TTN):c.7011C>T (p.Ser2337=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
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 2938479	NM_001267550.2(TTN):c.6996C>T (p.Asp2332=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2036710	NM_001267550.2(TTN):c.6990G>A (p.Lys2330=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1623394	NM_001267550.2(TTN):c.6987C>A (p.Thr2329=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 47357	NM_001267550.2(TTN):c.6981T>C (p.Asp2327=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 467424	NM_001267550.2(TTN):c.6979G>T (p.Asp2327Tyr)	LOC126806433, TTN (D2327Y +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2095909	NM_001267550.2(TTN):c.6972G>T (p.Thr2324=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 506751	NM_001267550.2(TTN):c.6972G>A (p.Thr2324=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 191143	NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)	LOC126806433, TTN (R2320H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 467418	NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)	LOC126806433, TTN (R2317H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 501488	NM_001267550.2(TTN):c.6945A>G (p.Thr2315=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 1185902	NM_001267550.2(TTN):c.6942T>C (p.Ile2314=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 680387	NM_001267550.2(TTN):c.6927T>C (p.Asn2309=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 192073	NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys)	LOC126806433, TTN (N2309K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 2929085	NM_001267550.2(TTN):c.6915G>A (p.Glu2305=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2944147	NM_001267550.2(TTN):c.6900T>C (p.Tyr2300=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 203150	NM_001267550.2(TTN):c.6899A>G (p.Tyr2300Cys)	LOC126806433, TTN (Y2300C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 2951109	NM_001267550.2(TTN):c.6894A>G (p.Lys2298=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1755146	NM_001267550.2(TTN):c.6870A>T (p.Val2290=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 795669	NM_001267550.2(TTN):c.6870A>C (p.Val2290=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 511250	NM_001267550.2(TTN):c.6870A>G (p.Val2290=)	LOC126806433, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +3 more	GLikely benign

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