ClinVar for Gene (Select 126806421) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 255

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3223339	NM_001267550.2(TTN):c.96585T>C (p.Asp32195=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2954258	NM_001267550.2(TTN):c.96905-1G>A	LOC126806421, TTN +1 more	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2953914	NM_001267550.2(TTN):c.96789T>A (p.Thr32263=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953633	NM_001267550.2(TTN):c.96681C>G (p.Leu32227=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2952448	NM_001267550.2(TTN):c.96774A>G (p.Thr32258=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2951935	NM_001267550.2(TTN):c.96311-16_96311-15del	LOC126806421, TTN +1 more	Deletion (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2951683	NM_001267550.2(TTN):c.96311-20T>A	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2949857	NM_001267550.2(TTN):c.96311-20T>G	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2948367	NM_001267550.2(TTN):c.96525C>G (p.Tyr32175Ter)	LOC126806421, TTN +1 more (Y23235* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2948131	NM_001267550.2(TTN):c.96897C>T (p.Asp32299=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2947026	NM_001267550.2(TTN):c.96453A>G (p.Ala32151=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2944376	NM_001267550.2(TTN):c.96158_96177dup (p.Ile32060fs)	LOC126806421, TTN +1 more (I23120fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2943765	NM_001267550.2(TTN):c.96117T>C (p.Ser32039=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2943579	NM_001267550.2(TTN):c.96069T>G (p.Thr32023=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2942097	NM_001267550.2(TTN):c.96417T>C (p.Asn32139=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2941936	NM_001267550.2(TTN):c.96507T>C (p.Leu32169=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2939594	NM_001267550.2(TTN):c.96720G>A (p.Glu32240=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2937343	NM_001267550.2(TTN):c.96904+10A>G	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2936629	NM_001267550.2(TTN):c.96882C>T (p.Ala32294=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2928471	NM_001267550.2(TTN):c.96852T>C (p.Gly32284=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2926929	NM_001267550.2(TTN):c.96798C>A (p.Ser32266=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2926861	NM_001267550.2(TTN):c.96904+13T>C	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2651589	NM_001267550.2(TTN):c.96440C>T (p.Ala32147Val)	LOC126806421, TTN +1 more (A23082V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651588	NM_001267550.2(TTN):c.96522G>C (p.Met32174Ile)	LOC126806421, TTN +1 more (M23109I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2586580	NM_001267550.2(TTN):c.96297T>C (p.Leu32099=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 2566401	NM_001267550.2(TTN):c.96075C>T (p.Thr32025=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2502626	NM_001267550.2(TTN):c.96628G>T (p.Glu32210Ter)	LOC126806421, TTN +1 more (E23145* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2451959	NM_001267550.2(TTN):c.96735C>T (p.Gly32245=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2451955	NM_001267550.2(TTN):c.96711T>C (p.Tyr32237=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 2438328	NM_001267550.2(TTN):c.96947T>C (p.Ile32316Thr)	LOC126806421, TTN +1 more (I23251T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438101	NM_001267550.2(TTN):c.96574G>A (p.Glu32192Lys)	LOC126806421, TTN +1 more (E23127K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438031	NM_001267550.2(TTN):c.96413A>T (p.Asn32138Ile)	LOC126806421, TTN +1 more (N23073I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437800	NM_001267550.2(TTN):c.96125C>T (p.Pro32042Leu)	LOC126806421, TTN +1 more (P22977L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437751	NM_001267550.2(TTN):c.96803A>G (p.Asn32268Ser)	LOC126806421, TTN +1 more (N23203S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437749	NM_001267550.2(TTN):c.96356G>A (p.Arg32119Lys)	LOC126806421, TTN +1 more (R23054K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437700	NM_001267550.2(TTN):c.96854T>C (p.Val32285Ala)	LOC126806421, TTN +1 more (V23220A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437580	NM_001267550.2(TTN):c.96919G>A (p.Asp32307Asn)	TTN-AS1, LOC126806421 +1 more (D23242N +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2437521	NM_001267550.2(TTN):c.96503G>A (p.Gly32168Glu)	LOC126806421, TTN +1 more (G23103E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437494	NM_001267550.2(TTN):c.96049G>A (p.Ala32017Thr)	LOC126806421, TTN +1 more (A22952T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437489	NM_001267550.2(TTN):c.96830T>A (p.Ile32277Lys)	LOC126806421, TTN +1 more (I23212K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169022	NM_001267550.2(TTN):c.96905-20G>A	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2142197	NM_001267550.2(TTN):c.96944_96945dup (p.Ile32316fs)	TTN-AS1, LOC126806421 +1 more (I30675fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2125429	NM_001267550.2(TTN):c.96742A>T (p.Arg32248Ter)	LOC126806421, TTN +1 more (R23375* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2114231	NM_001267550.2(TTN):c.96901del (p.Arg32301fs)	LOC126806421, TTN +1 more (R23361fs +5 more)	Deletion (frameshift variant)	TTN-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 2104046	NM_001267550.2(TTN):c.96588A>G (p.Ala32196=)	TTN-AS1, LOC126806421 +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2093532	NM_001267550.2(TTN):c.96519C>T (p.Thr32173=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2089483	NM_001267550.2(TTN):c.96110_96113del (p.Ser32037fs)	LOC126806421, TTN +1 more (S22972fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 1974846	NM_001267550.2(TTN):c.96228T>C (p.Asn32076=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1961557	NM_001267550.2(TTN):c.96310+20T>C	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1933143	NM_001267550.2(TTN):c.96904+17C>A	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1929281	NM_001267550.2(TTN):c.96838C>T (p.Gln32280Ter)	LOC126806421, TTN +1 more (Q29712* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 1807513	NM_001267550.2(TTN):c.96082G>A (p.Ala32028Thr)	LOC126806421, TTN +1 more (A22963T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1756342	NM_001267550.2(TTN):c.96850G>C (p.Gly32284Arg)	LOC126806421, TTN +1 more (G23344R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1756335	NM_001267550.2(TTN):c.96819C>T (p.Tyr32273=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GLikely benign
Select item 1756304	NM_001267550.2(TTN):c.96789T>C (p.Thr32263=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1756275	NM_001267550.2(TTN):c.96680_96684del (p.Leu32227fs)	LOC126806421, TTN +1 more (L23162fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 1756264	NM_001267550.2(TTN):c.96605T>C (p.Val32202Ala)	LOC126806421, TTN +1 more (V23137A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1756262	NM_001267550.2(TTN):c.96599C>T (p.Ser32200Leu)	LOC126806421, TTN +1 more (S23135L +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1756227	NM_001267550.2(TTN):c.96586G>A (p.Ala32196Thr)	LOC126806421, TTN +1 more (A23131T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1756188	NM_001267550.2(TTN):c.96477C>A (p.Cys32159Ter)	LOC126806421, TTN +1 more (C23094* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 1756181	NM_001267550.2(TTN):c.96442G>A (p.Ala32148Thr)	LOC126806421, TTN +1 more (A29580T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1756177	NM_001267550.2(TTN):c.96432G>T (p.Lys32144Asn)	LOC126806421, TTN +1 more (K23271N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1756176	NM_001267550.2(TTN):c.96416A>G (p.Asn32139Ser)	LOC126806421, TTN +1 more (N23266S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1756174	NM_001267550.2(TTN):c.96414C>A (p.Asn32138Lys)	LOC126806421, TTN +1 more (N29570K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1756090	NM_001267550.2(TTN):c.96294C>T (p.Val32098=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1756009	NM_001267550.2(TTN):c.96153G>A (p.Gln32051=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 1755974	NM_001267550.2(TTN):c.96089C>A (p.Ala32030Asp)	LOC126806421, TTN +1 more (A23090D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1755973	NM_001267550.2(TTN):c.96085G>A (p.Gly32029Arg)	LOC126806421, TTN +1 more (G22964R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1755963	NM_001267550.2(TTN):c.96048T>C (p.Leu32016=)	TTN-AS1, LOC126806421 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1693833	NM_001267550.2(TTN):c.96428A>G (p.Glu32143Gly)	LOC126806421, TTN +1 more (E23078G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693832	NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser)	LOC126806421, TTN +1 more (P23247S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1664204	NM_001267550.2(TTN):c.96229C>A (p.Arg32077=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1661731	NM_001267550.2(TTN):c.96042T>G (p.Leu32014=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1649867	NM_001267550.2(TTN):c.96468T>G (p.Thr32156=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1645125	NM_001267550.2(TTN):c.96837A>T (p.Ala32279=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1640931	NM_001267550.2(TTN):c.96904+13T>G	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1618619	NM_001267550.2(TTN):c.96879A>C (p.Thr32293=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1587063	NM_001267550.2(TTN):c.96540G>C (p.Leu32180=)	TTN-AS1, LOC126806421 +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1586175	NM_001267550.2(TTN):c.96816A>G (p.Gln32272=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1571262	NM_001267550.2(TTN):c.96570T>C (p.Pro32190=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1553841	NM_001267550.2(TTN):c.96858A>G (p.Ser32286=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1521122	NM_001267550.2(TTN):c.96731del (p.Ala32244fs)	LOC126806421, TTN +1 more (A23304fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 1518767	NM_001267550.2(TTN):c.96679del (p.Leu32227fs)	LOC126806421, TTN +1 more (L23162fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 1505968	NM_001267550.2(TTN):c.96824_96831del (p.Leu32274_Phe32275insTer)	LOC126806421, TTN +1 more	Deletion (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 1471017	NM_001267550.2(TTN):c.96746G>A (p.Trp32249Ter)	LOC126806421, TTN +1 more (W30608* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 1460556	NM_001267550.2(TTN):c.96506T>C (p.Leu32169Pro)	LOC126806421, TTN +1 more (L23104P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 1338801	NM_001267550.2(TTN):c.96464del (p.Val32155fs)	LOC126806421, TTN +1 more (V23090fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 1329224	NM_001267550.2(TTN):c.96593T>C (p.Leu32198Pro)	LOC126806421, TTN +1 more (L23133P +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1325278	NM_001267550.2(TTN):c.96420C>A (p.Tyr32140Ter)	LOC126806421, TTN +1 more (Y23075* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 1302557	NM_001267550.2(TTN):c.96708A>G (p.Gly32236=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1302493	NM_001267550.2(TTN):c.96433C>T (p.Arg32145Cys)	LOC126806421, TTN +1 more (R23080C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285013	NM_001267550.2(TTN):c.96566A>T (p.Glu32189Val)	LOC126806421, TTN +1 more (E23124V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1284608	NM_001267550.2(TTN):c.96475T>C (p.Cys32159Arg)	LOC126806421, TTN +1 more (C23094R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220387	NM_001267550.2(TTN):c.96904+34T>A	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205128	NM_001267550.2(TTN):c.96879A>G (p.Thr32293=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1191780	NM_001267550.2(TTN):c.96904+18dup	LOC126806421, TTN +1 more	Duplication (intron variant)	not provided	GLikely benign
Select item 1172864	NM_001267550.2(TTN):c.96871A>T (p.Thr32291Ser)	LOC126806421, TTN +1 more (T23226S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1143751	NM_001267550.2(TTN):c.96537G>A (p.Val32179=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1130400	NM_001267550.2(TTN):c.96717C>T (p.Leu32239=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1128240	NM_001267550.2(TTN):c.96708A>T (p.Gly32236=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign

<< First< Prev

Page of 3