Related gene-specific medical variations for Gene (Select 101927055) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 368

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3223280	NM_001267550.2(TTN):c.4773A>G (p.Lys1591=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3223276	NM_001267550.2(TTN):c.4646-5T>G	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3223264	NM_001267550.2(TTN):c.4257dup (p.Ala1420fs)	LOC101927055, TTN (A1374fs +1 more)	Duplication (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3223254	NM_001267550.2(TTN):c.3939del (p.Met1314fs)	LOC101927055, TTN (M1268fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype	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 3030531	NM_001267550.2(TTN):c.4938T>C (p.Asn1646=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	TTN-related disorder	GLikely benign
Select item 3025676	NM_001267550.2(TTN):c.4300C>T (p.Pro1434Ser)	LOC101927055, TTN (P1388S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2954510	NM_001267550.2(TTN):c.4057_4058del (p.Val1353fs)	LOC101927055, TTN (V1307fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954312	NM_001267550.2(TTN):c.4068A>G (p.Pro1356=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953473	NM_001267550.2(TTN):c.4766G>A (p.Trp1589Ter)	LOC101927055, TTN (W1543* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2952368	NM_001267550.2(TTN):c.3964-6T>C	LOC101927055, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2951189	NM_001267550.2(TTN):c.4059T>G (p.Val1353=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2951099	NM_001267550.2(TTN):c.3964-4G>T	LOC101927055, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2949983	NM_001267550.2(TTN):c.3838del (p.Ala1280fs)	LOC101927055, TTN (A1234fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2949060	NM_001267550.2(TTN):c.4645+8G>A	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2948484	NM_001267550.2(TTN):c.4623T>A (p.Ile1541=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2947431	NM_001267550.2(TTN):c.4482C>T (p.Gly1494=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2946886	NM_001267550.2(TTN):c.4911C>T (p.Gly1637=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2945651	NM_001267550.2(TTN):c.3964-9T>C	LOC101927055, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2945645	NM_001267550.2(TTN):c.3927T>G (p.Thr1309=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2945403	NM_001267550.2(TTN):c.4416A>G (p.Gln1472=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2944240	NM_001267550.2(TTN):c.4645+18A>T	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2943631	NM_001267550.2(TTN):c.4563A>T (p.Thr1521=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2942880	NM_001267550.2(TTN):c.4646-14C>T	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2942873	NM_001267550.2(TTN):c.3762T>C (p.Leu1254=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2942820	NM_001267550.2(TTN):c.4815-13del	LOC101927055, TTN	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GBenign
Select item 2942579	NM_001267550.2(TTN):c.3945T>A (p.Ser1315=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2942098	NM_001267550.2(TTN):c.3864T>C (p.Ala1288=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2940997	NM_001267550.2(TTN):c.4218T>A (p.Ser1406=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2939118	NM_001267550.2(TTN):c.4645+9A>G	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2939079	NM_001267550.2(TTN):c.4261C>A (p.Arg1421=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2935803	NM_001267550.2(TTN):c.4208+15A>C	LOC101927055, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2934712	NM_001267550.2(TTN):c.4533T>C (p.Gly1511=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2932700	NM_001267550.2(TTN):c.3999T>C (p.His1333=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2929604	NM_001267550.2(TTN):c.4209-18T>C	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2926805	NM_001267550.2(TTN):c.4814+16A>G	LOC101927055, TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2924944	NM_001267550.2(TTN):c.3738T>C (p.His1246=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2923643	NM_001267550.2(TTN):c.3730-19C>A	LOC101927055, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2923393	NM_001267550.2(TTN):c.4716A>C (p.Arg1572=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2921897	NM_001267550.2(TTN):c.4293del (p.Met1432fs)	LOC101927055, TTN (M1386fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2921851	NM_001267550.2(TTN):c.4645+18A>G	LOC101927055, TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2691078	NM_001267550.2(TTN):c.4444G>A (p.Gly1482Ser)	LOC101927055, TTN (G1436S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GLikely benign
Select item 2682799	NM_001267550.2(TTN):c.4090G>A (p.Ala1364Thr)	LOC101927055, TTN (A1318T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682798	NM_001267550.2(TTN):c.4135T>G (p.Leu1379Val)	LOC101927055, TTN (L1333V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682797	NM_001267550.2(TTN):c.4556C>T (p.Pro1519Leu)	LOC101927055, TTN (P1473L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2682796	NM_001267550.2(TTN):c.4679A>G (p.Glu1560Gly)	LOC101927055, TTN (E1514G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2651725	NM_001267550.2(TTN):c.4378G>A (p.Val1460Met)	LOC101927055, TTN (V1414M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2651724	NM_001267550.2(TTN):c.4551T>G (p.Ile1517Met)	LOC101927055, TTN (I1471M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2628540	NM_001267550.2(TTN):c.3955T>A (p.Leu1319Ile)	LOC101927055, TTN (L1273I +1 more)	Single nucleotide variant (missense variant)	TTN-related disorder	GUncertain significance
Select item 2571110	NM_001267550.2(TTN):c.4284_4298dup (p.Pro1439_Gly1440insAlaArgMetSerPro)	LOC101927055, TTN	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2566390	NM_001267550.2(TTN):c.4590G>C (p.Val1530=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2506097	NM_001267550.2(TTN):c.4222C>T (p.Arg1408Cys)	LOC101927055, TTN (R1362C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2505320	NM_001267550.2(TTN):c.4136T>C (p.Leu1379Ser)	LOC101927055, TTN (L1333S +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2505147	NM_001267550.2(TTN):c.3780T>G (p.Tyr1260Ter)	LOC101927055, TTN (Y1214* +1 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 2503348	NM_001267550.2(TTN):c.4330del (p.Glu1444fs)	LOC101927055, TTN (E1398fs +1 more)	Deletion (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 2451904	NM_001267550.2(TTN):c.4002A>C (p.Gly1334=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2451886	NM_001267550.2(TTN):c.4008del (p.Arg1336fs)	LOC101927055, TTN (R1290fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 2444140	NM_001267550.2(TTN):c.3972G>C (p.Trp1324Cys)	LOC101927055, TTN (W1278C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GUncertain significance
Select item 2442936	NM_001267550.2(TTN):c.4057G>C (p.Val1353Leu)	LOC101927055, TTN (V1307L +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2438371	NM_001267550.2(TTN):c.4843C>T (p.Leu1615Phe)	LOC101927055, TTN (L1569F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2438363	NM_001267550.2(TTN):c.3887G>A (p.Arg1296Lys)	LOC101927055, TTN (R1250K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438338	NM_001267550.2(TTN):c.4208G>A (p.Arg1403Lys)	LOC101927055, TTN (R1357K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438268	NM_001267550.2(TTN):c.4118C>T (p.Ala1373Val)	LOC101927055, TTN (A1327V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438259	NM_001267550.2(TTN):c.4667C>T (p.Pro1556Leu)	LOC101927055, TTN (P1510L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2438205	NM_001267550.2(TTN):c.3934T>C (p.Cys1312Arg)	LOC101927055, TTN (C1266R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437974	NM_001267550.2(TTN):c.3942G>A (p.Met1314Ile)	LOC101927055, TTN (M1268I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437962	NM_001267550.2(TTN):c.4254_4268dup (p.Pro1439_Gly1440insAlaArgMetSerPro)	LOC101927055, TTN	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2437583	NM_001267550.2(TTN):c.4283C>T (p.Ser1428Phe)	LOC101927055, TTN (S1382F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2437471	NM_001267550.2(TTN):c.3822T>G (p.Asp1274Glu)	LOC101927055, TTN (D1228E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175761	NM_001267550.2(TTN):c.4332G>A (p.Glu1444=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2162352	NM_001267550.2(TTN):c.3730-6G>A	LOC101927055, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2133496	NM_001267550.2(TTN):c.4814+6T>C	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2131547	NM_001267550.2(TTN):c.3813T>G (p.Leu1271=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2130520	NM_001267550.2(TTN):c.4218_4219del (p.Pro1407fs)	LOC101927055, TTN (P1361fs +1 more)	Microsatellite (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2124762	NM_001267550.2(TTN):c.4506C>A (p.Thr1502=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2120842	NM_001267550.2(TTN):c.4209-19G>A	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2117805	NM_001267550.2(TTN):c.3829G>T (p.Glu1277Ter)	LOC101927055, TTN (E1231* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2089484	NM_001267550.2(TTN):c.4740G>C (p.Thr1580=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2089337	NM_001267550.2(TTN):c.4827C>G (p.Thr1609=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2046184	NM_001267550.2(TTN):c.4197G>A (p.Val1399=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 2030431	NM_001267550.2(TTN):c.4047G>A (p.Leu1349=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2023984	NM_001267550.2(TTN):c.4548T>A (p.Ile1516=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2023469	NM_001267550.2(TTN):c.4480G>T (p.Gly1494Cys)	LOC101927055, TTN (G1494C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2012120	NM_001267550.2(TTN):c.4446T>C (p.Gly1482=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2010874	NM_001267550.2(TTN):c.4301del (p.Pro1434fs)	LOC101927055, TTN (P1434fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1995396	NM_001267550.2(TTN):c.4089T>A (p.Thr1363=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1984988	NM_001267550.2(TTN):c.4291C>A (p.Arg1431=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1975354	NM_001267550.2(TTN):c.4923A>G (p.Thr1641=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1957502	NM_001267550.2(TTN):c.3963+10A>G	LOC101927055, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1943094	NM_001267550.2(TTN):c.4209-19G>T	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1807498	NM_001267550.2(TTN):c.4770G>C (p.Leu1590Phe)	LOC101927055, TTN (L1544F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1807489	NM_001267550.2(TTN):c.4440T>G (p.Val1480=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1743109	NM_001267550.2(TTN):c.4929C>T (p.Cys1643=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1743056	NM_001267550.2(TTN):c.4921A>G (p.Thr1641Ala)	LOC101927055, TTN (T1595A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1742401	NM_001267550.2(TTN):c.4821A>C (p.Glu1607Asp)	LOC101927055, TTN (E1561D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1741913	NM_001267550.2(TTN):c.4752C>A (p.Asn1584Lys)	LOC101927055, TTN (N1538K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1741836	NM_001267550.2(TTN):c.4741G>A (p.Gly1581Ser)	LOC101927055, TTN (G1535S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1741071	NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)	LOC101927055, TTN (E1548* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 1740775	NM_001267550.2(TTN):c.4598A>G (p.Gln1533Arg)	LOC101927055, TTN (Q1533R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1740598	NM_001267550.2(TTN):c.4575T>C (p.Ser1525=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign

<< First< Prev

Page of 4