"Revvity Omics, Revvity"[submitter] AND "LOC101927055"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 467211	NM_001267550.2(TTN):c.4903A>G (p.Lys1635Glu)	LOC101927055, TTN (K1635E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 515495	NM_001267550.2(TTN):c.4889C>T (p.Ala1630Val)	LOC101927055, TTN (A1630V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 47095	NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala)	LOC101927055, TTN (G1570A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 440979	NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr)	LOC101927055, TTN (I1567T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +7 more	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 430440	NM_001267550.2(TTN):c.4532G>A (p.Gly1511Asp)	LOC101927055, TTN (G1511D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 942356	NM_001267550.2(TTN):c.4480+1G>A	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 467163	NM_001267550.2(TTN):c.4453A>G (p.Met1485Val)	LOC101927055, TTN (M1485V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 192085	NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys)	LOC101927055, TTN (R1441C +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 594832	NM_001267550.2(TTN):c.4310T>A (p.Met1437Lys)	LOC101927055, TTN (M1437K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
Select item 166321	NM_001267550.2(TTN):c.4269_4298del (p.1420ARMSP[2])	LOC101927055, TTN	Deletion (non-coding transcript variant +1 more)	not specified +2 more	GUncertain significance
Select item 1738122	NM_001267550.2(TTN):c.4276_4290del (p.1420ARMSP[3])	LOC101927055, TTN	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 203129	NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu)	LOC101927055, TTN (A1430E +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 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 203125	NM_001267550.2(TTN):c.4247G>A (p.Arg1416His)	LOC101927055, TTN (R1416H +1 more)	Single nucleotide variant (missense variant +1 more)	TTN-related disorder +1 more	GConflicting classifications of pathogenicity
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 178272	NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr)	LOC101927055, TTN (A1385T +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 229444	NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu)	LOC101927055, TTN (I1361L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 238772	NM_001267550.2(TTN):c.4057GTT[1] (p.Val1354del)	LOC101927055, TTN (V1354del +1 more)	Microsatellite (inframe_deletion)	not provided +3 more	GUncertain significance
Select item 805715	NM_001267550.2(TTN):c.4049G>A (p.Arg1350His)	LOC101927055, TTN (R1304H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2437707	NM_001267550.2(TTN):c.4019A>G (p.Asp1340Gly)	LOC101927055, TTN (D1294G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203122	NM_001267550.2(TTN):c.3989G>A (p.Arg1330His)	LOC101927055, TTN (R1330H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 195838	NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys)	LOC101927055, TTN (R1330C +1 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +1 more	GConflicting classifications of pathogenicity
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 263594	NM_001267550.2(TTN):c.3940A>G (p.Met1314Val)	LOC101927055, TTN (M1314V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	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 166323	NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)	LOC101927055, TTN (G1305W +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
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 264610	NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys)	LOC101927055, TTN (E1244K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 203120	NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)	LOC101927055, TTN (M1279L +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GConflicting classifications of pathogenicity
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 1174742	NM_001267550.2(TTN):c.3742_3745del (p.Ser1248fs)	LOC101927055, TTN (S1202fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 192087	NM_001267550.2(TTN):c.3737A>T (p.His1246Leu)	LOC101927055, TTN (H1246L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 36