"Ambry Genetics"[submitter] AND "LOC126806425"[gene] - ClinVar

Search results

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1793884	NM_001267550.2(TTN):c.53394C>T (p.Gly17798=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 202451	NM_001267550.2(TTN):c.53393del (p.Gly17798fs)	LOC126806425, TTN +1 more (G15230fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 202389	NM_001267550.2(TTN):c.53355G>A (p.Trp17785Ter)	LOC126806425, TTN +1 more (W16144* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 389763	NM_001267550.2(TTN):c.53295T>C (p.Pro17765=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 264297	NM_001267550.2(TTN):c.53290G>A (p.Val17764Ile)	LOC126806425, TTN +1 more (V17764I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 518511	NM_001267550.2(TTN):c.53288-1G>C	LOC126806425, TTN +1 more	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 285189	NM_001267550.2(TTN):c.53287+3A>G	LOC126806425, TTN +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 420066	NM_001267550.2(TTN):c.53287+1G>T	TTN-AS1, LOC126806425 +1 more	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2938288	NM_001267550.2(TTN):c.53280A>G (p.Glu17760=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 1793737	NM_001267550.2(TTN):c.53268A>G (p.Ala17756=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 47075	NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)	LOC126806425, TTN +1 more (F17754L +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity
Select item 466636	NM_001267550.2(TTN):c.53259del (p.Lys17753fs)	LOC126806425, TTN +1 more (K15185fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +3 more	GPathogenic/Likely pathogenic
Select item 535386	NM_001267550.2(TTN):c.53246G>C (p.Ser17749Thr)	LOC126806425, TTN +1 more (S17749T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 518150	NM_001267550.2(TTN):c.53229G>A (p.Val17743=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 284098	NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1066067	NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter)	LOC126806425, TTN +1 more (R15168* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 765229	NM_001267550.2(TTN):c.53193C>T (p.Ile17731=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 47074	NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)	LOC126806425, TTN +1 more (I17731T +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GBenign/Likely benign
Select item 286204	NM_001267550.2(TTN):c.53185C>T (p.Leu17729=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 137797	NM_001267550.2(TTN):c.53166C>T (p.Asn17722=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GBenign/Likely benign
Select item 202708	NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)	LOC126806425, TTN +1 more (I16079T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 282890	NM_001267550.2(TTN):c.53142T>C (p.Asp17714=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 283934	NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)	LOC126806425, TTN +1 more (K8643V +5 more)	Indel (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 47072	NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile)	LOC126806425, TTN +1 more (K17708I +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +7 more	GBenign/Likely benign
Select item 378823	NM_001267550.2(TTN):c.53100T>G (p.Pro17700=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GBenign/Likely benign
Select item 47071	NM_001267550.2(TTN):c.53096G>C (p.Arg17699Pro)	LOC126806425, TTN +1 more (R17699P +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 47070	NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)	LOC126806425, TTN +1 more (R17699H +5 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 165990	NM_001267550.2(TTN):c.53080G>C (p.Ala17694Pro)	LOC126806425, TTN +1 more (A15126P +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 202707	NM_001267550.2(TTN):c.53060G>T (p.Gly17687Val)	LOC126806425, TTN +1 more (G16046V +5 more)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 165991	NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)	LOC126806425, TTN +1 more (M15117I +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1793398	NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs)	LOC126806425, TTN +1 more (V8736fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 2451925	NM_001267550.2(TTN):c.53020C>T (p.Leu17674=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 165992	NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val)	LOC126806425, TTN +1 more (A15103V +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1348562	NM_001267550.2(TTN):c.52975C>T (p.Gln17659Ter)	LOC126806425, TTN +1 more (Q8594* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 518727	NM_001267550.2(TTN):c.52966G>A (p.Gly17656Arg)	LOC126806425, TTN +1 more (G17656R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 202272	NM_001267550.2(TTN):c.52962G>A (p.Pro17654=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 263751	NM_001267550.2(TTN):c.52950A>G (p.Ala17650=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1535646	NM_001267550.2(TTN):c.52947C>G (p.Ala17649=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 467251	NM_001267550.2(TTN):c.52947C>T (p.Ala17649=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +3 more	GLikely benign
Select item 1793296	NM_001267550.2(TTN):c.52945G>A (p.Ala17649Thr)	LOC126806425, TTN +1 more (A8709T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 837628	NM_001267550.2(TTN):c.52924_52930dup (p.Val17644fs)	LOC126806425, TTN +1 more (V15076fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +2 more	GPathogenic/Likely pathogenic
Select item 3223228	NM_001267550.2(TTN):c.52929G>C (p.Arg17643=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1793268	NM_001267550.2(TTN):c.52928G>T (p.Arg17643Leu)	LOC126806425, TTN +1 more (R16002L +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 229459	NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp)	LOC126806425, TTN +1 more (R15075W +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 515284	NM_001267550.2(TTN):c.52920C>T (p.Tyr17640=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 47068	NM_001267550.2(TTN):c.52917T>C (p.Asp17639=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign
Select item 202705	NM_001267550.2(TTN):c.52891G>A (p.Val17631Ile)	LOC126806425, TTN +1 more (V15990I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 380388	NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1080884	NM_001267550.2(TTN):c.52881T>C (p.Arg17627=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 535121	NM_001267550.2(TTN):c.52878C>T (p.Val17626=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 467250	NM_001267550.2(TTN):c.52863G>A (p.Glu17621=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 229458	NM_001267550.2(TTN):c.52853G>A (p.Arg17618His)	LOC126806425, TTN +1 more (R15050H +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GConflicting classifications of pathogenicity
Select item 47066	NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)	LOC126806425, TTN +1 more (R17618C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 1522493	NM_001267550.2(TTN):c.52847G>A (p.Trp17616Ter)	LOC126806425, TTN +1 more (W15975* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 202704	NM_001267550.2(TTN):c.52831G>A (p.Val17611Ile)	LOC126806425, TTN +1 more (V15970I +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 282638	NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)	LOC126806425, TTN +1 more (Q17609L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 47065	NM_001267550.2(TTN):c.52821T>C (p.Asp17607=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +7 more	GBenign/Likely benign
Select item 2038649	NM_001267550.2(TTN):c.52803T>C (p.Ile17601=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1793105	NM_001267550.2(TTN):c.52798G>A (p.Glu17600Lys)	LOC126806425, TTN +1 more (E17600K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451937	NM_001267550.2(TTN):c.52740C>T (p.Asp17580=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 238798	NM_001267550.2(TTN):c.52731_52732del (p.Arg17577fs)	LOC126806425, TTN +1 more (R17577fs +5 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1G +3 more	GPathogenic/Likely pathogenic
Select item 1792971	NM_001267550.2(TTN):c.52725C>T (p.Ile17575=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GBenign
Select item 202702	NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)	LOC126806425, TTN +1 more (I15927V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 202701	NM_001267550.2(TTN):c.52693C>G (p.His17565Asp)	LOC126806425, TTN +1 more (H15924D +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 1792898	NM_001267550.2(TTN):c.52683C>T (p.Pro17561=)	LOC126806425, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 782186	NM_001267550.2(TTN):c.52659A>G (p.Gly17553=)	LOC126806425, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GLikely benign
Select item 195713	NM_001267550.2(TTN):c.52656T>C (p.Pro17552=)	LOC126806425, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 467249	NM_001267550.2(TTN):c.52629A>G (p.Arg17543=)	LOC126806425, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 535589	NM_001267550.2(TTN):c.52607_52609del (p.Glu17536del)	LOC126806425, TTN +1 more (E17536del +5 more)	Deletion (inframe_deletion)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 404765	NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer)	LOC126806425, TTN +1 more	Deletion (nonsense)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 626678	NM_001267550.2(TTN):c.52601T>A (p.Leu17534Ter)	LOC126806425, TTN +1 more (L15893* +5 more)	Single nucleotide variant (nonsense)	Cardiomyopathy +1 more	GLikely pathogenic
Select item 513468	NM_001267550.2(TTN):c.52596T>C (p.Asp17532=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 229457	NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser)	LOC126806425, TTN +1 more (N14962S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 2586549	NM_001267550.2(TTN):c.52569T>A (p.Leu17523=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 96294	NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)	LOC126806425, TTN +1 more (N17512K +4 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 3223227	NM_001267550.2(TTN):c.52518del (p.Glu17507fs)	LOC126806425, TTN +1 more (E14939fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 2566417	NM_001267550.2(TTN):c.52509T>G (p.Gly17503=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 263538	NM_001267550.2(TTN):c.52505T>C (p.Leu17502Ser)	LOC126806425, TTN +1 more (L14934S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1114015	NM_001267550.2(TTN):c.52504T>C (p.Leu17502=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign

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Items: 79