ClinVar for MedGen (Select 815866) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500104	NM_006073.4(TRDN):c.1084A>G (p.Thr362Ala)	TRDN (T343A +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5	GUncertain significance
Select item 2434224	NM_006073.4(TRDN):c.1558G>T (p.Glu520Ter)	TRDN (E520*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 5	GLikely pathogenic
Select item 2434223	NM_006073.4(TRDN):c.424+1G>T	TRDN	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 5	GLikely pathogenic
Select item 1963630	NM_006073.4(TRDN):c.1672+6T>C	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GConflicting classifications of pathogenicity
Select item 1805411	NM_006073.4(TRDN):c.2146T>C (p.Ser716Pro)	TRDN (S716P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5	GUncertain significance
Select item 1805214	NM_006073.4(TRDN):c.1048A>G (p.Lys350Glu)	TRDN (K331E +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5	GUncertain significance
Select item 1708485	NM_006073.4(TRDN):c.508G>T (p.Gly170Ter)	TRDN (G170*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 5	GPathogenic
Select item 1573045	NM_006073.4(TRDN):c.931+10T>A	TRDN, TRDN-AS1 (F294Y)	Single nucleotide variant (missense variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 5 +1 more	GLikely benign
Select item 1517713	NM_006073.4(TRDN):c.391+1G>A	TRDN	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely pathogenic
Select item 1496492	NM_006073.4(TRDN):c.1150A>G (p.Lys384Glu)	TRDN (K384E +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 1484582	NM_006073.4(TRDN):c.1223A>C (p.Lys408Thr)	TRDN (K408T +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 1462213	NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile)	TRDN (F704I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1437829	NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg)	TRDN (I534R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1431509	NM_006073.4(TRDN):c.32C>T (p.Ser11Phe)	TRDN (S11F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1419569	NM_006073.4(TRDN):c.335A>T (p.Asp112Val)	TRDN (D112V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +3 more	GUncertain significance
Select item 1417266	NM_006073.4(TRDN):c.604G>A (p.Ala202Thr)	TRDN (A202T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +1 more	GUncertain significance
Select item 1409502	NM_006073.4(TRDN):c.1286C>A (p.Ala429Asp)	TRDN (A429D +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +1 more	GUncertain significance
Select item 1367267	NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter)	TRDN (Q726*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 5 +2 more	GUncertain significance
Select item 1351591	NM_006073.4(TRDN):c.1283G>A (p.Arg428Gln)	TRDN (R428Q +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 1330423	NM_006073.4(TRDN):c.1630G>A (p.Asp544Asn)	TRDN (D544N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 1325231	NM_006073.4(TRDN):c.1050del (p.Glu351fs)	TRDN (E351fs +1 more)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 5	GLikely pathogenic
Select item 1325229	NM_006073.4(TRDN):c.1136-1G>A	TRDN	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GUncertain significance
Select item 1304211	NM_006073.4(TRDN):c.1682T>A (p.Val561Asp)	TRDN (V561D)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1140895	NM_006073.4(TRDN):c.1975+8C>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 1081148	NM_006073.4(TRDN):c.425-11dup	TRDN	Duplication (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 1075032	NM_006073.4(TRDN):c.531del (p.Glu178fs)	TRDN (E178fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GPathogenic/Likely pathogenic
Select item 1070395	NM_006073.4(TRDN):c.22+29A>G	TRDN	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 1056673	NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys)	TRDN (E652K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1054866	NM_006073.4(TRDN):c.376G>A (p.Glu126Lys)	TRDN (E126K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1047463	NM_006073.4(TRDN):c.1975+5G>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 1042216	NM_006073.4(TRDN):c.1766C>A (p.Pro589His)	TRDN (P589H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 1040678	NM_006073.4(TRDN):c.1721-4A>T	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +2 more	GLikely benign
Select item 1039913	NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp)	TRDN (A567D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1032405	NM_006073.4(TRDN):c.1671A>G (p.Pro557=)	TRDN	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +1 more	GUncertain significance
Select item 1025853	NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del)	TRDN	Deletion (inframe_deletion)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1015507	NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu)	TRDN (P352L +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 994234	NM_006073.4(TRDN):c.1990G>A (p.Val664Ile)	TRDN (V664I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 915308	NM_006073.4(TRDN):c.22+1G>T	TRDN	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GPathogenic
Select item 838068	NM_006073.4(TRDN):c.502G>T (p.Glu168Ter)	TRDN (E168*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic/Likely pathogenic
Select item 835579	NM_006073.4(TRDN):c.410C>T (p.Pro137Leu)	TRDN (P137L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +2 more	GUncertain significance
Select item 811386	NM_006073.4(TRDN):c.284C>T (p.Ala95Val)	TRDN (A95V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +1 more	GUncertain significance
Select item 681489	NM_006073.4(TRDN):c.23-19T>G	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely benign
Select item 674813	NM_006073.4(TRDN):c.484+41C>T	TRDN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 651783	NM_006073.4(TRDN):c.797A>G (p.Gln266Arg)	TRDN (Q266R)	Single nucleotide variant (missense variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GConflicting classifications of pathogenicity
Select item 573040	NM_006073.4(TRDN):c.575A>C (p.Lys192Thr)	TRDN (K192T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 569735	NM_006073.4(TRDN):c.127A>G (p.Thr43Ala)	TRDN (T43A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 566685	NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter)	TRDN (Q727*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 561136	NM_006073.4(TRDN):c.1187-2A>G	TRDN	Single nucleotide variant (splice acceptor variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +3 more	GConflicting classifications of pathogenicity
Select item 532385	NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn)	TRDN (D595N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 532380	NM_006073.4(TRDN):c.1471+5T>C	TRDN	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 532360	NM_006073.4(TRDN):c.1304C>T (p.Ala435Val)	TRDN (A435V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 532334	NM_006073.4(TRDN):c.25A>G (p.Asn9Asp)	TRDN (N9D)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +1 more	GUncertain significance
Select item 532333	NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter)	TRDN (R428* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 532317	NM_006073.4(TRDN):c.1806del (p.Gly603fs)	TRDN (G603fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GConflicting classifications of pathogenicity
Select item 519532	NM_006073.4(TRDN):c.1130A>G (p.Lys377Arg)	TRDN (K377R +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 519227	NM_006073.4(TRDN):c.196G>T (p.Val66Phe)	TRDN (V66F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 506596	NM_006073.4(TRDN):c.611-19A>T	TRDN	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 505274	NM_006073.4(TRDN):c.793+61T>C	TRDN (M285T)	Single nucleotide variant (missense variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 5 +1 more	GLikely benign
Select item 504835	NM_006073.4(TRDN):c.1472-13C>T	TRDN	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 463682	NM_006073.4(TRDN):c.991G>A (p.Glu331Lys)	TRDN (E331K +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 463678	NM_006073.4(TRDN):c.550G>T (p.Ala184Ser)	TRDN (A184S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 463664	NM_006073.4(TRDN):c.1175C>T (p.Pro392Leu)	TRDN (P392L +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 452344	NM_006073.4(TRDN):c.1420+1G>T	TRDN	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +3 more	GConflicting classifications of pathogenicity
Select item 449704	NM_006073.4(TRDN):c.239C>T (p.Ser80Phe)	TRDN (S80F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 449691	NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer)	TRDN	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 426462	NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys)	TRDN (R632K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 424215	NM_006073.4(TRDN):c.1206A>T (p.Lys402Asn)	TRDN (K402N +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 423500	NM_006073.4(TRDN):c.884C>T (p.Pro295Leu)	TRDN, TRDN-AS1 (P295L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 423208	NM_006073.4(TRDN):c.1233_1234dup (p.Lys412fs)	TRDN (K412fs +1 more)	Duplication (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GConflicting classifications of pathogenicity
Select item 415185	NM_006073.4(TRDN):c.1713A>C (p.Glu571Asp)	TRDN (E571D)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +3 more	GConflicting classifications of pathogenicity
Select item 408740	NM_006073.4(TRDN):c.167T>C (p.Leu56Pro)	TRDN (L56P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 408739	NM_006073.4(TRDN):c.2084A>T (p.Asp695Val)	TRDN (D695V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 408736	NM_006073.4(TRDN):c.71T>A (p.Val24Glu)	TRDN (V24E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 408734	NM_006073.4(TRDN):c.1361T>C (p.Val454Ala)	TRDN (V454A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 408733	NM_006073.4(TRDN):c.1708A>G (p.Ile570Val)	TRDN (I570V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 408732	NM_006073.4(TRDN):c.1051+1G>A	TRDN	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GConflicting classifications of pathogenicity
Select item 408730	NM_006073.4(TRDN):c.419A>G (p.Lys140Arg)	TRDN (K140R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 408727	NM_006073.4(TRDN):c.1537+1G>A	TRDN	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 408726	NM_006073.4(TRDN):c.1105G>A (p.Ala369Thr)	TRDN (A369T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 373636	NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu)	TRDN (D379E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 355228	NM_006073.4(TRDN):c.85G>A (p.Gly29Arg)	TRDN (G29R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +3 more	GUncertain significance
Select item 355224	NM_006073.4(TRDN):c.233-14_233-13del	TRDN	Deletion (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +3 more	GBenign/Likely benign
Select item 355219	NM_006073.4(TRDN):c.727A>G (p.Thr243Ala)	TRDN (T243A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +3 more	GUncertain significance
Select item 355212	NM_006073.4(TRDN):c.1765C>A (p.Pro589Thr)	TRDN (P589T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +1 more	GUncertain significance
Select item 264241	NM_006073.4(TRDN):c.1282C>G (p.Arg428Gly)	TRDN (R428G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 264130	NM_006073.4(TRDN):c.367G>A (p.Asp123Asn)	TRDN (D123N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 259915	NM_006073.4(TRDN):c.2051-19G>A	TRDN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 240287	NM_006073.4(TRDN):c.502G>A (p.Glu168Lys)	TRDN (E168K)	Single nucleotide variant (missense variant)	TRDN-related condition +3 more	GLikely benign
Select item 240284	NM_006073.4(TRDN):c.17C>T (p.Ala6Val)	TRDN (A6V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 240283	NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys)	TRDN (Q543K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 229348	NM_006073.4(TRDN):c.125C>T (p.Thr42Met)	TRDN (T42M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 229347	NM_006073.4(TRDN):c.1193A>T (p.Glu398Val)	TRDN (E398V +1 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 229345	NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg)	TRDN (Q456R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 227123	NM_006073.4(TRDN):c.601C>G (p.Leu201Val)	TRDN (L201V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GBenign
Select item 227122	NM_006073.4(TRDN):c.497AAAAAG[1] (p.166EK[1])	TRDN	Microsatellite (inframe_deletion)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GBenign
Select item 227121	NM_006073.4(TRDN):c.430C>T (p.His144Tyr)	TRDN (H144Y)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 227120	NM_006073.4(TRDN):c.403G>A (p.Glu135Lys)	TRDN (E135K)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 227119	NM_006073.4(TRDN):c.383C>G (p.Thr128Ser)	TRDN (T128S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 227117	NM_006073.4(TRDN):c.1871-15G>A	TRDN	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +2 more	GBenign
Select item 227115	NM_006073.4(TRDN):c.1620A>G (p.Ile540Met)	TRDN (I540M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 5 +3 more	GBenign/Likely benign

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