ClinVar for Gene (Select 6331) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 4156

<< First< Prev

Page of 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076028	NM_000335.5(SCN5A):c.2954del (p.Leu985fs)	LOC110121269, SCN5A (L985fs)	Deletion (frameshift variant +1 more)	Brugada syndrome	GLikely pathogenic
Select item 3075937	NM_000335.5(SCN5A):c.2971_2972del (p.Lys991fs)	LOC110121269, SCN5A (K991fs)	Deletion (frameshift variant +1 more)	Brugada syndrome	GLikely pathogenic
Select item 3075757	NM_000335.5(SCN5A):c.5390G>A (p.Trp1797Ter)	SCN5A (W1744* +5 more)	Single nucleotide variant (nonsense +1 more)	Brugada syndrome	GLikely pathogenic
Select item 3075756	NM_000335.5(SCN5A):c.3214G>T (p.Glu1072Ter)	LOC110121269, SCN5A (E1072*)	Single nucleotide variant (nonsense +1 more)	Brugada syndrome	GLikely pathogenic
Select item 3075755	NM_000335.5(SCN5A):c.4393del (p.Ile1465fs)	SCN5A (I1412fs +4 more)	Deletion (frameshift variant +1 more)	Brugada syndrome	GLikely pathogenic
Select item 3075752	NM_000335.5(SCN5A):c.3208G>T (p.Glu1070Ter)	LOC110121269, SCN5A (E1070*)	Single nucleotide variant (nonsense +1 more)	Brugada syndrome	GLikely pathogenic
Select item 3075463	NM_000335.5(SCN5A):c.2013C>A (p.Ser671Arg)	SCN5A (S671R)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3075439	NM_000335.5(SCN5A):c.5589G>C (p.Glu1863Asp)	SCN5A (E1810D +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3075364	NM_000335.5(SCN5A):c.3848T>C (p.Val1283Ala)	SCN5A (V1230A +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3075363	NM_000335.5(SCN5A):c.2548G>C (p.Val850Leu)	SCN5A (V850L)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3075328	NM_000335.5(SCN5A):c.3254C>A (p.Pro1085Gln)	LOC110121269, SCN5A (P1085Q +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 3075318	NM_000335.5(SCN5A):c.2027T>C (p.Leu676Ser)	SCN5A (L676S)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3075314	NM_000335.5(SCN5A):c.5443G>A (p.Asp1815Asn)	SCN5A (D1762N +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3075311	NM_000335.5(SCN5A):c.3664-9T>G	SCN5A	Single nucleotide variant (intron variant)	Cardiac arrhythmia	GUncertain significance
Select item 3075264	NM_000335.5(SCN5A):c.5947A>T (p.Thr1983Ser)	SCN5A (T1930S +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3075263	NM_000335.5(SCN5A):c.2227A>G (p.Ser743Gly)	SCN5A (S743G)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3075239	NM_000335.5(SCN5A):c.1522C>G (p.His508Asp)	SCN5A (H508D)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3075231	NM_000335.5(SCN5A):c.29C>T (p.Thr10Ile)	SCN5A (T10I)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3075097	NM_000335.5(SCN5A):c.3020C>A (p.Thr1007Asn)	LOC110121269, SCN5A (T1007N)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3075062	NM_000335.5(SCN5A):c.3332A>C (p.Gln1111Pro)	LOC110121269, SCN5A (Q1111P +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 3075058	NM_000335.5(SCN5A):c.5371G>T (p.Asp1791Tyr)	SCN5A (D1738Y +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3075038	NM_000335.5(SCN5A):c.5132G>A (p.Gly1711Asp)	SCN5A (G1658D +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074956	NM_000335.5(SCN5A):c.91A>G (p.Lys31Glu)	SCN5A (K31E)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074938	NM_000335.5(SCN5A):c.1788C>T (p.Asp596=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3074936	NM_000335.5(SCN5A):c.6029A>G (p.Asp2010Gly)	SCN5A (D1957G +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074919	NM_000335.5(SCN5A):c.5304C>T (p.Ala1768=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3074908	NM_000335.5(SCN5A):c.1035C>A (p.Gly345=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3074865	NM_000335.5(SCN5A):c.1487A>G (p.Lys496Arg)	SCN5A (K496R)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074787	NM_000335.5(SCN5A):c.5570C>A (p.Thr1857Asn)	SCN5A (T1804N +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074778	NM_000335.5(SCN5A):c.4989C>T (p.Leu1663=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3074749	NM_000335.5(SCN5A):c.530T>A (p.Leu177Gln)	SCN5A (L177Q)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074733	NM_000335.5(SCN5A):c.4860C>T (p.Leu1620=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3074731	NM_000335.5(SCN5A):c.5903C>T (p.Ser1968Phe)	SCN5A (S1915F +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074658	NM_000335.5(SCN5A):c.3777C>T (p.Ala1259=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3074631	NM_000335.5(SCN5A):c.5601G>A (p.Met1867Ile)	SCN5A (M1814I +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074622	NM_000335.5(SCN5A):c.3128A>T (p.Glu1043Val)	LOC110121269, SCN5A (E1043V)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074606	NM_000335.5(SCN5A):c.1177T>G (p.Phe393Val)	SCN5A (F393V)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074553	NM_000335.5(SCN5A):c.4793T>C (p.Val1598Ala)	SCN5A (V1545A +4 more)	Single nucleotide variant (missense variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074510	NM_000335.5(SCN5A):c.3533G>C (p.Cys1178Ser)	SCN5A (C1125S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074416	NM_000335.5(SCN5A):c.3273del (p.Arg1092fs)	LOC110121269, SCN5A (R1092fs +1 more)	Deletion (frameshift variant +2 more)	Congenital long QT syndrome	GLikely pathogenic
Select item 3074271	NM_000335.5(SCN5A):c.1923G>A (p.Gln641=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074208	NM_000335.5(SCN5A):c.4863C>G (p.Phe1621Leu)	SCN5A (F1568L +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074195	NM_000335.5(SCN5A):c.3644T>C (p.Leu1215Pro)	SCN5A (L1162P +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074156	NM_000335.5(SCN5A):c.5766T>C (p.His1922=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3074152	NM_000335.5(SCN5A):c.1131C>G (p.Leu377=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3074140	NM_000335.5(SCN5A):c.678C>T (p.Ala226=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3074125	NM_000335.5(SCN5A):c.5373T>A (p.Asp1791Glu)	SCN5A (D1738E +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074090	NM_000335.5(SCN5A):c.5893T>G (p.Ser1965Ala)	SCN5A (S1912A +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074078	NM_000335.5(SCN5A):c.5509A>G (p.Met1837Val)	SCN5A (M1784V +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074077	NM_000335.5(SCN5A):c.1312A>T (p.Met438Leu)	SCN5A (M438L)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3074021	NM_000335.5(SCN5A):c.3508+5T>G	SCN5A	Single nucleotide variant (intron variant)	Cardiac arrhythmia	GUncertain significance
Select item 3074019	NM_000335.5(SCN5A):c.4328T>C (p.Leu1443Pro)	SCN5A (L1390P +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3073972	NM_000335.5(SCN5A):c.5675C>T (p.Thr1892Ile)	SCN5A (T1839I +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3073905	NM_000335.5(SCN5A):c.274-12G>T	SCN5A	Single nucleotide variant (intron variant)	Cardiac arrhythmia	GUncertain significance
Select item 3073902	NM_000335.5(SCN5A):c.8A>C (p.Asn3Thr)	SCN5A (N3T)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3073870	NM_000335.5(SCN5A):c.3025T>G (p.Tyr1009Asp)	LOC110121269, SCN5A (Y1009D)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3073793	NM_000335.5(SCN5A):c.1655G>A (p.Gly552Glu)	SCN5A (G552E)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3073777	NM_000335.5(SCN5A):c.926G>A (p.Ser309Asn)	SCN5A (S309N)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3073752	NM_000335.5(SCN5A):c.886G>A (p.Ala296Thr)	SCN5A (A296T)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3073749	NM_000335.5(SCN5A):c.2951T>C (p.Leu984Pro)	LOC110121269, SCN5A (L984P)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3073663	NM_000335.5(SCN5A):c.2166dup (p.Ile723fs)	SCN5A (I723fs)	Duplication (frameshift variant +1 more)	Brugada syndrome	GPathogenic
Select item 3073639	NM_000335.5(SCN5A):c.1698C>T (p.Pro566=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3073623	NM_000335.5(SCN5A):c.1141-9C>T	SCN5A	Single nucleotide variant (intron variant)	Cardiac arrhythmia	GLikely benign
Select item 3073613	NM_000335.5(SCN5A):c.4792G>C (p.Val1598Leu)	SCN5A (V1545L +4 more)	Single nucleotide variant (missense variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 3073456	NM_000335.5(SCN5A):c.5816A>G (p.Asp1939Gly)	SCN5A (D1886G +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3073394	NM_000335.5(SCN5A):c.4179C>T (p.Tyr1393=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3073356	NM_000335.5(SCN5A):c.3402T>C (p.Ser1134=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3073195	NM_000335.5(SCN5A):c.4720T>C (p.Cys1574Arg)	SCN5A (C1521R +4 more)	Single nucleotide variant (missense variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 3073178	NM_000335.5(SCN5A):c.5674A>G (p.Thr1892Ala)	SCN5A (T1839A +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3073111	NM_000335.5(SCN5A):c.4266C>A (p.Asp1422Glu)	SCN5A (D1369E +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 3073053	NM_000335.5(SCN5A):c.1699del (p.Leu567fs)	SCN5A (L567fs)	Deletion (frameshift variant +1 more)	Brugada syndrome	GPathogenic
Select item 3073025	NM_000335.5(SCN5A):c.3294A>C (p.Ser1098=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 3073018	NM_000335.5(SCN5A):c.5726G>C (p.Arg1909Thr)	SCN5A (R1856T +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072997	NM_000335.5(SCN5A):c.4846T>C (p.Phe1616Leu)	SCN5A (F1563L +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072964	NM_000335.5(SCN5A):c.1475A>T (p.Asp492Val)	SCN5A (D492V)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072954	NM_000335.5(SCN5A):c.2144T>C (p.Met715Thr)	SCN5A (M715T)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072941	NM_000335.5(SCN5A):c.3829A>G (p.Ile1277Val)	SCN5A (I1224V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072916	NM_000335.5(SCN5A):c.5261A>G (p.Tyr1754Cys)	SCN5A (Y1701C +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072891	NM_000335.5(SCN5A):c.5440T>A (p.Ser1814Thr)	SCN5A (S1761T +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072854	NM_000335.5(SCN5A):c.5900T>A (p.Ile1967Asn)	SCN5A (I1914N +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072843	NM_000335.5(SCN5A):c.4344T>C (p.Tyr1448=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3072816	NM_000335.5(SCN5A):c.4613G>T (p.Cys1538Phe)	SCN5A (C1485F +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072773	NM_000335.5(SCN5A):c.1574G>A (p.Ser525Asn)	SCN5A (S525N)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072749	NM_000335.5(SCN5A):c.2732G>A (p.Gly911Glu)	SCN5A (G911E)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072717	NM_000335.5(SCN5A):c.4882C>A (p.Arg1628=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072655	NM_000335.5(SCN5A):c.2274G>A (p.Gly758=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3072626	NM_000335.5(SCN5A):c.4838A>C (p.Lys1613Thr)	SCN5A (K1560T +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072624	NM_000335.5(SCN5A):c.3196A>G (p.Ser1066Gly)	LOC110121269, SCN5A (S1066G)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072575	NM_000335.5(SCN5A):c.4583C>T (p.Ala1528Val)	SCN5A (A1475V +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072566	NM_000335.5(SCN5A):c.6038C>G (p.Ser2013Cys)	SCN5A (S1960C +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072498	NM_000335.5(SCN5A):c.1891-11_1891-10del	SCN5A	Deletion (intron variant)	Cardiac arrhythmia	GUncertain significance
Select item 3072497	NM_000335.5(SCN5A):c.1891-12_1891-11insGGG	SCN5A	Insertion (intron variant)	Cardiac arrhythmia	GUncertain significance
Select item 3072436	NM_000335.5(SCN5A):c.1484_1486del (p.Pro495_Lys496delinsGln)	SCN5A	Deletion (inframe_indel +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072435	NM_000335.5(SCN5A):c.1482C>T (p.Leu494=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3072413	NM_000335.5(SCN5A):c.2134T>C (p.Leu712=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3072404	NM_000335.5(SCN5A):c.904G>A (p.Glu302Lys)	SCN5A (E302K)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072339	NM_000335.5(SCN5A):c.613T>C (p.Tyr205His)	SCN5A (Y205H)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072324	NM_000335.5(SCN5A):c.3215A>C (p.Glu1072Ala)	LOC110121269, SCN5A (E1072A)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072317	NM_000335.5(SCN5A):c.5005A>G (p.Ile1669Val)	SCN5A (I1616V +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072302	NM_000335.5(SCN5A):c.247C>G (p.Leu83Val)	SCN5A (L83V)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance

<< First< Prev

Page of 42