ClinVar for MedGen (Select 349087) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362401	NM_000335.5(SCN5A):c.2978C>T (p.Ala993Val)	LOC110121269, SCN5A (A993V)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 3	GUncertain significance
Select item 3062283	NM_000335.5(SCN5A):c.4414T>A (p.Phe1472Ile)	SCN5A (F1419I +4 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 1 +1 more	GLikely pathogenic
Select item 3027437	NM_000335.5(SCN5A):c.1890+2T>G	SCN5A	Single nucleotide variant (splice donor variant)	Long QT syndrome 3	GPathogenic
Select item 2574114	NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter)	SCN5A (Y168*)	Single nucleotide variant (nonsense +1 more)	Brugada syndrome 1 +1 more	GLikely pathogenic
Select item 2574113	NM_000335.5(SCN5A):c.3388-1G>C	SCN5A	Single nucleotide variant (splice acceptor variant)	Brugada syndrome 1 +1 more	GLikely pathogenic
Select item 2500084	NM_000335.5(SCN5A):c.3877G>A (p.Ala1293Thr)	SCN5A (A1240T +2 more)	Single nucleotide variant (missense variant +1 more)	Atrial fibrillation, familial, 10 +7 more	GUncertain significance
Select item 1992327	NM_000335.5(SCN5A):c.4787T>C (p.Val1596Ala)	SCN5A (V1597A +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 3 +1 more	GUncertain significance
Select item 1691225	NM_000335.5(SCN5A):c.3866C>T (p.Thr1289Ile)	SCN5A (T1236I +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3	GUncertain significance
Select item 1677915	NM_000335.5(SCN5A):c.760A>T (p.Met254Leu)	SCN5A (M254L)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +8 more	GUncertain significance
Select item 1677445	NM_000335.5(SCN5A):c.4948A>T (p.Met1650Leu)	SCN5A (M1597L +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1484935	NM_000335.5(SCN5A):c.3601G>A (p.Val1201Met)	SCN5A (V1202M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 1484019	NM_000335.5(SCN5A):c.2599G>A (p.Glu867Lys)	SCN5A (E867K)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 1439111	NM_000335.5(SCN5A):c.2262+18C>G	SCN5A	Single nucleotide variant (intron variant)	Progressive familial heart block, type 1A +8 more	GUncertain significance
Select item 1332340	NM_000335.5(SCN5A):c.5488A>C (p.Asn1830His)	SCN5A (N1777H +5 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +8 more	GUncertain significance
Select item 1217646	NM_000335.5(SCN5A):c.3913C>G (p.Arg1305Gly)	SCN5A (R1252G +2 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1213746	NM_000335.5(SCN5A):c.274-5C>G	SCN5A	Single nucleotide variant (intron variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 1171964	NM_000335.5(SCN5A):c.5086T>C (p.Phe1696Leu)	SCN5A (F1643L +5 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +8 more	GUncertain significance
Select item 1171936	NM_000335.5(SCN5A):c.3530G>C (p.Cys1177Ser)	SCN5A (C1124S +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +9 more	GUncertain significance
Select item 1171846	NM_000335.5(SCN5A):c.3497G>A (p.Cys1166Tyr)	SCN5A (C1113Y +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +9 more	GUncertain significance
Select item 1171405	NM_000335.5(SCN5A):c.5900_5908dup (p.Ile1967_Ser1969dup)	SCN5A	Duplication (inframe_insertion)	Brugada syndrome 1 +8 more	GUncertain significance
Select item 1155390	NM_000335.5(SCN5A):c.1794T>C (p.Asn598=)	SCN5A	Single nucleotide variant (synonymous variant)	Brugada syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 1131160	NM_000335.5(SCN5A):c.2694G>A (p.Glu898=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +9 more	GLikely benign
Select item 1117378	NM_000335.5(SCN5A):c.1677A>G (p.Thr559=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +10 more	GLikely benign
Select item 1116101	NM_000335.5(SCN5A):c.786C>T (p.Ser262=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +9 more	GLikely benign
Select item 1043880	NM_000335.5(SCN5A):c.508T>A (p.Phe170Ile)	SCN5A (F170I)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 1022855	NM_000335.5(SCN5A):c.5948C>T (p.Thr1983Ile)	SCN5A (T1930I +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1015850	NM_000335.5(SCN5A):c.2275A>G (p.Ile759Val)	SCN5A (I759V)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 1012496	NM_000335.5(SCN5A):c.1613G>T (p.Gly538Val)	SCN5A (G538V)	Single nucleotide variant (missense variant)	Brugada syndrome +8 more	GUncertain significance
Select item 1000832	NM_000335.5(SCN5A):c.5536C>G (p.Arg1846Gly)	SCN5A (R1793G +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1000020	NM_000335.5(SCN5A):c.5624A>T (p.Glu1875Val)	SCN5A (E1822V +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 979100	NM_000335.5(SCN5A):c.3437C>A (p.Thr1146Asn)	SCN5A (T1093N +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +3 more	GUncertain significance
Select item 979075	NM_000335.5(SCN5A):c.2335del (p.Gln779fs)	SCN5A (Q779fs)	Deletion (frameshift variant)	Long QT syndrome 3 +1 more	GLikely pathogenic
Select item 978725	NM_000335.5(SCN5A):c.2482C>G (p.Leu828Val)	SCN5A (L828V)	Single nucleotide variant (missense variant)	Long QT syndrome 3	GPathogenic
Select item 978333	NM_000335.5(SCN5A):c.5811A>C (p.Glu1937Asp)	SCN5A (E1884D +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +9 more	GUncertain significance
Select item 972689	NM_000335.5(SCN5A):c.2078G>T (p.Arg693Leu)	SCN5A (R693L)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GUncertain significance
Select item 969680	NM_000335.5(SCN5A):c.3068G>C (p.Arg1023Pro)	LOC110121269, SCN5A (R1023P)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +10 more	GUncertain significance
Select item 961405	NM_000335.5(SCN5A):c.4613G>A (p.Cys1538Tyr)	SCN5A (C1485Y +4 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +10 more	GUncertain significance
Select item 956871	NM_000335.5(SCN5A):c.458C>T (p.Pro153Leu)	SCN5A (P153L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1E +9 more	GUncertain significance
Select item 928274	NM_000335.5(SCN5A):c.6007T>A (p.Phe2003Ile)	SCN5A (F1971I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 928169	NM_000335.5(SCN5A):c.1859G>A (p.Arg620His)	SCN5A (R620H)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GUncertain significance
Select item 927646	NM_000335.5(SCN5A):c.3388A>T (p.Thr1130Ser)	SCN5A (T1077S +2 more)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 926706	NM_000335.5(SCN5A):c.1388T>G (p.Met463Arg)	SCN5A (M463R)	Single nucleotide variant (missense variant)	Brugada syndrome +9 more	GUncertain significance
Select item 926646	NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe)	LOC110121269, SCN5A (S1102F +1 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 1 +10 more	GUncertain significance
Select item 926368	NM_000335.5(SCN5A):c.3577T>A (p.Leu1193Met)	SCN5A (L1140M +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +9 more	GUncertain significance
Select item 924596	NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter)	SCN5A (R43*)	Single nucleotide variant (nonsense)	Brugada syndrome 1 +2 more	GPathogenic
Select item 923466	NM_000335.5(SCN5A):c.3523T>C (p.Cys1175Arg)	SCN5A (C1175R +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +9 more	GUncertain significance
Select item 922810	NM_000335.5(SCN5A):c.3564G>A (p.Lys1188=)	SCN5A	Single nucleotide variant (synonymous variant)	Brugada syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 922452	NM_000335.5(SCN5A):c.1946G>A (p.Cys649Tyr)	SCN5A (C649Y)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +10 more	GUncertain significance
Select item 920608	NM_000335.5(SCN5A):c.5855G>A (p.Ser1952Asn)	SCN5A (S1899N +5 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 920535	NM_000335.5(SCN5A):c.5452_5454delinsAAC (p.Asp1818Asn)	SCN5A (D1801N +5 more)	Indel (missense variant)	Brugada syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 920324	NM_000335.5(SCN5A):c.1955G>A (p.Gly652Asp)	SCN5A (G652D)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +9 more	GUncertain significance
Select item 919345	NM_000335.5(SCN5A):c.229G>A (p.Gly77Arg)	SCN5A (G77R)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +9 more	GUncertain significance
Select item 903445	NM_000335.5(SCN5A):c.*1058G>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 903252	NM_000335.5(SCN5A):c.5218G>A (p.Asp1740Asn)	SCN5A (D1687N +5 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 903251	NM_000335.5(SCN5A):c.*1743G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 902779	NM_000335.5(SCN5A):c.*659C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 902600	NM_000335.5(SCN5A):c.*1060G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 902458	NM_000335.5(SCN5A):c.*1414G>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 902396	NM_000335.5(SCN5A):c.5250C>T (p.Phe1750=)	SCN5A	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 902395	NM_000335.5(SCN5A):c.*1802G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 902319	NM_000335.5(SCN5A):c.*2007G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 3 +5 more	GUncertain significance
Select item 901941	NM_000335.5(SCN5A):c.*475T>C	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 901880	NM_000335.5(SCN5A):c.2945G>A (p.Cys982Tyr)	LOC110121269, SCN5A (C982Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 901879	NM_000335.5(SCN5A):c.*662C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 901677	NM_000335.5(SCN5A):c.3503C>G (p.Thr1168Ser)	SCN5A (T1115S +2 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +6 more	GUncertain significance
Select item 901564	NM_000335.5(SCN5A):c.3993G>A (p.Pro1331=)	SCN5A	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 901139	NM_000335.5(SCN5A):c.3524G>A (p.Cys1175Tyr)	SCN5A (C1122Y +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 900863	NM_000335.5(SCN5A):c.656G>C (p.Arg219Pro)	SCN5A (R219P)	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 900862	NM_000335.5(SCN5A):c.*1166G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 900861	NM_000335.5(SCN5A):c.*1201C>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 900711	NM_000335.5(SCN5A):c.*1820C>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 3 +5 more	GConflicting classifications of pathogenicity
Select item 900347	NM_000335.5(SCN5A):c.*131G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 900234	NM_000335.5(SCN5A):c.2889G>A (p.Leu963=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 900233	NM_000335.5(SCN5A):c.*587C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 900232	NM_000335.5(SCN5A):c.*614G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +6 more	GBenign/Likely benign
Select item 900166	NM_000335.5(SCN5A):c.*688C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 900100	NM_000335.5(SCN5A):c.3259G>T (p.Ala1087Ser)	LOC110121269, SCN5A (A1088S +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 3 +5 more	GUncertain significance
Select item 899960	NM_000335.5(SCN5A):c.3545C>T (p.Thr1182Ile)	SCN5A (T1182I +2 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +6 more	GUncertain significance
Select item 899894	NM_000335.5(SCN5A):c.-80C>A	SCN5A	Single nucleotide variant (5 prime UTR variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 899837	NM_000335.5(SCN5A):c.4073A>C (p.Lys1358Thr)	SCN5A (K1305T +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 899777	NM_000335.5(SCN5A):c.4296+4G>T	SCN5A	Single nucleotide variant (intron variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 899776	NM_000335.5(SCN5A):c.*1151G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GUncertain significance
Select item 899715	NM_000335.5(SCN5A):c.*1284G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1E +5 more	GBenign/Likely benign
Select item 899646	NM_000335.5(SCN5A):c.*1555C>T	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 899572	NM_000335.5(SCN5A):c.1368G>C (p.Val456=)	SCN5A	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 1 +5 more	GUncertain significance
Select item 899571	NM_000335.5(SCN5A):c.*1843T>G	SCN5A	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 899570	NM_000335.5(SCN5A):c.*1884G>A	SCN5A	Single nucleotide variant (3 prime UTR variant)	Progressive familial heart block, type 1A +5 more	GBenign/Likely benign
Select item 899510	NM_000335.5(SCN5A):c.5485C>A (p.Pro1829Thr)	SCN5A (P1776T +5 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +5 more	GUncertain significance
Select item 899509	NM_000335.5(SCN5A):c.5521A>T (p.Met1841Leu)	SCN5A (M1788L +5 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +6 more	GUncertain significance
Select item 870402	NM_000335.5(SCN5A):c.3803A>G (p.Asn1268Ser)	SCN5A (N1215S +2 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +8 more	GUncertain significance
Select item 860476	NM_000335.5(SCN5A):c.2294C>T (p.Thr765Ile)	SCN5A (T765I)	Single nucleotide variant (missense variant)	Progressive familial heart block, type 1A +9 more	GUncertain significance
Select item 859644	NM_000335.5(SCN5A):c.5365G>A (p.Asp1789Asn)	SCN5A (D1736N +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +8 more	GUncertain significance
Select item 853715	NM_000335.5(SCN5A):c.1457C>G (p.Thr486Ser)	SCN5A (T486S)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +9 more	GUncertain significance
Select item 850004	NM_000335.5(SCN5A):c.316A>G (p.Ser106Gly)	SCN5A (S106G)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +9 more	GUncertain significance
Select item 847156	NM_000335.5(SCN5A):c.2621G>A (p.Gly874Asp)	SCN5A (G874D)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +9 more	GUncertain significance
Select item 829871	NM_000335.5(SCN5A):c.3838-50A>C	SCN5A	Single nucleotide variant (intron variant)	Long QT syndrome 3	GUncertain significance
Select item 809451	NM_000335.5(SCN5A):c.246C>G (p.Asp82Glu)	SCN5A (D82E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 more	GUncertain significance
Select item 809450	NM_000335.5(SCN5A):c.1517T>A (p.Met506Lys)	SCN5A (M506K)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +10 more	GUncertain significance
Select item 755311	NM_000335.5(SCN5A):c.168G>A (p.Leu56=)	SCN5A	Single nucleotide variant (synonymous variant)	Brugada syndrome +8 more	GLikely benign
Select item 705465	NM_000335.5(SCN5A):c.1992C>T (p.Ser664=)	SCN5A	Single nucleotide variant (synonymous variant)	Brugada syndrome +10 more	GLikely benign

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