ClinVar for MedGen (Select 1646402) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338284	NM_000335.5(SCN5A):c.4030_4041del (p.Trp1344_Phe1347del)	SCN5A	Deletion (inframe_deletion +1 more)	Brugada syndrome 1	GUncertain significance
Select item 3248566	NM_000335.5(SCN5A):c.1978C>T (p.Gln660Ter)	SCN5A (Q660*)	Single nucleotide variant (nonsense +1 more)	Brugada syndrome 1	GPathogenic
Select item 3242419	NM_001038.6(SCNN1A):c.1486G>A (p.Val496Met)	SCNN1A (V496M +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1	GUncertain significance
Select item 3242413	NM_170741.4(KCNJ16):c.664C>T (p.Arg222Cys)	KCNJ16 (R222C)	Single nucleotide variant (missense variant)	Brugada syndrome 1	GUncertain significance
Select item 3238947	NM_000335.5(SCN5A):c.1551del (p.Thr518fs)	SCN5A (T518fs)	Deletion (frameshift variant +1 more)	Brugada syndrome 1	GPathogenic
Select item 3236438	NM_000335.5(SCN5A):c.4285G>A (p.Asp1429Asn)	SCN5A (D1376N +2 more)	Single nucleotide variant (missense variant +2 more)	Brugada syndrome 1	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 2584831	NM_000335.5(SCN5A):c.5540T>G (p.Ile1847Ser)	SCN5A (I1794S +5 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 1	GUncertain significance
Select item 2582527	NM_000335.5(SCN5A):c.2677C>A (p.Arg893Ser)	SCN5A (R893S)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 1	GLikely pathogenic
Select item 2576598	NM_000335.5(SCN5A):c.2704A>T (p.Thr902Ser)	SCN5A (T902S)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 1	GUncertain significance
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 2500778	NM_000335.5(SCN5A):c.5896del (p.Ser1966fs)	SCN5A (S1913fs +5 more)	Deletion (frameshift variant +1 more)	Brugada syndrome 1	GUncertain significance
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 2444515	NM_000335.5(SCN5A):c.840C>A (p.Cys280Ter)	SCN5A (C280*)	Single nucleotide variant (nonsense)	Brugada syndrome 1	GLikely pathogenic
Select item 2006013	NM_000335.5(SCN5A):c.2803C>G (p.Leu935Val)	LOC110121269, SCN5A (L935V)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +1 more	GUncertain significance
Select item 1803812	NM_000335.5(SCN5A):c.104dup (p.Ser36fs)	SCN5A (S36fs)	Duplication (frameshift variant)	Brugada syndrome 1	GPathogenic
Select item 1710264	NM_001037.5(SCN1B):c.457_458delinsT (p.Asp153fs)	SCN1B (D120fs +1 more)	Indel (frameshift variant)	Brugada syndrome 1	GUncertain significance
Select item 1691761	NM_000335.5(SCN5A):c.175C>T (p.Gln59Ter)	SCN5A (Q59*)	Single nucleotide variant (nonsense)	Brugada syndrome +2 more	GPathogenic/Likely pathogenic
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 1527872	NM_000335.5(SCN5A):c.4296G>T (p.Gly1432=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 1	GLikely pathogenic
Select item 1527869	NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu)	SCN5A (R893L)	Single nucleotide variant (missense variant)	Brugada syndrome 1	GPathogenic
Select item 1524388	NM_000335.5(SCN5A):c.5248TTC[1] (p.Phe1751del)	SCN5A (F1698del +5 more)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1484935	NM_000335.5(SCN5A):c.3601G>A (p.Val1201Met)	SCN5A (V1202M +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1E +10 more	GUncertain significance
Select item 1484019	NM_000335.5(SCN5A):c.2599G>A (p.Glu867Lys)	SCN5A (E867K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1E +9 more	GUncertain significance
Select item 1482306	NM_000335.5(SCN5A):c.4189G>A (p.Val1397Met)	SCN5A (V1397M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1439111	NM_000335.5(SCN5A):c.2262+18C>G	SCN5A	Single nucleotide variant (intron variant)	not provided +8 more	GUncertain significance
Select item 1430298	NM_000335.5(SCN5A):c.3561G>T (p.Gly1187=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +3 more	GUncertain significance
Select item 1406965	NM_000335.5(SCN5A):c.836A>G (p.Lys279Arg)	SCN5A (K279R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1345786	NM_000335.5(SCN5A):c.703+1G>C	SCN5A	Single nucleotide variant (splice donor variant +1 more)	Brugada syndrome 1 +1 more	GLikely pathogenic
Select item 1332340	NM_000335.5(SCN5A):c.5488A>C (p.Asn1830His)	SCN5A (N1777H +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +8 more	GUncertain significance
Select item 1327133	NM_000335.5(SCN5A):c.3837+12C>T	SCN5A	Single nucleotide variant (intron variant)	Brugada syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1327132	NM_000335.5(SCN5A):c.4296+1del	SCN5A	Deletion (splice donor variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 1326912	NM_000335.5(SCN5A):c.4810+5G>A	SCN5A	Single nucleotide variant (intron variant)	Brugada syndrome 1	GLikely pathogenic
Select item 1326908	NM_000335.5(SCN5A):c.935-3C>G	SCN5A	Single nucleotide variant (intron variant)	Brugada syndrome 1	GLikely pathogenic
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)	Sick sinus syndrome 1 +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 1171664	NM_000335.5(SCN5A):c.832C>T (p.His278Tyr)	SCN5A (H278Y)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +1 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)	Long QT syndrome 3 +8 more	GConflicting classifications of pathogenicity
Select item 1131160	NM_000335.5(SCN5A):c.2694G>A (p.Glu898=)	SCN5A	Single nucleotide variant (synonymous variant)	Long QT syndrome 3 +9 more	GLikely benign
Select item 1117378	NM_000335.5(SCN5A):c.1677A>G (p.Thr559=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +10 more	GLikely benign
Select item 1116101	NM_000335.5(SCN5A):c.786C>T (p.Ser262=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +9 more	GLikely benign
Select item 1055232	NM_000335.5(SCN5A):c.4712C>G (p.Thr1571Arg)	SCN5A (T1518R +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +1 more	GUncertain significance
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 1041885	NM_000335.5(SCN5A):c.1058C>G (p.Thr353Ser)	SCN5A (T353S)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +1 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)	Cardiovascular phenotype +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)	Progressive familial heart block, type 1A +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)	Progressive familial heart block, type 1A +8 more	GUncertain significance
Select item 995803	NM_000335.5(SCN5A):c.2777G>A (p.Gly926Asp)	SCN5A (G926D)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 982413	NM_000335.5(SCN5A):c.4513C>T (p.Pro1505Ser)	SCN5A (P1452S +4 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 979203	NM_000335.5(SCN5A):c.2787+2T>A	SCN5A	Single nucleotide variant (splice donor variant)	Brugada syndrome 1	GPathogenic
Select item 979202	NM_000335.5(SCN5A):c.3688G>T (p.Glu1230Ter)	SCN5A (E1177* +2 more)	Single nucleotide variant (nonsense)	Brugada syndrome 1	GPathogenic
Select item 979100	NM_000335.5(SCN5A):c.3437C>A (p.Thr1146Asn)	SCN5A (T1093N +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +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 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 978332	NM_000335.5(SCN5A):c.1850A>T (p.His617Leu)	SCN5A (H617L)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +2 more	GUncertain significance
Select item 976261	NM_000335.5(SCN5A):c.5827_5830del (p.Glu1944fs)	SCN5A (E1891fs +5 more)	Deletion (frameshift variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 972696	NM_000335.5(SCN5A):c.1198G>T (p.Gly400Trp)	SCN5A (G400W)	Single nucleotide variant (missense variant)	Brugada syndrome 1	GLikely pathogenic
Select item 972691	NM_000335.5(SCN5A):c.1963G>T (p.Glu655Ter)	SCN5A (E655*)	Single nucleotide variant (nonsense)	Brugada syndrome 1	GPathogenic
Select item 972689	NM_000335.5(SCN5A):c.2078G>T (p.Arg693Leu)	SCN5A (R693L)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +3 more	GUncertain significance
Select item 969680	NM_000335.5(SCN5A):c.3068G>C (p.Arg1023Pro)	LOC110121269, SCN5A (R1023P)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 10 +10 more	GUncertain significance
Select item 967836	NM_000335.5(SCN5A):c.1558A>G (p.Met520Val)	SCN5A (M520V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 962858	NM_000335.5(SCN5A):c.3738A>G (p.Thr1246=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 961405	NM_000335.5(SCN5A):c.4613G>A (p.Cys1538Tyr)	SCN5A (C1485Y +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	Cardiac arrhythmia +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)	Cardiac arrhythmia +9 more	GUncertain significance
Select item 926706	NM_000335.5(SCN5A):c.1388T>G (p.Met463Arg)	SCN5A (M463R)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +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)	Cardiac arrhythmia +10 more	GUncertain significance
Select item 926452	NM_000335.5(SCN5A):c.3913C>T (p.Arg1305Cys)	SCN5A (R1306C +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +3 more	GConflicting classifications of pathogenicity
Select item 926368	NM_000335.5(SCN5A):c.3577T>A (p.Leu1193Met)	SCN5A (L1140M +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GUncertain significance
Select item 926157	NM_000335.5(SCN5A):c.3663+4C>G	SCN5A	Single nucleotide variant (intron variant)	Brugada syndrome +2 more	GConflicting classifications of pathogenicity
Select item 925869	NM_000335.5(SCN5A):c.2548G>A (p.Val850Met)	SCN5A (V850M)	Single nucleotide variant (missense variant)	Brugada syndrome +4 more	GUncertain significance
Select item 925221	NM_000335.5(SCN5A):c.2520G>T (p.Gly840=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +3 more	GLikely benign
Select item 924596	NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter)	SCN5A (R43*)	Single nucleotide variant (nonsense)	Long QT syndrome 3 +2 more	GPathogenic
Select item 923998	NM_000335.5(SCN5A):c.2251G>A (p.Val751Ile)	SCN5A (V751I)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 923466	NM_000335.5(SCN5A):c.3523T>C (p.Cys1175Arg)	SCN5A (C1175R +2 more)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 923272	NM_000335.5(SCN5A):c.4001T>G (p.Met1334Arg)	SCN5A (M1281R +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 922810	NM_000335.5(SCN5A):c.3564G>A (p.Lys1188=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +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)	Cardiac arrhythmia +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)	Cardiovascular phenotype +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)	Cardiac arrhythmia +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)	not provided +9 more	GUncertain significance
Select item 919970	NM_000335.5(SCN5A):c.3661C>T (p.Leu1221=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 919345	NM_000335.5(SCN5A):c.229G>A (p.Gly77Arg)	SCN5A (G77R)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +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

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