ClinVar for MedGen (Select 52548) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Sick sinus syndrome 1 +9 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 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 1327459	NM_001743.6(CALM2):c.340G>A (p.Gly114Arg)	CALM2 (G114R +2 more)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME	GPathogenic
Select item 1327138	NM_001347721.2(DYRK1A):c.1501A>G (p.Ser501Gly)	DYRK1A (S472G +2 more)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME	GUncertain significance
Select item 1327137	NM_001242896.3(DEPDC5):c.2105-1G>A	DEPDC5	Single nucleotide variant (splice acceptor variant)	SUDDEN INFANT DEATH SYNDROME	GLikely pathogenic
Select item 1327136	NM_001083962.2(TCF4):c.562T>A (p.Ser188Thr)	TCF4 (S117T +10 more)	Single nucleotide variant (missense variant +1 more)	SUDDEN INFANT DEATH SYNDROME	GUncertain significance
Select item 1327135	NM_001267550.2(TTN):c.43622C>T (p.Ser14541Leu)	TTN (S11973L +5 more)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME	GUncertain significance
Select item 1327134	NM_001242896.3(DEPDC5):c.2446C>T (p.Gln816Ter)	DEPDC5 (Q738* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1327133	NM_000335.5(SCN5A):c.3837+12C>T	SCN5A	Single nucleotide variant (intron variant)	not provided +1 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 1327131	NM_001458.5(FLNC):c.3964+5G>A	FLNC	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +4 more	GUncertain significance
Select item 1327130	NM_007202.4(AKAP10):c.850A>G (p.Lys284Glu)	AKAP10 (K284E)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME	GUncertain significance
Select item 1327129	NM_001330260.2(SCN8A):c.3284G>A (p.Arg1095Gln)	SCN8A (R1095Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1327128	NM_000334.4(SCN4A):c.2045C>G (p.Ser682Trp)	GH-LCR, SCN4A (S682W)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME	GUncertain significance
Select item 1327127	NM_001165963.4(SCN1A):c.2045G>T (p.Gly682Val)	SCN1A (G653V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1327126	NM_001099922.3(ALG13):c.2525A>G (p.Gln842Arg)	ALG13 (Q680R +3 more)	Single nucleotide variant (missense variant +1 more)	SUDDEN INFANT DEATH SYNDROME	GUncertain significance
Select item 1315454	NM_001267550.2(TTN):c.91721A>T (p.Glu30574Val)	TTN, TTN-AS1 (E21509V +5 more)	Single nucleotide variant (missense variant)	not provided +1 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)	not provided +10 more	GUncertain significance
Select item 1199823	NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His)	CACNA1A (R1122H +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +3 more	GConflicting classifications of pathogenicity
Select item 1171964	NM_000335.5(SCN5A):c.5086T>C (p.Phe1696Leu)	SCN5A (F1643L +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +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)	Sick sinus 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)	Sick sinus syndrome 1 +9 more	GUncertain significance
Select item 1171405	NM_000335.5(SCN5A):c.5900_5908dup (p.Ile1967_Ser1969dup)	SCN5A	Duplication (inframe_insertion)	Sick sinus syndrome 1 +8 more	GUncertain significance
Select item 1155390	NM_000335.5(SCN5A):c.1794T>C (p.Asn598=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1131160	NM_000335.5(SCN5A):c.2694G>A (p.Glu898=)	SCN5A	Single nucleotide variant (synonymous variant)	Brugada syndrome 1 +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)	Brugada syndrome +9 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)	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)	Progressive familial heart block, type 1A +8 more	GUncertain significance
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 969680	NM_000335.5(SCN5A):c.3068G>C (p.Arg1023Pro)	LOC110121269, SCN5A (R1023P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	not provided +10 more	GUncertain significance
Select item 956871	NM_000335.5(SCN5A):c.458C>T (p.Pro153Leu)	SCN5A (P153L)	Single nucleotide variant (missense variant)	Cardiomyopathy +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)	Brugada syndrome 1 +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)	Brugada syndrome 1 +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)	Cardiac arrhythmia +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)	Cardiac arrhythmia +9 more	GUncertain significance
Select item 923466	NM_000335.5(SCN5A):c.3523T>C (p.Cys1175Arg)	SCN5A (C1175R +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +8 more	GUncertain significance
Select item 922810	NM_000335.5(SCN5A):c.3564G>A (p.Lys1188=)	SCN5A	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 10 +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)	Atrial fibrillation, familial, 10 +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)	Atrial fibrillation, familial, 10 +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 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 860476	NM_000335.5(SCN5A):c.2294C>T (p.Thr765Ile)	SCN5A (T765I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	not provided +8 more	GUncertain significance
Select item 853715	NM_000335.5(SCN5A):c.1457C>G (p.Thr486Ser)	SCN5A (T486S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 10 +9 more	GUncertain significance
Select item 850004	NM_000335.5(SCN5A):c.316A>G (p.Ser106Gly)	SCN5A (S106G)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GUncertain significance
Select item 847156	NM_000335.5(SCN5A):c.2621G>A (p.Gly874Asp)	SCN5A (G874D)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GUncertain significance
Select item 809451	NM_000335.5(SCN5A):c.246C>G (p.Asp82Glu)	SCN5A (D82E)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +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
Select item 647822	NM_000335.5(SCN5A):c.3944G>A (p.Arg1315Gln)	SCN5A (R1262Q +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GUncertain significance
Select item 642228	NM_000335.5(SCN5A):c.3439G>A (p.Ala1147Thr)	SCN5A (A1094T +2 more)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 633412	NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile)	SCN5A (V728I)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +11 more	GUncertain significance
Select item 628989	NM_000335.5(SCN5A):c.1606G>C (p.Asp536His)	SCN5A (D536H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1E +8 more	GUncertain significance
Select item 628960	NM_000335.5(SCN5A):c.5403C>G (p.Asp1801Glu)	SCN5A (D1801E +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GUncertain significance
Select item 583074	NM_000335.5(SCN5A):c.616A>T (p.Thr206Ser)	SCN5A (T206S)	Single nucleotide variant (missense variant +1 more)	not provided +10 more	GUncertain significance
Select item 582721	NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val)	SCN5A (A1931V +5 more)	Single nucleotide variant (missense variant)	Progressive familial heart block, type 1A +11 more	GConflicting classifications of pathogenicity
Select item 582128	NM_000335.5(SCN5A):c.5372A>T (p.Asp1791Val)	SCN5A (D1791V +5 more)	Single nucleotide variant (missense variant)	Progressive familial heart block, type 1A +8 more	GUncertain significance
Select item 579030	NM_000335.5(SCN5A):c.3079C>T (p.Arg1027Trp)	LOC110121269, SCN5A (R1027W)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +10 more	GUncertain significance
Select item 578662	NM_000335.5(SCN5A):c.893G>A (p.Gly298Asp)	SCN5A (G298D)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GUncertain significance
Select item 576224	NM_000335.5(SCN5A):c.368C>T (p.Ala123Val)	SCN5A (A123V)	Single nucleotide variant (missense variant)	not specified +10 more	GUncertain significance
Select item 575108	NM_000335.5(SCN5A):c.1597C>T (p.Arg533Cys)	SCN5A (R533C)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +10 more	GUncertain significance
Select item 569341	NM_000335.5(SCN5A):c.2038C>T (p.Arg680Cys)	SCN5A (R680C)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +10 more	GUncertain significance
Select item 565598	NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr)	LOC110121269, SCN5A (A1050T)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 546467	NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp)	TNNI3 (R186W)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +4 more	GConflicting classifications of pathogenicity
Select item 532094	NM_000335.5(SCN5A):c.5454_5455inv (p.Ala1819Thr)	SCN5A (A1802T +5 more)	Inversion (missense variant)	not specified +10 more	GUncertain significance
Select item 532068	NM_000335.5(SCN5A):c.3301G>A (p.Ala1101Thr)	LOC110121269, SCN5A (A1102T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 532063	NM_000335.5(SCN5A):c.6004G>A (p.Asp2002Asn)	SCN5A (D2002N +5 more)	Single nucleotide variant (missense variant)	not specified +11 more	GUncertain significance
Select item 530477	NM_001165963.4(SCN1A):c.3886T>A (p.Leu1296Met)	LOC102724058, SCN1A (L1296M +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 520458	NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln)	LOC110121269, SCN5A (R1027Q)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 519424	NM_000335.5(SCN5A):c.2432G>A (p.Arg811His)	SCN5A (R811H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GUncertain significance
Select item 503982	NM_000335.5(SCN5A):c.3214_3215inv (p.Glu1072Ser)	LOC110121269, SCN5A (E1072S)	Inversion (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 463314	NM_000335.5(SCN5A):c.280A>G (p.Ile94Val)	SCN5A (I94V)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +12 more	GUncertain significance
Select item 463312	NM_000335.5(SCN5A):c.2597C>T (p.Ser866Leu)	SCN5A (S866L)	Single nucleotide variant (missense variant)	SCN5A-related disorder +12 more	GUncertain significance
Select item 463301	NM_000335.5(SCN5A):c.1557T>C (p.Ser519=)	SCN5A	Single nucleotide variant (synonymous variant)	SCN5A-related disorder +11 more	GLikely benign
Select item 451513	NM_000335.5(SCN5A):c.3967G>A (p.Val1323Ile)	SCN5A (V1323I +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +9 more	GUncertain significance
Select item 449205	NM_000335.5(SCN5A):c.2398C>T (p.Arg800Cys)	SCN5A (R800C)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +10 more	GUncertain significance
Select item 440929	NM_000335.5(SCN5A):c.1076C>A (p.Ala359Asp)	SCN5A (A359D)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	Gnot provided
Select item 440849	NM_198056.2(SCN5A):c.[1535C>T;1673A>G]	SCN5A (H558R +1 more)	Single nucleotide variant (missense variant)	Progressive familial heart block, type 1A	GPathogenic
Select item 440848	NM_198056.2(SCN5A):c.[3694C>T;4859C>T]	SCN5A (R1232W +8 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1	GPathogenic
Select item 423924	NM_000335.5(SCN5A):c.2077C>T (p.Arg693Cys)	SCN5A (R693C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 406448	NM_000335.5(SCN5A):c.3521G>A (p.Arg1174His)	SCN5A (R1174H +2 more)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 406445	NM_000335.5(SCN5A):c.1498G>A (p.Glu500Lys)	SCN5A (E500K)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 406444	NM_000335.5(SCN5A):c.5687G>A (p.Arg1896Gln)	SCN5A (R1896Q +5 more)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 406431	NM_000335.5(SCN5A):c.4873C>T (p.Arg1625Cys)	SCN5A (R1625C +5 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 406421	NM_000335.5(SCN5A):c.1051G>A (p.Gly351Ser)	SCN5A (G351S)	Single nucleotide variant (missense variant)	Ventricular fibrillation, paroxysmal familial, type 1 +10 more	GUncertain significance

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