"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68027	NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys)	SCN5A (R2011C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 48315	NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)	SCN5A (F2003L +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +12 more	GConflicting classifications of pathogenicity
Select item 1171365	NM_000335.5(SCN5A):c.5940T>C (p.Thr1980=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 68003	NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp)	SCN5A (R1896W +5 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +13 more	GUncertain significance
Select item 923312	NM_000335.5(SCN5A):c.5664C>T (p.Tyr1888=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GBenign/Likely benign
Select item 48307	NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +10 more	GBenign/Likely benign
Select item 9382	NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp)	SCN5A	Duplication (inframe_insertion)	not provided +2 more	GPathogenic
Select item 9377	NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	SCN5A (E1784K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 242201	NM_000335.5(SCN5A):c.5223C>T (p.Cys1741=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 67962	NM_000335.5(SCN5A):c.5171C>T (p.Pro1724Leu)	SCN5A (P1724L +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 67957	NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met)	SCN5A (T1708M +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 67947	NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)	SCN5A (I1659V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 67924	NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)	SCN5A (F1595I +4 more)	Single nucleotide variant (missense variant +1 more)	Sick sinus syndrome 1 +13 more	GConflicting classifications of pathogenicity
Select item 36763	NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiomyopathy +10 more	GConflicting classifications of pathogenicity
Select item 165139	NM_000335.5(SCN5A):c.4297-14T>C	SCN5A	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1E +8 more	GConflicting classifications of pathogenicity
Select item 36761	NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 48303	NM_000335.5(SCN5A):c.4209C>T (p.Asn1403=)	SCN5A	Single nucleotide variant (synonymous variant)	Brugada syndrome +3 more	GLikely benign
Select item 48302	NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=)	SCN5A	Single nucleotide variant (synonymous variant)	Brugada syndrome +3 more	GBenign/Likely benign
Select item 629563	NM_000335.5(SCN5A):c.4071G>A (p.Gly1357=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GBenign/Likely benign
Select item 67838	NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)	SCN5A (G1318V +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +12 more	GPathogenic/Likely pathogenic
Select item 139061	NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)	SCN5A	Single nucleotide variant (synonymous variant)	Ventricular fibrillation, paroxysmal familial, type 1 +10 more	GConflicting classifications of pathogenicity
Select item 1299874	NM_000335.5(SCN5A):c.3598A>T (p.Ile1200Phe)	SCN5A (I1147F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36760	NM_000335.5(SCN5A):c.3508+10C>T	SCN5A	Single nucleotide variant (intron variant)	Ventricular fibrillation, paroxysmal familial, type 1 +8 more	GBenign/Likely benign
Select item 381490	NM_000335.5(SCN5A):c.3468C>T (p.Leu1156=)	SCN5A	Single nucleotide variant (synonymous variant)	SCN5A-related disorder +3 more	GBenign/Likely benign
Select item 201494	NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile)	SCN5A (S1134I +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GUncertain significance
Select item 345119	NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome +10 more	GConflicting classifications of pathogenicity
Select item 1124641	NM_000335.5(SCN5A):c.3213G>A (p.Glu1071=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 48297	NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1E +10 more	GBenign/Likely benign
Select item 9400	NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)	LOC110121269, SCN5A (E1053K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 565598	NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr)	LOC110121269, SCN5A (A1050T)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +10 more	GConflicting classifications of pathogenicity
Select item 67769	NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)	LOC110121269, SCN5A (C982R)	Single nucleotide variant (missense variant)	Ventricular fibrillation, paroxysmal familial, type 1 +12 more	GConflicting classifications of pathogenicity
Select item 201483	NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln)	LOC110121269, SCN5A (R975Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 1284730	NM_000335.5(SCN5A):c.2787+19AC[13]	SCN5A	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1284694	NM_000335.5(SCN5A):c.2787+19AC[12]	SCN5A	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 201561	NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs)	SCN5A (F861fs)	Deletion (frameshift variant)	Brugada syndrome +3 more	GPathogenic
Select item 139054	NM_000335.5(SCN5A):c.2437-5C>A	SCN5A	Single nucleotide variant (intron variant)	Cardiovascular phenotype +11 more	GConflicting classifications of pathogenicity
Select item 165150	NM_000335.5(SCN5A):c.2437-13C>T	SCN5A	Single nucleotide variant (intron variant)	Cardiac arrhythmia +8 more	GConflicting classifications of pathogenicity
Select item 36758	NM_000335.5(SCN5A):c.2436+12G>A	SCN5A	Single nucleotide variant (intron variant)	Congenital long QT syndrome +8 more	GConflicting classifications of pathogenicity
Select item 227927	NM_000335.5(SCN5A):c.2103G>A (p.Pro701=)	SCN5A	Single nucleotide variant (synonymous variant)	SCN5A-related disorder +5 more	GBenign/Likely benign
Select item 178133	NM_000335.5(SCN5A):c.1890+14G>A	SCN5A	Single nucleotide variant (intron variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 201417	NM_000335.5(SCN5A):c.1842A>G (p.Pro614=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 67687	NM_000335.5(SCN5A):c.1756G>A (p.Ala586Thr)	SCN5A (A586T)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 67686	NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg)	SCN5A (G579R)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GConflicting classifications of pathogenicity
Select item 924828	NM_000335.5(SCN5A):c.1716C>T (p.Ala572=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 67683	NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)	SCN5A (A572D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +13 more	GBenign/Likely benign
Select item 48290	NM_000335.5(SCN5A):c.1681C>T (p.Leu561=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 48289	NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)	SCN5A (H558R)	Single nucleotide variant (missense variant)	not provided +13 more	GBenign/Likely benign
Select item 67676	NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys)	SCN5A (E555K)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +3 more	GUncertain significance
Select item 48287	NM_000335.5(SCN5A):c.1587T>C (p.Ile529=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +10 more	GBenign/Likely benign
Select item 165155	NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)	SCN5A	Single nucleotide variant (synonymous variant)	Sick sinus syndrome +10 more	GConflicting classifications of pathogenicity
Select item 1136351	NM_000335.5(SCN5A):c.1308G>A (p.Glu436=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 139049	NM_000335.5(SCN5A):c.1281C>T (p.Thr427=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 139047	NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 48280	NM_000335.5(SCN5A):c.1141-3C>A	SCN5A	Single nucleotide variant (intron variant)	Cardiovascular phenotype +10 more	GBenign/Likely benign
Select item 165156	NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)	SCN5A	Single nucleotide variant (synonymous variant)	Sick sinus syndrome +10 more	GConflicting classifications of pathogenicity
Select item 139045	NM_000335.5(SCN5A):c.1050C>T (p.His350=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 139044	NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 227057	NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=)	SCN5A	Single nucleotide variant (synonymous variant)	SCN5A-related disorder +4 more	GBenign
Select item 139043	NM_000335.5(SCN5A):c.1008G>A (p.Pro336=)	SCN5A	Single nucleotide variant (synonymous variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 48316	NM_000335.5(SCN5A):c.717C>T (p.Ile239=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 1284278	NM_000335.5(SCN5A):c.712A>G (p.Thr238Ala)	SCN5A (T238A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36767	NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)	SCN5A (S216L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +13 more	GConflicting classifications of pathogenicity
Select item 36766	NM_000335.5(SCN5A):c.630G>A (p.Val210=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 928327	NM_001099404.2(SCN5A):c.651T>C (p.Ala217=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 48301	NM_000335.5(SCN5A):c.354C>T (p.His118=)	SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +10 more	GBenign/Likely benign
Select item 463325	NM_000335.5(SCN5A):c.327C>T (p.Asn109=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 48318	NM_000335.5(SCN5A):c.87A>G (p.Ala29=)	SCN5A	Single nucleotide variant (synonymous variant)	not provided +10 more	GBenign/Likely benign

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Items: 67