"Ambry Genetics"[submitter] AND "LOC110121269"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1479612	NM_000335.5(SCN5A):c.3387+5T>C	LOC110121269, SCN5A	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 3229489	NM_000335.5(SCN5A):c.3382G>T (p.Gly1128Cys)	LOC110121269, SCN5A (G1128C +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 345119	NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 165143	NM_000335.5(SCN5A):c.3375A>G (p.Pro1125=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1172406	NM_000335.5(SCN5A):c.3365C>T (p.Pro1122Leu)	LOC110121269, SCN5A (P1122L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 48300	NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant +11 more	GConflicting classifications of pathogenicity
Select item 658312	NM_000335.5(SCN5A):c.3359C>T (p.Ala1120Val)	LOC110121269, SCN5A (A1121V +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 48299	NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln)	LOC110121269, SCN5A (R1115Q +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 67793	NM_000335.5(SCN5A):c.3343C>T (p.Arg1115Trp)	LOC110121269, SCN5A (R1115W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +11 more	GUncertain significance
Select item 1730458	NM_000335.5(SCN5A):c.3342G>A (p.Trp1114Ter)	LOC110121269, SCN5A (W1114* +1 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype	GPathogenic
Select item 1730430	NM_000335.5(SCN5A):c.3339C>A (p.Asp1113Glu)	LOC110121269, SCN5A (D1113E +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 67792	NM_000335.5(SCN5A):c.3337G>A (p.Asp1113Asn)	LOC110121269, SCN5A (D1113N +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 669496	NM_000335.5(SCN5A):c.3336C>T (p.Ala1112=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +2 more	GLikely benign
Select item 264627	NM_000335.5(SCN5A):c.3315C>T (p.Ala1105=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Ventricular fibrillation, paroxysmal familial, type 1 +8 more	GConflicting classifications of pathogenicity
Select item 9393	NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)	LOC110121269, SCN5A (S1103Y +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital long QT syndrome +15 more	GConflicting classifications of pathogenicity
Select item 532068	NM_000335.5(SCN5A):c.3301G>A (p.Ala1101Thr)	LOC110121269, SCN5A (A1102T +1 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 629666	NM_000335.5(SCN5A):c.3297G>A (p.Ala1099=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 67789	NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val)	LOC110121269, SCN5A (A1099V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 519205	NM_000335.5(SCN5A):c.3289G>A (p.Val1097Met)	LOC110121269, SCN5A (V1097M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 67788	NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu)	LOC110121269, SCN5A (V1097L +1 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome +10 more	GConflicting classifications of pathogenicity
Select item 519269	NM_000335.5(SCN5A):c.3282G>C (p.Trp1094Cys)	LOC110121269, SCN5A (W1094C +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 432236	NM_000335.5(SCN5A):c.3282G>T (p.Trp1094Cys)	LOC110121269, SCN5A (W1094C +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 406434	NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter)	LOC110121269, SCN5A (W1094* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1729777	NM_000335.5(SCN5A):c.3281G>A (p.Trp1094Ter)	LOC110121269, SCN5A (W1095* +1 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype	GPathogenic
Select item 463324	NM_000335.5(SCN5A):c.3267G>A (p.Pro1089=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +2 more	GLikely benign
Select item 48298	NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)	LOC110121269, SCN5A (P1089L +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +13 more	GBenign/Likely benign
Select item 518822	NM_000335.5(SCN5A):c.3265C>A (p.Pro1089Thr)	LOC110121269, SCN5A (P1089T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 519464	NM_000335.5(SCN5A):c.3259del (p.Ala1087fs)	LOC110121269, SCN5A (A1087fs +1 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 178130	NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr)	LOC110121269, SCN5A (A1087T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 1041120	NM_000335.5(SCN5A):c.3254C>T (p.Pro1085Leu)	LOC110121269, SCN5A (P1085L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1107871	NM_000335.5(SCN5A):c.3246C>G (p.Ser1082=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +2 more	GLikely benign
Select item 178131	NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 463323	NM_000335.5(SCN5A):c.3243G>A (p.Val1081=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1210983	NM_000335.5(SCN5A):c.3240T>C (p.Pro1080=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2587161	NM_000335.5(SCN5A):c.3235C>G (p.Gln1079Glu)	LOC110121269, SCN5A (Q1079E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 201491	NM_000335.5(SCN5A):c.3232T>A (p.Ser1078Thr)	LOC110121269, SCN5A (S1078T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia +10 more	GUncertain significance
Select item 519440	NM_000335.5(SCN5A):c.3225G>T (p.Lys1075Asn)	LOC110121269, SCN5A (K1075N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3316595	NM_000335.5(SCN5A):c.3193_3216del (p.Asn1065_Glu1072del)	LOC110121269, SCN5A	Deletion (inframe_deletion +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 532071	NM_000335.5(SCN5A):c.3208GAG[2] (p.Glu1072del)	LOC110121269, SCN5A (E1072del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +3 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 1728944	NM_000335.5(SCN5A):c.3211G>A (p.Glu1071Lys)	LOC110121269, SCN5A (E1071K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1728933	NM_000335.5(SCN5A):c.3210G>A (p.Glu1070=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 178132	NM_000335.5(SCN5A):c.3207G>A (p.Thr1069=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 67782	NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met)	LOC110121269, SCN5A (T1069M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 463322	NM_000335.5(SCN5A):c.3204C>T (p.Gly1068=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 742677	NM_000335.5(SCN5A):c.3198C>T (p.Ser1066=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 264329	NM_000335.5(SCN5A):c.3192G>A (p.Glu1064=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 201565	NM_000335.5(SCN5A):c.3187GAG[1] (p.Glu1064del)	LOC110121269, SCN5A (E1064del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 48297	NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 1 +10 more	GBenign/Likely benign
Select item 413939	NM_000335.5(SCN5A):c.3168A>C (p.Thr1056=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 9400	NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)	LOC110121269, SCN5A (E1053K)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +5 more	GConflicting classifications of pathogenicity
Select item 201564	NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs)	LOC110121269, SCN5A (P1048fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic
Select item 699240	NM_000335.5(SCN5A):c.3147C>T (p.Ile1049=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 463320	NM_000335.5(SCN5A):c.3133G>A (p.Val1045Met)	LOC110121269, SCN5A (V1045M)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GUncertain significance
Select item 413937	NM_000335.5(SCN5A):c.3132C>T (p.Pro1044=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 201583	NM_000335.5(SCN5A):c.3121G>A (p.Asp1041Asn)	LOC110121269, SCN5A (D1041N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2567172	NM_000335.5(SCN5A):c.3120G>C (p.Gly1040=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 67779	NM_000335.5(SCN5A):c.3118G>A (p.Gly1040Arg)	LOC110121269, SCN5A (G1040R)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 657420	NM_000335.5(SCN5A):c.3111C>T (p.Gly1037=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 381372	NM_000335.5(SCN5A):c.3111C>A (p.Gly1037=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1727719	NM_000335.5(SCN5A):c.3109G>A (p.Gly1037Ser)	LOC110121269, SCN5A (G1037S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1727674	NM_000335.5(SCN5A):c.3104G>A (p.Gly1035Asp)	LOC110121269, SCN5A (G1035D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 201489	NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +11 more	GUncertain significance
Select item 424500	NM_000335.5(SCN5A):c.3085G>A (p.Glu1029Lys)	LOC110121269, SCN5A (E1029K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 520458	NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln)	LOC110121269, SCN5A (R1027Q)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +11 more	GConflicting classifications of pathogenicity
Select item 579030	NM_000335.5(SCN5A):c.3079C>T (p.Arg1027Trp)	LOC110121269, SCN5A (R1027W)	Single nucleotide variant (missense variant)	Brugada syndrome +10 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 67775	NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)	LOC110121269, SCN5A (R1023H)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 574312	NM_000335.5(SCN5A):c.3067C>T (p.Arg1023Cys)	LOC110121269, SCN5A (R1023C)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GUncertain significance
Select item 201484	NM_000335.5(SCN5A):c.3061C>T (p.Pro1021Ser)	LOC110121269, SCN5A (P1021S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 532163	NM_000335.5(SCN5A):c.3057G>A (p.Val1019=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Brugada syndrome +4 more	GLikely benign
Select item 1158361	NM_000335.5(SCN5A):c.3054G>A (p.Lys1018=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 201420	NM_000335.5(SCN5A):c.3048G>A (p.Thr1016=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +3 more	GBenign/Likely benign
Select item 67774	NM_000335.5(SCN5A):c.3047C>T (p.Thr1016Met)	LOC110121269, SCN5A (T1016M)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +10 more	GConflicting classifications of pathogenicity
Select item 1799086	NM_000335.5(SCN5A):c.3036A>T (p.Pro1012=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 670438	NM_000335.5(SCN5A):c.3033G>C (p.Pro1011=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 378543	NM_000335.5(SCN5A):c.3033G>A (p.Pro1011=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 403421	NM_000335.5(SCN5A):c.3032C>T (p.Pro1011Leu)	LOC110121269, SCN5A (P1011L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1798932	NM_000335.5(SCN5A):c.3022C>G (p.Pro1008Ala)	LOC110121269, SCN5A (P1008A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 665520	NM_000335.5(SCN5A):c.3020C>T (p.Thr1007Ile)	LOC110121269, SCN5A (T1007I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1549347	NM_000335.5(SCN5A):c.3012C>T (p.Cys1004=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 67772	NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)	LOC110121269, SCN5A (C1004R)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 532144	NM_000335.5(SCN5A):c.3006C>G (p.Pro1002=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1017857	NM_000335.5(SCN5A):c.3004C>T (p.Pro1002Ser)	LOC110121269, SCN5A (P1002S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 532139	NM_000335.5(SCN5A):c.3003G>C (p.Leu1001=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 229233	NM_000335.5(SCN5A):c.2999_3001del (p.Gln1000del)	LOC110121269, SCN5A (Q1000del)	Deletion (inframe_deletion)	not provided +3 more	GUncertain significance
Select item 1798592	NM_000335.5(SCN5A):c.2998C>T (p.Gln1000Ter)	LOC110121269, SCN5A (Q1000*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 1798578	NM_000335.5(SCN5A):c.2996G>A (p.Gly999Asp)	LOC110121269, SCN5A (G999D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 67771	NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)	LOC110121269, SCN5A (A997T)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +10 more	GConflicting classifications of pathogenicity
Select item 345121	NM_000335.5(SCN5A):c.2988C>T (p.Ala996=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 1011351	NM_000335.5(SCN5A):c.2987C>A (p.Ala996Asp)	LOC110121269, SCN5A (A996D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 463317	NM_000335.5(SCN5A):c.2977G>A (p.Ala993Thr)	LOC110121269, SCN5A (A993T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 36759	NM_000335.5(SCN5A):c.2976C>T (p.Pro992=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 920203	NM_000335.5(SCN5A):c.2970G>A (p.Gln990=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 201551	NM_000335.5(SCN5A):c.2963G>A (p.Arg988Gln)	LOC110121269, SCN5A (R988Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +11 more	GUncertain significance
Select item 67770	NM_000335.5(SCN5A):c.2957G>A (p.Arg986Gln)	LOC110121269, SCN5A (R986Q)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 201485	NM_000335.5(SCN5A):c.2956C>T (p.Arg986Trp)	LOC110121269, SCN5A (R986W)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 1544472	NM_000335.5(SCN5A):c.2953C>T (p.Leu985=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1798069	NM_000335.5(SCN5A):c.2952C>T (p.Leu984=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 919274	NM_000335.5(SCN5A):c.2948G>A (p.Gly983Asp)	LOC110121269, SCN5A (G983D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance

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