"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 923480	NM_000335.5(SCN5A):c.3382G>A (p.Gly1128Ser)	LOC110121269, SCN5A (G1128S +1 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome +1 more	GConflicting classifications of pathogenicity
Select item 920658	NM_000335.5(SCN5A):c.3379T>A (p.Cys1127Ser)	LOC110121269, SCN5A (C1128S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 180515	NM_000335.5(SCN5A):c.3371C>G (p.Ala1124Gly)	LOC110121269, SCN5A (A1124G +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
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 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 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 67791	NM_000335.5(SCN5A):c.3335C>T (p.Ala1112Val)	LOC110121269, SCN5A (A1112V +1 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome +9 more	GUncertain significance
Select item 3075062	NM_000335.5(SCN5A):c.3332A>C (p.Gln1111Pro)	LOC110121269, SCN5A (Q1111P +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 3069602	NM_000335.5(SCN5A):c.3330T>C (p.Ser1110=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +2 more)	Cardiac arrhythmia	GLikely benign
Select item 3069554	NM_000335.5(SCN5A):c.3319G>A (p.Ala1107Thr)	LOC110121269, SCN5A (A1107T +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 67790	NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys)	LOC110121269, SCN5A (E1106K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 853230	NM_000335.5(SCN5A):c.3313G>T (p.Ala1105Ser)	LOC110121269, SCN5A (A1106S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 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)	not provided +10 more	GUncertain significance
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 3073025	NM_000335.5(SCN5A):c.3294A>C (p.Ser1098=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +2 more)	Cardiac arrhythmia	GLikely benign
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 3074416	NM_000335.5(SCN5A):c.3273del (p.Arg1092fs)	LOC110121269, SCN5A (R1092fs +1 more)	Deletion (frameshift variant +2 more)	Congenital long QT syndrome	GLikely pathogenic
Select item 809446	NM_000335.5(SCN5A):c.3267G>C (p.Pro1089=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 927458	NM_000335.5(SCN5A):c.3260C>T (p.Ala1087Val)	LOC110121269, SCN5A (A1087V +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 179524	NM_000335.5(SCN5A):c.3258G>A (p.Glu1086=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 3075328	NM_000335.5(SCN5A):c.3254C>A (p.Pro1085Gln)	LOC110121269, SCN5A (P1085Q +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiac arrhythmia	GUncertain significance
Select item 179231	NM_000335.5(SCN5A):c.3247G>C (p.Gly1083Arg)	LOC110121269, SCN5A (G1083R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 67786	NM_000335.5(SCN5A):c.3247G>A (p.Gly1083Ser)	LOC110121269, SCN5A (G1083S +1 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome +9 more	GUncertain significance
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 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 926232	NM_000335.5(SCN5A):c.3229-10T>C	LOC110121269, SCN5A	Single nucleotide variant (intron variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 927703	NM_000335.5(SCN5A):c.3229-18C>T	LOC110121269, SCN5A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 345120	NM_000335.5(SCN5A):c.3228+6C>G	LOC110121269, SCN5A	Single nucleotide variant (intron variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 3072324	NM_000335.5(SCN5A):c.3215A>C (p.Glu1072Ala)	LOC110121269, SCN5A (E1072A)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3071129	NM_000335.5(SCN5A):c.3215A>G (p.Glu1072Gly)	LOC110121269, SCN5A (E1072G)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	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 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 3069727	NM_000335.5(SCN5A):c.3204C>A (p.Gly1068=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
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 3072624	NM_000335.5(SCN5A):c.3196A>G (p.Ser1066Gly)	LOC110121269, SCN5A (S1066G)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3072178	NM_000335.5(SCN5A):c.3187G>C (p.Glu1063Gln)	LOC110121269, SCN5A (E1063Q)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 925426	NM_000335.5(SCN5A):c.3173A>C (p.Asp1058Ala)	LOC110121269, SCN5A (D1058A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1370104	NM_000335.5(SCN5A):c.3169G>A (p.Asp1057Asn)	LOC110121269, SCN5A (D1057N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 381330	NM_000335.5(SCN5A):c.3159G>A (p.Glu1053=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 705303	NM_000335.5(SCN5A):c.3156C>T (p.Ala1052=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 463321	NM_000335.5(SCN5A):c.3155C>A (p.Ala1052Asp)	LOC110121269, SCN5A (A1052D)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
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 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 1171678	NM_000335.5(SCN5A):c.3145A>G (p.Ile1049Val)	LOC110121269, SCN5A (I1049V)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 3071817	NM_000335.5(SCN5A):c.3133G>C (p.Val1045Leu)	LOC110121269, SCN5A (V1045L)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
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 3074622	NM_000335.5(SCN5A):c.3128A>T (p.Glu1043Val)	LOC110121269, SCN5A (E1043V)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3069875	NM_000335.5(SCN5A):c.3122A>G (p.Asp1041Gly)	LOC110121269, SCN5A (D1041G)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
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 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 1100643	NM_000335.5(SCN5A):c.3117C>G (p.Pro1039=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 67776	NM_000335.5(SCN5A):c.3098A>G (p.Gln1033Arg)	LOC110121269, SCN5A (Q1033R)	Single nucleotide variant (missense variant)	not provided +9 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 1332676	NM_000335.5(SCN5A):c.3087G>A (p.Glu1029=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia	GLikely benign
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 1171758	NM_000335.5(SCN5A):c.3081G>A (p.Arg1027=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 1384896	NM_000335.5(SCN5A):c.3072G>A (p.Lys1024=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3070005	NM_000335.5(SCN5A):c.3068G>T (p.Arg1023Leu)	LOC110121269, SCN5A (R1023L)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	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 574312	NM_000335.5(SCN5A):c.3067C>T (p.Arg1023Cys)	LOC110121269, SCN5A (R1023C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 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 1966715	NM_000335.5(SCN5A):c.3059C>T (p.Pro1020Leu)	LOC110121269, SCN5A (P1020L)	Single nucleotide variant (missense variant)	not provided +1 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 3071868	NM_000335.5(SCN5A):c.3056T>A (p.Val1019Glu)	LOC110121269, SCN5A (V1019E)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
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 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 3073870	NM_000335.5(SCN5A):c.3025T>G (p.Tyr1009Asp)	LOC110121269, SCN5A (Y1009D)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3075097	NM_000335.5(SCN5A):c.3020C>A (p.Thr1007Asn)	LOC110121269, SCN5A (T1007N)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	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 3072006	NM_000335.5(SCN5A):c.3013A>G (p.Ile1005Val)	LOC110121269, SCN5A (I1005V)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 3070755	NM_000335.5(SCN5A):c.3013A>T (p.Ile1005Phe)	LOC110121269, SCN5A (I1005F)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	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 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 3070960	NM_000335.5(SCN5A):c.3001C>G (p.Leu1001Val)	LOC110121269, SCN5A (L1001V)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
Select item 1124261	NM_000335.5(SCN5A):c.3000G>A (p.Gln1000=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 165149	NM_000335.5(SCN5A):c.2990C>A (p.Ala997Asp)	LOC110121269, SCN5A (A997D)	Single nucleotide variant (missense variant)	not specified +2 more	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 9388	NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)	LOC110121269, SCN5A (A997S)	Single nucleotide variant (missense variant)	not provided +9 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 3070301	NM_000335.5(SCN5A):c.2982C>A (p.Ala994=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia	GLikely benign
Select item 3071685	NM_000335.5(SCN5A):c.2977G>C (p.Ala993Pro)	LOC110121269, SCN5A (A993P)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	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 201551	NM_000335.5(SCN5A):c.2963G>A (p.Arg988Gln)	LOC110121269, SCN5A (R988Q)	Single nucleotide variant (missense variant)	Progressive familial heart block, type 1A +11 more	GUncertain significance
Select item 201486	NM_000335.5(SCN5A):c.2962C>T (p.Arg988Trp)	LOC110121269, SCN5A (R988W)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GUncertain significance
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 3073749	NM_000335.5(SCN5A):c.2951T>C (p.Leu984Pro)	LOC110121269, SCN5A (L984P)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia	GUncertain significance
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
Select item 391728	NM_000335.5(SCN5A):c.2931C>G (p.Thr977=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1555683	NM_000335.5(SCN5A):c.2925G>C (p.Arg975=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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