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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(F2003L +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+12 more
GConflicting classifications of pathogenicity
SCN5A
(V1950L +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+13 more
GBenign/Likely benign
SCN5A
(Q1831E +5 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
Ventricular fibrillation, paroxysmal familial, type 1
+9 more
GConflicting classifications of pathogenicity
SCN5A
(I1739del +5 more)
Microsatellite
(inframe_deletion)
Brugada syndrome
+2 more
GConflicting classifications of pathogenicity
SCN5A
(G1660R +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SCN5A
(P1278fs +2 more)
Deletion
(frameshift variant)
Brugada syndrome
+2 more
GPathogenic
SCN5A
Duplication
(splice donor variant)
Cardiac arrhythmia
+2 more
GLikely pathogenic
SCN5A
(F1292S +2 more)
Single nucleotide variant
(missense variant)
not provided
+13 more
GConflicting classifications of pathogenicity
SCN5A
(E1239Q +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+10 more
GConflicting classifications of pathogenicity
SCN5A
(R1193Q +2 more)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 10
+13 more
GBenign/Likely benign
LOC110121269, SCN5A
Single nucleotide variant
(synonymous variant +1 more)
not specified
+10 more
GConflicting classifications of pathogenicity
LOC110121269, SCN5A
(S1103Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrial fibrillation, familial, 10
+15 more
GConflicting classifications of pathogenicity
LOC110121269, SCN5A
(A997T)
Single nucleotide variant
(missense variant)
not provided
+10 more
GConflicting classifications of pathogenicity
LOC110121269, SCN5A
(Q990*)
Single nucleotide variant
(nonsense)
Brugada syndrome
GLikely pathogenic
SCN5A
(R893H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SCN5A
(H886P)
Single nucleotide variant
(missense variant)
Brugada syndrome
GLikely pathogenic
SCN5A
(L567Q)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+5 more
GUncertain significance
SCN5A
(R535*)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic
SCN5A
(S524Y)
Single nucleotide variant
(missense variant)
not specified
+13 more
GBenign/Likely benign
SCN5A
(R481W)
Single nucleotide variant
(missense variant)
not specified
+10 more
GConflicting classifications of pathogenicity
SCN5A
(S476fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SCN5A
(R367H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
SCN5A
(A226V)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
+8 more
GConflicting classifications of pathogenicity
SCN5A
(T220I)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
SCN5A
(R219H)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
+5 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
Progressive familial heart block, type 1A
+10 more
GConflicting classifications of pathogenicity
SCN10A
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
SCN10A
(V1714I +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
+4 more
GBenign
SCN10A
(G1611R +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+4 more
GUncertain significance
LOC110121288, SCN10A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
LOC110121288, SCN10A
(L1092P +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
SCN10A, LOC110121288
(V1073A +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+4 more
GBenign
SCN10A, LOC110121288
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
LOC110121288, SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
+4 more
GBenign
LOC110121288, SCN10A
(I962V +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+4 more
GBenign/Likely benign
SCN10A
(R512G)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GBenign
SCN10A
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
CACNA2D1
(D1045A +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
MYBPC3
(Y1136del)
Microsatellite
(inframe_deletion)
Brugada syndrome
+8 more
GConflicting classifications of pathogenicity
MYBPC3
(P910T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
CACNA1C
(G490R +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(C1992F +13 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
PKP2
(T526M +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
MYH6
(Q277H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 14
+9 more
GConflicting classifications of pathogenicity
TCAP
(E105Q)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
TTR
(R124C)
Single nucleotide variant
(missense variant)
Conduction disorder of the heart
+9 more
GUncertain significance
SCN1B
(V142L +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
KCNE1
(D76N)
Single nucleotide variant
(missense variant)
Long QT syndrome 5
+5 more
GPathogenic/Likely pathogenic
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