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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC110121269, SCN5A
(R1115W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+11 more
GUncertain significance
LOC110121269, SCN5A
(A1112V +1 more)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome
+9 more
GUncertain significance
LOC110121269, SCN5A
(S1102F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+10 more
GUncertain significance
LOC110121269, SCN5A
(S1103Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital long QT syndrome
+15 more
GConflicting classifications of pathogenicity
LOC110121269, SCN5A
(A1102T +1 more)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 1
+9 more
GConflicting classifications of pathogenicity
LOC110121269, SCN5A
(A1099V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+10 more
GConflicting classifications of pathogenicity
LOC110121269, SCN5A
(P1089L +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+13 more
GBenign/Likely benign
LOC110121269, SCN5A
(G1083S +1 more)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome
+9 more
GUncertain significance
LOC110121269, SCN5A
(S1078F +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
+9 more
GUncertain significance
LOC110121269, SCN5A
(S1078T +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
+10 more
GUncertain significance
LOC110121269, SCN5A
(E1072S)
Inversion
(missense variant)
Cardiovascular phenotype
+10 more
GUncertain significance
LOC110121269, SCN5A
(A1050T)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+10 more
GConflicting classifications of pathogenicity
LOC110121269, SCN5A
(G1040R)
Single nucleotide variant
(missense variant)
not provided
+10 more
GConflicting classifications of pathogenicity
LOC110121269, SCN5A
(Q1033R)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
LOC110121269, SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+11 more
GUncertain significance
LOC110121269, SCN5A
(R1027Q)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+11 more
GConflicting classifications of pathogenicity
LOC110121269, SCN5A
(R1027W)
Single nucleotide variant
(missense variant)
Brugada syndrome
+10 more
GUncertain significance
LOC110121269, SCN5A
(R1023P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+10 more
GUncertain significance
LOC110121269, SCN5A
(A997S)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
LOC110121269, SCN5A
(R988Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+11 more
GUncertain significance
LOC110121269, SCN5A
(R988W)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+9 more
GUncertain significance
LOC110121269, SCN5A
(R975Q)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+10 more
GUncertain significance
LOC110121269, SCN5A
(R975W)
Single nucleotide variant
(missense variant)
not provided
+10 more
GUncertain significance
LOC110121269, SCN5A
(R965L)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+9 more
GUncertain significance
LOC110121269, SCN5A
(Q960K)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
LOC110121269, SCN5A
(L939F)
Single nucleotide variant
(missense variant)
Brugada syndrome
+14 more
GUncertain significance
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