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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(F2003L +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+12 more
GConflicting classifications of pathogenicity
SCN5A
(R1957Q +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
SCN5A
(R1957* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+10 more
GConflicting classifications of pathogenicity
SCN5A
(V1950L +5 more)
Single nucleotide variant
(missense variant)
not specified
+13 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+11 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+10 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN5A
(R1623* +5 more)
Single nucleotide variant
(nonsense)
SCN5A-Related Disorders
+13 more
GPathogenic
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+10 more
GConflicting classifications of pathogenicity
SCN5A
(L1308F +2 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+4 more
GBenign/Likely benign
SCN5A
(T1303M +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+10 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(intron variant)
not provided
+8 more
GBenign/Likely benign
LOC110121269, SCN5A
(S1103Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+15 more
GConflicting classifications of pathogenicity
LOC110121269, SCN5A
(A1087T +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+10 more
GConflicting classifications of pathogenicity
LOC110121269, SCN5A
(C982R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+12 more
GConflicting classifications of pathogenicity
SCN5A
(G833R)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+5 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
SCN5A
(P656L)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+10 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+4 more
GConflicting classifications of pathogenicity
SCN5A
(A572F)
Indel
(missense variant)
Cardiac arrhythmia
+4 more
GConflicting classifications of pathogenicity
SCN5A
(H558R)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+13 more
GBenign/Likely benign
SCN5A
(S524Y)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+13 more
GBenign/Likely benign
SCN5A
(R481W)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+10 more
GConflicting classifications of pathogenicity
SCN5A
(E462A)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+9 more
GUncertain significance
SCN5A
(L461V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+12 more
GBenign/Likely benign
SCN5A
Single nucleotide variant
(intron variant)
Cardiac arrhythmia
+10 more
GBenign/Likely benign
SCN5A
(V232I)
Single nucleotide variant
(missense variant +1 more)
Cardiac arrhythmia
+3 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+10 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+2 more
GBenign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+4 more
GConflicting classifications of pathogenicity
SCN5A
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
SCN5A
Single nucleotide variant
(synonymous variant)
Cardiac arrhythmia
+10 more
GBenign/Likely benign
SCN5A
(A22V)
Single nucleotide variant
(missense variant)
Long QT syndrome 3
+8 more
GUncertain significance
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