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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(R1943* +5 more)
Single nucleotide variant
(nonsense)
SCN5A-related disorder
+4 more
GConflicting classifications of pathogenicity
SCN5A
(S1710L +5 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+11 more
GPathogenic/Likely pathogenic
SCN5A
(R1644H +5 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+6 more
GPathogenic
SCN5A
(R1512W +4 more)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+4 more
GConflicting classifications of pathogenicity
SCN5A
(K1423T +4 more)
Single nucleotide variant
(missense variant +1 more)
SCN5A-related disorder
+1 more
GConflicting classifications of pathogenicity
SCN5A
(Q646fs)
Deletion
(frameshift variant)
Brugada syndrome 1
+3 more
GPathogenic
SCN5A
(N406K)
Single nucleotide variant
(missense variant)
SCN5A-related disorder
+1 more
GPathogenic/Likely pathogenic
SCN5A
Single nucleotide variant
(splice donor variant)
Brugada syndrome (shorter-than-normal QT interval)
+3 more
GPathogenic/Likely pathogenic
SCN5A
(E302*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+2 more
GPathogenic
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