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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC110121269, SCN5A
(A997T)
Single nucleotide variant
(missense variant)
Sick sinus syndrome 1
+10 more
GUncertain significance
SCN5A
(G538fs)
Deletion
(frameshift variant)
Sick sinus syndrome 1
+1 more
GPathogenic/Likely pathogenic
SCN5A
(G298S)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+14 more
GUncertain significance
SCN5A
(S216L)
Single nucleotide variant
(missense variant +1 more)
Ventricular fibrillation, paroxysmal familial, type 1
+13 more
GConflicting classifications of pathogenicity
SCN5A
(R219*)
Single nucleotide variant
(nonsense +1 more)
Cardiac arrhythmia
+3 more
GConflicting classifications of pathogenicity
SCN5A
(R190W)
Single nucleotide variant
(missense variant)
Brugada syndrome 1
+4 more
GUncertain significance
DSP
(S843*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
+5 more
GPathogenic
KCNH2
(G584A +1 more)
Single nucleotide variant
(missense variant)
Short QT syndrome type 1
+4 more
GConflicting classifications of pathogenicity
KCNH2
(A561V +4 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
KCNH2
(V125A +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
COL5A1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GUncertain significance
KCNQ1
(A178T +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GPathogenic/Likely pathogenic
KCNQ1
(E323G +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+7 more
GUncertain significance
KCNA5
(V452I)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
+1 more
GUncertain significance
MYH7
(N408K)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+1 more
GUncertain significance
CAPN3
(T184fs)
Deletion
(frameshift variant)
Muscular dystrophy, limb-girdle, autosomal dominant 4
+24 more
GPathogenic
CAPN3
(G393fs +1 more)
Deletion
(frameshift variant)
not provided
+8 more
GPathogenic
DTNA
(I59M)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 1
+2 more
GConflicting classifications of pathogenicity
KCNE2, LOC105372791
(I57T)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
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