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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(S1786N +5 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
DSP
(R1458G)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GConflicting classifications of pathogenicity
PKP2
(R811S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
PKP2
(T526M +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
PKP2
(R413*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
+5 more
GPathogenic
DSC2
(S824L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
DSC2
(L732V)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
DSC2
(T340A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 1
+5 more
GConflicting classifications of pathogenicity
DSC2
(R199C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
DSC2
(A164T)
Single nucleotide variant
(missense variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+3 more
GUncertain significance
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