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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSP
(R1458G)
Single nucleotide variant
(missense variant +1 more)
not provided
+9 more
GConflicting classifications of pathogenicity
PKP2
(V608fs +1 more)
Duplication
(frameshift variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+5 more
GPathogenic/Likely pathogenic
PKP2
(T50fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 9
+5 more
GPathogenic
DSC2
(A897fs)
Duplication
(3 prime UTR variant +1 more)
Arrhythmogenic right ventricular dysplasia 11
+6 more
GBenign/Likely benign
DSC2, DSCAS
(A23G)
Single nucleotide variant
(missense variant)
Familial isolated arrhythmogenic right ventricular dysplasia
GUncertain significance
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