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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130062340, DSG2
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
DSG2
(Y198C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+5 more
GUncertain significance
DSG2
(V271fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DSG2
(R292C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DSG2
(T335A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
DSG2, DSG2-AS1
(G759R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DSG2, DSG2-AS1
(M946V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 10
GUncertain significance
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