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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPA2
(E172K)
Single nucleotide variant
(missense variant +1 more)
Sudden cardiac failure, infantile
+2 more
GPathogenic/Likely pathogenic
PPA2
(R127L)
Single nucleotide variant
(missense variant +1 more)
Sudden cardiac failure, infantile
+2 more
GConflicting classifications of pathogenicity