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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRPPRC
(G434D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LRPPRC
(A3S)
Single nucleotide variant
(missense variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
+2 more
GConflicting classifications of pathogenicity