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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGXT
(G350D)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria, type I
+1 more
GPathogenic/Likely pathogenic
GRHPR
(R99*)
Single nucleotide variant
(nonsense)
Primary hyperoxaluria, type II
+2 more
GPathogenic