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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC3A1
(A198fs)
Deletion
(frameshift variant)
Cystinuria
GPathogenic/Likely pathogenic
PREPL, SLC3A1
(G600E)
Single nucleotide variant
(missense variant +1 more)
Cystinuria
GUncertain significance