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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC3A1
(I445T)
Single nucleotide variant
(missense variant)
Cystinuria
GUncertain significance
SLC7A9
Single nucleotide variant
(splice acceptor variant)
Cystinuria
GLikely pathogenic