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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASL
(Q116*)
Single nucleotide variant
(nonsense)
Argininosuccinate lyase deficiency
Gnot provided
ASL
(Q354* +2 more)
Single nucleotide variant
ASL-related condition
+2 more
GPathogenic
ASL
(R385C +2 more)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GPathogenic/Likely pathogenic
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