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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASS1
(V69A)
Single nucleotide variant
(missense variant)
Citrullinemia
+1 more
GConflicting classifications of pathogenicity
ASS1
(P96T)
Single nucleotide variant
(missense variant)
Citrullinemia type I
+1 more
GLikely pathogenic
ASS1
(E270Q)
Single nucleotide variant
(missense variant)
Citrullinemia type I
+1 more
GConflicting classifications of pathogenicity
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