"Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550586	NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)	ASS1 (R127L)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 993037	NM_054012.4(ASS1):c.479T>C (p.Leu160Pro)	ASS1 (L160P)	Single nucleotide variant (missense variant)	Citrullinemia	GLikely pathogenic