"Rady Children's Institute for Genomic Medicine, Rady Children's Hospi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 692068	NM_001358530.2(MOCS1):c.1150+20G>A	MOCS1	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GConflicting classifications of pathogenicity
Select item 692063	NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp)	MOCS1 (G126D +1 more)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A +1 more	GLikely pathogenic