C0268624[trait identifier] AND "GeneReviews"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619592	NM_001032386.2(SUOX):c.520del (p.Asp174fs)	SUOX (D174fs)	Deletion (frameshift variant)	Sulfite oxidase deficiency	GLikely pathogenic
Select item 3820	NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln)	SUOX (R217Q)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GLikely pathogenic
Select item 3821	NM_001032386.2(SUOX):c.794C>A (p.Ala265Asp)	SUOX (A265D)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 619593	NM_001032386.2(SUOX):c.1200C>G (p.Tyr400Ter)	SUOX (Y400*)	Single nucleotide variant (nonsense)	Sulfite oxidase deficiency	GPathogenic
Select item 623470	NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr)	SUOX (S427Y)	Indel (missense variant)	Sulfite oxidase deficiency	GUncertain significance
Select item 3823	NM_001032386.2(SUOX):c.1589G>A (p.Gly530Asp)	SUOX (G530D)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GPathogenic

ClinVar