"OMIM"[submitter] AND "SUOX"[gene] - 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 992188	NM_001032386.2(SUOX):c.1084G>A (p.Gly362Ser)	SUOX (G362S)	Single nucleotide variant (missense variant)	Sulfocysteinuria +1 more	GConflicting classifications of pathogenicity
Select item 3823	NM_001032386.2(SUOX):c.1589G>A (p.Gly530Asp)	SUOX (G530D)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency	GPathogenic
Select item 3822	S370Y	SUOX	Single nucleotide variant	Sulfite oxidase deficiency	GPathogenic

ClinVar