C2931746[trait identifier] AND "Women's Health and Genetics/Laboratory - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577290	NM_001032386.2(SUOX):c.51-2A>C	SUOX	Single nucleotide variant (splice acceptor variant)	Sulfocysteinuria	GLikely pathogenic
Select item 1383872	NM_001032386.2(SUOX):c.142_145dup (p.Asn49delinsArgTer)	SUOX	Duplication (nonsense)	Sulfite oxidase deficiency +1 more	GPathogenic
Select item 2501079	NM_001032386.2(SUOX):c.768C>A (p.Tyr256Ter)	SUOX (Y256*)	Single nucleotide variant (nonsense)	Sulfocysteinuria	GLikely pathogenic
Select item 618402	NM_001032386.2(SUOX):c.842_843del (p.Leu281fs)	SUOX (L281fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 992188	NM_001032386.2(SUOX):c.1084G>A (p.Gly362Ser)	SUOX (G362S)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1455728	NM_001032386.2(SUOX):c.1096C>T (p.Arg366Cys)	SUOX (R366C)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 986985	NM_001032386.2(SUOX):c.1097G>A (p.Arg366His)	SUOX (R366H)	Single nucleotide variant (missense variant)	Sulfocysteinuria +2 more	GPathogenic/Likely pathogenic
Select item 802865	NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr)	SUOX (D512Y)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency +1 more	GConflicting classifications of pathogenicity

ClinVar