C1863688[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 505602	NM_000379.4(XDH):c.1686+1G>C	XDH	Single nucleotide variant (splice donor variant)	Xanthinuria type II +2 more	GConflicting classifications of pathogenicity
Select item 800266	NM_000379.4(XDH):c.1037C>T (p.Ala346Val)	XDH (A346V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2415430	NM_000379.4(XDH):c.751C>T (p.Gln251Ter)	XDH (Q251*)	Single nucleotide variant (nonsense)	Hereditary xanthinuria type 1 +1 more	GPathogenic/Likely pathogenic
Select item 895715	NM_000379.4(XDH):c.670C>T (p.Arg224Trp)	XDH (R224W)	Single nucleotide variant (missense variant)	XDH-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 641114	NM_000379.4(XDH):c.140dup (p.Cys48fs)	XDH (C48fs)	Duplication (frameshift variant)	Xanthinuria type II +1 more	GPathogenic
Select item 2433778	NM_017947.4(MOCOS):c.296A>G (p.Tyr99Cys)	MOCOS (Y99C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2433777	NM_017947.4(MOCOS):c.929C>T (p.Ser310Leu)	MOCOS (S310L)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2433776	NM_017947.4(MOCOS):c.1106C>A (p.Ala369Asp)	MOCOS (A369D)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance

ClinVar