"Revvity Omics, Revvity"[submitter] AND "XDH"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438617	NM_000379.4(XDH):c.1988G>A (p.Cys663Tyr)	XDH (C663Y)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
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

ClinVar