"Genome-Nilou Lab"[submitter] AND "XDH"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 335754	NM_000379.4(XDH):c.*41G>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1 +1 more	GBenign
Select item 897349	NM_000379.4(XDH):c.3951+14C>G	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II +1 more	GBenign/Likely benign
Select item 335755	NM_000379.4(XDH):c.3937A>G (p.Lys1313Glu)	XDH (K1313E)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GBenign/Likely benign
Select item 898500	NM_000379.4(XDH):c.3886C>T (p.Arg1296Trp)	XDH (R1296W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 898502	NM_000379.4(XDH):c.3771G>A (p.Ser1257=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +1 more	GBenign/Likely benign
Select item 255970	NM_000379.4(XDH):c.3717G>A (p.Glu1239=)	XDH	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 896913	NM_000379.4(XDH):c.3405-15T>C	XDH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 896915	NM_000379.4(XDH):c.3326A>C (p.Asn1109Thr)	XDH (N1109T)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GBenign
Select item 191300	NM_000379.4(XDH):c.3276+12A>G	XDH	Single nucleotide variant (intron variant)	Hereditary xanthinuria type 1 +3 more	GBenign/Likely benign
Select item 335762	NM_000379.4(XDH):c.3271G>C (p.Val1091Leu)	XDH (V1091L)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GBenign/Likely benign
Select item 335765	NM_000379.4(XDH):c.3084C>T (p.Gly1028=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +2 more	GBenign/Likely benign
Select item 255969	NM_000379.4(XDH):c.3052-12C>G	XDH	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 255968	NM_000379.4(XDH):c.3030T>C (p.Phe1010=)	XDH	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 801659	NM_000379.4(XDH):c.2969+66dup	XDH	Duplication (intron variant)	Xanthinuria type II +2 more	GBenign
Select item 1246375	NM_000379.4(XDH):c.2544+35A>T	XDH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 255967	NM_000379.4(XDH):c.2211C>T (p.Ile737=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +3 more	GBenign
Select item 255966	NM_000379.4(XDH):c.2107A>G (p.Ile703Val)	XDH (I703V)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +3 more	GBenign/Likely benign
Select item 1168505	NM_000379.4(XDH):c.2100+19_2100+22del	XDH	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 790816	NM_000379.4(XDH):c.2013G>A (p.Val671=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +1 more	GBenign
Select item 335776	NM_000379.4(XDH):c.1990G>A (p.Val664Ile)	XDH (V664I)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GBenign
Select item 335777	NM_000379.4(XDH):c.1936A>G (p.Ile646Val)	XDH (I646V)	Single nucleotide variant (missense variant)	Xanthinuria type II +2 more	GBenign/Likely benign
Select item 718983	NM_000379.4(XDH):c.1885G>A (p.Val629Ile)	XDH (V629I)	Single nucleotide variant (missense variant)	Xanthinuria type II +2 more	GBenign/Likely benign
Select item 335779	NM_000379.4(XDH):c.1857-4G>A	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II +2 more	GBenign/Likely benign
Select item 335782	NM_000379.4(XDH):c.1751A>C (p.Asp584Ala)	XDH (D584A)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GBenign/Likely benign
Select item 335785	NM_000379.4(XDH):c.1686+8C>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II +2 more	GBenign/Likely benign
Select item 335786	NM_000379.4(XDH):c.1629C>T (p.Phe543=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +2 more	GBenign/Likely benign
Select item 335787	NM_000379.4(XDH):c.1509C>G (p.Gly503=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +2 more	GBenign
Select item 897063	NM_000379.4(XDH):c.1427+15C>A	XDH	Single nucleotide variant (intron variant)	Hereditary xanthinuria type 1 +1 more	GBenign
Select item 897064	NM_000379.4(XDH):c.1329G>A (p.Lys443=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +2 more	GBenign/Likely benign
Select item 1249715	NM_000379.4(XDH):c.1243-43A>G	XDH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 335791	NM_000379.4(XDH):c.1184A>T (p.Lys395Met)	XDH (K395M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 335792	NM_000379.4(XDH):c.1134C>T (p.Gly378=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +2 more	GBenign/Likely benign
Select item 335793	NM_000379.4(XDH):c.837C>T (p.Val279=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +2 more	GBenign/Likely benign
Select item 895718	NM_000379.4(XDH):c.636T>C (p.Phe212=)	XDH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 335795	NM_000379.4(XDH):c.627G>A (p.Glu209=)	XDH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 335799	NM_000379.4(XDH):c.514G>A (p.Gly172Arg)	XDH (G172R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 715376	NM_000379.4(XDH):c.397G>A (p.Glu133Lys)	XDH (E133K)	Single nucleotide variant (missense variant)	Xanthinuria type II +2 more	GBenign/Likely benign

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Items: 37