"Fulgent Genetics, Fulgent Genetics"[submitter] AND "XDH"[gene] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 897348	NM_000379.4(XDH):c.3953G>A (p.Cys1318Tyr)	XDH (C1318Y)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 964201	NM_000379.4(XDH):c.3887G>A (p.Arg1296Gln)	XDH (R1296Q)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +2 more	GConflicting classifications of pathogenicity
Select item 858637	NM_000379.4(XDH):c.3871G>A (p.Val1291Met)	XDH (V1291M)	Single nucleotide variant (missense variant)	Xanthinuria type II +2 more	GUncertain significance
Select item 765186	NM_000379.4(XDH):c.3789G>A (p.Pro1263=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +1 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 572582	NM_000379.4(XDH):c.3736C>T (p.Arg1246Cys)	XDH (R1246C)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +2 more	GUncertain significance
Select item 898503	NM_000379.4(XDH):c.3712A>T (p.Ile1238Phe)	XDH (I1238F)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 335759	NM_000379.4(XDH):c.3665C>T (p.Thr1222Ile)	XDH (T1222I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 960670	NM_000379.4(XDH):c.3649G>A (p.Glu1217Lys)	XDH (E1217K)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 1674093	NM_000379.4(XDH):c.3519+13C>G	XDH	Single nucleotide variant (intron variant)	Hereditary xanthinuria type 1 +1 more	GLikely benign
Select item 576949	NM_000379.4(XDH):c.3488T>C (p.Val1163Ala)	XDH (V1163A)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
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 896914	NM_000379.4(XDH):c.3354C>G (p.Val1118=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1	GUncertain significance
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 1415258	NM_000379.4(XDH):c.3263G>A (p.Gly1088Glu)	XDH (G1088E)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 642139	NM_000379.4(XDH):c.3260A>G (p.Asn1087Ser)	XDH (N1087S)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 971629	NM_000379.4(XDH):c.3210C>G (p.Asn1070Lys)	XDH (N1070K)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 1003257	NM_000379.4(XDH):c.3206C>G (p.Thr1069Ser)	XDH (T1069S)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 1400312	NM_000379.4(XDH):c.3163C>G (p.Leu1055Val)	XDH (L1055V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 897414	NM_000379.4(XDH):c.3154A>G (p.Ser1052Gly)	XDH (S1052G)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
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 335766	NM_000379.4(XDH):c.3059C>T (p.Ala1020Val)	XDH (A1020V)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 1459919	NM_000379.4(XDH):c.2969+8C>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II +1 more	GLikely benign
Select item 335768	NM_000379.4(XDH):c.2911G>A (p.Glu971Lys)	XDH (E971K)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 1408334	NM_000379.4(XDH):c.2858T>G (p.Leu953Arg)	XDH (L953R)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 898581	NM_000379.4(XDH):c.2828G>A (p.Arg943Gln)	XDH (R943Q)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 1472312	NM_000379.4(XDH):c.2773G>A (p.Glu925Lys)	XDH (E925K)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 1603862	NM_000379.4(XDH):c.2631+20G>A	XDH	Single nucleotide variant (intron variant)	Hereditary xanthinuria type 1 +1 more	GLikely benign
Select item 1478077	NM_000379.4(XDH):c.2540A>G (p.Tyr847Cys)	XDH (Y847C)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 745942	NM_000379.4(XDH):c.2460C>T (p.Thr820=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +2 more	GLikely benign
Select item 1039426	NM_000379.4(XDH):c.2359C>T (p.Arg787Trp)	XDH (R787W)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 896994	NM_000379.4(XDH):c.2344G>A (p.Gly782Arg)	XDH (G782R)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 896996	NM_000379.4(XDH):c.2299A>G (p.Thr767Ala)	XDH (T767A)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 579351	NM_000379.4(XDH):c.2274del (p.Glu760fs)	XDH (E760fs)	Deletion (frameshift variant)	Hereditary xanthinuria type 1 +1 more	GPathogenic
Select item 640681	NM_000379.4(XDH):c.2252T>C (p.Ile751Thr)	XDH (I751T)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 1179049	NM_000379.4(XDH):c.2198-2A>C	XDH	Single nucleotide variant (splice acceptor variant)	Hereditary xanthinuria type 1	GLikely pathogenic
Select item 1412600	NM_000379.4(XDH):c.2187TGT[1] (p.Val731del)	XDH (V731del)	Microsatellite (inframe_deletion)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 1369362	NM_000379.4(XDH):c.2164A>T (p.Lys722Ter)	XDH (K722*)	Single nucleotide variant (nonsense)	Hereditary xanthinuria type 1 +1 more	GPathogenic
Select item 951378	NM_000379.4(XDH):c.2102A>T (p.Asp701Val)	XDH (D701V)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +2 more	GUncertain significance
Select item 943869	NM_000379.4(XDH):c.2027C>T (p.Pro676Leu)	XDH (P676L)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 1500693	NM_000379.4(XDH):c.1970C>T (p.Ala657Val)	XDH (A657V)	Single nucleotide variant (missense variant)	Xanthinuria type II +2 more	GUncertain significance
Select item 1372365	NM_000379.4(XDH):c.1912G>A (p.Ala638Thr)	XDH (A638T)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 1608824	NM_000379.4(XDH):c.1911C>T (p.Ser637=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +1 more	GBenign/Likely benign
Select item 851652	NM_000379.4(XDH):c.1896T>G (p.Phe632Leu)	XDH (F632L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 955843	NM_000379.4(XDH):c.1819C>T (p.Arg607Trp)	XDH (R607W)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 1367709	NM_000379.4(XDH):c.1796G>A (p.Arg599His)	XDH (R599H)	Single nucleotide variant (missense variant)	Xanthinuria type II +3 more	GUncertain significance
Select item 775709	NM_000379.4(XDH):c.1785C>T (p.Asp595=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +1 more	GLikely benign
Select item 1553948	NM_000379.4(XDH):c.1773C>T (p.Ala591=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +1 more	GLikely benign
Select item 1147898	NM_000379.4(XDH):c.1647G>T (p.Leu549=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +1 more	GLikely benign
Select item 715416	NM_000379.4(XDH):c.1617G>T (p.Leu539=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +1 more	GBenign/Likely benign
Select item 566280	NM_000379.4(XDH):c.1602+1G>A	XDH	Single nucleotide variant (splice donor variant)	Hereditary xanthinuria type 1 +1 more	GLikely pathogenic
Select item 74588	NM_000379.4(XDH):c.1597G>A (p.Glu533Lys)	XDH (E533K)	Single nucleotide variant (missense variant)	Xanthinuria type II +3 more	GUncertain significance
Select item 1572519	NM_000379.4(XDH):c.1581G>A (p.Leu527=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +1 more	GLikely benign
Select item 1497216	NM_000379.4(XDH):c.1522C>T (p.Arg508Trp)	XDH (R508W)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 1472750	NM_000379.4(XDH):c.1510A>G (p.Met504Val)	XDH (M504V)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 897061	NM_000379.4(XDH):c.1495G>A (p.Asp499Asn)	XDH (D499N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 897062	NM_000379.4(XDH):c.1480C>A (p.Leu494Met)	XDH (L494M)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
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 897065	NM_000379.4(XDH):c.1319T>A (p.Val440Asp)	XDH (V440D)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 941422	NM_000379.4(XDH):c.1210C>A (p.Leu404Met)	XDH (L404M)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 954486	NM_000379.4(XDH):c.1038G>A (p.Ala346=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 849563	NM_000379.4(XDH):c.977T>G (p.Val326Gly)	XDH (V326G)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 715272	NM_000379.4(XDH):c.883G>A (p.Asp295Asn)	XDH (D295N)	Single nucleotide variant (missense variant)	Xanthinuria type II +2 more	GConflicting classifications of pathogenicity
Select item 738546	NM_000379.4(XDH):c.867G>A (p.Ser289=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +1 more	GLikely benign
Select item 1409406	NM_000379.4(XDH):c.826C>T (p.Pro276Ser)	XDH (P276S)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 1126308	NM_000379.4(XDH):c.816T>C (p.Asn272=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +1 more	GLikely benign
Select item 1583868	NM_000379.4(XDH):c.793+19G>A	XDH	Single nucleotide variant (intron variant)	Hereditary xanthinuria type 1 +1 more	GBenign/Likely benign
Select item 1637501	NM_000379.4(XDH):c.786G>A (p.Thr262=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +1 more	GLikely benign
Select item 1038083	NM_000379.4(XDH):c.775G>A (p.Val259Met)	XDH (V259M)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 1025638	NM_000379.4(XDH):c.704C>T (p.Thr235Met)	XDH (T235M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1046465	NM_000379.4(XDH):c.698G>T (p.Arg233Leu)	XDH (R233L)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 2954	NM_000379.4(XDH):c.682C>T (p.Arg228Ter)	XDH (R228*)	Single nucleotide variant (nonsense)	Xanthinuria type II +1 more	GPathogenic
Select item 1457782	NM_000379.4(XDH):c.641del (p.Pro214fs)	XDH (P214fs)	Deletion (frameshift variant)	Xanthinuria type II +1 more	GPathogenic
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 1648352	NM_000379.4(XDH):c.565-17G>A	XDH	Single nucleotide variant (intron variant)	Hereditary xanthinuria type 1 +1 more	GLikely benign
Select item 895999	NM_000379.4(XDH):c.545A>G (p.Asn182Ser)	XDH (N182S)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1008751	NM_000379.4(XDH):c.485C>A (p.Thr162Asn)	XDH (T162N)	Single nucleotide variant (missense variant)	Xanthinuria type II +2 more	GUncertain significance
Select item 1377991	NM_000379.4(XDH):c.482G>A (p.Arg161Gln)	XDH (R161Q)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +2 more	GUncertain significance
Select item 649230	NM_000379.4(XDH):c.463C>A (p.Pro155Thr)	XDH (P155T)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 896002	NM_000379.4(XDH):c.446G>A (p.Arg149His)	XDH (R149H)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 1062378	NM_000379.4(XDH):c.429C>G (p.Phe143Leu)	XDH (F143L)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 897596	NM_000379.4(XDH):c.349A>T (p.Thr117Ser)	XDH (T117S)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 1426272	NM_000379.4(XDH):c.328G>A (p.Gly110Ser)	XDH (G110S)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 1551278	NM_000379.4(XDH):c.327C>T (p.His109=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +1 more	GLikely benign
Select item 1095748	NM_000379.4(XDH):c.225C>G (p.Ala75=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +1 more	GLikely benign
Select item 762476	NM_000379.4(XDH):c.192G>T (p.Lys64Asn)	XDH (K64N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 945553	NM_000379.4(XDH):c.167C>G (p.Ser56Cys)	XDH (S56C)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 641114	NM_000379.4(XDH):c.140dup (p.Cys48fs)	XDH (C48fs)	Duplication (frameshift variant)	Hereditary xanthinuria type 1 +1 more	GPathogenic
Select item 708455	NM_000379.4(XDH):c.101-7C>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II +1 more	GLikely benign
Select item 940658	NM_000379.4(XDH):c.33T>G (p.Asn11Lys)	XDH (N11K)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +2 more	GUncertain significance

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Items: 90