ClinVar for MedGen (Select 82771) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236186	NM_000379.4(XDH):c.849G>A (p.Trp283Ter)	XDH (W283*)	Single nucleotide variant (nonsense)	Hereditary xanthinuria type 1	GLikely pathogenic
Select item 3234992	NM_000379.4(XDH):c.676C>T (p.Gln226Ter)	XDH (Q226*)	Single nucleotide variant (nonsense)	Hereditary xanthinuria type 1	GLikely pathogenic
Select item 3064756	NM_000379.4(XDH):c.793+1G>A	XDH	Single nucleotide variant (splice donor variant)	Hereditary xanthinuria type 1	GLikely pathogenic
Select item 2585395	NM_000379.4(XDH):c.3352-2A>G	XDH	Single nucleotide variant (splice acceptor variant)	Hereditary xanthinuria type 1	GLikely pathogenic
Select item 2446438	Single allele	SRD5A2	Deletion	Hereditary xanthinuria type 1	GLikely pathogenic
Select item 2446001	NM_000379.4(XDH):c.2006G>C (p.Gly669Ala)	XDH (G669A)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1459919	NM_000379.4(XDH):c.2969+8C>T	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II +1 more	GLikely benign
Select item 1457782	NM_000379.4(XDH):c.641del (p.Pro214fs)	XDH (P214fs)	Deletion (frameshift variant)	Xanthinuria type II +1 more	GPathogenic
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 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 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 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 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 1400312	NM_000379.4(XDH):c.3163C>G (p.Leu1055Val)	XDH (L1055V)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 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 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 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 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 1249715	NM_000379.4(XDH):c.1243-43A>G	XDH	Single nucleotide variant (intron variant)	not provided +1 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 1179049	NM_000379.4(XDH):c.2198-2A>C	XDH	Single nucleotide variant (splice acceptor variant)	Hereditary xanthinuria type 1	GLikely pathogenic
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 1165590	NM_000379.4(XDH):c.2794G>A (p.Ala932Thr)	XDH (A932T)	Single nucleotide variant (missense variant)	Xanthinuria type II	GBenign
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 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 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 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 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 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 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 1030752	NM_000379.4(XDH):c.1456G>A (p.Val486Met)	XDH (V486M)	Single nucleotide variant (missense variant)	Xanthinuria type II +1 more	GUncertain significance
Select item 1027672	NM_000379.4(XDH):c.2751del (p.Gln919fs)	XDH (Q919fs)	Deletion (frameshift variant)	Hereditary xanthinuria type 1	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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
Select item 898696	NM_000379.4(XDH):c.787G>A (p.Glu263Lys)	XDH (E263K)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 898695	NM_000379.4(XDH):c.859C>G (p.Leu287Val)	XDH (L287V)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +2 more	GConflicting classifications of pathogenicity
Select item 898694	NM_000379.4(XDH):c.1038+7C>T	XDH	Single nucleotide variant (intron variant)	Hereditary xanthinuria type 1 +1 more	GConflicting classifications of pathogenicity
Select item 898635	NM_000379.4(XDH):c.1856+10A>G	XDH	Single nucleotide variant (intron variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 898583	NM_000379.4(XDH):c.2728A>G (p.Thr910Ala)	XDH (T910A)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 898582	NM_000379.4(XDH):c.2751G>A (p.Gly917=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +1 more	GConflicting classifications of pathogenicity
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 898504	NM_000379.4(XDH):c.3677G>A (p.Ser1226Asn)	XDH (S1226N)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	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 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 898501	NM_000379.4(XDH):c.3774+15G>A	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II +1 more	GConflicting classifications of pathogenicity
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 898438	NM_000379.4(XDH):c.*731A>G	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 898437	NM_000379.4(XDH):c.*732T>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897599	NM_000379.4(XDH):c.136G>C (p.Gly46Arg)	XDH (G46R)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897598	NM_000379.4(XDH):c.182T>C (p.Leu61Pro)	XDH (L61P)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +1 more	GUncertain significance
Select item 897597	NM_000379.4(XDH):c.280A>C (p.Thr94Pro)	XDH (T94P)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	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 897545	NM_000379.4(XDH):c.1132+11T>C	XDH	Single nucleotide variant (intron variant)	Xanthinuria type II +1 more	GConflicting classifications of pathogenicity
Select item 897544	NM_000379.4(XDH):c.1276C>G (p.Arg426Gly)	XDH (R426G)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897415	NM_000379.4(XDH):c.3043C>T (p.Leu1015=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1	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 897350	NM_000379.4(XDH):c.3919C>T (p.Arg1307Cys)	XDH (R1307C)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
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 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 897347	NM_000379.4(XDH):c.*6G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897346	NM_000379.4(XDH):c.*43T>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897267	NM_000379.4(XDH):c.*913T>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897266	NM_000379.4(XDH):c.*1062T>C	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897265	NM_000379.4(XDH):c.*1183T>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897264	NM_000379.4(XDH):c.*1220C>T	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897263	NM_000379.4(XDH):c.*1264G>A	XDH	Single nucleotide variant (3 prime UTR variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897067	NM_000379.4(XDH):c.1287T>A (p.Asp429Glu)	XDH (D429E)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 897066	NM_000379.4(XDH):c.1304C>A (p.Thr435Asn)	XDH (T435N)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
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 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 897063	NM_000379.4(XDH):c.1427+15C>A	XDH	Single nucleotide variant (intron variant)	Hereditary xanthinuria type 1 +1 more	GBenign
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 897061	NM_000379.4(XDH):c.1495G>A (p.Asp499Asn)	XDH (D499N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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