XDH — 1015 ClinVar variants
All ClinVar germline XDH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 460 flagged for review →
19 Pathogenic · 3 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 52 Conflicting · 111 Benign · 27 Benign/Likely benign · 247 Likely benign · 526 Uncertain significance
Full XDH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 460
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 19
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
XDH p.Ala346Val
Conflicting
Single submitter
xanthinuria type II
-
XDH p.Arg1296Gln
Conflicting
Single submitter
xanthinuria type II
-
XDH p.Arg1307His
Conflicting
Single submitter
xanthinuria type II
-
XDH p.Arg787Gln
Conflicting
Single submitter
Inborn genetic diseases
-
XDH p.Asn182Ser
Conflicting
Single submitter
Inborn genetic diseases
-
XDH p.Asp295Asn
Conflicting
Single submitter
Inborn genetic diseases
-
XDH p.Glu533Lys
Conflicting
Single submitter
xanthinuria type II
-
XDH p.Glu692Asp
Conflicting
Single submitter
xanthinuria type I
-
XDH p.Ile1179Thr
Conflicting
Single submitter
xanthinuria type II
-
XDH p.Ile788Phe
Conflicting
Single submitter
XDH-related disorder
-
XDH p.Lys1292Arg
Conflicting
Single submitter
xanthinuria type II
-
XDH p.Pro1216His
Conflicting
Single submitter
xanthinuria type II
-
XDH p.Pro555Ser
Conflicting
Single submitter
xanthinuria type I
-
XDH p.Pro555Thr
Conflicting
Single submitter
xanthinuria type I
-
XDH p.Thr623Ile
Conflicting
Single submitter
xanthinuria type I
-
XDH p.Thr910Met
Conflicting
Single submitter
xanthinuria type I
-
XDH p.Tyr818His
Conflicting
Single submitter
Inborn genetic diseases
-
XDH p.Val348Ile
Conflicting
Single submitter
xanthinuria type I
-
XDH p.Val592Met
Conflicting
Single submitter
xanthinuria type II
Predictors lean, ClinVar uncertain 217
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 217
-
XDH p.Ala453Thr
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Ala544Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Ala582Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Arg149His
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Arg161Gln
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Arg335His
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Arg426Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Arg508Gln
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Arg508Trp
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Arg576Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Arg805Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Arg913Trp
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Asn1188His
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Asn11Lys
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Asn1308Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Asn602Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Asp1247Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Asp499Asn
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Cys1318Tyr
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Cys1326Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Cys663Tyr
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Cys749Tyr
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Glu757Lys
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Glu925Lys
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Gly1035Arg
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Gly1088Glu
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Gly110Ser
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Gly114Arg
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Gly260Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Gly916Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.His1213Arg
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.His885Arg
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Ile1238Phe
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Ile139Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Lys990Arg
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Met54Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Pro1231Leu
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Pro177Gln
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Pro498Leu
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Pro676Leu
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Ser1226Asn
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Ser192Leu
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Ser56Cys
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Thr1078Met
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Thr117Ser
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Thr1222Ile
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Thr126Pro
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Thr435Asn
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Thr910Ala
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Tyr847Cys
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Val1291Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Val440Asp
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Val53Leu
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Val672Leu
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Ala1079Thr
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Ala1084Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Ala1093Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Ala28Thr
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Ala583Val
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Ala616Thr
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Ala924Asp
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Ala924Ser
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Arg129Trp
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Arg1332Gly
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Arg154Gly
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Arg426Gly
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Arg439Thr
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Arg508Pro
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Arg60His
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Arg787Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Arg791Gly
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Arg830Cys
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Arg830His
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Arg97Ser
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Arg981Leu
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Asn1188Lys
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Asn1289Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Asn1290Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Asn1325Lys
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Asn146Asp
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Asn175Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Asn651Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Asn705Ser
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Asp1166Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Asp1166Val
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Asp1298Glu
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Asp430Glu
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Asp553Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Asp557Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Asp595Glu
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Asp829Glu
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Cys180Trp
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Cys594Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Cys650Ser
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Cys889Ser
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Cys935Ser
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Cys993Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Cys993Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Gln1195Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Gln333Lys
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gln525His
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Gln559His
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gln919Leu
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gln958Arg
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Glu1144Asp
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Glu1324Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Glu232Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Glu325Ala
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Glu428Lys
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Glu530Asp
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Glu601Lys
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Glu726Gln
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gly1040Ser
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gly1088Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Gly1194Ala
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gly1194Val
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Gly1205Ala
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gly1218Arg
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gly1224Val
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Gly1234Cys
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gly174Arg
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gly46Arg
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gly718Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Gly756Asp
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Gly839Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Gly855Glu
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.His1034Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.His1044Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.His1221Arg
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.His187Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.His387Asp
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.His615Gln
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.His979Arg
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Ile1191Thr
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Ile1238Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Ile211Val
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Ile266Ser
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Ile403Thr
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Ile464Met
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Ile646Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Ile737Val
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Leu147Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Leu560Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Leu606Pro
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Leu80Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Lys1106Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Lys184Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Lys243Gln
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Lys33Arg
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Lys479Arg
Uncertain significance
Single submitter
xanthinuria type I
Predictors split 224
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 224
-
XDH p.Ala1020Val
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Ala1120Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Ala370Thr
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Ala638Thr
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Ala657Val
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Ala814Val
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Arg1176His
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Arg1223His
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Arg1246Cys
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Arg1246His
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Arg1280Cys
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Arg1296Trp
Benign/Likely benign
Multiple submitters
xanthinuria type II
-
XDH p.Arg233Cys
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Arg233Leu
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Arg599Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Arg599His
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Arg607Trp
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Arg787Trp
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Arg822His
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Arg881Gln
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Arg900Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Arg943Gln
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Asn1070Lys
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Asn1087Ser
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Asn957Ser
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Asp1277His
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Asp701Val
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Glu1103Asp
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Glu1217Lys
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Glu263Lys
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Glu286Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Glu716Lys
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Glu971Lys
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Gly172Arg
Benign/Likely benign
Multiple submitters
xanthinuria type II
-
XDH p.Gly782Arg
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.His955Tyr
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Ile352Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Ile703Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Ile703Val
Benign/Likely benign
Multiple submitters
xanthinuria type II
-
XDH p.Ile751Thr
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Leu1055Val
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Leu404Met
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Leu494Met
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Leu953Arg
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Lys395Met
Benign/Likely benign
Multiple submitters
xanthinuria type II
-
XDH p.Lys617Asn
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Met504Val
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Met761Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Phe143Leu
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Phe632Leu
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Pro1104Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Pro134Leu
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Pro155Thr
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Pro276Ser
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Pro320Arg
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Ser1052Gly
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Ser368Ile
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Thr1069Ala
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Thr1069Ser
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Thr162Asn
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Thr235Met
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Thr39Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Thr435Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Thr510Ala
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Thr767Ala
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Thr94Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Tyr1134Cys
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Tyr1156Cys
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Tyr709Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Val1091Leu
Benign/Likely benign
Multiple submitters
xanthinuria type II
-
XDH p.Val1163Ala
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Val121Ile
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Val259Met
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Val326Gly
Uncertain significance
Multiple submitters
xanthinuria type I
-
XDH p.Val486Met
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Val629Phe
Uncertain significance
Multiple submitters
xanthinuria type II
-
XDH p.Val813Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
XDH p.Ala1051Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Ala1159Ser
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Ala1284Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Ala255Thr
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Ala317Val
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Ala670Thr
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Ala817Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Ala932Thr
Conflicting
Single submitter
xanthinuria type II
-
XDH p.Arg1053Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Arg1223Cys
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Arg1307Cys
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Arg161Trp
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Arg165Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Arg224Gln
Likely benign
Single submitter
xanthinuria type II
-
XDH p.Arg224Trp
Conflicting
Single submitter
xanthinuria type I
-
XDH p.Arg233His
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Arg328Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Arg32Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Arg335Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Arg426Gln
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Arg576Trp
Conflicting
Single submitter
xanthinuria type II
-
XDH p.Arg613Trp
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Arg791Gln
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Arg805Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Arg822Cys
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Arg896Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Arg896Trp
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Arg943Trp
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Arg981Gln
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Arg981Trp
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Asn1174Lys
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Asn867Ser
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Asn894Ser
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Asn909Ser
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Asn992Asp
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Asp429Glu
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Asp485Tyr
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Asp639Gly
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Asp701Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Asp986Asn
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Cys169Tyr
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Cys634Phe
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Cys889Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Gln144Pro
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gln238Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Gln251Arg
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Glu138Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Glu215Gly
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Glu263Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Glu309Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Glu402Asp
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Glu416Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Glu45Asp
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Glu677Asp
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Glu692Lys
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Glu803Asp
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Glu861Gly
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Glu880Val
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Glu961Lys
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gly1088Ala
Uncertain significance
Single submitter
xanthinuria type II
-
XDH p.Gly1112Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Gly329Arg
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gly35Val
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gly567Val
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gly669Ala
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gly821Ser
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gly899Ala
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Gly951Arg
Conflicting
Single submitter
xanthinuria type II
-
XDH p.His252Asn
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Ile1001Thr
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Ile1275Phe
Uncertain significance
Single submitter
xanthinuria type I
-
XDH p.Ile77Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
XDH p.Ile892Met
Likely benign
Single submitter
xanthinuria type II
All XDH variants
Pathogenic 19
- p.Arg1283Ter Multiple submitters xanthinuria type II
- p.Arg825Ter Multiple submitters xanthinuria type II
- p.Cys48fs Multiple submitters xanthinuria type II
- p.Glu760fs Multiple submitters xanthinuria type II
- p.Lys722Ter Multiple submitters xanthinuria type II
- p.Pro214fs Multiple submitters xanthinuria type I
- p.Ala556fs Single submitter xanthinuria type II
- p.Gln183Ter Single submitter xanthinuria type II
- p.Gln919fs Single submitter xanthinuria type I
- p.Glu200Ter Single submitter xanthinuria type II
- p.Glu448fs Single submitter xanthinuria type II
- p.Glu45fs Single submitter xanthinuria type II
- p.Gly1170fs Single submitter xanthinuria type II
- p.Ile1238fs Single submitter xanthinuria type II
- p.Lys476fs Single submitter xanthinuria type II
- p.Pro918fs Single submitter xanthinuria type II
- p.Ser192Ter Single submitter xanthinuria type II
- c.3520-1G>C No assertion criteria xanthinuria type I
- p.Thr856fs No assertion criteria xanthinuria type I
Pathogenic/Likely pathogenic 3
- p.Arg228Ter Multiple submitters xanthinuria type II
- p.Gln251Ter Multiple submitters xanthinuria type II
- p.Thr964fs Multiple submitters xanthinuria type II
Likely pathogenic 30
- c.1602+1G>A Multiple submitters xanthinuria type II
- c.565-1G>A Multiple submitters xanthinuria type II
- p.Cys148fs Multiple submitters xanthinuria type I
- c.1039-1G>C Single submitter xanthinuria type I
- c.1242_1242+6del Single submitter xanthinuria type I
- c.2198-2A>C Single submitter xanthinuria type I
- c.2457-2A>G Single submitter xanthinuria type II
- c.2631+1G>A Single submitter xanthinuria type I
- c.3052-2A>G Single submitter xanthinuria type II
- c.3352-2A>G Single submitter xanthinuria type I
- c.3774+2T>A Single submitter xanthinuria type I
- c.496-2A>G Single submitter xanthinuria type I
- c.564+1G>T Single submitter xanthinuria type I
- c.651+1G>A Single submitter xanthinuria type II
- c.793+1G>A Single submitter xanthinuria type I
- c.887-1G>A Single submitter xanthinuria type II
- c.887-1G>T Single submitter xanthinuria type I
- c.887-2A>G Single submitter xanthinuria type I
- p.Ala682fs Single submitter xanthinuria type I
- p.Arg149Cys Single submitter xanthinuria type I
- p.Arg791Ter Single submitter xanthinuria type I
- p.Gln1285Ter Single submitter xanthinuria type I
- p.Gln226Ter Single submitter xanthinuria type I
- p.Glu861Ter Single submitter xanthinuria type I
- p.Lys57Ter Single submitter xanthinuria type I
- p.Ser1111fs Single submitter xanthinuria type I
- p.Ser1147Ter Single submitter xanthinuria type I
- p.Thr1059fs Single submitter xanthinuria type I
- p.Trp283Ter Single submitter xanthinuria type I
- p.Val629fs Single submitter xanthinuria type I
Conflicting classifications of pathogenicity 52
- c.100+15G>C Single submitter xanthinuria type II
- c.1038+7C>T Single submitter xanthinuria type II
- c.1132+11T>C Single submitter xanthinuria type II
- c.1243-7C>G Single submitter xanthinuria type II
- c.1686+1G>C Single submitter xanthinuria type II
- c.1856+10A>G Single submitter xanthinuria type II
- c.1856+7G>A Single submitter xanthinuria type II
- c.3052-4C>T Single submitter xanthinuria type II
- c.3774+15G>A Single submitter xanthinuria type II
- c.495+15C>T Single submitter xanthinuria type II
- p.Ala1256= Single submitter xanthinuria type II
- p.Ala346Val Single submitter xanthinuria type II ⚠
- p.Ala583= Single submitter xanthinuria type II
- p.Ala932Thr Single submitter xanthinuria type II ⚠
- p.Arg1296Gln Single submitter xanthinuria type II ⚠
- p.Arg1307His Single submitter xanthinuria type II ⚠
- p.Arg224Trp Single submitter xanthinuria type I ⚠
- p.Arg576Trp Single submitter xanthinuria type II ⚠
- p.Arg787Gln Single submitter Inborn genetic diseases ⚠
- p.Asn182Ser Single submitter Inborn genetic diseases ⚠
- p.Asp295Asn Single submitter Inborn genetic diseases ⚠
- p.Cys1310= Single submitter xanthinuria type I
- p.Glu533Lys Single submitter xanthinuria type II ⚠
- p.Glu692Asp Single submitter xanthinuria type I ⚠
- p.Gly1288= Single submitter xanthinuria type I
- p.Gly917= Single submitter xanthinuria type II
- p.Gly951Arg Single submitter xanthinuria type II ⚠
- p.Ile1179Thr Single submitter xanthinuria type II ⚠
- p.Ile788Phe Single submitter XDH-related disorder ⚠
- p.Ile878= Single submitter xanthinuria type II
- p.Leu274= Single submitter xanthinuria type I
- p.Leu287Val Single submitter xanthinuria type I ⚠
- p.Lys1292Arg Single submitter xanthinuria type II ⚠
- p.Phe1006= Single submitter xanthinuria type I
- p.Phe275= Single submitter xanthinuria type II
- p.Pro1216His Single submitter xanthinuria type II ⚠
- p.Pro206Leu Single submitter xanthinuria type II ⚠
- p.Pro294= Single submitter xanthinuria type I
- p.Pro555Ser Single submitter xanthinuria type I ⚠
- p.Pro555Thr Single submitter xanthinuria type I ⚠
- p.Ser1083= Single submitter xanthinuria type II
- p.Ser425Cys Single submitter xanthinuria type I ⚠
- p.Thr135= Single submitter xanthinuria type II
- p.Thr202= Single submitter xanthinuria type II
- p.Thr623Ile Single submitter xanthinuria type I ⚠
- p.Thr679= Single submitter xanthinuria type I
- p.Thr910Met Single submitter xanthinuria type I ⚠
- p.Tyr600= Single submitter xanthinuria type II
- p.Tyr818His Single submitter Inborn genetic diseases ⚠
- p.Val234= Single submitter xanthinuria type I
- p.Val348Ile Single submitter xanthinuria type I ⚠
- p.Val592Met Single submitter xanthinuria type II ⚠
Benign 111
- c.100+27C>T Multiple submitters
- c.100+68A>C Multiple submitters
- c.101-35C>G Multiple submitters
- c.101-84G>T Multiple submitters
- c.1132+53T>C Multiple submitters
- c.1243-43A>G Multiple submitters xanthinuria type I
- c.1427+15C>A Multiple submitters xanthinuria type II
- c.1427+70C>G Multiple submitters
- c.1428-65A>G Multiple submitters
- c.1603-133C>T Multiple submitters
- c.1603-141A>G Multiple submitters
- c.1603-210G>T Multiple submitters
- c.1980+96A>G Multiple submitters
- c.2197+42G>C Multiple submitters
- c.2197+68G>A Multiple submitters
- c.2322+82A>G Multiple submitters
- c.2456+178G>A Multiple submitters
- c.2457-27G>A Multiple submitters
- c.2544+103A>G Multiple submitters
- c.2544+35A>T Multiple submitters xanthinuria type I
- c.2545-125C>T Multiple submitters
- c.2545-32T>C Multiple submitters
- c.2824-35G>A Multiple submitters
- c.2969+154T>C Multiple submitters
- c.2969+66dup Multiple submitters xanthinuria type II
- c.2970-38A>G Multiple submitters
- c.3052-12C>G Multiple submitters xanthinuria type II
- c.307-33A>G Multiple submitters
- c.3147+107G>A Multiple submitters
- c.3148-110G>A Multiple submitters
- c.3148-115T>C Multiple submitters
- c.3277-38G>A Multiple submitters
- c.3351+164T>C Multiple submitters
- c.3352-141A>G Multiple submitters
- c.3352-30A>C Multiple submitters
- c.3405-153G>A Multiple submitters
- c.3520-45A>G Multiple submitters
- c.496-206A>G Multiple submitters
- c.496-52C>T Multiple submitters
- c.564+64C>T Multiple submitters
- c.652-27= Multiple submitters
- c.794-193A>G Multiple submitters
- c.*1477A>G Multiple submitters xanthinuria type I
- c.*1516C>T Multiple submitters xanthinuria type I
- c.*1555G>T Multiple submitters xanthinuria type I
- c.*41G>C Multiple submitters xanthinuria type I
- c.*518A>G Multiple submitters xanthinuria type I
- p.Asn1109Thr Multiple submitters xanthinuria type II
- p.Glu1239= Multiple submitters xanthinuria type II
- p.Glu209= Multiple submitters xanthinuria type II
- p.Gly503= Multiple submitters xanthinuria type II
- p.Ile737= Multiple submitters xanthinuria type II
- p.Phe1010= Multiple submitters xanthinuria type II
- p.Val664Ile Multiple submitters xanthinuria type II
- p.Val671= Multiple submitters xanthinuria type II
- c.1038+252T>C Single submitter
- c.1133-222C>T Single submitter
- c.1133-292T>C Single submitter
- c.1427+220G>A Single submitter
- c.1427+266_1427+274dup Single submitter
- c.1602+252A>G Single submitter
- c.1602+306T>C Single submitter
- c.1686+220C>T Single submitter
- c.1687-161A>G Single submitter
- c.1856+305T>G Single submitter
- c.1857-160T>C Single submitter
- c.1980+139A>G Single submitter
- c.1980+19del Single submitter xanthinuria type II
- c.1980+245G>A Single submitter
- c.1980+266A>G Single submitter
- c.1980+326G>A Single submitter
- c.2197+130C>T Single submitter
- c.2197+201C>G Single submitter
- c.2197+211C>T Single submitter
- c.2197+282T>C Single submitter
- c.2198-296T>C Single submitter
- c.2322+13del Single submitter xanthinuria type II
- c.2322+322A>G Single submitter
- c.2457-151T>G Single submitter
- c.2457-167T>C Single submitter
- c.2631+163C>T Single submitter
- c.2632-257T>C Single submitter
- c.2970-230T>G Single submitter
- c.306+276A>G Single submitter
- c.307-11G>A Single submitter xanthinuria type II
- c.3148-173C>T Single submitter
- c.3148-17G>A Single submitter xanthinuria type II
- c.3276+273C>G Single submitter
- c.3276+319T>C Single submitter
- c.3277-214C>T Single submitter
- c.3351+261G>C Single submitter
- c.3404+11T>C Single submitter xanthinuria type II
- c.3404+252A>C Single submitter
- c.3404+307G>T Single submitter
- c.3405-197G>A Single submitter
- c.3405-276T>A Single submitter
- c.3586-17C>T Single submitter xanthinuria type II
- c.3586-21_3586-20del Single submitter xanthinuria type II
- c.3775-268T>C Single submitter
- c.3952-221C>G Single submitter
- c.42+238C>T Single submitter
- c.43-125G>C Single submitter
- c.43-200T>G Single submitter
- c.434-19dup Single submitter xanthinuria type II
- c.495+14C>T Single submitter xanthinuria type II
- c.652-312dup Single submitter
- c.793+235A>T Single submitter
- c.886+196G>A Single submitter
- c.*1081A>G Single submitter xanthinuria type I
- p.Asp557Asn Single submitter xanthinuria type II
- p.His864= Single submitter xanthinuria type II
Benign/Likely benign 27
- c.1686+8C>T Multiple submitters xanthinuria type II
- c.1857-4G>A Multiple submitters xanthinuria type II
- c.2100+19_2100+22del Multiple submitters xanthinuria type I
- c.3276+12A>G Multiple submitters xanthinuria type II
- c.3405-15T>C Multiple submitters xanthinuria type II
- c.3951+14C>G Multiple submitters xanthinuria type II
- c.793+19G>A Multiple submitters xanthinuria type II
- p.Arg1296Trp Multiple submitters xanthinuria type II ⚠
- p.Asp584Ala Multiple submitters xanthinuria type II
- p.Glu133Lys Multiple submitters xanthinuria type I
- p.Gly1028= Multiple submitters xanthinuria type II
- p.Gly172Arg Multiple submitters xanthinuria type II ⚠
- p.Gly378= Multiple submitters xanthinuria type II
- p.Ile646Val Multiple submitters xanthinuria type II
- p.Ile703Val Multiple submitters xanthinuria type II ⚠
- p.Leu539= Multiple submitters xanthinuria type I
- p.Lys1313Glu Multiple submitters xanthinuria type II
- p.Lys395Met Multiple submitters xanthinuria type II ⚠
- p.Lys443= Multiple submitters xanthinuria type II
- p.Phe212= Multiple submitters xanthinuria type I
- p.Phe543= Multiple submitters xanthinuria type II
- p.Pro1263= Multiple submitters xanthinuria type II
- p.Ser1257= Multiple submitters xanthinuria type II
- p.Ser637= Multiple submitters xanthinuria type II
- p.Thr1125= Multiple submitters xanthinuria type II
- p.Val1091Leu Multiple submitters xanthinuria type II ⚠
- p.Val629Ile Multiple submitters xanthinuria type I
Likely benign 247
- c.101-7C>T Multiple submitters xanthinuria type II
- c.2545-32T>G Multiple submitters
- c.2631+20G>A Multiple submitters xanthinuria type II
- c.2969+8C>T Multiple submitters xanthinuria type II
- c.3147+70A>G Multiple submitters
- c.3519+13C>G Multiple submitters xanthinuria type II
- c.3774+32C>G Multiple submitters
- c.495+236G>A Multiple submitters
- c.564+39T>A Multiple submitters
- c.565-17G>A Multiple submitters xanthinuria type II
- c.651+31G>A Multiple submitters
- c.886+260C>T Multiple submitters
- c.-66G>C Multiple submitters xanthinuria type I
- p.Ala591= Multiple submitters xanthinuria type II
- p.Ala75= Multiple submitters xanthinuria type I
- p.Arg607Gln Multiple submitters xanthinuria type II
- p.Asn272= Multiple submitters xanthinuria type I
- p.Asp595= Multiple submitters xanthinuria type II
- p.Glu492= Multiple submitters xanthinuria type II
- p.Gly1036= Multiple submitters xanthinuria type II
- p.His109= Multiple submitters xanthinuria type II
- p.Leu527= Multiple submitters xanthinuria type II
- p.Leu549= Multiple submitters xanthinuria type II
- p.Lys64Asn Multiple submitters xanthinuria type I
- p.Ser289= Multiple submitters xanthinuria type I
- p.Thr262= Multiple submitters xanthinuria type II
- p.Thr820= Multiple submitters xanthinuria type I
- c.101-8C>T Single submitter xanthinuria type II
- c.1038+13C>G Single submitter xanthinuria type II
- c.1039-134G>A Single submitter
- c.1039-15C>G Single submitter xanthinuria type II
- c.1039-180T>C Single submitter
- c.1039-252A>G Single submitter
- c.1133-15C>T Single submitter xanthinuria type II
- c.1133-17A>G Single submitter xanthinuria type II
- c.1133-253T>C Single submitter
- c.1133-4A>G Single submitter xanthinuria type II
- c.1242+8G>A Single submitter xanthinuria type II
- c.1243-132G>A Single submitter
- c.1427+15C>T Single submitter xanthinuria type II
- c.1427+18A>G Single submitter xanthinuria type II
- c.1428-16C>A Single submitter xanthinuria type II
- c.1428-18C>T Single submitter xanthinuria type II
- c.1602+124T>C Single submitter
- c.1603-13C>G Single submitter xanthinuria type II
- c.1686+15T>C Single submitter xanthinuria type II
- c.1686+19T>C Single submitter xanthinuria type II
- c.1687-10G>C Single submitter xanthinuria type II
- c.1687-132C>T Single submitter
- c.1687-13C>G Single submitter xanthinuria type II
- c.1687-311T>C Single submitter
- c.1856+12C>T Single submitter xanthinuria type II
- c.1856+13G>A Single submitter xanthinuria type II
- c.1856+219C>T Single submitter
- c.198-4C>T Single submitter xanthinuria type II
- c.1981-10C>T Single submitter xanthinuria type II
- c.1981-235A>G Single submitter
- c.2100+20C>A Single submitter xanthinuria type II
- c.2197+17_2197+26del Single submitter xanthinuria type II
- c.2197+18C>A Single submitter xanthinuria type II
- c.2197+18C>T Single submitter xanthinuria type II
- c.2197+19G>A Single submitter xanthinuria type II
- c.2198-238T>C Single submitter
- c.2198-5C>T Single submitter xanthinuria type II
- c.2322+15G>A Single submitter xanthinuria type II
- c.2322+16G>A Single submitter xanthinuria type II
- c.2322+16G>C Single submitter xanthinuria type II
- c.2323-17C>G Single submitter xanthinuria type II
- c.2323-226A>G Single submitter
- c.2323-9C>T Single submitter xanthinuria type II
- c.2457-7C>G Single submitter xanthinuria type II
- c.2457-9A>G Single submitter xanthinuria type II
- c.2544+10G>A Single submitter xanthinuria type II
- c.2544+19G>A Single submitter xanthinuria type II
- c.2544+7G>A Single submitter xanthinuria type II
- c.2545-20C>T Single submitter xanthinuria type II
- c.2545-5A>G Single submitter xanthinuria type II
- c.2631+19C>T Single submitter xanthinuria type II
- c.2631+8G>A Single submitter xanthinuria type II
- c.2632-11C>G Single submitter xanthinuria type II
- c.2632-301C>A Single submitter
- c.2823+10G>T Single submitter xanthinuria type II
- c.2970-10T>C Single submitter xanthinuria type II
- c.3052-14T>C Single submitter xanthinuria type II
- c.3052-19C>A Single submitter xanthinuria type II
- c.306+19G>A Single submitter xanthinuria type II
- c.307-20A>G Single submitter xanthinuria type II
- c.3147+10C>G Single submitter xanthinuria type II
- c.3147+12T>C Single submitter xanthinuria type II
- c.3148-12C>T Single submitter xanthinuria type II
- c.3148-19A>G Single submitter xanthinuria type II
- c.3148-4G>C Single submitter xanthinuria type II
- c.3276+19C>T Single submitter xanthinuria type II
- c.3277-13G>T Single submitter xanthinuria type II
- c.3277-15G>T Single submitter xanthinuria type II
- c.3277-18G>T Single submitter xanthinuria type II
- c.3351+10A>C Single submitter xanthinuria type II
- c.3351+12C>G Single submitter xanthinuria type II
- c.3404+10G>C Single submitter xanthinuria type II
- c.3404+17C>T Single submitter xanthinuria type II
- c.3405-5C>G Single submitter xanthinuria type II
- c.3405-9C>T Single submitter
- c.3520-14G>T Single submitter xanthinuria type II
- c.3585+20G>C Single submitter xanthinuria type II
- c.3586-9A>G Single submitter xanthinuria type II
- c.3774+12C>T Single submitter xanthinuria type II
- c.3774+17T>A Single submitter xanthinuria type II
- c.3775-12G>C Single submitter xanthinuria type II
- c.3952-4C>G Single submitter xanthinuria type II
- c.42+18T>C Single submitter xanthinuria type II
- c.43-19C>A Single submitter xanthinuria type II
- c.433+18C>T Single submitter xanthinuria type II
- c.434-13C>T Single submitter xanthinuria type II
- c.434-14T>G Single submitter xanthinuria type II
- c.434-4A>G Single submitter xanthinuria type II
- c.495+8G>A Single submitter xanthinuria type II
- c.496-14C>A Single submitter xanthinuria type II
- c.564+14_564+16del Single submitter xanthinuria type II
- c.565-12C>G Single submitter xanthinuria type II
- c.565-14C>G Single submitter xanthinuria type II
- c.565-5C>T Single submitter xanthinuria type II
- c.793+13G>A Single submitter xanthinuria type II
- c.793+19G>T Single submitter xanthinuria type II
- c.793+20C>T Single submitter xanthinuria type II
- c.793+273T>G Single submitter
- c.793+9C>T Single submitter
- c.794-12G>A Single submitter xanthinuria type II
- c.794-18C>T Single submitter xanthinuria type II
- c.794-6C>G Single submitter xanthinuria type II
- c.886+10G>C Single submitter xanthinuria type II
- c.887-16G>A Single submitter xanthinuria type II
- c.887-17C>T Single submitter xanthinuria type II
- c.887-8G>A Single submitter xanthinuria type II
- c.*193G>A Single submitter xanthinuria type I
- c.*193G>T Single submitter xanthinuria type I
- c.*570G>C Single submitter xanthinuria type I
- c.*878T>C Single submitter xanthinuria type I
- c.*912A>T Single submitter xanthinuria type I
- p.Ala1084Thr Single submitter Inborn genetic diseases
- p.Ala1090= Single submitter xanthinuria type II
- p.Ala1093Glu Single submitter Inborn genetic diseases
- p.Ala1274= Single submitter xanthinuria type II
- p.Ala239= Single submitter xanthinuria type II
- p.Ala924= Single submitter xanthinuria type II
- p.Arg1246= Single submitter xanthinuria type II
- p.Arg1296= Single submitter xanthinuria type II
- p.Arg218= Single submitter xanthinuria type II
- p.Arg224Gln Single submitter xanthinuria type II ⚠
- p.Arg825= Single submitter xanthinuria type II
- p.Arg944= Single submitter xanthinuria type II
- p.Asn1289= Single submitter xanthinuria type II
- p.Asn178= Single submitter xanthinuria type II
- p.Asp1124= Single submitter xanthinuria type II
- p.Asp1192= Single submitter xanthinuria type II
- p.Asp254= Single submitter xanthinuria type II
- p.Asp254Glu Single submitter xanthinuria type II
- p.Asp485= Single submitter xanthinuria type II
- p.Asp831= Single submitter xanthinuria type II
- p.Cys113= Single submitter xanthinuria type II
- p.Cys303= Single submitter xanthinuria type II
- p.Cys48= Single submitter xanthinuria type II
- p.Cys73= Single submitter xanthinuria type II
- p.Cys902= Single submitter xanthinuria type II
- p.Cys972= Single submitter xanthinuria type II
- p.Gln112= Single submitter xanthinuria type II
- p.Glu200= Single submitter xanthinuria type II
- p.Glu45= Single submitter xanthinuria type II
- p.Glu950= Single submitter xanthinuria type II
- p.Gly1132= Single submitter xanthinuria type II
- p.Gly1194= Single submitter xanthinuria type II
- p.Gly1205= Single submitter xanthinuria type II
- p.Gly174= Single submitter xanthinuria type II
- p.Gly265= Single submitter xanthinuria type II
- p.Gly293= Single submitter xanthinuria type II
- p.Gly350= Single submitter xanthinuria type II
- p.Gly643= Single submitter xanthinuria type II
- p.Gly951= Single submitter xanthinuria type II
- p.Gly962= Single submitter xanthinuria type II
- p.His187= Single submitter xanthinuria type II
- p.His615= Single submitter xanthinuria type II
- p.Ile1165= Single submitter xanthinuria type II
- p.Ile120= Single submitter xanthinuria type II
- p.Ile156= Single submitter xanthinuria type II
- p.Ile65= Single submitter xanthinuria type II
- p.Ile715= Single submitter xanthinuria type II
- p.Ile892Met Single submitter xanthinuria type II ⚠
- p.Ile895= Single submitter xanthinuria type II
- p.Leu1031= Single submitter xanthinuria type II
- p.Leu1055= Single submitter xanthinuria type II
- p.Leu1265= Single submitter
- p.Leu219= Single submitter xanthinuria type II
- p.Leu248= Single submitter xanthinuria type II
- p.Leu26= Single submitter xanthinuria type II
- p.Leu305= Single submitter xanthinuria type II
- p.Leu404= Single submitter xanthinuria type II
- p.Leu441= Single submitter xanthinuria type II
- p.Leu901= Single submitter xanthinuria type II
- p.Leu973= Single submitter xanthinuria type II
- p.Leu98= Single submitter xanthinuria type II
- p.Lys340= Single submitter xanthinuria type II
- p.Lys422= Single submitter xanthinuria type II
- p.Lys721= Single submitter xanthinuria type II
- p.Lys853= Single submitter xanthinuria type II
- p.Met277Val Single submitter Inborn genetic diseases
- p.Pro1216= Single submitter xanthinuria type II
- p.Pro1231= Single submitter xanthinuria type II
- p.Pro1300= Single submitter xanthinuria type II
- p.Pro132= Single submitter xanthinuria type II
- p.Pro304= Single submitter xanthinuria type II
- p.Pro363= Single submitter xanthinuria type II
- p.Pro400= Single submitter xanthinuria type II
- p.Pro498= Single submitter xanthinuria type II
- p.Pro554= Single submitter xanthinuria type II
- p.Pro579= Single submitter xanthinuria type II
- p.Ser1065= Single submitter xanthinuria type II
- p.Ser108= Single submitter xanthinuria type II
- p.Ser192= Single submitter xanthinuria type II
- p.Ser359= Single submitter xanthinuria type II
- p.Ser368= Single submitter xanthinuria type II
- p.Ser475= Single submitter xanthinuria type II
- p.Ser707= Single submitter xanthinuria type II
- p.Thr1011= Single submitter xanthinuria type II
- p.Thr1037= Single submitter xanthinuria type II
- p.Thr1302= Single submitter xanthinuria type II
- p.Thr1316= Single submitter xanthinuria type II
- p.Thr235= Single submitter xanthinuria type II
- p.Thr373= Single submitter xanthinuria type II
- p.Thr52= Single submitter xanthinuria type II
- p.Thr811= Single submitter xanthinuria type II
- p.Thr86= Single submitter xanthinuria type II
- p.Thr871Ser Single submitter Inborn genetic diseases
- p.Thr910= Single submitter xanthinuria type II
- p.Tyr1255Phe Single submitter xanthinuria type II
- p.Tyr520= Single submitter xanthinuria type II
- p.Tyr736= Single submitter xanthinuria type II
- p.Val101= Single submitter xanthinuria type II
- p.Val1048= Single submitter xanthinuria type II
- p.Val1183= Single submitter xanthinuria type II
- p.Val16= Single submitter xanthinuria type II
- p.Val279= Single submitter xanthinuria type II
- p.Val290= Single submitter xanthinuria type II
- p.Val486= Single submitter xanthinuria type II
- p.Val7= Single submitter xanthinuria type II
- c.3775-6G>T No assertion criteria XDH-related disorder
- p.Asp674= No assertion criteria XDH-related disorder
- p.Thr151= No assertion criteria XDH-related disorder
- p.Val53= No assertion criteria XDH-related disorder
Uncertain significance 526
Showing the top 300 by review status; the full set is in the sitemap.
- c.1687-8C>A Multiple submitters xanthinuria type I
- c.3277-14G>T Multiple submitters xanthinuria type I
- c.3951+5G>T Multiple submitters xanthinuria type II
- c.*308C>A Multiple submitters xanthinuria type I
- p.Ala1020Val Multiple submitters xanthinuria type I ⚠
- p.Ala1120Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala346= Multiple submitters xanthinuria type II
- p.Ala370Thr Multiple submitters xanthinuria type II ⚠
- p.Ala453Thr Multiple submitters xanthinuria type II ⚠
- p.Ala544Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala582Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala638Thr Multiple submitters xanthinuria type II ⚠
- p.Ala657Val Multiple submitters xanthinuria type II ⚠
- p.Ala814Val Multiple submitters xanthinuria type I ⚠
- p.Arg1176His Multiple submitters xanthinuria type I ⚠
- p.Arg1223His Multiple submitters xanthinuria type II ⚠
- p.Arg1246Cys Multiple submitters xanthinuria type II ⚠
- p.Arg1246His Multiple submitters xanthinuria type II ⚠
- p.Arg1280Cys Multiple submitters xanthinuria type II ⚠
- p.Arg149His Multiple submitters xanthinuria type II ⚠
- p.Arg161Gln Multiple submitters xanthinuria type II ⚠
- p.Arg233Cys Multiple submitters xanthinuria type II ⚠
- p.Arg233Leu Multiple submitters xanthinuria type II ⚠
- p.Arg335His Multiple submitters xanthinuria type II ⚠
- p.Arg426Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg508Gln Multiple submitters xanthinuria type I ⚠
- p.Arg508Trp Multiple submitters xanthinuria type II ⚠
- p.Arg576Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg599Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg599His Multiple submitters xanthinuria type II ⚠
- p.Arg607Trp Multiple submitters xanthinuria type II ⚠
- p.Arg787Trp Multiple submitters xanthinuria type II ⚠
- p.Arg805Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg822His Multiple submitters xanthinuria type II ⚠
- p.Arg881Gln Multiple submitters xanthinuria type II ⚠
- p.Arg900Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg913Trp Multiple submitters xanthinuria type II ⚠
- p.Arg943Gln Multiple submitters xanthinuria type I ⚠
- p.Asn1070Lys Multiple submitters xanthinuria type II ⚠
- p.Asn1087Ser Multiple submitters xanthinuria type I ⚠
- p.Asn1188His Multiple submitters xanthinuria type II ⚠
- p.Asn11Lys Multiple submitters xanthinuria type II ⚠
- p.Asn1308Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn602Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn957Ser Multiple submitters xanthinuria type II ⚠
- p.Asp1247Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp1277His Multiple submitters xanthinuria type II ⚠
- p.Asp499Asn Multiple submitters xanthinuria type I ⚠
- p.Asp701Val Multiple submitters xanthinuria type II ⚠
- p.Cys1318Tyr Multiple submitters xanthinuria type I ⚠
- p.Cys1326Arg Multiple submitters Inborn genetic diseases ⚠
- p.Cys663Tyr Multiple submitters xanthinuria type I ⚠
- p.Cys749Tyr Multiple submitters xanthinuria type II ⚠
- p.Glu1103Asp Multiple submitters xanthinuria type I ⚠
- p.Glu1217Lys Multiple submitters xanthinuria type II ⚠
- p.Glu263Lys Multiple submitters xanthinuria type I ⚠
- p.Glu286Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu716Lys Multiple submitters xanthinuria type II ⚠
- p.Glu757Lys Multiple submitters xanthinuria type II ⚠
- p.Glu925Lys Multiple submitters xanthinuria type II ⚠
- p.Glu971Lys Multiple submitters xanthinuria type II ⚠
- p.Gly1035Arg Multiple submitters xanthinuria type II ⚠
- p.Gly1088Glu Multiple submitters xanthinuria type I ⚠
- p.Gly110Ser Multiple submitters xanthinuria type I ⚠
- p.Gly114Arg Multiple submitters xanthinuria type I ⚠
- p.Gly260Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly756= Multiple submitters xanthinuria type I
- p.Gly782Arg Multiple submitters xanthinuria type I ⚠
- p.Gly916Val Multiple submitters Inborn genetic diseases ⚠
- p.His1213Arg Multiple submitters xanthinuria type II ⚠
- p.His885Arg Multiple submitters xanthinuria type II ⚠
- p.His955Tyr Multiple submitters xanthinuria type I ⚠
- p.Ile1238Phe Multiple submitters xanthinuria type II ⚠
- p.Ile139Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile352Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile703Lys Multiple submitters Inborn genetic diseases ⚠
- p.Ile751Thr Multiple submitters xanthinuria type II ⚠
- p.Leu1055Val Multiple submitters xanthinuria type II ⚠
- p.Leu404Met Multiple submitters xanthinuria type II ⚠
- p.Leu494Met Multiple submitters xanthinuria type II ⚠
- p.Leu953Arg Multiple submitters xanthinuria type II ⚠
- p.Lys617Asn Multiple submitters xanthinuria type II ⚠
- p.Lys990Arg Multiple submitters xanthinuria type I ⚠
- p.Met504Val Multiple submitters xanthinuria type II ⚠
- p.Met54Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met761Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe143Leu Multiple submitters xanthinuria type II ⚠
- p.Phe632Leu Multiple submitters xanthinuria type I ⚠
- p.Pro1104Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro1231Leu Multiple submitters xanthinuria type II ⚠
- p.Pro134Leu Multiple submitters xanthinuria type II ⚠
- p.Pro155Thr Multiple submitters xanthinuria type II ⚠
- p.Pro177Gln Multiple submitters xanthinuria type I ⚠
- p.Pro276Ser Multiple submitters xanthinuria type II ⚠
- p.Pro320Arg Multiple submitters xanthinuria type II ⚠
- p.Pro498Leu Multiple submitters xanthinuria type I ⚠
- p.Pro676Leu Multiple submitters xanthinuria type II ⚠
- p.Ser1052Gly Multiple submitters xanthinuria type II ⚠
- p.Ser1226Asn Multiple submitters xanthinuria type I ⚠
- p.Ser192Leu Multiple submitters xanthinuria type I ⚠
- p.Ser368Ile Multiple submitters xanthinuria type II ⚠
- p.Ser56Cys Multiple submitters xanthinuria type II ⚠
- p.Thr1069Ala Multiple submitters xanthinuria type I ⚠
- p.Thr1069Ser Multiple submitters xanthinuria type II ⚠
- p.Thr1078Met Multiple submitters xanthinuria type II ⚠
- p.Thr117Ser Multiple submitters xanthinuria type II ⚠
- p.Thr1222Ile Multiple submitters xanthinuria type II ⚠
- p.Thr126Pro Multiple submitters xanthinuria type I ⚠
- p.Thr162Asn Multiple submitters xanthinuria type II ⚠
- p.Thr235Met Multiple submitters xanthinuria type II ⚠
- p.Thr39Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr435Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr435Asn Multiple submitters xanthinuria type I ⚠
- p.Thr510Ala Multiple submitters xanthinuria type II ⚠
- p.Thr767Ala Multiple submitters xanthinuria type I ⚠
- p.Thr910Ala Multiple submitters xanthinuria type II ⚠
- p.Thr94Pro Multiple submitters Inborn genetic diseases ⚠
- p.Tyr1134Cys Multiple submitters xanthinuria type II ⚠
- p.Tyr1156Cys Multiple submitters xanthinuria type II ⚠
- p.Tyr709Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr847Cys Multiple submitters xanthinuria type II ⚠
- p.Val1118= Multiple submitters xanthinuria type I
- p.Val1163Ala Multiple submitters xanthinuria type II ⚠
- p.Val121Ile Multiple submitters xanthinuria type II ⚠
- p.Val1291Met Multiple submitters Inborn genetic diseases ⚠
- p.Val259Met Multiple submitters xanthinuria type II ⚠
- p.Val326Gly Multiple submitters xanthinuria type I ⚠
- p.Val440Asp Multiple submitters xanthinuria type II ⚠
- p.Val486Met Multiple submitters xanthinuria type II ⚠
- p.Val53Leu Multiple submitters xanthinuria type II ⚠
- p.Val629Phe Multiple submitters xanthinuria type II ⚠
- p.Val672Leu Multiple submitters xanthinuria type II ⚠
- p.Val731del Multiple submitters xanthinuria type II
- p.Val813Leu Multiple submitters Inborn genetic diseases ⚠
- c.100+3A>G Single submitter xanthinuria type II
- c.101-6A>C Single submitter xanthinuria type I
- c.1242+7T>C Single submitter xanthinuria type I
- c.1428-3C>T Single submitter xanthinuria type I
- c.1602+11C>T Single submitter xanthinuria type I
- c.1686+18A>G Single submitter xanthinuria type I
- c.1686+4A>T Single submitter xanthinuria type II
- c.1687-13C>T Single submitter xanthinuria type I
- c.1856+5G>C Single submitter xanthinuria type II
- c.197+6del Single submitter xanthinuria type II
- c.198-14A>T Single submitter xanthinuria type I
- c.198-8G>T Single submitter xanthinuria type I
- c.2322+6T>G Single submitter xanthinuria type II
- c.2323-10T>G Single submitter xanthinuria type I
- c.2456+3G>A Single submitter xanthinuria type II
- c.2457-12G>A Single submitter xanthinuria type II
- c.2631+5G>A Single submitter xanthinuria type I
- c.2823+3A>G Single submitter xanthinuria type II
- c.3148-4G>T Single submitter xanthinuria type I
- c.3276+11_3276+12inv Single submitter xanthinuria type II
- c.3276+3A>G Single submitter xanthinuria type II
- c.3276+6G>A Single submitter xanthinuria type II
- c.3277-15G>A Single submitter xanthinuria type I
- c.3277-3del Single submitter xanthinuria type II
- c.3519+10T>G Single submitter xanthinuria type I
- c.3585+20G>A Single submitter xanthinuria type I
- c.3585+6G>C Single submitter xanthinuria type II
- c.3775-7T>C Single submitter xanthinuria type II
- c.3951+1G>A Single submitter xanthinuria type I
- c.495+13C>G Single submitter xanthinuria type I
- c.564+3A>G Single submitter
- c.652-5C>T Single submitter xanthinuria type I
- c.886+5G>A Single submitter xanthinuria type II
- c.886+8G>A Single submitter xanthinuria type I
- c.*105C>G Single submitter xanthinuria type I
- c.*1062T>C Single submitter xanthinuria type I
- c.*1183T>A Single submitter xanthinuria type I
- c.*1220C>T Single submitter xanthinuria type I
- c.*1264G>A Single submitter xanthinuria type I
- c.*1338G>T Single submitter xanthinuria type I
- c.*1407C>T Single submitter xanthinuria type I
- c.*1417A>G Single submitter xanthinuria type I
- c.*1452C>T Single submitter xanthinuria type I
- c.*1491A>G Single submitter xanthinuria type I
- c.*1494A>G Single submitter xanthinuria type I
- c.*1601G>A Single submitter xanthinuria type I
- c.*220G>T Single submitter xanthinuria type I
- c.*371C>T Single submitter xanthinuria type I
- c.*404C>T Single submitter xanthinuria type I
- c.*437C>T Single submitter xanthinuria type I
- c.*43T>C Single submitter xanthinuria type I
- c.*475A>C Single submitter xanthinuria type I
- c.*628A>G Single submitter xanthinuria type I
- c.*674C>G Single submitter xanthinuria type I
- c.*686A>C Single submitter xanthinuria type I
- c.*693G>A Single submitter xanthinuria type I
- c.*694T>C Single submitter xanthinuria type I
- c.*699C>T Single submitter xanthinuria type I
- c.*6G>A Single submitter xanthinuria type I
- c.*731A>G Single submitter xanthinuria type I
- c.*732T>C Single submitter xanthinuria type I
- c.*823A>G Single submitter xanthinuria type I
- c.*829G>A Single submitter xanthinuria type I
- c.*881G>A Single submitter xanthinuria type I
- c.*913T>A Single submitter xanthinuria type I
- c.*938G>T Single submitter xanthinuria type I
- c.*945C>A Single submitter xanthinuria type I
- p.Ala1051Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1079Thr Single submitter xanthinuria type II ⚠
- p.Ala1084Asp Single submitter Inborn genetic diseases ⚠
- p.Ala1093Val Single submitter Inborn genetic diseases ⚠
- p.Ala1159Ser Single submitter xanthinuria type II ⚠
- p.Ala1284Thr Single submitter Inborn genetic diseases ⚠
- p.Ala255Thr Single submitter xanthinuria type II ⚠
- p.Ala28Thr Single submitter xanthinuria type II ⚠
- p.Ala317Val Single submitter xanthinuria type II ⚠
- p.Ala583Val Single submitter xanthinuria type I ⚠
- p.Ala616Thr Single submitter xanthinuria type I ⚠
- p.Ala670Thr Single submitter xanthinuria type I ⚠
- p.Ala817Ser Single submitter Inborn genetic diseases ⚠
- p.Ala924Asp Single submitter xanthinuria type I ⚠
- p.Ala924Ser Single submitter xanthinuria type I ⚠
- p.Arg1053= Single submitter xanthinuria type I
- p.Arg1053Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1223Cys Single submitter xanthinuria type I ⚠
- p.Arg129Trp Single submitter xanthinuria type II ⚠
- p.Arg1307Cys Single submitter xanthinuria type I ⚠
- p.Arg1332Gly Single submitter xanthinuria type II ⚠
- p.Arg154Gly Single submitter xanthinuria type II ⚠
- p.Arg161Trp Single submitter xanthinuria type II ⚠
- p.Arg165Gly Single submitter Inborn genetic diseases ⚠
- p.Arg224= Single submitter xanthinuria type I
- p.Arg233His Single submitter xanthinuria type II ⚠
- p.Arg328Gly Single submitter Inborn genetic diseases ⚠
- p.Arg32Ile Single submitter Inborn genetic diseases ⚠
- p.Arg335Cys Single submitter Inborn genetic diseases ⚠
- p.Arg426Gln Single submitter xanthinuria type I ⚠
- p.Arg426Gly Single submitter xanthinuria type I ⚠
- p.Arg439Thr Single submitter xanthinuria type II ⚠
- p.Arg508Pro Single submitter xanthinuria type II ⚠
- p.Arg60His Single submitter Inborn genetic diseases ⚠
- p.Arg613Trp Single submitter xanthinuria type I ⚠
- p.Arg787Pro Single submitter Inborn genetic diseases ⚠
- p.Arg791Gln Single submitter xanthinuria type I ⚠
- p.Arg791Gly Single submitter xanthinuria type I ⚠
- p.Arg805Gln Single submitter Inborn genetic diseases ⚠
- p.Arg822Cys Single submitter xanthinuria type II ⚠
- p.Arg830Cys Single submitter xanthinuria type I ⚠
- p.Arg830His Single submitter xanthinuria type I ⚠
- p.Arg896Gln Single submitter Inborn genetic diseases ⚠
- p.Arg896Trp Single submitter xanthinuria type II ⚠
- p.Arg943Trp Single submitter xanthinuria type II ⚠
- p.Arg97del Single submitter xanthinuria type I
- p.Arg97Ser Single submitter xanthinuria type II ⚠
- p.Arg981Gln Single submitter xanthinuria type I ⚠
- p.Arg981Leu Single submitter xanthinuria type II ⚠
- p.Arg981Trp Single submitter xanthinuria type II ⚠
- p.Asn1174Lys Single submitter xanthinuria type II ⚠
- p.Asn1188Lys Single submitter xanthinuria type I ⚠
- p.Asn1289Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1290Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1325Lys Single submitter xanthinuria type I ⚠
- p.Asn146Asp Single submitter xanthinuria type I ⚠
- p.Asn175Thr Single submitter Inborn genetic diseases ⚠
- p.Asn651Ser Single submitter Inborn genetic diseases ⚠
- p.Asn705Ser Single submitter xanthinuria type I ⚠
- p.Asn867Ser Single submitter xanthinuria type I ⚠
- p.Asn894Ser Single submitter xanthinuria type I ⚠
- p.Asn909Ser Single submitter xanthinuria type I ⚠
- p.Asn992Asp Single submitter xanthinuria type I ⚠
- p.Asp1166Gly Single submitter Inborn genetic diseases ⚠
- p.Asp1166Val Single submitter xanthinuria type II ⚠
- p.Asp1298Glu Single submitter xanthinuria type II ⚠
- p.Asp295= Single submitter xanthinuria type II
- p.Asp429Glu Single submitter xanthinuria type I ⚠
- p.Asp430Glu Single submitter xanthinuria type I ⚠
- p.Asp485Tyr Single submitter xanthinuria type II ⚠
- p.Asp534= Single submitter xanthinuria type II
- p.Asp553Ala Single submitter Inborn genetic diseases ⚠
- p.Asp557Val Single submitter Inborn genetic diseases ⚠
- p.Asp595Glu Single submitter xanthinuria type I ⚠
- p.Asp639Gly Single submitter xanthinuria type I ⚠
- p.Asp701Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp829Glu Single submitter xanthinuria type I ⚠
- p.Asp986Asn Single submitter xanthinuria type II ⚠
- p.Cys169Tyr Single submitter xanthinuria type I ⚠
- p.Cys180Trp Single submitter xanthinuria type I ⚠
- p.Cys51_Thr52del Single submitter xanthinuria type II
- p.Cys594Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys634Phe Single submitter xanthinuria type I ⚠
- p.Cys650Ser Single submitter xanthinuria type II ⚠
- p.Cys889Ser Single submitter xanthinuria type II ⚠
- p.Cys889Trp Single submitter Inborn genetic diseases ⚠
- p.Cys935Ser Single submitter xanthinuria type II ⚠
- p.Cys972Phe Single submitter xanthinuria type II
- p.Cys993Phe Single submitter Inborn genetic diseases ⚠
- p.Cys993Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln1195Glu Single submitter Inborn genetic diseases ⚠
- p.Gln144Pro Single submitter xanthinuria type I ⚠
- p.Gln238Glu Single submitter Inborn genetic diseases ⚠
- p.Gln251Arg Single submitter xanthinuria type II ⚠
- p.Gln333Lys Single submitter xanthinuria type I ⚠
- p.Gln525His Single submitter xanthinuria type II ⚠
- p.Gln559His Single submitter xanthinuria type I ⚠
- p.Gln919Leu Single submitter xanthinuria type I ⚠
- p.Gln958Arg Single submitter xanthinuria type II ⚠