Sugi Variant

Sugi Variant/UMOD

UMOD — 627 ClinVar variants

All ClinVar germline UMOD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 282 flagged for review →

31 Pathogenic · 8 Pathogenic/Likely pathogenic · 70 Likely pathogenic · 49 Conflicting · 32 Benign · 17 Benign/Likely benign · 115 Likely benign · 305 Uncertain significance

Full UMOD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 282

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 vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 32

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 184

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 184

Predictors split 63

The independent predictors disagree with each other — read with care.

All UMOD variants

Pathogenic 31

  • p.Ala285Glu Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Arg185Cys Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Cys248Trp Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Cys315Tyr Multiple submitters
  • p.His177_Arg185del Multiple submitters UMOD-related disorder
  • p.Val93_Gly97delinsAlaAlaSerCys Multiple submitters autosomal dominant medullary cystic kidney disease with or without hyperuricemia
  • p.Arg185His Single submitter
  • p.Cys120Gly Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys126Arg Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys148Tyr Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys217Trp Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys287Tyr Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys297Tyr Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys77Arg Single submitter
  • p.Cys92Trp Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Gly55Ser Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Thr225Met Single submitter
  • p.Trp184Cys Single submitter
  • p.Asn128Ser No assertion criteria familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Cys148Trp No assertion criteria familial juvenile hyperuricemic nephropathy type 1
  • p.Cys217Arg No assertion criteria familial juvenile hyperuricemic nephropathy type 1
  • p.Cys217Gly No assertion criteria familial juvenile hyperuricemic nephropathy type 1
  • p.Cys248Ser No assertion criteria familial juvenile hyperuricemic nephropathy type 1
  • p.Cys255Tyr No assertion criteria familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Cys300Gly No assertion criteria familial juvenile hyperuricemic nephropathy type 1
  • p.Cys315Arg No assertion criteria familial juvenile hyperuricemic nephropathy type 1
  • p.Cys77Tyr No assertion criteria familial juvenile hyperuricemic nephropathy type 1
  • p.Cys94Ser No assertion criteria familial juvenile hyperuricemic nephropathy type 1
  • p.Glu164Ter No assertion criteria familial juvenile hyperuricemic nephropathy type 1
  • p.His36Tyr No assertion criteria familial juvenile hyperuricemic nephropathy type 1
  • p.Trp31Cys No assertion criteria familial juvenile hyperuricemic nephropathy type 1

Pathogenic/Likely pathogenic 8

  • p.Arg204Gly Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Cys106Tyr Multiple submitters autosomal dominant medullary cystic kidney disease with or without hyperuricemia
  • p.Cys112Tyr Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Cys297Arg Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Cys317Gly Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Cys317Tyr Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Pro236Arg Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Pro236Leu Multiple submitters UMOD-related disorder

Likely pathogenic 70

  • p.Ala461Glu Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Cys120Arg Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Cys126Trp Multiple submitters Renal tubulopathies
  • p.Cys256Ser Multiple submitters familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Cys77Ser Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Pro236Thr Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Arg185Gly Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Arg185Pro Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Arg185Ser Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Arg245Cys Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Asn85Ile Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Asn85Ser Single submitter ⚠
  • p.Asp196Asn Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Asp196Gly Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Asp67His Single submitter UMOD-related disorder
  • p.Cys112Phe Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys112Trp Single submitter
  • p.Cys120Phe Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys135Phe Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys148Ser Single submitter UMOD-related disorder
  • p.Cys155Ser Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys161Arg Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys170Trp Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys195_Asp196delinsTrpAsn Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys195Arg Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys223Ser Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys255Arg Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys287Gly Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys297Ser Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys297Trp Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys300Tyr Single submitter UMOD-related disorder
  • p.Cys306Gly Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys35Tyr Single submitter
  • p.Cys50Ser Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys50Trp Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys52Gly Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys63Phe Single submitter
  • p.Cys63Ser Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys63Trp Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys83Phe Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys83Trp Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys83Tyr Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Cys92Arg Single submitter kidney failure
  • p.Cys94Arg Single submitter UMOD-related disorder
  • p.Gln316Pro Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Glu68Val Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Gly103Cys Single submitter UMOD-related disorder
  • p.Gly105Asp Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Gly105Cys Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Gly201Cys Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Gly270Cys Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Gly488Arg Single submitter UMOD-related disorder
  • p.Gly60Ala Single submitter UMOD-related disorder
  • p.His399Arg Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Met229Lys Single submitter UMOD-related disorder
  • p.Phe205Ser Single submitter UMOD-related disorder
  • p.Phe90Cys Single submitter
  • p.Pro471Arg Single submitter
  • p.Ser91del Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Trp202Arg Single submitter
  • p.Trp202Cys Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Trp230Arg Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Trp258Cys Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Tyr559Cys Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Val273Phe Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Asn85Lys No assertion criteria
  • p.Cys137Trp No assertion criteria autosomal dominant medullary cystic kidney disease with or without hyperuricemia
  • p.Cys248Arg No assertion criteria familial juvenile hyperuricemic nephropathy type 1
  • p.Cys69Ser No assertion criteria
  • p.Gly488Asp No assertion criteria familial juvenile hyperuricemic nephropathy type 1 ⚠

Conflicting classifications of pathogenicity 49

  • c.1182+10G>A Single submitter familial juvenile hyperuricemic nephropathy type 1
  • c.973+7C>T Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Ala39Thr Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Ala500Val Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Arg178Pro Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Arg200His Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Arg204Cys Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Arg204His Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Arg375Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg385Trp Single submitter ⚠
  • p.Arg415Cys Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Arg459Trp Single submitter ⚠
  • p.Arg498Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg498Ter Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Arg588Gln Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Asp144Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp303Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp430Asn Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Asp492Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp59Tyr Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Asp67Gly Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Cys106Phe Single submitter UMOD-related disorder ⚠
  • p.Cys120Tyr Single submitter UMOD-related disorder ⚠
  • p.Cys300Ser Single submitter UMOD-related disorder ⚠
  • p.Glu304Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu330= Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Gly131Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly210Ser Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Gly253Asp Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Gly452Arg Single submitter UMOD-related disorder ⚠
  • p.Gly541= Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Gly58Cys Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Gly58Ser Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Gly88Asp Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.His121Tyr Single submitter Inborn genetic diseases
  • p.Leu180Val Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Leu66Pro Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Met213Leu Single submitter Inborn genetic diseases ⚠
  • p.Thr469Met Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Thr515Met Single submitter Inborn genetic diseases ⚠
  • p.Thr581Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr585Ile Single submitter kidney disorder ⚠
  • p.Thr62Pro Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠
  • p.Tyr183Cys Single submitter Cystic renal disease ⚠
  • p.Tyr189= Single submitter kidney disorder
  • p.Tyr486Ter Single submitter familial juvenile hyperuricemic nephropathy type 1
  • p.Val109Glu Single submitter UMOD-related disorder ⚠
  • p.Val206Ala Single submitter Inborn genetic diseases ⚠
  • p.Val550Ile Single submitter familial juvenile hyperuricemic nephropathy type 1 ⚠

Benign 32

Benign/Likely benign 17

  • c.1577+11G>A Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • c.1577+20A>T Multiple submitters
  • c.1740+18C>T Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • c.1740+38C>T Multiple submitters
  • p.Ala500= Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Arg142Gln Multiple submitters kidney disorder
  • p.Arg459Gln Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Glu111= Multiple submitters
  • p.Gly451= Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Gly488= Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Gly88= Multiple submitters
  • p.Phe354= Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Phe639Ser Multiple submitters familial juvenile hyperuricemic nephropathy type 1
  • p.Pro280= Multiple submitters kidney disorder
  • p.Thr187= Multiple submitters
  • p.Thr382= Multiple submitters
  • p.Tyr486= Multiple submitters kidney disorder

Likely benign 115

Uncertain significance 305

Showing the top 300 by review status; the full set is in the sitemap.