Sugi Variant

Sugi Variant/ALG8

ALG8 — 459 ClinVar variants

All ClinVar germline ALG8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 192 flagged for review →

17 Pathogenic · 10 Pathogenic/Likely pathogenic · 37 Likely pathogenic · 21 Conflicting · 58 Benign · 8 Benign/Likely benign · 96 Likely benign · 212 Uncertain significance

Full ALG8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 192

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 6

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

Predictors lean, ClinVar uncertain 90

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 96

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

All ALG8 variants

Pathogenic 17

  • p.Arg41Gln Multiple submitters ALG8-congenital disorder of glycosylation
  • p.Arg268Ter Single submitter ALG8-congenital disorder of glycosylation
  • p.Gln323Ter Single submitter polycystic liver disease 3 with or without kidney cysts
  • p.Gln87Ter Single submitter ALG8-congenital disorder of glycosylation
  • p.Glu452fs Single submitter ALG8-congenital disorder of glycosylation
  • p.His48fs Single submitter ALG8-congenital disorder of glycosylation
  • p.Thr367fs Single submitter ALG8-congenital disorder of glycosylation
  • p.Thr47Pro Single submitter polycystic liver disease 3 with or without kidney cysts
  • p.Trp230Ter Single submitter Inborn genetic diseases
  • c.96-2A>G No assertion criteria ALG8-congenital disorder of glycosylation
  • p.Ala500_Val501insTer No assertion criteria autosomal dominant polycystic liver disease
  • p.Cys124fs No assertion criteria autosomal dominant polycystic liver disease
  • p.Gln54Ter No assertion criteria autosomal dominant polycystic liver disease
  • p.His160Leu No assertion criteria ALG8-congenital disorder of glycosylation
  • p.Leu407fs No assertion criteria ALG8-congenital disorder of glycosylation
  • p.Phe406_Leu407insTer No assertion criteria ALG8-related disorder
  • p.Thr138fs No assertion criteria ALG8-congenital disorder of glycosylation

Pathogenic/Likely pathogenic 10

  • p.Arg179Ter Multiple submitters ALG8-congenital disorder of glycosylation
  • p.Arg268fs Multiple submitters ALG8-congenital disorder of glycosylation
  • p.Arg364Ter Multiple submitters Cystic renal disease
  • p.Arg41Ter Multiple submitters familial cystic renal disease
  • p.Asn91fs Multiple submitters polycystic liver disease 3 with or without kidney cysts
  • p.Gly275fs Multiple submitters ALG8-congenital disorder of glycosylation
  • p.Leu104fs Multiple submitters Inborn genetic diseases
  • p.Leu247Ter Multiple submitters ALG8-congenital disorder of glycosylation
  • p.Pro255fs Multiple submitters ALG8-congenital disorder of glycosylation
  • p.Val328fs Multiple submitters familial cystic renal disease

Likely pathogenic 37

  • c.368+2T>G Multiple submitters polycystic liver disease 3 with or without kidney cysts
  • c.674-2A>G Multiple submitters ALG8-congenital disorder of glycosylation
  • c.777+1G>A Multiple submitters ALG8-congenital disorder of glycosylation
  • c.95+1G>A Multiple submitters polycystic liver disease 3 with or without kidney cysts
  • p.Arg229Ter Multiple submitters ALG8-congenital disorder of glycosylation
  • p.Gln182Ter Multiple submitters polycystic liver disease 3 with or without kidney cysts
  • p.Ser372fs Multiple submitters ALG8-congenital disorder of glycosylation
  • p.Trp353fs Multiple submitters ALG8-congenital disorder of glycosylation
  • p.Trp378Cys Multiple submitters polycystic liver disease 3 with or without kidney cysts
  • p.Trp73Ter Multiple submitters ALG8-congenital disorder of glycosylation
  • c.1178+1G>T Single submitter ALG8-congenital disorder of glycosylation
  • c.1179-7_1179-2del Single submitter ALG8-congenital disorder of glycosylation
  • c.1276+1G>A Single submitter ALG8-congenital disorder of glycosylation
  • c.174+2del Single submitter ALG8-congenital disorder of glycosylation
  • c.175-1G>A Single submitter
  • c.175-2A>G Single submitter polycystic liver disease 3 with or without kidney cysts
  • c.368+1G>A Single submitter ALG8-congenital disorder of glycosylation
  • c.547-2A>G Single submitter familial cystic renal disease
  • c.673+4A>G Single submitter polycystic liver disease 3 with or without kidney cysts
  • c.674-2A>T Single submitter
  • c.899-1G>A Single submitter ALG8-congenital disorder of glycosylation
  • c.96-1G>A Single submitter ALG8-congenital disorder of glycosylation
  • p.Arg215Ter Single submitter ALG8-congenital disorder of glycosylation
  • p.Gln322Ter Single submitter familial cystic renal disease
  • p.Glu452Ter Single submitter ALG8-congenital disorder of glycosylation
  • p.Gly275Asp Single submitter polycystic liver disease 3 with or without kidney cysts
  • p.Ile46fs Single submitter ALG8-congenital disorder of glycosylation
  • p.Leu241fs Single submitter polycystic liver disease 3 with or without kidney cysts
  • p.Leu257Pro Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Leu395fs Single submitter ALG8-congenital disorder of glycosylation
  • p.Trp378fs Single submitter ALG8-congenital disorder of glycosylation
  • p.Trp55fs Single submitter ALG8-congenital disorder of glycosylation
  • p.Tyr289Ter Single submitter ALG8-congenital disorder of glycosylation
  • p.Tyr511Ter Single submitter ALG8-congenital disorder of glycosylation
  • c.898+1G>T No assertion criteria ALG8-related disorder
  • p.Phe235fs No assertion criteria ALG8-related disorder
  • p.Tyr415Ter No assertion criteria polycystic liver disease 3 with or without kidney cysts

Conflicting classifications of pathogenicity 21

  • c.1038+1G>T Single submitter familial cystic renal disease
  • c.369-6A>G Single submitter ALG8-congenital disorder of glycosylation
  • c.478+1G>A Single submitter ALG8-congenital disorder of glycosylation
  • c.96-6G>C Single submitter ALG8-congenital disorder of glycosylation
  • p.Ala506Thr Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Arg122His Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Asn12= Single submitter ALG8-congenital disorder of glycosylation
  • p.Asn290Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp225= Single submitter ALG8-congenital disorder of glycosylation
  • p.Gly502= Single submitter ALG8-congenital disorder of glycosylation
  • p.His160Tyr Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ile228Val Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ile52Val Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Pro69Leu Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ser404Leu Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Trp286Gly Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Tyr487Cys Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Tyr76= Single submitter ALG8-congenital disorder of glycosylation
  • p.Tyr84Cys Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Val133fs Single submitter ALG8-congenital disorder of glycosylation
  • p.Val328= Single submitter ALG8-congenital disorder of glycosylation

Benign 58

Benign/Likely benign 8

  • c.1276+10G>A Multiple submitters ALG8-congenital disorder of glycosylation
  • c.175-18C>A Multiple submitters ALG8-congenital disorder of glycosylation
  • p.Arg268Gln Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Asn222Ser Multiple submitters ALG8-congenital disorder of glycosylation
  • p.Gly11Ala Multiple submitters ALG8-congenital disorder of glycosylation
  • p.Ile299Thr Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Ile439Thr Multiple submitters ALG8-congenital disorder of glycosylation
  • c.1349+1027_1349+1028del No assertion criteria

Likely benign 96

  • c.1178+7A>G Multiple submitters ALG8-congenital disorder of glycosylation
  • c.175-13A>G Multiple submitters polycystic liver disease 3 with or without kidney cysts
  • c.546+12T>G Multiple submitters ALG8-congenital disorder of glycosylation
  • c.899-121G>A Multiple submitters
  • c.95+16G>A Multiple submitters polycystic liver disease 3 with or without kidney cysts
  • p.Gln526= Multiple submitters ALG8-congenital disorder of glycosylation
  • p.Pro330= Multiple submitters ALG8-congenital disorder of glycosylation
  • c.1038+16A>G Single submitter ALG8-congenital disorder of glycosylation
  • c.1038+172A>G Single submitter
  • c.1038+223_1038+224del Single submitter
  • c.1038+260A>G Single submitter
  • c.1038+9T>G Single submitter
  • c.1039-11G>A Single submitter ALG8-congenital disorder of glycosylation
  • c.1039-19C>G Single submitter ALG8-congenital disorder of glycosylation
  • c.1039-276AT[15] Single submitter
  • c.1039-7T>C Single submitter ALG8-congenital disorder of glycosylation
  • c.1178+10T>C Single submitter ALG8-congenital disorder of glycosylation
  • c.1179-190G>A Single submitter
  • c.1179-20G>T Single submitter ALG8-congenital disorder of glycosylation
  • c.1179-4T>A Single submitter ALG8-congenital disorder of glycosylation
  • c.1179-8A>G Single submitter ALG8-congenital disorder of glycosylation
  • c.1276+17G>C Single submitter ALG8-congenital disorder of glycosylation
  • c.1276+9C>T Single submitter ALG8-congenital disorder of glycosylation
  • c.1277-10_1277-8del Single submitter ALG8-congenital disorder of glycosylation
  • c.1277-10C>T Single submitter
  • c.1277-29T>C Single submitter
  • c.1277-44C>G Single submitter
  • c.1349+12A>G Single submitter ALG8-congenital disorder of glycosylation
  • c.1350-280del Single submitter
  • c.174+136G>T Single submitter
  • c.174+19C>G Single submitter ALG8-congenital disorder of glycosylation
  • c.368+13C>A Single submitter ALG8-congenital disorder of glycosylation
  • c.368+16G>T Single submitter ALG8-congenital disorder of glycosylation
  • c.368+261G>C Single submitter
  • c.369-15A>G Single submitter ALG8-congenital disorder of glycosylation
  • c.369-6A>C Single submitter ALG8-congenital disorder of glycosylation
  • c.369-6A>T Single submitter ALG8-congenital disorder of glycosylation
  • c.478+321C>T Single submitter
  • c.479-10dup Single submitter ALG8-congenital disorder of glycosylation
  • c.479-179_479-170del Single submitter
  • c.479-179_479-178del Single submitter
  • c.479-197dup Single submitter
  • c.546+135G>A Single submitter
  • c.546+284G>C Single submitter
  • c.546+7A>T Single submitter ALG8-congenital disorder of glycosylation
  • c.547-319T>C Single submitter
  • c.673+13A>T Single submitter ALG8-congenital disorder of glycosylation
  • c.674-27G>T Single submitter
  • c.777+164_777+170del Single submitter
  • c.777+170G>T Single submitter
  • c.777+8_777+12dup Single submitter
  • c.898+10C>T Single submitter ALG8-congenital disorder of glycosylation
  • c.898+88T>C Single submitter
  • c.898+8A>G Single submitter ALG8-congenital disorder of glycosylation
  • c.899-15A>G Single submitter ALG8-congenital disorder of glycosylation
  • c.899-168G>C Single submitter
  • c.95+791A>C Single submitter
  • c.96-15A>G Single submitter ALG8-congenital disorder of glycosylation
  • c.96-276_96-275del Single submitter
  • c.96-6G>A Single submitter ALG8-congenital disorder of glycosylation
  • c.96-9T>G Single submitter ALG8-congenital disorder of glycosylation
  • p.Ala18= Single submitter ALG8-congenital disorder of glycosylation
  • p.Arg215= Single submitter ALG8-congenital disorder of glycosylation
  • p.Asp129= Single submitter ALG8-congenital disorder of glycosylation
  • p.Cys340= Single submitter ALG8-congenital disorder of glycosylation
  • p.Glu452= Single submitter ALG8-congenital disorder of glycosylation
  • p.His93Arg Single submitter Inborn genetic diseases
  • p.Ile389Val Single submitter Inborn genetic diseases
  • p.Leu145= Single submitter ALG8-congenital disorder of glycosylation
  • p.Leu195= Single submitter
  • p.Leu247= Single submitter ALG8-congenital disorder of glycosylation
  • p.Leu253= Single submitter ALG8-congenital disorder of glycosylation
  • p.Leu28= Single submitter
  • p.Leu409= Single submitter ALG8-congenital disorder of glycosylation
  • p.Leu467= Single submitter
  • p.Phe153= Single submitter ALG8-congenital disorder of glycosylation
  • p.Phe168= Single submitter ALG8-congenital disorder of glycosylation
  • p.Phe462= Single submitter ALG8-congenital disorder of glycosylation
  • p.Phe489= Single submitter ALG8-congenital disorder of glycosylation
  • p.Ser109= Single submitter ALG8-congenital disorder of glycosylation
  • p.Ser331= Single submitter ALG8-congenital disorder of glycosylation
  • p.Ser372= Single submitter ALG8-congenital disorder of glycosylation
  • p.Ser443= Single submitter ALG8-congenital disorder of glycosylation
  • p.Ser518= Single submitter ALG8-congenital disorder of glycosylation
  • p.Thr47= Single submitter
  • p.Thr481= Single submitter ALG8-congenital disorder of glycosylation
  • p.Thr495= Single submitter ALG8-congenital disorder of glycosylation
  • p.Thr64= Single submitter ALG8-congenital disorder of glycosylation
  • p.Val115= Single submitter ALG8-congenital disorder of glycosylation
  • p.Val118= Single submitter ALG8-congenital disorder of glycosylation
  • p.Val147= Single submitter ALG8-congenital disorder of glycosylation
  • p.Val21= Single submitter ALG8-congenital disorder of glycosylation
  • p.Val245= Single submitter
  • p.Val497= Single submitter ALG8-congenital disorder of glycosylation
  • p.Asp86= No assertion criteria ALG8-related disorder
  • p.Ser404= No assertion criteria ALG8-related disorder

Uncertain significance 212

  • c.1349+5T>C Multiple submitters ALG8-congenital disorder of glycosylation
  • c.1350-3C>T Multiple submitters polycystic liver disease 3 with or without kidney cysts
  • c.-7C>T Multiple submitters ALG8-congenital disorder of glycosylation
  • p.Ala206Thr Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Ala250Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala258Thr Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Ala388Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala403Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala424Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala519Val Multiple submitters polycystic liver disease 3 with or without kidney cysts ⚠
  • p.Ala72Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg184Ser Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Arg215Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg237His Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Arg364Gln Multiple submitters polycystic liver disease 3 with or without kidney cysts ⚠
  • p.Gly130Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gly154Arg Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Gly300Ser Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.His33Tyr Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Ile128Val Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Ile144Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ile161Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile299= Multiple submitters ALG8-congenital disorder of glycosylation
  • p.Ile343Thr Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Ile429Val Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Ile431Met Multiple submitters polycystic liver disease 3 with or without kidney cysts ⚠
  • p.Ile46Val Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Ile503Val Multiple submitters polycystic liver disease 3 with or without kidney cysts ⚠
  • p.Leu149His Multiple submitters Inborn genetic diseases ⚠
  • p.Leu390Ile Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Met113Val Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Met186Ile Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Met375Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met392Ile Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Pro334Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro425Gln Multiple submitters ALG8-related disorder ⚠
  • p.Ser146Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser373Pro Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Ser443Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Thr327Arg Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Thr461Ala Multiple submitters ⚠
  • p.Thr47Ser Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • p.Thr64Met Multiple submitters polycystic liver disease 3 with or without kidney cysts ⚠
  • p.Val110Ile Multiple submitters ALG8-congenital disorder of glycosylation ⚠
  • c.1277-7T>G Single submitter ALG8-congenital disorder of glycosylation
  • c.478+6C>T Single submitter ALG8-congenital disorder of glycosylation
  • c.479-3C>G Single submitter ALG8-congenital disorder of glycosylation
  • c.546+5A>G Single submitter ALG8-congenital disorder of glycosylation
  • c.674-20A>C Single submitter ALG8-congenital disorder of glycosylation
  • c.777+6C>T Single submitter ALG8-congenital disorder of glycosylation
  • c.778-3C>A Single submitter ALG8-congenital disorder of glycosylation
  • c.898+3A>G Single submitter ALG8-congenital disorder of glycosylation
  • c.898+6G>C Single submitter ALG8-congenital disorder of glycosylation
  • c.898+9G>A Single submitter ALG8-congenital disorder of glycosylation
  • c.899-13A>T Single submitter ALG8-congenital disorder of glycosylation
  • c.899-7T>C Single submitter ALG8-congenital disorder of glycosylation
  • c.95+5G>C Single submitter ALG8-congenital disorder of glycosylation
  • c.95+7G>T Single submitter ALG8-congenital disorder of glycosylation
  • c.95+8_95+23del Single submitter ALG8-congenital disorder of glycosylation
  • c.96-12del Single submitter
  • c.96-18T>A Single submitter ALG8-congenital disorder of glycosylation
  • c.-5C>T Single submitter ALG8-congenital disorder of glycosylation
  • p.Ala16Val Single submitter Inborn genetic diseases ⚠
  • p.Ala18Ser Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ala18Thr Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ala193Thr Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ala208Thr Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ala208Val Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ala287Thr Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ala2Ser Single submitter ⚠
  • p.Ala3Thr Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ala7Thr Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Arg107Ile Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Arg122Cys Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Arg215Pro Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Arg229Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg237Cys Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Arg237Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg268Leu Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Arg274Lys Single submitter ⚠
  • p.Arg450Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn12Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn12Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asn284Lys Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Asn309Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn457Asp Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Asp293Asn Single submitter ⚠
  • p.Asp86Asn Single submitter Inborn genetic diseases ⚠
  • p.Cys127Ser Single submitter Inborn genetic diseases ⚠
  • p.Cys26Trp Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Cys277Ser Single submitter ALG8-congenital disorder of glycosylation
  • p.Cys351Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys365Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys365Tyr Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Gln164Arg Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Gln164His Single submitter Inborn genetic diseases ⚠
  • p.Gln264Glu Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Gln526Ter Single submitter ALG8-congenital disorder of glycosylation
  • p.Glu471Ter Single submitter
  • p.Glu75Gln Single submitter Inborn genetic diseases ⚠
  • p.Gly20Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly226= Single submitter ALG8-congenital disorder of glycosylation
  • p.Gly254Asp Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Gly275Val Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Gly358Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly9Asp Single submitter Inborn genetic diseases ⚠
  • p.His185Arg Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.His200Arg Single submitter polycystic liver disease 3 with or without kidney cysts ⚠
  • p.His326Gln Single submitter Inborn genetic diseases ⚠
  • p.His326Tyr Single submitter Inborn genetic diseases ⚠
  • p.His48Arg Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.His48Gln Single submitter ⚠
  • p.Ile111Val Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ile157Val Single submitter ⚠
  • p.Ile239Thr Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ile29Thr Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ile345Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile408Phe Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ile77Met Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ile77Thr Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Leu116Phe Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Leu149Arg Single submitter ⚠
  • p.Leu149Pro Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Leu203Arg Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Leu253Met Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Leu253Ser Single submitter polycystic liver disease 3 with or without kidney cysts ⚠
  • p.Leu253Val Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Leu257= Single submitter ALG8-congenital disorder of glycosylation
  • p.Leu257Arg Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Leu257Val Single submitter Inborn genetic diseases ⚠
  • p.Leu269Pro Single submitter polycystic liver disease 3 with or without kidney cysts ⚠
  • p.Leu296Met Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Leu301Phe Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Leu303Trp Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Leu338Phe Single submitter ⚠
  • p.Leu387Pro Single submitter ⚠
  • p.Leu395Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu433Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu445_Lys446insHisValThrIleHisHisIleTer Single submitter ALG8-congenital disorder of glycosylation
  • p.Leu465Phe Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Leu515Ser Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Lys131Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys199Asn Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Lys223Asn Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Lys25Asn Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Lys451Ile Single submitter Inborn genetic diseases ⚠
  • p.Lys522Gln Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Met173Val Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Met392Lys Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Met434Arg Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Phe190Val Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Phe270Leu Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Phe270Ser Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Phe272Leu Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Phe449= Single submitter ALG8-congenital disorder of glycosylation
  • p.Phe462Val Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Phe489fs Single submitter polycystic liver disease 3 with or without kidney cysts
  • p.Pro207Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro224Gln Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Pro263Ala Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Pro271Leu Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Pro308Ser Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Pro334Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro419Leu Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Pro479Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro479Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro488Arg Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Pro491Leu Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ser146= Single submitter ALG8-congenital disorder of glycosylation
  • p.Ser216Cys Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ser234Asn Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ser240Phe Single submitter ⚠
  • p.Ser252Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser267Pro Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ser348Pro Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Ser373Ala Single submitter ⚠
  • p.Ser393Asn Single submitter ⚠
  • p.Thr138Ile Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Thr35Ala Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Thr35Ile Single submitter ⚠
  • p.Thr438Ala Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Thr461Ser Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Thr481Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr504Arg Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Trp281Cys Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Trp63Arg Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Tyr119His Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Tyr204Cys Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Tyr212Cys Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Tyr289Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr463Cys Single submitter ALG8-related disorder ⚠
  • p.Val133Met Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Val147Gly Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Val147Leu Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Val205= Single submitter
  • p.Val245Ile Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Val248Ala Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Val265Ile Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Val295Met Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Val298Ile Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Val321Ile Single submitter Inborn genetic diseases ⚠
  • p.Val328Ile Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Val332Leu Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Val39Leu Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Val477Leu Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Val485Met Single submitter ALG8-congenital disorder of glycosylation ⚠
  • p.Val514Ile Single submitter ALG8-congenital disorder of glycosylation ⚠
  • c.478+3A>G No assertion criteria autosomal dominant polycystic liver disease
  • p.Asn284Ser No assertion criteria ⚠
  • p.Phe143Cys No assertion criteria ALG8-related disorder ⚠
  • p.Pro271Ser No assertion criteria ⚠
  • p.Thr47dup No assertion criteria