Sugi Variant

Sugi Variant/ALG1

ALG1 — 876 ClinVar variants

All ClinVar germline ALG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 288 flagged for review →

52 Pathogenic · 20 Pathogenic/Likely pathogenic · 40 Likely pathogenic · 37 Conflicting · 40 Benign · 13 Benign/Likely benign · 392 Likely benign · 282 Uncertain significance

Full ALG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 288

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 11

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

Predictors lean, ClinVar uncertain 116

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

Predictors split 158

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 158

All ALG1 variants

Pathogenic 52

  • c.1187+2T>C Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Arg438Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Cys5Ter Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Leu366fs Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Ser359Leu Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • c.1073-2A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.1263+2T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.740_740+5delinsTGTAGA Single submitter ALG1-congenital disorder of glycosylation
  • p.Ala31fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Arg247fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Arg30fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Asn171fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Asp155fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Asp264fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Cys365Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Cys390Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Gln102fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Gln230Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Gln419Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Gln79Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Glu262fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Glu300Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Glu351Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly134fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly22_Trp23insTer Single submitter
  • p.Gly238fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Ile163fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Leu227fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Leu237fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Leu307fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Leu355fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Leu366Gln Single submitter ALG1-congenital disorder of glycosylation
  • p.Phe244fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Phe292fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Phe394Leu Single submitter ALG1-congenital disorder of glycosylation
  • p.Pro133fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Pro324fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Pro98Leu Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ser150Arg Single submitter ALG1-congenital disorder of glycosylation
  • p.Ser248Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Ser413Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Ser4Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Ser62Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Trp156fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Trp207Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Trp26Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Trp347Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Tyr103Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Tyr181Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Tyr215Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Val107fs Single submitter ALG1-congenital disorder of glycosylation
  • p.Cys396Ter No assertion criteria ALG1-congenital disorder of glycosylation

Pathogenic/Likely pathogenic 20

  • c.1187+1G>A Multiple submitters ALG1-congenital disorder of glycosylation
  • c.1188-2A>G Multiple submitters ALG1-congenital disorder of glycosylation
  • c.539+1G>A Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Ala360Val Multiple submitters Inborn genetic diseases
  • p.Ala418fs Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Arg200Ter Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Arg276Trp Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Arg99Ter Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Gln102Ter Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Gln342Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Gln421= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Gln421Ter Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Glu275Ter Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Met382Thr Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Ser258Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser330fs Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Ser71Phe Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Tyr113Ter Multiple submitters ALG1-related disorder
  • p.Tyr353Ter Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Val281Phe Multiple submitters ALG1-congenital disorder of glycosylation ⚠

Likely pathogenic 40

  • c.209-2A>G Multiple submitters ALG1-congenital disorder of glycosylation
  • c.539_539+1delinsTC Multiple submitters ALG1-congenital disorder of glycosylation
  • c.630-2A>G Multiple submitters ALG1-congenital disorder of glycosylation
  • c.863-2A>G Multiple submitters ALG1-congenital disorder of glycosylation
  • c.901+1G>A Multiple submitters ALG1-congenital disorder of glycosylation
  • c.961+1G>A Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Asp289Gly Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Met382Val Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Pro388Leu Multiple submitters ALG1-congenital disorder of glycosylation
  • c.1072+1G>T Single submitter ALG1-congenital disorder of glycosylation
  • c.1073-1G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.1188-1G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.1264-2A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.208+1G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.208+25G>T Single submitter ALG1-congenital disorder of glycosylation
  • c.209-2A>T Single submitter ALG1-congenital disorder of glycosylation
  • c.287-12_289del Single submitter ALG1-congenital disorder of glycosylation
  • c.287-1G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.391-2A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.540-2A>T Single submitter ALG1-congenital disorder of glycosylation
  • c.740+1G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.741-1G>T Single submitter ALG1-congenital disorder of glycosylation
  • c.741-2A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.863-1G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.902-1G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.961+1G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.961+1G>T Single submitter ALG1-congenital disorder of glycosylation
  • p.Glu288fs Single submitter
  • p.Met1Val Single submitter ALG1-congenital disorder of glycosylation
  • p.Phe292Leu Single submitter ALG1-congenital disorder of glycosylation
  • p.Pro98Ser Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ser293Pro Single submitter ALG1-congenital disorder of glycosylation
  • c.209-1G>C No assertion criteria congenital disorder of glycosylation
  • p.Cys385fs No assertion criteria ALG1-related disorder
  • p.Gly363Ala No assertion criteria congenital disorder of glycosylation
  • p.His367Gln No assertion criteria congenital disorder of glycosylation
  • p.Ile209Ser No assertion criteria congenital disorder of glycosylation
  • p.Leu114Phe No assertion criteria congenital disorder of glycosylation ⚠
  • p.Met382Lys No assertion criteria congenital disorder of glycosylation
  • p.Phe427Cys No assertion criteria ALG1-congenital disorder of glycosylation

Conflicting classifications of pathogenicity 37

  • c.1187+3A>G Single submitter ALG1-related disorder
  • c.741-9C>T Single submitter ALG1-congenital disorder of glycosylation
  • p.Ala32Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala431Val Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Arg187His Single submitter Inborn genetic diseases ⚠
  • p.Arg247Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg263Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg272His Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Arg276Gln Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Arg331= Single submitter ALG1-congenital disorder of glycosylation
  • p.Arg331Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg448Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Asn311Ser Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asp228Tyr Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Cys12_Leu17dup Single submitter ALG1-congenital disorder of glycosylation
  • p.Gln436Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Glu256Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly145Asp Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Gly268Arg Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Gly358Arg Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Gly384Arg Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Leu174= Single submitter ALG1-congenital disorder of glycosylation
  • p.Leu6Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu8= Single submitter ALG1-congenital disorder of glycosylation
  • p.Leu88Val Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Met382Ile Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Pro218Ser Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Pro346Arg Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Pro346Thr Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Pro388Ser Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ser239Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser71Cys Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Tyr353Asp Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Val281= Single submitter ALG1-congenital disorder of glycosylation
  • p.Val316Ile Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Val39fs Single submitter ALG1-related disorder
  • p.Val7Ile Single submitter ALG1-congenital disorder of glycosylation ⚠

Benign 40

Benign/Likely benign 13

  • c.390+13C>A Multiple submitters ALG1-congenital disorder of glycosylation
  • c.539+16G>A Multiple submitters ALG1-congenital disorder of glycosylation
  • c.629+20C>T Multiple submitters ALG1-congenital disorder of glycosylation
  • c.630-19C>T Multiple submitters ALG1-congenital disorder of glycosylation
  • c.741-13del Multiple submitters ALG1-congenital disorder of glycosylation
  • c.902-20G>A Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Ala3Asp Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Arg274His Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Asn393Lys Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Leu408= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Phe185Cys Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Ser267Asn Multiple submitters Kabuki syndrome 1 ⚠
  • p.Val364= Multiple submitters ALG1-congenital disorder of glycosylation

Likely benign 392

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

  • c.1263+18C>T Multiple submitters ALG1-congenital disorder of glycosylation
  • c.1263+8C>T Multiple submitters ALG1-congenital disorder of glycosylation
  • c.1264-199C>T Multiple submitters
  • c.1264-9T>A Multiple submitters ALG1-congenital disorder of glycosylation
  • c.286+10C>T Multiple submitters ALG1-congenital disorder of glycosylation
  • c.286+15A>C Multiple submitters ALG1-congenital disorder of glycosylation
  • c.391-13C>G Multiple submitters ALG1-congenital disorder of glycosylation
  • c.391-15C>G Multiple submitters ALG1-congenital disorder of glycosylation
  • c.539+69A>G Multiple submitters
  • c.540-12C>G Multiple submitters ALG1-congenital disorder of glycosylation
  • c.540-13T>C Multiple submitters ALG1-congenital disorder of glycosylation
  • c.630-18G>A Multiple submitters ALG1-congenital disorder of glycosylation
  • c.741-13T>C Multiple submitters ALG1-congenital disorder of glycosylation
  • c.863-14T>C Multiple submitters ALG1-congenital disorder of glycosylation
  • c.863-15A>C Multiple submitters ALG1-congenital disorder of glycosylation
  • c.863-15A>G Multiple submitters ALG1-congenital disorder of glycosylation
  • c.901+46A>C Multiple submitters
  • c.961+19G>A Multiple submitters ALG1-congenital disorder of glycosylation
  • c.961+8C>G Multiple submitters ALG1-congenital disorder of glycosylation
  • c.*28G>A Multiple submitters
  • p.Ala350= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Arg326= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Asp216= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Asp289= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Glu443= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Gly160= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Leu296= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Leu362= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Leu9= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Phe128= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Phe427= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Ser242= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Ser267= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Ser444= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Thr213= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Tyr103= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Tyr159= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Val380= Multiple submitters ALG1-congenital disorder of glycosylation
  • c.1072+11A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.1072+12G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.1072+13C>A Single submitter ALG1-congenital disorder of glycosylation
  • c.1072+13C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.1072+14A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.1072+16G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.1072+20C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.1072+20C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.1072+47T>G Single submitter
  • c.1072+8G>T Single submitter ALG1-congenital disorder of glycosylation
  • c.1073-12_1073-11del Single submitter ALG1-congenital disorder of glycosylation
  • c.1073-14C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.1073-19C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.1073-20C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.1073-84G>T Single submitter
  • c.1187+12A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.1187+13C>A Single submitter ALG1-congenital disorder of glycosylation
  • c.1187+14C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.1187+15C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.1187+17A>C Single submitter ALG1-congenital disorder of glycosylation
  • c.1187+204A>G Single submitter
  • c.1187+7G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.1187+9A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.1188-10C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.1188-13G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.1188-14G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.1188-17C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.1188-19C>A Single submitter ALG1-congenital disorder of glycosylation
  • c.1188-4G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.1188-8C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.1188-8C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.1263+10T>G Single submitter ALG1-congenital disorder of glycosylation
  • c.1263+125G>A Single submitter
  • c.1263+13G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.1263+14C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.1263+15C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.1263+16A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.1263+17C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.1263+208dup Single submitter
  • c.1263+20C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.1263+268G>A Single submitter
  • c.1263+8C>A Single submitter ALG1-congenital disorder of glycosylation
  • c.1263+9G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.1264-10T>G Single submitter ALG1-congenital disorder of glycosylation
  • c.1264-12_1264-6del Single submitter ALG1-congenital disorder of glycosylation
  • c.1264-12A>T Single submitter ALG1-congenital disorder of glycosylation
  • c.1264-152G>C Single submitter
  • c.1264-16C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.1264-16C>T Single submitter
  • c.1264-17del Single submitter ALG1-congenital disorder of glycosylation
  • c.1264-17T>A Single submitter ALG1-congenital disorder of glycosylation
  • c.1264-18C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.1264-4G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.208+13_208+14delinsAGGTCT Single submitter
  • c.208+13G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.208+17_208+18insCGTC Single submitter ALG1-congenital disorder of glycosylation
  • c.208+18_208+19insATCT Single submitter ALG1-congenital disorder of glycosylation
  • c.208+19_208+20insTTTG Single submitter ALG1-congenital disorder of glycosylation
  • c.208+19G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.209-10C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.209-12C>A Single submitter ALG1-congenital disorder of glycosylation
  • c.209-14T>A Single submitter ALG1-congenital disorder of glycosylation
  • c.209-14T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.209-15A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.209-16C>A Single submitter ALG1-congenital disorder of glycosylation
  • c.209-16C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.209-18A>C Single submitter ALG1-congenital disorder of glycosylation
  • c.209-20G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.209-4T>A Single submitter ALG1-congenital disorder of glycosylation
  • c.286+10C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.286+11G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.286+13C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.286+15A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.286+16C>A Single submitter ALG1-congenital disorder of glycosylation
  • c.286+16C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.286+20A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.286+8G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.286+8G>T Single submitter ALG1-congenital disorder of glycosylation
  • c.287-10T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.287-12T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.287-18G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.287-19G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.287-20A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.287-9G>T Single submitter ALG1-congenital disorder of glycosylation
  • c.390+11G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.390+11G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.390+13C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.390+15C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.390+17G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.390+18C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.390+19C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.390+207C>G Single submitter
  • c.390+46T>A Single submitter
  • c.390+9C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.391-11A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.391-12T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.391-13C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.391-15C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.391-16T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.391-17G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.391-20C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.391-20C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.391-40G>C Single submitter
  • c.391-4C>A Single submitter ALG1-congenital disorder of glycosylation
  • c.391-5C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.539+10T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.539+15A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.539+19G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.539+20G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.539+7G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.539+7G>T Single submitter ALG1-congenital disorder of glycosylation
  • c.540-14A>T Single submitter ALG1-congenital disorder of glycosylation
  • c.540-15G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.540-20C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.540-7T>G Single submitter ALG1-congenital disorder of glycosylation
  • c.540-8C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.629+11C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.629+11C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.629+13G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.629+166G>A Single submitter
  • c.629+16A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.629+17_629+32dup Single submitter ALG1-congenital disorder of glycosylation
  • c.629+17T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.629+19A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.629+20_629+34del Single submitter ALG1-congenital disorder of glycosylation
  • c.629+7T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.629+9G>T Single submitter ALG1-congenital disorder of glycosylation
  • c.630-10T>A Single submitter ALG1-congenital disorder of glycosylation
  • c.630-13G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.630-13G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.630-16C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.630-18G>T Single submitter ALG1-congenital disorder of glycosylation
  • c.630-19C>A Single submitter ALG1-congenital disorder of glycosylation
  • c.630-20C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.630-5T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.630-7A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.740+10C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.740+16T>A Single submitter ALG1-congenital disorder of glycosylation
  • c.740+191C>T Single submitter
  • c.740+20C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.741-12C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.741-12dup Single submitter ALG1-congenital disorder of glycosylation
  • c.741-15T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.741-17T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.741-20C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.741-6C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.741-89C>A Single submitter
  • c.741-8T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.862+10_862+18del Single submitter ALG1-congenital disorder of glycosylation
  • c.862+12C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.862+13C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.862+13C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.863-10C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.863-12C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.863-15A>T Single submitter ALG1-congenital disorder of glycosylation
  • c.863-17C>A Single submitter ALG1-congenital disorder of glycosylation
  • c.863-17C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.863-8T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.901+11G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.901+13C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.901+16C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.901+17G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.901+18G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.901+18G>T Single submitter ALG1-congenital disorder of glycosylation
  • c.901+20G>T Single submitter ALG1-congenital disorder of glycosylation
  • c.902-103C>T Single submitter
  • c.902-10C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.902-12T>A Single submitter ALG1-congenital disorder of glycosylation
  • c.902-16C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.902-17T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.902-20G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.902-47del Single submitter
  • c.902-5C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.902-8A>G Single submitter ALG1-congenital disorder of glycosylation
  • c.961+14C>A Single submitter ALG1-congenital disorder of glycosylation
  • c.961+14C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.961+16C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.961+19G>T Single submitter ALG1-congenital disorder of glycosylation
  • c.961+20G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.961+242TTG[2] Single submitter
  • c.961+281_961+282dup Single submitter
  • c.961+8C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.961+9T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.962-10C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.962-12T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.962-18C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.962-20G>A Single submitter ALG1-congenital disorder of glycosylation
  • c.962-237C>T Single submitter
  • c.962-6G>T Single submitter ALG1-congenital disorder of glycosylation
  • c.962-74G>A Single submitter
  • c.*275G>T Single submitter
  • p.Ala178= Single submitter ALG1-congenital disorder of glycosylation
  • p.Ala2= Single submitter ALG1-congenital disorder of glycosylation
  • p.Ala204= Single submitter ALG1-congenital disorder of glycosylation
  • p.Ala219= Single submitter ALG1-congenital disorder of glycosylation
  • p.Ala278= Single submitter ALG1-congenital disorder of glycosylation
  • p.Ala3= Single submitter ALG1-congenital disorder of glycosylation
  • p.Ala31Val Single submitter Inborn genetic diseases
  • p.Ala32= Single submitter ALG1-congenital disorder of glycosylation
  • p.Ala360= Single submitter ALG1-congenital disorder of glycosylation
  • p.Ala57= Single submitter ALG1-congenital disorder of glycosylation
  • p.Arg121= Single submitter ALG1-congenital disorder of glycosylation
  • p.Arg232= Single submitter ALG1-congenital disorder of glycosylation
  • p.Arg232Trp Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Arg25= Single submitter ALG1-congenital disorder of glycosylation
  • p.Arg276= Single submitter ALG1-congenital disorder of glycosylation
  • p.Arg30= Single submitter ALG1-congenital disorder of glycosylation
  • p.Arg33= Single submitter ALG1-congenital disorder of glycosylation
  • p.Arg438= Single submitter ALG1-congenital disorder of glycosylation
  • p.Arg442= Single submitter ALG1-congenital disorder of glycosylation
  • p.Arg448= Single submitter ALG1-congenital disorder of glycosylation
  • p.Arg45= Single submitter ALG1-congenital disorder of glycosylation
  • p.Arg82= Single submitter ALG1-congenital disorder of glycosylation
  • p.Asn131= Single submitter ALG1-congenital disorder of glycosylation
  • p.Asn406= Single submitter
  • p.Asn70= Single submitter ALG1-congenital disorder of glycosylation
  • p.Asp228= Single submitter ALG1-congenital disorder of glycosylation
  • p.Asp252= Single submitter ALG1-congenital disorder of glycosylation
  • p.Asp264= Single submitter ALG1-congenital disorder of glycosylation
  • p.Asp381= Single submitter ALG1-congenital disorder of glycosylation
  • p.Asp412= Single submitter ALG1-congenital disorder of glycosylation
  • p.Asp429= Single submitter
  • p.Asp463= Single submitter ALG1-congenital disorder of glycosylation
  • p.Cys148= Single submitter ALG1-congenital disorder of glycosylation
  • p.Cys317= Single submitter ALG1-congenital disorder of glycosylation
  • p.Cys344= Single submitter ALG1-congenital disorder of glycosylation
  • p.Cys5= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gln304= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gln445= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gln455= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gln50= Single submitter ALG1-congenital disorder of glycosylation
  • p.Glu122= Single submitter ALG1-congenital disorder of glycosylation
  • p.Glu224= Single submitter ALG1-congenital disorder of glycosylation
  • p.Glu256= Single submitter ALG1-congenital disorder of glycosylation
  • p.Glu327= Single submitter ALG1-congenital disorder of glycosylation
  • p.Glu451= Single submitter ALG1-congenital disorder of glycosylation
  • p.Glu76= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly104= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly124= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly169= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly186= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly238= Single submitter
  • p.Gly29= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly309= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly323= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly363= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly41= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly44= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly67= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly87= Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly87Arg Single submitter ALG1-congenital disorder of glycosylation
  • p.His208= Single submitter ALG1-congenital disorder of glycosylation
  • p.His310= Single submitter ALG1-congenital disorder of glycosylation
  • p.His334= Single submitter ALG1-congenital disorder of glycosylation
  • p.His34= Single submitter ALG1-congenital disorder of glycosylation
  • p.His367= Single submitter ALG1-congenital disorder of glycosylation
  • p.His74Leu Single submitter ALG1-congenital disorder of glycosylation
  • p.Ile163= Single submitter ALG1-congenital disorder of glycosylation
  • p.Ile333= Single submitter ALG1-congenital disorder of glycosylation
  • p.Ile341= Single submitter ALG1-congenital disorder of glycosylation
  • p.Leu114= Single submitter ALG1-congenital disorder of glycosylation
  • p.Leu129= Single submitter ALG1-congenital disorder of glycosylation

Uncertain significance 282

  • c.1264-11T>G Multiple submitters ALG1-congenital disorder of glycosylation
  • c.208+19_208+20insTATG Multiple submitters ALG1-congenital disorder of glycosylation
  • c.390+5G>A Multiple submitters ALG1-congenital disorder of glycosylation
  • c.539+3G>C Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Ala10Glu Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Ala139Ser Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Ala278Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala350Thr Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Ala431= Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Ala95Val Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Arg187Cys Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Arg257Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg257Trp Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Arg263Gln Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Arg272Cys Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Arg274Cys Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Arg33Trp Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Arg442Gln Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Arg442Trp Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Arg448Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg99Gln Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Asn192Ser Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Asn311Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn80His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp252Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp264Val Multiple submitters Inborn genetic diseases ⚠
  • p.Asp412Asn Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Asp450Asn Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Asp450Gly Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Asp463Tyr Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Cys148Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Cys317Phe Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Cys5Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu182Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Glu201Ala Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Glu288Gly Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Gly134Ala Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Gly67Val Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.His172Asn Multiple submitters Inborn genetic diseases ⚠
  • p.His334Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His398Arg Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.His59Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile294Leu Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Leu15_Pro16insAlaLeuCysLeuLeuLeu Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Leu188Met Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Leu203Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu20dup Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Leu273Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu279Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu280Met Multiple submitters Inborn genetic diseases ⚠
  • p.Leu307Val Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Leu315Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu356Val Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Lys301Gln Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Lys301Glu Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Lys322Arg Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Lys439Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys72Ile Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Met112Thr Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Met462Thr Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Phe68Tyr Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Pro16Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro173Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro243Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro430Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro459Leu Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Ser293Cys Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Ser314Phe Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Ser444Leu Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Ter465Gln Multiple submitters ALG1-congenital disorder of glycosylation
  • p.Thr255Met Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Thr261Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr271Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr284Met Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Thr368Met Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Val144Met Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Val153Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val175Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val389Ala Multiple submitters ALG1-congenital disorder of glycosylation ⚠
  • p.Val7Gly Multiple submitters Inborn genetic diseases ⚠
  • c.1264-3C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.287-7C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.390+3G>T Single submitter ALG1-congenital disorder of glycosylation
  • c.390+6T>G Single submitter ALG1-congenital disorder of glycosylation
  • c.539+5G>C Single submitter ALG1-congenital disorder of glycosylation
  • c.539+9C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.540-19T>A Single submitter ALG1-congenital disorder of glycosylation
  • c.629+12T>A Single submitter ALG1-congenital disorder of glycosylation
  • c.629+4C>A Single submitter Inborn genetic diseases
  • c.740+6C>T Single submitter ALG1-congenital disorder of glycosylation
  • c.863-11T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.863-3T>A Single submitter ALG1-congenital disorder of glycosylation
  • c.863-3T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.901+5G>T Single submitter ALG1-congenital disorder of glycosylation
  • c.901+6T>C Single submitter ALG1-congenital disorder of glycosylation
  • c.961+4C>G Single submitter ALG1-congenital disorder of glycosylation
  • c.961+6G>T Single submitter ALG1-congenital disorder of glycosylation
  • p.Ala10Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala111Val Single submitter Inborn genetic diseases ⚠
  • p.Ala139Thr Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ala198Gly Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ala204Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala204Val Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ala259Thr Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ala259Val Single submitter Inborn genetic diseases ⚠
  • p.Ala297Ser Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ala3Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala417Gly Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ala417Val Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ala418Ser Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ala431Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala57Ser Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ala95Thr Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Arg200Gln Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Arg245Gly Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Arg247Leu Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Arg25Cys Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Arg30Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg326Thr Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Arg99Gly Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asn197Lys Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asn197Ser Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asn197Thr Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asn311Asp Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asn80Asp Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asn80Lys Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asn80Ser Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asn81Lys Single submitter Inborn genetic diseases ⚠
  • p.Asp155Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp202Tyr Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asp216Asn Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asp216Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp228Gly Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asp291Glu Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asp291Gly Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asp291Val Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asp352Glu Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asp352Val Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asp361Tyr Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asp374Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp412His Single submitter ⚠
  • p.Asp429_Pro430delinsGluThr Single submitter ALG1-congenital disorder of glycosylation
  • p.Asp42Gly Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Asp75Glu Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Cys146Ser Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Cys194Arg Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Cys317Ser Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Cys365Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys390Gly Single submitter Inborn genetic diseases ⚠
  • p.Cys5Arg Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Gln102Pro Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Gln110His Single submitter Inborn genetic diseases ⚠
  • p.Gln339dup Single submitter ALG1-congenital disorder of glycosylation
  • p.Gln419His Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Gln455His Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Gln79His Single submitter Inborn genetic diseases ⚠
  • p.Gln92Pro Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Glu122Gln Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Glu182Lys Single submitter ⚠
  • p.Glu201Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu224Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu275Gln Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Glu300Gly Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Glu327Lys Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Glu351Lys Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Glu405del Single submitter ALG1-congenital disorder of glycosylation
  • p.Glu443Lys Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Glu451Ter Single submitter ALG1-congenital disorder of glycosylation
  • p.Gly104Arg Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Gly134Ser Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Gly165Ala Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Gly165Arg Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Gly165Val Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Gly169Asp Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Gly268Trp Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Gly321Arg Single submitter ⚠
  • p.Gly358Ala Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Gly41Arg Single submitter Inborn genetic diseases ⚠
  • p.His168Tyr Single submitter ⚠
  • p.His172Gln Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.His172Tyr Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.His190Asn Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.His231Gln Single submitter ⚠
  • p.His403Pro Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ile154Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile163Phe Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ile85Met Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ile85Phe Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ile85Thr Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Leu147His Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Leu174Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu177Val Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Leu227Val Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Leu233Val Single submitter Inborn genetic diseases ⚠
  • p.Leu273Ile Single submitter ⚠
  • p.Leu296Met Single submitter Inborn genetic diseases ⚠
  • p.Leu307Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu307Pro Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Leu312Gln Single submitter ALG1-congenital disorder of glycosylation
  • p.Leu312Phe Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Leu332Val Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Leu348Arg Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Leu375Gln Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Leu400Arg Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Leu447Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu65Phe Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Leu8Val Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Lys106Thr Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Lys117Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys322Gln Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Lys322Ile Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Lys336Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys336Gln Single submitter Inborn genetic diseases ⚠
  • p.Lys395Arg Single submitter ⚠
  • p.Lys395Asn Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Lys395Met Single submitter ⚠
  • p.Met119Ile Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Met235Leu Single submitter Inborn genetic diseases ⚠
  • p.Met377Val Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Met422Thr Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Met58Thr Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Phe221Ser Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Pro123Arg Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Pro170Leu Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Pro218His Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Pro226Arg Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Pro250Ser Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Pro324Ala Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Pro324Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro354Arg Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Pro354His Single submitter congenital nephrotic syndrome, Finnish type ⚠
  • p.Pro354Ser Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Pro428Thr Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Pro98Ala Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ser150Asn Single submitter ⚠
  • p.Ser162Phe Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ser239= Single submitter ALG1-congenital disorder of glycosylation
  • p.Ser242Cys Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ser258_Arg263dup Single submitter ALG1-congenital disorder of glycosylation
  • p.Ser267Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser293del Single submitter ALG1-congenital disorder of glycosylation
  • p.Ser330Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser330Gly Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ser4Leu Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Ser62Trp Single submitter Inborn genetic diseases ⚠
  • p.Ser71Pro Single submitter ⚠
  • p.Ter465LeuextTer? Single submitter
  • p.Thr261Ala Single submitter ⚠
  • p.Thr261Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr345Ile Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Thr464Pro Single submitter Inborn genetic diseases ⚠
  • p.Thr64Ile Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Thr89Arg Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Trp156Cys Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Trp26Cys Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Trp347Leu Single submitter ⚠
  • p.Trp449Arg Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Trp449Cys Single submitter Inborn genetic diseases ⚠
  • p.Trp453Cys Single submitter ⚠
  • p.Trp453Leu Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Tyr126Cys Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Tyr126Phe Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Tyr161Cys Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Val100Leu Single submitter Inborn genetic diseases ⚠
  • p.Val167Met Single submitter Inborn genetic diseases ⚠
  • p.Val175Phe Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Val195Phe Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Val214Ile Single submitter Inborn genetic diseases ⚠
  • p.Val270_Pro277del Single submitter ALG1-congenital disorder of glycosylation
  • p.Val316Leu Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Val364Gly Single submitter ALG1-congenital disorder of glycosylation
  • p.Val364Ile Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Val379= Single submitter
  • p.Val379Gly Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Val389Met Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Val454Met Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Val457Met Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Val7Asp Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Val7Leu Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Val96Ala Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Val96Asp Single submitter ALG1-congenital disorder of glycosylation ⚠
  • p.Val96Gly Single submitter ALG1-congenital disorder of glycosylation ⚠