Sugi Variant

Sugi Variant/ALG6

ALG6 — 824 ClinVar variants

All ClinVar germline ALG6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 209 flagged for review →

40 Pathogenic · 34 Pathogenic/Likely pathogenic · 68 Likely pathogenic · 20 Conflicting · 38 Benign · 10 Benign/Likely benign · 354 Likely benign · 260 Uncertain significance

Full ALG6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 209

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 7

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

Predictors lean, ClinVar uncertain 114

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

Predictors split 88

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

All ALG6 variants

Pathogenic 40

  • p.Ala333Val Multiple submitters ALG6-related disorder
  • c.1326+1G>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.988-945_1059-3794del Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala192fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Arg437fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Cys133Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Cys212fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gln106Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gln165Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gln297Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gln417Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gln41Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Glu137Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gly162fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gly172fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gly269Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.His344fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ile118fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu148fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu151fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu214fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu23fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu97fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys410fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Phe242fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Phe325fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Phe49fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Trp176Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Trp279fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Trp56Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Trp94Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Tyr166Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Tyr57Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Tyr72fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Tyr85fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Val239fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Val358fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Val391fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Val447fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.167+5G>A No assertion criteria ALG6-congenital disorder of glycosylation 1C

Pathogenic/Likely pathogenic 34

  • c.1326+1G>A Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.257+2dup Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.257+5G>A Multiple submitters Fetal anomalies with a likely genetic cause
  • c.680+1G>A Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.680+2T>G Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.988-1G>A Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Ala84Thr Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Arg18Ter Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Asn283fs Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Asp267delinsGlyTer Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Gln417fs Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Gln464Ter Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Glu46Ter Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Gly222fs Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Ile299del Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Ile399fs Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Leu307Ter Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Leu334fs Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Leu416fs Multiple submitters ALG6-related disorder
  • p.Lys143fs Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Lys220Ter Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Met34fs Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Phe228fs Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Phe264fs Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Phe336fs Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Pro379fs Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Pro463fs Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Ser340fs Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Ser390fs Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Thr48_Phe49insTer Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Thr76fs Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Trp4Ter Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Tyr38Ter Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Val169fs Multiple submitters ALG6-congenital disorder of glycosylation 1C

Likely pathogenic 68

  • c.1128-1G>A Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.1128-2A>C Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.429+1G>T Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.495-2A>G Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.495-2A>T Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.82_82+8del Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.82+1G>A Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.902+1G>A Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Arg113Cys Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.1058+1G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1127+1G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.167+1G>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.168-1G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.168-2A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.257+1G>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.257+2T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.258-2A>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.258-9_267del Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.347-2A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.429+1G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.429+2T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.429+2T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.494+2T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.680+1del Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.680+1G>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.681-1G>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.816+1G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.83-1G>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.902+2dup Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.987+1G>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala77fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala96fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Cys194Tyr Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Cys218Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gln165fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gln258Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gln66Ter Single submitter
  • p.Glu137fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu117Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu179fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu298Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu316fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu316Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu338fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu338Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu359Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys224fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys224Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys274Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys289Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys31Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys88Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Phe219fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Phe398fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Pro354Leu Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ser170fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ser308Arg Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ser404fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ser478Pro Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Trp19Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Trp246fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Trp246Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Trp44Ter Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Tyr78fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Val372fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.430-2A>G No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • p.Met1Thr No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • p.Phe250fs No assertion criteria ALG6-congenital disorder of glycosylation 1C

Conflicting classifications of pathogenicity 20

  • c.1127+8A>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.167+7T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.430-9T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.816+10A>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.-207-12T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Arg113His Single submitter Inborn genetic diseases ⚠
  • p.Arg18Gln Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Arg294= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Cys303del Single submitter
  • p.Gly216= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gly227Glu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.His206= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ile150= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ile150Val Single submitter cystic kidney disease ⚠
  • p.Ile159Val Single submitter Inborn genetic diseases ⚠
  • p.Ile288Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ile317Thr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ile438= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu466= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys224Arg Single submitter Inborn genetic diseases ⚠

Benign 38

Benign/Likely benign 10

  • c.903-13A>G Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.987+12A>G Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.988-8dup Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Leu453Val Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Phe484= Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Ser304Phe Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Thr251Ala Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Tyr131His Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Tyr441= Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Val447= Multiple submitters ALG6-congenital disorder of glycosylation 1C

Likely benign 354

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

  • c.1059-8G>A Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.1128-13T>A Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.1128-18A>T Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.1326+44C>G Multiple submitters
  • c.258-15T>C Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.494+15T>C Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.902+19G>A Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.902+67T>C Multiple submitters
  • c.903-20G>T Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.903-23T>A Multiple submitters
  • c.-121T>G Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Asn481= Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.His344= Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Leu223= Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Ser321= Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.1058+16del Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1058+16T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1058+19A>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1058+7A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1059-20T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1059-4T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1059-7A>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1059-7A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1059-8G>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1059-8G>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1059-9C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1127+11T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1127+12C>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1127+14A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1127+18C>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1127+20A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1127+21T>A Single submitter
  • c.1127+8A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1127+9T>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1128-11T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1128-15A>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1128-19T>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1128-9C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1326+10A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1326+20A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1326+8C>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1326+8C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1327-12T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1327-13T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1327-15T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1327-16C>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1327-16C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1327-17C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1327-20A>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1327-4G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1327-5T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1327-8C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.167+148T>C Single submitter
  • c.167+14A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.167+15A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.167+19G>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.167+7del Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.167+8A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.168-15T>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.168-5T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.168-9C>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.168-9C>T Single submitter
  • c.257+11C>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.257+14del Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.257+15C>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.257+17T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.257+19A>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.258-13C>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.258-14G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.258-15T>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.258-16A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.258-18A>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.258-18A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.258-19T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.258-22G>A Single submitter
  • c.258-25T>C Single submitter
  • c.258-4G>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.258-4G>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.258-8A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.258-9G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.258-9G>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.346+10C>A Single submitter
  • c.346+11A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.346+12A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.346+13T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.346+15G>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.346+16G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.346+16G>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.346+20T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.346+8A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.347-14A>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.347-17T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.347-18A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.429+14C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.429+46T>C Single submitter
  • c.429+7T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.429+9T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.430-10G>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.430-18C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.430-19A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.495-10A>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.495-14T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.495-16C>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.495-4A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.495-6G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.495-8A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.680+10T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.680+11T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.680+12T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.680+14A>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.680+19C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.680+8del Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.681-16T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.681-17C>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.681-17C>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.681-19A>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.681-4_681-3insGTTTTTTTGTTTGTTT Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.681-8T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.816+11del Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.816+12C>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.816+14C>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.816+16T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.816+18C>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.816+19C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.816+8T>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.817-8C>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.82+12T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.82+13T>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.82+15C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.82+17G>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.82+18G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.82+19T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.82+30A>C Single submitter
  • c.82+7C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.82+8A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.82+9T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.83-10_83-6del Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.83-20C>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.83-8G>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.83-9T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.902+11_902+14del Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.902+123del Single submitter
  • c.902+12A>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.902+13A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.902+15G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.902+15G>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.902+7G>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.903-11T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.903-16T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.903-36A>G Single submitter
  • c.903-4T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.903-7T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.903-8T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.987+11C>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.987+14T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.987+36C>T Single submitter
  • c.988-13T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.988-14_988-13del Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.988-14C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.988-14dup Single submitter
  • c.988-15C>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.988-16C>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.988-16C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.988-17C>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.988-18C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.988-20C>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.988-20C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.988-5T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.988-7C>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.988-7dup Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.988-8T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.988-9T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.-196A>G Single submitter
  • c.-207-97T>C Single submitter
  • c.-207-9dup Single submitter
  • c.-208+115C>G Single submitter
  • c.-235_-217dup Single submitter
  • c.*1136C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*1415T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*1434T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*268C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*961C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala107= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala119= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala145= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala192= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala207= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala235= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala240= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala276= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala29= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala333= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala396= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala400= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala96= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Arg101= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Arg18= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Arg268= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Asn283Ser Single submitter Inborn genetic diseases
  • p.Asn50= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Asn502= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Asn64= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Asp120= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Asp160= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Asp184= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Asp273= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Asp71= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Asp93= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Cys149= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Cys185= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Cys212= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Cys236= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Cys245= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Cys401= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gln106= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gln258= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gln297= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gln41= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gln440= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gln503= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Glu254= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Glu409= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Glu414= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Glu46= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gly14= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gly177= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Gly222Asp Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Gly30= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.His163= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.His295= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.His43= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.His98= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ile288= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ile296= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ile362= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ile448= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ile492= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ile493= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu122= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu148= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu152= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu158= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu175= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu187= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu188= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu208= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu231= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu244= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu247= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu257= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu260= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu298= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu307= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu309= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu316= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu329= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu334= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu349= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu350= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu359= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu378= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu382= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu387= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu418= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu453= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu455= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu480= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu483= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu486= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu6= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu70= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu82= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Leu97= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys109= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys200= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys217= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys220= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys233= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys289= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys3= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys419= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys427= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Phe173= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Phe210= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Phe250= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Phe337= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Phe364= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Phe432= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Phe476= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Phe489= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Pro209= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Pro265= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Pro293= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Pro32= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Pro320= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Pro33= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Pro379= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Pro430= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Pro462= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Pro467= Single submitter ALG6-congenital disorder of glycosylation 1C

Uncertain significance 260

  • c.347-13C>G Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.681-5T>C Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • c.816+4T>G Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Arg101His Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Asn481Ser Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Cys212Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Cys280Tyr Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Cys431Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Gln165= Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Gln440Arg Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Glu345Gln Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Gly177Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ile197Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile314Met Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu12Phe Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu130Phe Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Met456Val Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Met494Thr Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Met7Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Phe489Val Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Pro379Ser Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Pro467Leu Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Pro52Leu Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ser499Asn Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ter508TyrextTer? Multiple submitters ALG6-congenital disorder of glycosylation 1C
  • p.Thr374Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Trp94Cys Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Tyr124Asp Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Tyr161Cys Multiple submitters ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Tyr166Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr166His Multiple submitters Inborn genetic diseases ⚠
  • p.Val402Ile Multiple submitters Inborn genetic diseases ⚠
  • c.1058+6T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1127+4A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1128-3C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1326+2dup Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.1326+6T>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.258-3C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.346+19G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.346+5A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.429+5G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.430-3C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.680+4A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.681-18C>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.681-5T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.681-6T>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.816+4T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.-120C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.-128C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.-141A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.-208+10T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*1004C>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*1137G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*1169G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*1238A>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*1313T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*1464A>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*152T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*174A>G Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*404T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*436T>C Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*454C>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*47A>T Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*670G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • c.*89G>A Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ala145Gly Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ala147Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala192Thr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ala207Ser Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ala207Thr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ala276Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala276Thr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ala333Gly Single submitter ⚠
  • p.Ala333Pro Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Arg101Cys Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Arg113Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Arg262del Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Arg268Cys Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Arg294Cys Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Arg294His Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Arg437Ile Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Arg501Gly Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Asn277Ser Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Asn91Ser Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Asp468His Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Asp71Gly Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Asp71Val Single submitter Inborn genetic diseases ⚠
  • p.Asp93Gly Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Cys149Ser Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Cys183Tyr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Cys185Arg Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Cys236Tyr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Cys356Arg Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Cys479Phe Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Gln201Arg Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Gln503Arg Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Glu137Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Glu2Asp Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Glu2Lys Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Glu415del Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Glu46Gly Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Gly172Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly225Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly36Asp Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.His108Asp Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.His344Arg Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.His43Asn Single submitter ⚠
  • p.His79del Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.His79Gln Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.His79Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ile13Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ile144Thr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ile157Ser Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ile159Thr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ile296Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ile314Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ile439Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ile448Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu110Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu15Gln Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu179Arg Single submitter ⚠
  • p.Leu188Gln Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu231Pro Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu244His Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu260Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu286Arg Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu359Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu371Phe Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu371Pro Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu380Ile Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu435Ile Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu442Ser Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu486Phe Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu486Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu51Ile Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Lys109Glu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Lys109Met Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Lys142Ile Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Lys143= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Lys143Thr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Lys226Met Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Lys274Glu Single submitter ⚠
  • p.Lys465Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys465Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys88Asn Single submitter ⚠
  • p.Met1Val Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Met202Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Met202Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Met34Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Met34Thr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Met34Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Met377Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Met456Thr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Met7Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Phe210Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Phe219Ser Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Phe228Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Phe242Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Phe242Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe282Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Phe306Ile Single submitter Inborn genetic diseases ⚠
  • p.Phe306Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Phe336Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe35Ile Single submitter ⚠
  • p.Phe35Ser Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Phe375Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Phe398Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Phe405Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe434Ile Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Phe482Val Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Phe484Tyr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Pro209Ser Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Pro248Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Pro248Thr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Pro265Gln Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Pro265Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Pro32Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Pro354Ser Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Pro363Thr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Pro467Ser Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Pro52= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Pro52Ser Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Pro73Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ser139Pro Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ser170Ile Single submitter ⚠
  • p.Ser281= Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Ser322Ala Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ser366Phe Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ser436Tyr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ser497Tyr Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ser507Asn Single submitter ⚠
  • p.Ser60Arg Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ser60Gly Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Thr140Ile Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Thr305Met Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Thr374Ile Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Thr393Lys Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Thr449Ser Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Thr454Met Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Thr459Ile Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Thr76Ile Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Thr8Arg Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Trp176Ser Single submitter Inborn genetic diseases ⚠
  • p.Trp44Arg Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Tyr441Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr5Cys Single submitter Inborn genetic diseases ⚠
  • p.Val178Ile Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Val238Ile Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Val238Phe Single submitter Inborn genetic diseases ⚠
  • p.Val239del Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Val243Ala Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Val243Ile Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Val275Ile Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Val351Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Val351Met Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Val451Leu Single submitter Inborn genetic diseases ⚠
  • p.Val458fs Single submitter ALG6-congenital disorder of glycosylation 1C
  • p.Val472Ile Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Val472Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Val477Leu Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Val86Met Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Val9Ala Single submitter ALG6-congenital disorder of glycosylation 1C ⚠
  • c.1058+4dup No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • c.346+7G>C No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • c.680+5G>A No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • c.816+3A>G No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • c.817-8C>A No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • c.83-9T>C No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • c.987+5G>A No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • p.156_157LI[1] No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • p.Ala276Val No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Arg261Gly No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Asn490_Ile491del No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • p.Asn64del No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • p.Asn64Ser No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Gly180Val No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Gly227Arg No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.His295Arg No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ile157Thr No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ile197Leu No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ile423Leu No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ile493dup No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • p.Leu214Ser No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu263Arg No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Leu387Pro No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Lys289Thr No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Met377Thr No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Met456del No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • p.Phe398_Ala400delinsSer No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • p.Pro389= No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • p.Pro467fs No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • p.Pro92Leu No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Pro92Ser No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ser347Tyr No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Ser80= No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • p.Thr394= No assertion criteria ALG6-congenital disorder of glycosylation 1C
  • p.Val330Phe No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Val343Ile No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Val477Ile No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠
  • p.Val9Ile No assertion criteria ALG6-congenital disorder of glycosylation 1C ⚠