Sugi Variant

Sugi Variant/PMM2

PMM2 — 793 ClinVar variants

All ClinVar germline PMM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 187 flagged for review →

49 Pathogenic · 70 Pathogenic/Likely pathogenic · 95 Likely pathogenic · 58 Conflicting · 37 Benign · 11 Benign/Likely benign · 241 Likely benign · 232 Uncertain significance

Full PMM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 187

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 14

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

Predictors agree, ClinVar conflicts 28

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

Predictors lean, ClinVar uncertain 96

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

Predictors split 49

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

All PMM2 variants

Pathogenic 49

  • c.256-1G>C Multiple submitters PMM2-congenital disorder of glycosylation
  • c.66+1G>A Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Arg123Ter Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Arg141His Multiple submitters Fetal anomalies with a likely genetic cause
  • p.Arg239Trp Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Asp12His Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Asp188Gly Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Asp65Tyr Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Cys9fs Multiple submitters PMM2-related disorder
  • p.Cys9Tyr Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Gln22Ter Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Gln33Ter Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Glu139Lys Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Glu54fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Ile132Phe Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Ile132Thr Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Ile153fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Leu35Ter Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Leu82fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Phe183Ser Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Pro113Leu Multiple submitters PMM2-related disorder
  • p.Thr171fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Thr237Met Multiple submitters PMM2-related disorder
  • p.Val44Ala Multiple submitters PMM2-congenital disorder of glycosylation
  • c.255+1G>C Single submitter PMM2-congenital disorder of glycosylation
  • c.255+2T>G Single submitter PMM2-congenital disorder of glycosylation
  • c.256-1G>T Single submitter PMM2-congenital disorder of glycosylation
  • c.523+1del Single submitter PMM2-congenital disorder of glycosylation
  • c.639+2T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.67-2A>G Single submitter PMM2-congenital disorder of glycosylation
  • p.Arg154Ter Single submitter PMM2-congenital disorder of glycosylation
  • p.Asn101Lys Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp12Ter Single submitter
  • p.Asp188fs Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp78fs Single submitter PMM2-congenital disorder of glycosylation
  • p.Glu151Ter Single submitter PMM2-congenital disorder of glycosylation
  • p.Glu70Ter Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly42Ter Single submitter PMM2-congenital disorder of glycosylation
  • p.Ile153Lys Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu32Arg Single submitter PMM2-congenital disorder of glycosylation
  • p.Lys156fs Single submitter PMM2-congenital disorder of glycosylation
  • p.Lys163fs Single submitter PMM2-congenital disorder of glycosylation
  • p.Phe119Leu Single submitter PMM2-congenital disorder of glycosylation
  • p.Phe157fs Single submitter PMM2-congenital disorder of glycosylation
  • p.Phe206Leu Single submitter PMM2-congenital disorder of glycosylation
  • p.Pro20fs Single submitter PMM2-congenital disorder of glycosylation
  • p.Pro6_Cys9del Single submitter PMM2-congenital disorder of glycosylation
  • p.Trp187Ter Single submitter PMM2-congenital disorder of glycosylation
  • p.Ala233fs No assertion criteria PMM2-congenital disorder of glycosylation

Pathogenic/Likely pathogenic 70

  • c.179-1G>C Multiple submitters PMM2-congenital disorder of glycosylation
  • c.255+1G>A Multiple submitters PMM2-congenital disorder of glycosylation
  • c.255+2T>C Multiple submitters PMM2-related disorder
  • c.256-2A>G Multiple submitters PMM2-congenital disorder of glycosylation
  • c.348-2A>G Multiple submitters PMM2-congenital disorder of glycosylation
  • c.451_454del Multiple submitters PMM2-congenital disorder of glycosylation
  • c.639+1G>A Multiple submitters PMM2-congenital disorder of glycosylation
  • c.640-15479C>T Multiple submitters PMM2-congenital disorder of glycosylation
  • c.640-9T>G Multiple submitters PMM2-congenital disorder of glycosylation
  • c.66+1del Multiple submitters PMM2-congenital disorder of glycosylation
  • c.66+1G>T Multiple submitters PMM2-related disorder
  • c.67-1G>C Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Ala108Val Multiple submitters PMM2-related disorder
  • p.Ala19fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Arg123Gln Multiple submitters PMM2-related disorder
  • p.Arg162Trp Multiple submitters PMM2-related disorder ⚠
  • p.Arg194Ter Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Arg238Pro Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Asn216Ile Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Asp148Asn Multiple submitters PMM2-related disorder
  • p.Asp223Asn Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Asp223Glu Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Asp65Asn Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Cys241Ser Multiple submitters PMM2-related disorder
  • p.Gln155Ter Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Gln37Ter Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Gln53Ter Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Gln85Ter Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Glu139fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Glu27Ter Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Gly15Ala Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Gly15Arg Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Gly186Arg Multiple submitters PMM2-related disorder ⚠
  • p.Gly208Ala Multiple submitters PMM2-related disorder
  • p.Gly214Ser Multiple submitters PMM2-related disorder
  • p.Gly228Cys Multiple submitters PMM2-congenital disorder of glycosylation
  • p.His195fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.His90fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Ile120Thr Multiple submitters PMM2-related disorder
  • p.Ile153Thr Multiple submitters Inborn genetic diseases
  • p.Leu104Val Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Leu243Pro Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Leu95fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Lys189fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Met126fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Met1Val Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Phe144Leu Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Phe157Ser Multiple submitters PMM2-related disorder
  • p.Phe206fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Phe207Ser Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Phe31Leu Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Phe68fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Pro113Thr Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Pro131Ala Multiple submitters Inborn genetic diseases
  • p.Pro131fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Pro69Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro6fs Multiple submitters PMM2-related disorder
  • p.Thr226Ser Multiple submitters Inborn genetic diseases
  • p.Thr237Arg Multiple submitters PMM2-related disorder
  • p.Thr25fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Tyr106Phe Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Tyr191Ter Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Tyr64fs Multiple submitters PMM2-related disorder
  • p.Tyr66fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Tyr76Ter Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Val129Leu Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Val129Met Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Val231Met Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Val43Met Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Val60Leu Multiple submitters PMM2-congenital disorder of glycosylation

Likely pathogenic 95

  • c.178+1G>A Multiple submitters PMM2-congenital disorder of glycosylation
  • c.178+2T>G Multiple submitters PMM2-congenital disorder of glycosylation
  • c.179-25A>G Multiple submitters PMM2-congenital disorder of glycosylation
  • c.348-2del Multiple submitters PMM2-congenital disorder of glycosylation
  • c.447+3dup Multiple submitters PMM2-congenital disorder of glycosylation
  • c.448-1_448del Multiple submitters PMM2-congenital disorder of glycosylation
  • c.448-1G>A Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Arg116fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Arg225fs Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Asp188Tyr Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Asp65Gly Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Cys9Phe Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Gly175Ter Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Gly228Arg Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Ile120Met Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Ile132Asn Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Tyr201Ter Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Tyr229Ter Multiple submitters PMM2-congenital disorder of glycosylation
  • c.179-2A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.256-1G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.256-9_256-7del Single submitter Ataxia
  • c.347+1G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.347+2T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.347+5G>A Single submitter
  • c.447+1G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.447+2T>A Single submitter PMM2-congenital disorder of glycosylation
  • c.448-2A>C Single submitter PMM2-congenital disorder of glycosylation
  • c.448-2A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.448-2A>T Single submitter PMM2-congenital disorder of glycosylation
  • c.639+1G>C Single submitter PMM2-congenital disorder of glycosylation
  • c.66_66+1delinsTA Single submitter PMM2-congenital disorder of glycosylation
  • p.Ala75fs Single submitter
  • p.Arg162Pro Single submitter PMM2-congenital disorder of glycosylation
  • p.Arg21fs Single submitter PMM2-congenital disorder of glycosylation
  • p.Arg21Gly Single submitter PMM2-congenital disorder of glycosylation
  • p.Arg239Thr Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Arg84delinsLeuLeuValTer Single submitter PMM2-congenital disorder of glycosylation
  • p.Arg84Ter Single submitter PMM2-congenital disorder of glycosylation
  • p.Asn124fs Single submitter PMM2-congenital disorder of glycosylation
  • p.Asn216Asp Single submitter PMM2-congenital disorder of glycosylation
  • p.Asn58fs Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp148Tyr Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp185Gly Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Asp188Glu Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp98Gly Single submitter PMM2-related disorder ⚠
  • p.Cys103Ter Single submitter PMM2-congenital disorder of glycosylation
  • p.Cys192Ser Single submitter PMM2-congenital disorder of glycosylation
  • p.Cys241Arg Single submitter PMM2-congenital disorder of glycosylation
  • p.Cys241Trp Single submitter PMM2-congenital disorder of glycosylation
  • p.Glu146Ter Single submitter PMM2-congenital disorder of glycosylation
  • p.Glu242Ter Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly117Arg Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly176Val Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly200fs Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly214Arg Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly228Ser Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.His195Arg Single submitter cerebellar ataxia
  • p.His218Asp Single submitter
  • p.Ile110fs Single submitter PMM2-congenital disorder of glycosylation
  • p.Ile153Met Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Leu10fs Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu193Val Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu32Val Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Leu99fs Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu99Ter Single submitter PMM2-congenital disorder of glycosylation
  • p.Lys109Ter Single submitter PMM2-congenital disorder of glycosylation
  • p.Lys114Ter Single submitter PMM2-congenital disorder of glycosylation
  • p.Lys26Ter Single submitter PMM2-congenital disorder of glycosylation
  • p.Lys34fs Single submitter PMM2-congenital disorder of glycosylation
  • p.Lys80fs Single submitter PMM2-congenital disorder of glycosylation
  • p.Phe119Ser Single submitter PMM2-congenital disorder of glycosylation
  • p.Phe144Cys Single submitter PMM2-congenital disorder of glycosylation
  • p.Phe157Cys Single submitter PMM2-congenital disorder of glycosylation
  • p.Phe183Leu Single submitter PMM2-congenital disorder of glycosylation
  • p.Pro131Leu Single submitter PMM2-congenital disorder of glycosylation
  • p.Pro69Leu Single submitter PMM2-congenital disorder of glycosylation
  • p.Ser173_Ile174insTer Single submitter PMM2-congenital disorder of glycosylation
  • p.Thr18Ala Single submitter PMM2-congenital disorder of glycosylation
  • p.Thr18Ser Single submitter PMM2-congenital disorder of glycosylation
  • p.Thr211Ser Single submitter PMM2-related disorder
  • p.Thr226Ile Single submitter PMM2-congenital disorder of glycosylation
  • p.Tyr106Cys Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Tyr64Ter Single submitter PMM2-congenital disorder of glycosylation
  • p.Val129Ala Single submitter PMM2-congenital disorder of glycosylation
  • p.Val231Leu Single submitter PMM2-congenital disorder of glycosylation
  • p.Val44Ile Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Val52Gly Single submitter PMM2-congenital disorder of glycosylation
  • c.179-1G>T No assertion criteria PMM2-congenital disorder of glycosylation
  • c.348-1G>C No assertion criteria PMM2-congenital disorder of glycosylation
  • c.348-2A>C No assertion criteria PMM2-congenital disorder of glycosylation
  • c.524-2A>G No assertion criteria PMM2-congenital disorder of glycosylation
  • c.67-2A>T No assertion criteria PMM2-congenital disorder of glycosylation
  • p.Asn152fs No assertion criteria PMM2-congenital disorder of glycosylation
  • p.Cys9Ter No assertion criteria PMM2-congenital disorder of glycosylation
  • p.Lys63fs No assertion criteria PMM2-congenital disorder of glycosylation

Conflicting classifications of pathogenicity 58

  • c.255+5G>T Single submitter PMM2-congenital disorder of glycosylation
  • c.347+15A>C Single submitter PMM2-congenital disorder of glycosylation
  • c.447+4C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.447+5G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.524-15G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.639+10G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.640-12G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.640-23A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.66+5G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.*10G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.*26C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*368C>G Single submitter PMM2-congenital disorder of glycosylation
  • c.*492C>G Single submitter PMM2-congenital disorder of glycosylation
  • p.Arg134Lys Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Arg141Cys Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Arg141Leu Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Arg21Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg238Cys Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Arg238His Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Arg239Ser Single submitter PMM2-congenital disorder of glycosylation
  • p.Asn216Ser Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Asp199= Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp30Glu Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Cys136= Single submitter PMM2-congenital disorder of glycosylation
  • p.Cys192Arg Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Gln177His Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Gln33Pro Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Gln85= Single submitter PMM2-congenital disorder of glycosylation
  • p.Glu235Ter Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly117Cys Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Gly133= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly175Arg Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Gly176Asp Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Gly176Ser Single submitter ⚠
  • p.Gly42= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly42Arg Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ile153Arg Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ile153Val Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Leu10Phe Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Leu147= Single submitter PMM2-congenital disorder of glycosylation
  • p.Lys115del Single submitter Inborn genetic diseases
  • p.Met212Val Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Phe144Val Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Phe31= Single submitter PMM2-congenital disorder of glycosylation
  • p.Phe68Cys Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Pro184= Single submitter PMM2-congenital disorder of glycosylation
  • p.Pro184Thr Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Pro20Ser Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Pro69Thr Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ser47Leu Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Thr118Ser Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Thr18Pro Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Tyr102= Single submitter PMM2-congenital disorder of glycosylation
  • p.Tyr102Cys Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Tyr229Ser Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Tyr64Ser Single submitter PMM2-related disorder ⚠
  • p.Val44Leu Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Val67Gly Single submitter PMM2-congenital disorder of glycosylation ⚠

Benign 37

Benign/Likely benign 11

  • c.347+40G>A Multiple submitters
  • c.639+19G>C Multiple submitters PMM2-congenital disorder of glycosylation
  • c.640-13C>T Multiple submitters PMM2-congenital disorder of glycosylation
  • c.-291C>A Multiple submitters
  • c.-298C>T Multiple submitters
  • c.*166C>G Multiple submitters PMM2-congenital disorder of glycosylation
  • c.*17G>A Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Ala108= Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Gln37Leu Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Glu197Ala Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Phe122= Multiple submitters PMM2-congenital disorder of glycosylation

Likely benign 241

  • c.179-4G>T Multiple submitters PMM2-congenital disorder of glycosylation
  • c.256-7C>T Multiple submitters PMM2-congenital disorder of glycosylation
  • c.348-19G>A Multiple submitters PMM2-congenital disorder of glycosylation
  • c.348-5C>A Multiple submitters PMM2-congenital disorder of glycosylation
  • c.447+22T>A Multiple submitters
  • c.523+8A>G Multiple submitters PMM2-congenital disorder of glycosylation
  • c.524-141A>C Multiple submitters
  • c.524-16C>T Multiple submitters PMM2-congenital disorder of glycosylation
  • c.524-17C>T Multiple submitters PMM2-congenital disorder of glycosylation
  • c.639+30T>C Multiple submitters
  • c.639+44C>T Multiple submitters
  • c.639+70C>G Multiple submitters
  • c.640-28C>G Multiple submitters PMM2-congenital disorder of glycosylation
  • c.*1360C>T Multiple submitters PMM2-congenital disorder of glycosylation
  • c.*19G>A Multiple submitters
  • p.Asn128= Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Gln88= Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Leu8= Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Lys80= Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Ser230= Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Ser246= Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Thr171= Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Tyr145= Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Tyr201= Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Val43= Multiple submitters PMM2-congenital disorder of glycosylation
  • c.178+11G>C Single submitter PMM2-congenital disorder of glycosylation
  • c.178+20T>G Single submitter PMM2-congenital disorder of glycosylation
  • c.178+21T>G Single submitter
  • c.178+7G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.179-12T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.179-13G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.179-20T>G Single submitter PMM2-congenital disorder of glycosylation
  • c.179-4G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.179-6T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.179-7A>T Single submitter PMM2-congenital disorder of glycosylation
  • c.179-8G>C Single submitter PMM2-congenital disorder of glycosylation
  • c.255+153A>G Single submitter
  • c.255+17C>G Single submitter PMM2-congenital disorder of glycosylation
  • c.255+278G>A Single submitter
  • c.255+8C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.256-10C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.256-133G>A Single submitter
  • c.256-15A>T Single submitter PMM2-congenital disorder of glycosylation
  • c.256-17G>T Single submitter PMM2-congenital disorder of glycosylation
  • c.256-18_256-15del Single submitter PMM2-congenital disorder of glycosylation
  • c.256-5T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.256-6A>C Single submitter PMM2-congenital disorder of glycosylation
  • c.347+17C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.347+18A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.347+20A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.347+8T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.348-14C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.348-17C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.348-19_348-18del Single submitter PMM2-congenital disorder of glycosylation
  • c.348-3del Single submitter PMM2-congenital disorder of glycosylation
  • c.348-4C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.348-5C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.348-8A>C Single submitter PMM2-congenital disorder of glycosylation
  • c.348-8A>G Single submitter
  • c.348-8A>T Single submitter PMM2-congenital disorder of glycosylation
  • c.348-9C>A Single submitter PMM2-congenital disorder of glycosylation
  • c.447+11C>A Single submitter PMM2-congenital disorder of glycosylation
  • c.447+19T>A Single submitter PMM2-congenital disorder of glycosylation
  • c.447+7C>A Single submitter PMM2-congenital disorder of glycosylation
  • c.447+7C>G Single submitter PMM2-congenital disorder of glycosylation
  • c.447+7C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.447+8T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.448-11G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.448-13_448-12del Single submitter PMM2-congenital disorder of glycosylation
  • c.448-15T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.448-16T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.448-17C>A Single submitter PMM2-congenital disorder of glycosylation
  • c.448-18T>A Single submitter PMM2-congenital disorder of glycosylation
  • c.448-18T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.448-20dup Single submitter
  • c.448-23_448-18del Single submitter PMM2-congenital disorder of glycosylation
  • c.523+10A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.523+11T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.523+139A>G Single submitter
  • c.523+13T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.523+14T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.523+15G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.523+16C>G Single submitter PMM2-congenital disorder of glycosylation
  • c.523+18T>A Single submitter PMM2-congenital disorder of glycosylation
  • c.523+19G>C Single submitter PMM2-congenital disorder of glycosylation
  • c.523+52T>A Single submitter
  • c.524-10C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.524-13C>G Single submitter PMM2-congenital disorder of glycosylation
  • c.524-15G>C Single submitter PMM2-congenital disorder of glycosylation
  • c.524-17C>A Single submitter PMM2-congenital disorder of glycosylation
  • c.524-30G>A Single submitter
  • c.524-4del Single submitter PMM2-congenital disorder of glycosylation
  • c.524-4G>T Single submitter PMM2-congenital disorder of glycosylation
  • c.524-6C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.524-6del Single submitter PMM2-congenital disorder of glycosylation
  • c.524-7C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.524-9A>C Single submitter PMM2-congenital disorder of glycosylation
  • c.639+14T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.639+15G>C Single submitter
  • c.639+19G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.639+57A>G Single submitter
  • c.639+7A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.639+8G>C Single submitter PMM2-congenital disorder of glycosylation
  • c.639+9A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.640-12G>C Single submitter PMM2-congenital disorder of glycosylation
  • c.640-15215C>T Single submitter
  • c.640-15606C>T Single submitter
  • c.640-15672C>T Single submitter
  • c.640-15802C>A Single submitter
  • c.640-17A>C Single submitter PMM2-congenital disorder of glycosylation
  • c.640-330C>A Single submitter
  • c.640-42_640-41del Single submitter
  • c.640-46G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.640-4C>G Single submitter PMM2-congenital disorder of glycosylation
  • c.640-7T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.66+10_66+12del Single submitter PMM2-congenital disorder of glycosylation
  • c.66+10G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.66+12C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.66+13_66+20del Single submitter PMM2-congenital disorder of glycosylation
  • c.66+13C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.66+16C>G Single submitter PMM2-congenital disorder of glycosylation
  • c.66+16C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.66+17G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.66+20C>G Single submitter PMM2-congenital disorder of glycosylation
  • c.66+7G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.66+9C>A Single submitter PMM2-congenital disorder of glycosylation
  • c.66+9C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.67-119T>A Single submitter
  • c.67-12C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.67-15T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.67-20T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.67-8A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.-15C>G Single submitter
  • c.-35A>T Single submitter
  • c.*1224C>A Single submitter PMM2-congenital disorder of glycosylation
  • c.*18C>T Single submitter
  • c.*2G>A Single submitter
  • c.*534G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.*915T>A Single submitter PMM2-congenital disorder of glycosylation
  • p.Ala159= Single submitter PMM2-congenital disorder of glycosylation
  • p.Ala233= Single submitter PMM2-congenital disorder of glycosylation
  • p.Ala3= Single submitter PMM2-congenital disorder of glycosylation
  • p.Ala7= Single submitter PMM2-congenital disorder of glycosylation
  • p.Ala75= Single submitter PMM2-congenital disorder of glycosylation
  • p.Arg162= Single submitter PMM2-congenital disorder of glycosylation
  • p.Arg190= Single submitter PMM2-congenital disorder of glycosylation
  • p.Arg194= Single submitter PMM2-congenital disorder of glycosylation
  • p.Arg21= Single submitter PMM2-congenital disorder of glycosylation
  • p.Arg238= Single submitter PMM2-congenital disorder of glycosylation
  • p.Asn216= Single submitter PMM2-congenital disorder of glycosylation
  • p.Asn71= Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp12= Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp148= Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp188= Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp217= Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp223= Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp236= Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp30= Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp65= Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp78= Single submitter PMM2-congenital disorder of glycosylation
  • p.Asp98= Single submitter PMM2-congenital disorder of glycosylation
  • p.Cys9= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gln138= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gln177= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gln37= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gln53= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gln55= Single submitter PMM2-congenital disorder of glycosylation
  • p.Glu235= Single submitter PMM2-congenital disorder of glycosylation
  • p.Glu54= Single submitter PMM2-congenital disorder of glycosylation
  • p.Glu93= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly125= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly15= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly169= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly176= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly186= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly200= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly214= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly215= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly45= Single submitter PMM2-congenital disorder of glycosylation
  • p.Gly5= Single submitter PMM2-congenital disorder of glycosylation
  • p.His195= Single submitter PMM2-congenital disorder of glycosylation
  • p.His90= Single submitter PMM2-congenital disorder of glycosylation
  • p.Ile100= Single submitter PMM2-congenital disorder of glycosylation
  • p.Ile110= Single submitter PMM2-congenital disorder of glycosylation
  • p.Ile132= Single submitter PMM2-congenital disorder of glycosylation
  • p.Ile178= Single submitter PMM2-congenital disorder of glycosylation
  • p.Ile240= Single submitter PMM2-congenital disorder of glycosylation
  • p.Ile41= Single submitter PMM2-congenital disorder of glycosylation
  • p.Ile96= Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu104= Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu112= Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu161= Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu17= Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu244= Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu32= Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu35= Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu56= Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu73= Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu81= Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu82= Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu91= Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu95= Single submitter PMM2-congenital disorder of glycosylation
  • p.Leu99= Single submitter PMM2-congenital disorder of glycosylation
  • p.Lys115= Single submitter PMM2-congenital disorder of glycosylation
  • p.Lys189= Single submitter PMM2-congenital disorder of glycosylation
  • p.Lys26= Single submitter PMM2-congenital disorder of glycosylation
  • p.Lys40= Single submitter PMM2-congenital disorder of glycosylation
  • p.Phe119= Single submitter PMM2-congenital disorder of glycosylation
  • p.Phe183= Single submitter PMM2-congenital disorder of glycosylation
  • p.Phe206= Single submitter PMM2-congenital disorder of glycosylation
  • p.Phe207= Single submitter PMM2-congenital disorder of glycosylation
  • p.Phe221= Single submitter PMM2-congenital disorder of glycosylation
  • p.Pro113= Single submitter PMM2-congenital disorder of glycosylation
  • p.Pro20= Single submitter PMM2-congenital disorder of glycosylation
  • p.Pro224= Single submitter PMM2-congenital disorder of glycosylation
  • p.Pro4= Single submitter PMM2-congenital disorder of glycosylation
  • p.Pro6= Single submitter PMM2-congenital disorder of glycosylation
  • p.Pro69= Single submitter PMM2-congenital disorder of glycosylation
  • p.Ser130= Single submitter PMM2-congenital disorder of glycosylation
  • p.Ser135= Single submitter PMM2-congenital disorder of glycosylation
  • p.Ser179= Single submitter PMM2-congenital disorder of glycosylation
  • p.Ser47= Single submitter PMM2-congenital disorder of glycosylation
  • p.Thr118= Single submitter PMM2-congenital disorder of glycosylation
  • p.Thr16= Single submitter PMM2-congenital disorder of glycosylation
  • p.Thr18= Single submitter PMM2-congenital disorder of glycosylation
  • p.Thr203= Single submitter PMM2-congenital disorder of glycosylation
  • p.Thr211= Single submitter PMM2-congenital disorder of glycosylation
  • p.Thr222= Single submitter PMM2-congenital disorder of glycosylation
  • p.Thr226= Single submitter PMM2-congenital disorder of glycosylation
  • p.Thr232= Single submitter PMM2-congenital disorder of glycosylation
  • p.Thr237= Single submitter PMM2-congenital disorder of glycosylation
  • p.Thr25= Single submitter PMM2-congenital disorder of glycosylation
  • p.Tyr106= Single submitter PMM2-congenital disorder of glycosylation
  • p.Tyr191= Single submitter PMM2-congenital disorder of glycosylation
  • p.Tyr205= Single submitter PMM2-congenital disorder of glycosylation
  • p.Tyr229= Single submitter PMM2-congenital disorder of glycosylation
  • p.Tyr64= Single submitter PMM2-congenital disorder of glycosylation
  • p.Val129= Single submitter PMM2-congenital disorder of glycosylation
  • p.Val52= Single submitter PMM2-congenital disorder of glycosylation
  • c.640-25_640-22dup No assertion criteria PMM2-congenital disorder of glycosylation
  • c.*9C>T No assertion criteria PMM2-related disorder

Uncertain significance 232

  • c.178+3A>G Multiple submitters PMM2-congenital disorder of glycosylation
  • c.256-13T>G Multiple submitters PMM2-congenital disorder of glycosylation
  • c.523+3A>G Multiple submitters PMM2-congenital disorder of glycosylation
  • c.523+5T>C Multiple submitters PMM2-congenital disorder of glycosylation
  • c.524-5G>A Multiple submitters PMM2-congenital disorder of glycosylation
  • c.640-13C>A Multiple submitters PMM2-congenital disorder of glycosylation
  • c.640-16C>G Multiple submitters PMM2-congenital disorder of glycosylation
  • c.*242C>T Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Ala233Thr Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Arg194Gln Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Arg239Lys Multiple submitters ⚠
  • p.Arg84Ser Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Asn198Ser Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Asn198Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp14Ala Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Asp14Asn Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Asp199His Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Asp236Glu Multiple submitters Inborn genetic diseases
  • p.Cys83Tyr Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Gln155Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln88His Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Glu164Lys Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Glu219Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu235Lys Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Glu50Val Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Gly200Ser Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Gly5Asp Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Gly79Arg Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.His218Asn Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Ile110Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile142Met Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Ile142Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile174Met Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Ile96Ser Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Leu112Val Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Leu170Val Multiple submitters Inborn genetic diseases ⚠
  • p.Lys149Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys163Gln Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Pro20Leu Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Pro224Arg Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Ser135Arg Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Ser135Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser137Arg Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Ser246del Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Ser246Tyr Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Thr118Ala Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Tyr201Cys Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Val196Met Multiple submitters PMM2-congenital disorder of glycosylation ⚠
  • p.Val43Leu Multiple submitters PMM2-congenital disorder of glycosylation
  • p.Val52Leu Multiple submitters Inborn genetic diseases ⚠
  • c.178+12G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.347+3G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.348-2_348-1insAA Single submitter PMM2-congenital disorder of glycosylation
  • c.524-13C>A Single submitter PMM2-congenital disorder of glycosylation
  • c.640-11T>G Single submitter PMM2-congenital disorder of glycosylation
  • c.640-12374_640-5520del Single submitter
  • c.640-15418G>T Single submitter PMM2-congenital disorder of glycosylation
  • c.640-4744G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.640-9T>A Single submitter Inborn genetic diseases
  • c.66+61G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.67-6A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.-144G>A Single submitter
  • c.-19G>A Single submitter
  • c.-338C>T Single submitter
  • c.-34C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.-401T>C Single submitter
  • c.-456T>C Single submitter
  • c.*1032C>G Single submitter PMM2-congenital disorder of glycosylation
  • c.*1063C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*1072A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.*1074T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.*1086G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.*1103C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*1136T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.*1138T>G Single submitter PMM2-congenital disorder of glycosylation
  • c.*1142A>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*1195G>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*1218A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.*1260C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*1297C>A Single submitter PMM2-congenital disorder of glycosylation
  • c.*1297C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*1312T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.*1345T>C Single submitter PMM2-congenital disorder of glycosylation
  • c.*1348A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.*1352G>C Single submitter PMM2-congenital disorder of glycosylation
  • c.*1375G>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*137G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.*1380A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.*1424C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*1434C>A Single submitter PMM2-congenital disorder of glycosylation
  • c.*1440C>G Single submitter PMM2-congenital disorder of glycosylation
  • c.*205C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*246C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*255A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.*275A>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*276C>G Single submitter PMM2-congenital disorder of glycosylation
  • c.*365G>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*383C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*410A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.*421G>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*458C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*476C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*477G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.*52C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*53G>C Single submitter PMM2-congenital disorder of glycosylation
  • c.*588G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.*658C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*674G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.*695C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*733C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*81C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*833G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.*888A>G Single submitter PMM2-congenital disorder of glycosylation
  • c.*891C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*896G>A Single submitter PMM2-congenital disorder of glycosylation
  • c.*91C>T Single submitter PMM2-congenital disorder of glycosylation
  • c.*959C>G Single submitter PMM2-congenital disorder of glycosylation
  • c.*972C>T Single submitter PMM2-congenital disorder of glycosylation
  • p.Ala166Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala19Val Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ala233Val Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ala2Thr Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ala3Val Single submitter ⚠
  • p.Ala75Pro Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Arg162Gln Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Arg84Ile Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Asn101Ser Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Asn86fs Single submitter pituitary stalk interruption syndrome
  • p.Asp12Tyr Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Asp199Tyr Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Asp209Glu Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Asp236Asn Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Asp236Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln53Lys Single submitter ⚠
  • p.Glu121Asp Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Glu146Lys Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Glu164Gln Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Glu235Gln Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Glu27Lys Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Glu93Asp Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Gly200Ala Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Gly200Val Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Gly228Val Single submitter ⚠
  • p.Gly46Glu Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Gly57Arg Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.His218Arg Single submitter ⚠
  • p.Ile107Val Single submitter ⚠
  • p.Ile110Ser Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ile120Asn Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ile132Ser Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ile132Val Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ile174Lys Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ile174Thr Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ile178Met Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ile220Met Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ile220Val Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ile240Val Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ile39Met Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ile87Met Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Leu10Val Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Leu127Ile Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Leu147Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu161Val Single submitter Inborn genetic diseases ⚠
  • p.Leu170Phe Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Leu243Val Single submitter Inborn genetic diseases ⚠
  • p.Leu8Val Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Leu99Ser Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Lys114Arg Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Lys149Asn Single submitter PMM2-congenital disorder of glycosylation
  • p.Lys163Thr Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Lys168Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys210Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys23= Single submitter PMM2-congenital disorder of glycosylation
  • p.Lys26Glu Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Lys63Ile Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Met126Ile Single submitter ⚠
  • p.Met126Leu Single submitter Inborn genetic diseases ⚠
  • p.Met1fs Single submitter
  • p.Met227Thr Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Phe11= Single submitter
  • p.Phe11Cys Single submitter ⚠
  • p.Phe11Leu Single submitter ⚠
  • p.Phe11Val Single submitter Inborn genetic diseases ⚠
  • p.Phe122Leu Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Phe180Ser Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Phe245Leu Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Pro113Ser Single submitter ⚠
  • p.Pro20Arg Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Pro213= Single submitter PMM2-congenital disorder of glycosylation
  • p.Pro224Leu Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Pro234Leu Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Pro4Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro4Ser Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Pro69Ala Single submitter ⚠
  • p.Ser105Asn Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ser130Cys Single submitter ⚠
  • p.Ser137Thr Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ser179Arg Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Ter247Gln Single submitter PMM2-congenital disorder of glycosylation
  • p.Thr16Ile Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Thr171Met Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Thr18Ile Single submitter ⚠
  • p.Thr203Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr211Ala Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Trp187Arg Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Tyr145Cys Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Tyr191His Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Tyr76Cys Single submitter ⚠
  • p.Val158Ala Single submitter ⚠
  • p.Val158Ile Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Val182Asp Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Val182Leu Single submitter PMM2-congenital disorder of glycosylation ⚠
  • p.Val231= Single submitter
  • c.179-15del No assertion criteria PMM2-congenital disorder of glycosylation
  • c.179-24G>C No assertion criteria PMM2-congenital disorder of glycosylation
  • c.255+5G>A No assertion criteria PMM2-congenital disorder of glycosylation
  • c.-165G>A No assertion criteria PMM2-congenital disorder of glycosylation
  • c.-2A>T No assertion criteria PMM2-congenital disorder of glycosylation
  • p.Ala166= No assertion criteria PMM2-congenital disorder of glycosylation
  • p.Ala2Ser No assertion criteria PMM2-congenital disorder of glycosylation ⚠
  • p.Arg141Ser No assertion criteria PMM2-congenital disorder of glycosylation ⚠
  • p.Asn101Asp No assertion criteria PMM2-congenital disorder of glycosylation ⚠
  • p.Asn58Ser No assertion criteria PMM2-congenital disorder of glycosylation ⚠
  • p.Asp217Glu No assertion criteria PMM2-congenital disorder of glycosylation ⚠
  • p.Asp98Glu No assertion criteria PMM2-congenital disorder of glycosylation ⚠
  • p.Cys103Arg No assertion criteria PMM2-congenital disorder of glycosylation ⚠
  • p.Cys136Ser No assertion criteria PMM2-congenital disorder of glycosylation ⚠
  • p.His218fs No assertion criteria PMM2-congenital disorder of glycosylation
  • p.Ile204Met No assertion criteria PMM2-congenital disorder of glycosylation ⚠
  • p.Met212Thr No assertion criteria PMM2-congenital disorder of glycosylation ⚠
  • p.Ser173Phe No assertion criteria PMM2-congenital disorder of glycosylation ⚠
  • p.Thr203Ile No assertion criteria PMM2-congenital disorder of glycosylation ⚠