Sugi Variant

Sugi Variant/NUS1

NUS1 — 491 ClinVar variants

All ClinVar germline NUS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 220 flagged for review →

47 Pathogenic · 5 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 12 Conflicting · 11 Benign · 4 Benign/Likely benign · 146 Likely benign · 237 Uncertain significance

Full NUS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 220

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 1

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

Predictors agree, ClinVar conflicts 9

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 178

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 178

Predictors split 31

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

All NUS1 variants

Pathogenic 47

  • p.Val48fs Multiple submitters NUS1-related disorder
  • c.415+2T>G Single submitter congenital disorder of glycosylation, type Iaa
  • c.692-1G>C Single submitter congenital disorder of glycosylation, type Iaa
  • c.791+1del Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ala280fs Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ala43fs Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Ala80fs Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Arg143fs Single submitter congenital disorder of glycosylation, type Iaa
  • p.Arg217fs Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Arg73fs Single submitter
  • p.Arg84fs Single submitter congenital disorder of glycosylation, type Iaa
  • p.Asn34fs Single submitter congenital disorder of glycosylation, type Iaa
  • p.Cys17fs Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Cys17Ter Single submitter congenital disorder of glycosylation, type Iaa
  • p.Cys208fs Single submitter
  • p.Glu158Ter Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Glu6Ter Single submitter congenital disorder of glycosylation, type Iaa
  • p.Gly161fs Single submitter congenital disorder of glycosylation, type Iaa
  • p.Gly245Val Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.His257fs Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu148Ter Single submitter Inborn genetic diseases
  • p.Leu18fs Single submitter
  • p.Leu251Ter Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Leu94fs Single submitter congenital disorder of glycosylation, type Iaa
  • p.Lys189Ter Single submitter congenital disorder of glycosylation, type Iaa
  • p.Lys216fs Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Met101fs Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ser168Ter Single submitter Inborn genetic diseases
  • p.Ser232Ter Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ser45fs Single submitter congenital disorder of glycosylation, type Iaa
  • p.Thr2fs Single submitter
  • p.Thr32fs Single submitter congenital disorder of glycosylation, type Iaa
  • p.Thr55fs Single submitter congenital disorder of glycosylation, type Iaa
  • p.Trp123fs Single submitter congenital disorder of glycosylation, type Iaa
  • p.Trp123Ter Single submitter NUS1-related disorder
  • p.Trp25Ter Single submitter congenital disorder of glycosylation, type Iaa
  • p.Trp33Ter Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Trp35Ter Single submitter NUS1-related neurodevelopmental disorder
  • p.Trp37fs Single submitter congenital disorder of glycosylation, type Iaa
  • p.Trp37Ter Single submitter congenital disorder of glycosylation, type Iaa
  • p.Tyr135Ter Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Tyr167Ter Single submitter Inborn genetic diseases
  • p.Tyr5Ter Single submitter congenital disorder of glycosylation, type Iaa
  • p.Val127fs Single submitter congenital disorder of glycosylation, type Iaa
  • c.791+6T>G No assertion criteria intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Asp248fs No assertion criteria intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Trp9fs No assertion criteria

Pathogenic/Likely pathogenic 5

  • c.415+1G>A Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Arg290Cys Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Gln110Ter Multiple submitters intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Leu240Ter Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Ser76fs Multiple submitters congenital disorder of glycosylation, type Iaa

Likely pathogenic 29

  • c.692-2A>G Multiple submitters intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Gly74fs Multiple submitters intellectual developmental disorder, autosomal dominant 55, with seizures
  • c.415+2_415+3insCGTAGGT Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • c.542-1G>C Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • c.542-1G>T Single submitter congenital disorder of glycosylation, type Iaa
  • c.691+2T>C Single submitter congenital disorder of glycosylation, type Iaa
  • c.692-1G>A Single submitter congenital disorder of glycosylation, type Iaa
  • c.791+4A>C Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • c.792-2A>G Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Arg147Ter Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Asp206Tyr Single submitter bilateral perisylvian polymicrogyria ⚠
  • p.Cys287Ter Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Gln205Ter Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Leu103Arg Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu226fs Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Leu229Ter Single submitter
  • p.Leu230fs Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Leu4fs Single submitter
  • p.Lys214Ter Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Met125fs Single submitter
  • p.Met1fs Single submitter congenital disorder of glycosylation, type Iaa
  • p.Phe207fs Single submitter NUS1-related disorder
  • p.Pro60fs Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Thr106fs Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Thr225fs Single submitter
  • p.Trp256Ter Single submitter
  • p.Trp9Ter Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Val11fs Single submitter
  • p.Ile129fs No assertion criteria NUS1-related disorder

Conflicting classifications of pathogenicity 12

  • p.Arg290His Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures ⚠
  • p.Asp163= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Asp224Gly Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures ⚠
  • p.Gly75Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly91Ser Single submitter Inborn genetic diseases ⚠
  • p.His82Gln Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Lys214Glu Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Lys58Asn Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Met1Val Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Pro169Arg Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures ⚠
  • p.Pro193= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Pro72Ser Single submitter Inborn genetic diseases ⚠

Benign 11

Benign/Likely benign 4

  • c.541+10A>C Multiple submitters congenital disorder of glycosylation, type Iaa
  • c.542-14_542-11del Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Arg66Pro Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Phe244= Multiple submitters congenital disorder of glycosylation, type Iaa

Likely benign 146

  • c.416-6T>G Multiple submitters congenital disorder of glycosylation, type Iaa
  • c.542-73T>C Multiple submitters
  • c.792-19C>T Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Ala126= Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Ala80= Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Arg290= Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Asn65= Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Gly161= Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.His68= Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Leu270= Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Leu94= Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Lys216= Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Pro51= Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Thr106= Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Thr23= Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Val108= Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Val48= Multiple submitters congenital disorder of glycosylation, type Iaa
  • c.415+14C>T Single submitter congenital disorder of glycosylation, type Iaa
  • c.415+15G>A Single submitter congenital disorder of glycosylation, type Iaa
  • c.415+203_415+204insG Single submitter
  • c.415+20T>C Single submitter congenital disorder of glycosylation, type Iaa
  • c.415+20T>G Single submitter congenital disorder of glycosylation, type Iaa
  • c.415+24_415+26del Single submitter
  • c.415+9C>T Single submitter congenital disorder of glycosylation, type Iaa
  • c.416-10T>C Single submitter congenital disorder of glycosylation, type Iaa
  • c.416-11C>T Single submitter congenital disorder of glycosylation, type Iaa
  • c.416-17del Single submitter congenital disorder of glycosylation, type Iaa
  • c.416-18C>G Single submitter
  • c.416-6T>C Single submitter congenital disorder of glycosylation, type Iaa
  • c.416-9T>G Single submitter congenital disorder of glycosylation, type Iaa
  • c.541+19T>C Single submitter congenital disorder of glycosylation, type Iaa
  • c.541+8T>C Single submitter congenital disorder of glycosylation, type Iaa
  • c.542-20T>C Single submitter congenital disorder of glycosylation, type Iaa
  • c.542-9T>A Single submitter congenital disorder of glycosylation, type Iaa
  • c.542-9T>C Single submitter congenital disorder of glycosylation, type Iaa
  • c.691+11T>A Single submitter congenital disorder of glycosylation, type Iaa
  • c.691+120G>A Single submitter
  • c.691+12T>A Single submitter congenital disorder of glycosylation, type Iaa
  • c.691+12T>G Single submitter congenital disorder of glycosylation, type Iaa
  • c.691+12TA[7] Single submitter congenital disorder of glycosylation, type Iaa
  • c.691+13A>T Single submitter congenital disorder of glycosylation, type Iaa
  • c.691+19A>G Single submitter congenital disorder of glycosylation, type Iaa
  • c.691+7T>G Single submitter congenital disorder of glycosylation, type Iaa
  • c.691+8T>G Single submitter congenital disorder of glycosylation, type Iaa
  • c.692-11T>G Single submitter congenital disorder of glycosylation, type Iaa
  • c.692-15T>G Single submitter
  • c.692-18TATT[2] Single submitter congenital disorder of glycosylation, type Iaa
  • c.692-19G>A Single submitter congenital disorder of glycosylation, type Iaa
  • c.692-4C>A Single submitter congenital disorder of glycosylation, type Iaa
  • c.791+16_791+17insTTTGTTTAGATTCA Single submitter congenital disorder of glycosylation, type Iaa
  • c.791+16C>G Single submitter congenital disorder of glycosylation, type Iaa
  • c.791+16C>T Single submitter congenital disorder of glycosylation, type Iaa
  • c.791+17_791+19delinsTTTGTTTAGATTCAGTAAT Single submitter congenital disorder of glycosylation, type Iaa
  • c.791+17G>A Single submitter congenital disorder of glycosylation, type Iaa
  • c.791+19_791+20insAT Single submitter congenital disorder of glycosylation, type Iaa
  • c.791+7A>G Single submitter congenital disorder of glycosylation, type Iaa
  • c.791+7A>T Single submitter congenital disorder of glycosylation, type Iaa
  • c.791+9_791+12del Single submitter congenital disorder of glycosylation, type Iaa
  • c.792-13G>T Single submitter congenital disorder of glycosylation, type Iaa
  • c.792-15G>A Single submitter congenital disorder of glycosylation, type Iaa
  • c.792-16C>T Single submitter congenital disorder of glycosylation, type Iaa
  • c.792-17C>T Single submitter congenital disorder of glycosylation, type Iaa
  • c.792-18C>T Single submitter congenital disorder of glycosylation, type Iaa
  • c.792-20C>T Single submitter congenital disorder of glycosylation, type Iaa
  • c.-185G>A Single submitter
  • c.*157TG[5] Single submitter
  • c.*15A>G Single submitter
  • c.*18A>G Single submitter
  • p.Ala118= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ala187= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ala204= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ala227= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ala46= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ala47= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ala81= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Arg10= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Arg38= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Arg39= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Arg66Gly Single submitter Inborn genetic diseases
  • p.Arg88= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Arg92= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Asn173= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Asn233= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Asp195= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Asp224= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Asp276= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Asp90= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Cys124= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Cys40= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Cys77= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Gln110= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Gln209= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Gln289= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Glu109= Single submitter
  • p.Glu275= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Gly128= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Gly139= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Gly252= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Gly75= Single submitter congenital disorder of glycosylation, type Iaa
  • p.His13= Single submitter congenital disorder of glycosylation, type Iaa
  • p.His19= Single submitter congenital disorder of glycosylation, type Iaa
  • p.His269= Single submitter congenital disorder of glycosylation, type Iaa
  • p.His71= Single submitter congenital disorder of glycosylation, type Iaa
  • p.His83= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ile117= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ile36= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu12= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu120= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu15= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu153= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu160= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu18= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu191= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu22= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu226= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu254= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu266= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu281= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu52= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu78= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu97= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Lys189= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Lys96= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Phe114= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Phe30= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Pro112= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Pro193Leu Single submitter congenital disorder of glycosylation, type Iaa
  • p.Pro255= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Pro60= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Pro72= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ser130= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ser93= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ter294= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Thr2= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Thr21= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Thr225= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Thr250= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Thr32= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Thr55= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Tyr131= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Tyr274= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Tyr5= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Val104= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Val134= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Val223= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Val8= Single submitter congenital disorder of glycosylation, type Iaa

Uncertain significance 237

  • p.Ala187Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala44Thr Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Ala79Val Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg10Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg217Ile Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg282Cys Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg282His Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg57Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg66His Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg92Ser Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Asn175Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn175Tyr Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Asn233Asp Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Asn34Asp Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Asp163His Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Cys17Arg Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Cys40Tyr Multiple submitters intellectual developmental disorder, autosomal dominant 55, with seizures ⚠
  • p.Cys41Trp Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Gln157Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln180Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln213Arg Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Glu6Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Gly53Asp Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Gly74Glu Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Gly74Trp Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.His269Tyr Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.His69Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ile36Met Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Leu103Val Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Leu12Pro Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Leu16Phe Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Leu210Ser Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Leu26Phe Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Leu56Phe Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Met149Val Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Phe141Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Phe207Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro112Arg Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Ser146Tyr Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Ser174Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser24del Multiple submitters congenital disorder of glycosylation, type Iaa
  • p.Ser93Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Thr225Met Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Thr23Ile Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Trp25Cys Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Trp33Arg Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • p.Val201Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val8Leu Multiple submitters congenital disorder of glycosylation, type Iaa ⚠
  • c.541+5G>A Single submitter congenital disorder of glycosylation, type Iaa
  • c.541+5G>T Single submitter congenital disorder of glycosylation, type Iaa
  • c.791+6T>C Single submitter congenital disorder of glycosylation, type Iaa
  • c.792-3C>G Single submitter congenital disorder of glycosylation, type Iaa
  • c.-4G>T Single submitter
  • p.Ala118Glu Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ala118Ser Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ala212Ser Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ala227Pro Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ala43Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala43Thr Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ala46Pro Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ala47Thr Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg10Gln Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg10Gly Single submitter Inborn genetic diseases
  • p.Arg10Pro Single submitter ⚠
  • p.Arg20Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg20Gly Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg20Pro Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg282Gly Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg38Trp Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg42Cys Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg42Pro Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg57Leu Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg66Asp Single submitter congenital disorder of glycosylation, type Iaa
  • p.Arg67Cys Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg67Pro Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg67Ser Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg70Gln Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg70Gly Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg73Cys Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg73His Single submitter ⚠
  • p.Arg84Gln Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg84Gly Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures ⚠
  • p.Arg88Cys Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Arg92Gly Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Asn144Lys Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Asn175Ser Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Asn183Ser Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Asn233Ser Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Asp116His Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Asp150Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp150Gly Single submitter ⚠
  • p.Asp176Glu Single submitter ⚠
  • p.Asp199Ala Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Asp199Gly Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Asp206Asn Single submitter ⚠
  • p.Asp222Glu Single submitter ⚠
  • p.Asp90Asn Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Cys124Arg Single submitter ⚠
  • p.Cys124Ser Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Cys164Ser Single submitter Inborn genetic diseases ⚠
  • p.Cys17_Leu18insArgValLeuHisAlaLeuLeuCys Single submitter congenital disorder of glycosylation, type Iaa
  • p.Cys184Gly Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Cys184Ser Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Cys287fs Single submitter
  • p.Cys287Tyr Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gln110Arg Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gln138Arg Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gln157Glu Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gln157Leu Single submitter ⚠
  • p.Gln180= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Gln205Arg Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gln205Glu Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gln205Pro Single submitter ⚠
  • p.Gln209His Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gln209Leu Single submitter ⚠
  • p.Gln215His Single submitter ⚠
  • p.Gln215Lys Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gln289Arg Single submitter ⚠
  • p.Glu170Lys Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Glu194Lys Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Glu6_His13del Single submitter congenital disorder of glycosylation, type Iaa
  • p.Glu6Asp Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gly102Ser Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gly128Asp Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gly139Asp Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gly139Ser Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gly161Asp Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gly252Asp Single submitter ⚠
  • p.Gly292Glu Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gly31Asp Single submitter ⚠
  • p.Gly3Arg Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gly74Arg Single submitter ⚠
  • p.Gly75Trp Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Gly91Cys Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.His100_Met101delinsLeu Single submitter
  • p.His100Pro Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.His13Gln Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.His185Leu Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.His19Gln Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.His19Leu Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.His68Tyr Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.His71Gln Single submitter NUS1-related disorder ⚠
  • p.His82Leu Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.His83Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ile105Val Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ile117Met Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ile129Val Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ile140Met Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ile140Val Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ile152Asn Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures ⚠
  • p.Ile200Thr Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ile200Val Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ile263Thr Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ile263Val Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ile272Phe Single submitter ⚠
  • p.Ile36Phe Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Leu120Val Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Leu15_Leu16insHisAlaLeu Single submitter
  • p.Leu159Phe Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Leu160Val Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures ⚠
  • p.Leu18Val Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Leu22Phe Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Leu230= Single submitter congenital disorder of glycosylation, type Iaa
  • p.Leu230Phe Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures ⚠
  • p.Leu230Pro Single submitter ⚠
  • p.Leu281Pro Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Leu281Val Single submitter ⚠
  • p.Leu291Pro Single submitter
  • p.Leu49Ile Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures ⚠
  • p.Leu52Val Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Leu7Val Single submitter NUS1-related disorder ⚠
  • p.Leu97Gln Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Lys166Asn Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Lys216Glu Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Met101Ile Single submitter Inborn genetic diseases ⚠
  • p.Met101Thr Single submitter congenital disorder of glycosylation, type Iaa
  • p.Met101Val Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Met149Thr Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Met1Ile Single submitter congenital disorder of glycosylation, type Iaa
  • p.Met85Lys Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Phe253Ser Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Phe30Cys Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Phe54_Thr55insAlaValLeuAlaProLeuGlyPhe Single submitter
  • p.Phe54Leu Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Pro193Ala Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Pro246Leu Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Pro267Arg Single submitter
  • p.Pro267His Single submitter Inborn genetic diseases
  • p.Pro51Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro59Ser Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Pro60Ala Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Pro60Ser Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Pro72Leu Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Pro72Thr Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Pro98Arg Single submitter ⚠
  • p.Pro98Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser113Asn Single submitter ⚠
  • p.Ser113Ile Single submitter
  • p.Ser133Asn Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ser133Ile Single submitter ⚠
  • p.Ser168Ala Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ser168Pro Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ser174Asn Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ser228Arg Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ser231Ile Single submitter ⚠
  • p.Ser249Gly Single submitter congenital disorder of glycosylation, type Iaa
  • p.Ser24Phe Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ser265Cys Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ser268Tyr Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ser45Pro Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ser76Ala Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ser93Ala Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Ter294Trp Single submitter congenital disorder of glycosylation, type Iaa
  • p.Thr21Met Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Thr23Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr250Ala Single submitter ⚠
  • p.Thr2Met Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Thr32_Asn34delinsAlaArgAsnTrpIle Single submitter congenital disorder of glycosylation, type Iaa
  • p.Thr32Ala Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Thr32Ile Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Trp123del Single submitter intellectual developmental disorder, autosomal dominant 55, with seizures
  • p.Trp35Cys Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Trp87Gly Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Trp9Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr167Cys Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Tyr5His Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Tyr5Phe Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Val11Ala Single submitter ⚠
  • p.Val121Ala Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Val188Met Single submitter Inborn genetic diseases ⚠
  • p.Val201Leu Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Val264Ile Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Val62Gly Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Val8_Leu15del Single submitter
  • p.Val8Ala Single submitter ⚠
  • p.Val99Leu Single submitter congenital disorder of glycosylation, type Iaa ⚠
  • p.Val28Leu No assertion criteria microcephaly ⚠