Sugi Variant

Sugi Variant/NGLY1

NGLY1 — 878 ClinVar variants

All ClinVar germline NGLY1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 303 flagged for review →

76 Pathogenic · 16 Pathogenic/Likely pathogenic · 31 Likely pathogenic · 23 Conflicting · 33 Benign · 12 Benign/Likely benign · 364 Likely benign · 323 Uncertain significance

Full NGLY1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 303

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 15

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

Predictors lean, ClinVar uncertain 218

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 218

Predictors split 70

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

All NGLY1 variants

Pathogenic 76

  • p.Arg390Ter Multiple submitters congenital disorder of deglycosylation 1
  • p.Arg411Ter Multiple submitters congenital disorder of deglycosylation 1
  • p.Arg458fs Multiple submitters congenital disorder of deglycosylation
  • p.Arg469Ter Multiple submitters NGLY1-related disorder
  • p.Arg586Ter Multiple submitters congenital disorder of deglycosylation
  • p.Asn415fs Multiple submitters Inborn genetic diseases
  • p.Asn511fs Multiple submitters congenital disorder of deglycosylation
  • p.Gln191Ter Multiple submitters congenital disorder of deglycosylation 1
  • p.Gln631fs Multiple submitters congenital disorder of deglycosylation 1
  • p.Leu302fs Multiple submitters congenital disorder of deglycosylation
  • p.Met524fs Multiple submitters congenital disorder of deglycosylation 1
  • p.Trp369Ter Multiple submitters Inborn genetic diseases
  • p.Trp535Ter Multiple submitters congenital disorder of deglycosylation
  • c.1612-1G>T Single submitter intellectual disability
  • c.1789+1G>T Single submitter
  • c.247-1G>A Single submitter congenital disorder of deglycosylation
  • c.247-2A>G Single submitter congenital disorder of deglycosylation
  • c.247-2A>T Single submitter congenital disorder of deglycosylation
  • p.Ala549fs Single submitter congenital disorder of deglycosylation
  • p.Ala93fs Single submitter congenital disorder of deglycosylation
  • p.Arg506fs Single submitter congenital disorder of deglycosylation
  • p.Arg506Ter Single submitter congenital disorder of deglycosylation
  • p.Asn178fs Single submitter congenital disorder of deglycosylation
  • p.Asn58fs Single submitter congenital disorder of deglycosylation
  • p.Asp261fs Single submitter
  • p.Asp534fs Single submitter congenital disorder of deglycosylation 1
  • p.Cys21Ter Single submitter congenital disorder of deglycosylation
  • p.Cys286fs Single submitter congenital disorder of deglycosylation
  • p.Cys484fs Single submitter congenital disorder of deglycosylation
  • p.Gln126Ter Single submitter congenital disorder of deglycosylation
  • p.Gln133Ter Single submitter congenital disorder of deglycosylation
  • p.Gln147fs Single submitter congenital disorder of deglycosylation
  • p.Gln22Ter Single submitter congenital disorder of deglycosylation
  • p.Gln422Ter Single submitter congenital disorder of deglycosylation
  • p.Gln435Ter Single submitter congenital disorder of deglycosylation
  • p.Gln492Ter Single submitter congenital disorder of deglycosylation
  • p.Gln591Ter Single submitter congenital disorder of deglycosylation
  • p.Gln628fs Single submitter congenital disorder of deglycosylation
  • p.Glu544fs Single submitter congenital disorder of deglycosylation
  • p.Glu582fs Single submitter congenital disorder of deglycosylation
  • p.Gly579fs Single submitter congenital disorder of deglycosylation
  • p.Gly79fs Single submitter congenital disorder of deglycosylation
  • p.Gly83Ter Single submitter congenital disorder of deglycosylation
  • p.His243fs Single submitter congenital disorder of deglycosylation
  • p.Ile101fs Single submitter congenital disorder of deglycosylation
  • p.Ile221fs Single submitter congenital disorder of deglycosylation
  • p.Leu43fs Single submitter congenital disorder of deglycosylation
  • p.Leu480_Phe481insTer Single submitter congenital disorder of deglycosylation
  • p.Leu6fs Single submitter congenital disorder of deglycosylation
  • p.Lys371fs Single submitter congenital disorder of deglycosylation
  • p.Lys477fs Single submitter congenital disorder of deglycosylation
  • p.Phe237Ser Single submitter Neurodevelopmental delay
  • p.Phe528fs Single submitter epilepsy
  • p.Pro188fs Single submitter congenital disorder of deglycosylation
  • p.Ser12Ter Single submitter congenital disorder of deglycosylation
  • p.Ser140Ter Single submitter congenital disorder of deglycosylation
  • p.Ser546fs Single submitter congenital disorder of deglycosylation
  • p.Thr164fs Single submitter congenital disorder of deglycosylation 1
  • p.Thr317delinsPhePhePhePhePhePheXaaXaaXaaXaaAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer Single submitter congenital disorder of deglycosylation
  • p.Trp244Ter Single submitter congenital disorder of deglycosylation
  • p.Trp273Ter Single submitter congenital disorder of deglycosylation
  • p.Trp389Ter Single submitter congenital disorder of deglycosylation
  • p.Trp517Ter Single submitter congenital disorder of deglycosylation
  • p.Trp583Ter Single submitter congenital disorder of deglycosylation
  • p.Tyr185Ter Single submitter congenital disorder of deglycosylation
  • p.Tyr333fs Single submitter congenital disorder of deglycosylation
  • p.Tyr333Ter Single submitter congenital disorder of deglycosylation
  • p.Tyr497Ter Single submitter congenital disorder of deglycosylation
  • p.Tyr504Ter Single submitter congenital disorder of deglycosylation
  • c.881+5G>T No assertion criteria congenital disorder of deglycosylation
  • p.Arg402del No assertion criteria congenital disorder of deglycosylation
  • p.Cys283Trp No assertion criteria congenital disorder of deglycosylation
  • p.Glu356Gly No assertion criteria congenital disorder of deglycosylation
  • p.Ile613fs No assertion criteria congenital disorder of deglycosylation
  • p.Ser116Ter No assertion criteria congenital disorder of deglycosylation
  • p.Trp244Arg No assertion criteria congenital disorder of deglycosylation

Pathogenic/Likely pathogenic 16

  • c.1150-1G>C Multiple submitters congenital disorder of deglycosylation 1
  • p.Ala60fs Multiple submitters congenital disorder of deglycosylation
  • p.Arg291Ter Multiple submitters congenital disorder of deglycosylation 1
  • p.Arg321Ter Multiple submitters congenital disorder of deglycosylation
  • p.Arg401Ter Multiple submitters NGLY1-related disorder
  • p.Arg542Ter Multiple submitters NGLY1-related disorder
  • p.Asp588fs Multiple submitters congenital disorder of deglycosylation 1
  • p.Gln208Ter Multiple submitters congenital disorder of deglycosylation 1
  • p.Glu311Lys Multiple submitters Neurodevelopmental delay
  • p.Glu397_Val398insTer Multiple submitters congenital disorder of deglycosylation
  • p.His281fs Multiple submitters congenital disorder of deglycosylation 1
  • p.His494fs Multiple submitters congenital disorder of deglycosylation
  • p.Ser14fs Multiple submitters congenital disorder of deglycosylation 1
  • p.Ser607fs Multiple submitters congenital disorder of deglycosylation
  • p.Thr575fs Multiple submitters congenital disorder of deglycosylation 1
  • p.Tyr342Cys Multiple submitters congenital disorder of deglycosylation 1

Likely pathogenic 31

  • c.658+1G>A Multiple submitters congenital disorder of deglycosylation
  • p.Arg328Cys Multiple submitters congenital disorder of deglycosylation 1
  • c.1003+2T>C Single submitter congenital disorder of deglycosylation
  • c.1260+1G>A Single submitter congenital disorder of deglycosylation 1
  • c.1426-1G>A Single submitter congenital disorder of deglycosylation
  • c.1611+1G>C Single submitter congenital disorder of deglycosylation
  • c.1611+1G>T Single submitter congenital disorder of deglycosylation
  • c.1789+1G>A Single submitter NGLY1-related disorder
  • c.1789+5G>A Single submitter
  • c.493-2A>G Single submitter congenital disorder of deglycosylation
  • p.Arg213fs Single submitter congenital disorder of deglycosylation 1
  • p.Arg390Gln Single submitter congenital disorder of deglycosylation
  • p.Arg390Pro Single submitter congenital disorder of deglycosylation
  • p.Asn638fs Single submitter
  • p.Gln97Ter Single submitter congenital disorder of deglycosylation 1
  • p.Glu432Ter Single submitter congenital disorder of deglycosylation
  • p.Glu84Ter Single submitter NGLY1-related disorder
  • p.Gly453fs Single submitter congenital disorder of deglycosylation
  • p.Ile105Ser Single submitter Abnormal brain morphology
  • p.Ile54fs Single submitter congenital disorder of deglycosylation 1
  • p.Pro344fs Single submitter congenital disorder of deglycosylation 1
  • p.Ser10Ter Single submitter congenital disorder of deglycosylation 1
  • p.Ser12fs Single submitter congenital disorder of deglycosylation 1
  • p.Ser267fs Single submitter
  • p.Ser636_Leu637insTer Single submitter congenital disorder of deglycosylation
  • p.Thr388fs Single submitter congenital disorder of deglycosylation 1
  • p.Trp236Ter Single submitter congenital disorder of deglycosylation 1
  • p.Trp627Ter Single submitter
  • p.Tyr375fs Single submitter congenital disorder of deglycosylation 1
  • p.Tyr603Ter Single submitter congenital disorder of deglycosylation 1
  • p.Cys286Tyr No assertion criteria congenital disorder of deglycosylation 1

Conflicting classifications of pathogenicity 23

  • c.492+4A>T Single submitter congenital disorder of deglycosylation
  • c.492+6G>A Single submitter congenital disorder of deglycosylation
  • p.Ala170Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg258Lys Single submitter congenital disorder of deglycosylation ⚠
  • p.Arg308Trp Single submitter congenital disorder of deglycosylation ⚠
  • p.Arg390Gly Single submitter congenital disorder of deglycosylation 1 ⚠
  • p.Asn290Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn509Asp Single submitter Inborn genetic diseases ⚠
  • p.Asp597Asn Single submitter congenital disorder of deglycosylation ⚠
  • p.Cys355Arg Single submitter congenital disorder of deglycosylation ⚠
  • p.Glu326_Ala327delinsAsp Single submitter congenital disorder of deglycosylation 1
  • p.Gly310= Single submitter congenital disorder of deglycosylation 1
  • p.His243Gln Single submitter congenital disorder of deglycosylation ⚠
  • p.His640Tyr Single submitter congenital disorder of deglycosylation ⚠
  • p.Ile223Val Single submitter congenital disorder of deglycosylation ⚠
  • p.Ile445Leu Single submitter Inborn genetic diseases ⚠
  • p.Leu318Pro Single submitter congenital disorder of deglycosylation ⚠
  • p.Leu423Gln Single submitter NGLY1-related disorder ⚠
  • p.Met1Thr Single submitter congenital disorder of deglycosylation
  • p.Met1Val Single submitter congenital disorder of deglycosylation 1
  • p.Phe651Ter Single submitter congenital disorder of deglycosylation 1
  • p.Ser140Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser599Asn Single submitter congenital disorder of deglycosylation ⚠

Benign 33

Benign/Likely benign 12

  • c.1003+15A>C Multiple submitters congenital disorder of deglycosylation
  • c.1261-11A>G Multiple submitters congenital disorder of deglycosylation
  • c.1790-12del Multiple submitters congenital disorder of deglycosylation
  • c.1790-12dup Multiple submitters congenital disorder of deglycosylation
  • c.493-19dup Multiple submitters congenital disorder of deglycosylation
  • c.881+8C>T Multiple submitters congenital disorder of deglycosylation
  • c.882-14dup Multiple submitters congenital disorder of deglycosylation
  • p.Asn41= Multiple submitters congenital disorder of deglycosylation
  • p.Cys484Ser Multiple submitters congenital disorder of deglycosylation
  • p.Gln574= Multiple submitters congenital disorder of deglycosylation
  • p.Thr479Ile Multiple submitters Inborn genetic diseases
  • p.Val184Phe Multiple submitters congenital disorder of deglycosylation ⚠

Likely benign 364

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

  • c.1149+43T>C Multiple submitters
  • c.131+11A>G Multiple submitters congenital disorder of deglycosylation
  • c.132-39G>T Multiple submitters
  • c.1789+17A>C Multiple submitters congenital disorder of deglycosylation
  • c.1790-80A>G Multiple submitters
  • c.-113C>T Multiple submitters
  • p.Ala130= Multiple submitters congenital disorder of deglycosylation
  • p.Ala130Thr Multiple submitters congenital disorder of deglycosylation
  • p.Ala194= Multiple submitters congenital disorder of deglycosylation
  • p.Arg215Gly Multiple submitters congenital disorder of deglycosylation ⚠
  • p.Arg503His Multiple submitters congenital disorder of deglycosylation
  • p.Asn247= Multiple submitters congenital disorder of deglycosylation
  • p.Asp261= Multiple submitters congenital disorder of deglycosylation
  • p.Gly324= Multiple submitters congenital disorder of deglycosylation
  • p.His536Gln Multiple submitters congenital disorder of deglycosylation
  • p.Ile527Val Multiple submitters congenital disorder of deglycosylation
  • p.Leu203= Multiple submitters congenital disorder of deglycosylation
  • p.Ser156= Multiple submitters congenital disorder of deglycosylation
  • p.Ser212= Multiple submitters congenital disorder of deglycosylation
  • p.Ser267= Multiple submitters congenital disorder of deglycosylation
  • p.Ser619= Multiple submitters congenital disorder of deglycosylation
  • p.Thr580= Multiple submitters congenital disorder of deglycosylation
  • p.Val581= Multiple submitters congenital disorder of deglycosylation
  • c.1003+13G>A Single submitter congenital disorder of deglycosylation
  • c.1003+13G>C Single submitter congenital disorder of deglycosylation
  • c.1003+17G>A Single submitter congenital disorder of deglycosylation
  • c.1003+18A>G Single submitter congenital disorder of deglycosylation
  • c.1003+20C>A Single submitter congenital disorder of deglycosylation
  • c.1003+20C>T Single submitter congenital disorder of deglycosylation
  • c.1003+7A>G Single submitter congenital disorder of deglycosylation
  • c.1003+8A>C Single submitter congenital disorder of deglycosylation
  • c.1004-11T>C Single submitter congenital disorder of deglycosylation
  • c.1004-15C>T Single submitter congenital disorder of deglycosylation
  • c.1004-20C>G Single submitter congenital disorder of deglycosylation
  • c.1004-235A>G Single submitter
  • c.1004-241C>T Single submitter
  • c.1004-379del Single submitter
  • c.1004-5A>G Single submitter congenital disorder of deglycosylation
  • c.1004-9C>A Single submitter congenital disorder of deglycosylation
  • c.1004-9C>T Single submitter congenital disorder of deglycosylation
  • c.1149+10A>T Single submitter congenital disorder of deglycosylation
  • c.1149+13A>G Single submitter
  • c.1149+14_1149+15del Single submitter congenital disorder of deglycosylation
  • c.1149+15A>G Single submitter congenital disorder of deglycosylation
  • c.1149+19A>T Single submitter congenital disorder of deglycosylation
  • c.1149+7C>G Single submitter congenital disorder of deglycosylation
  • c.1149+8A>G Single submitter congenital disorder of deglycosylation
  • c.1150-37A>G Single submitter
  • c.1150-5T>C Single submitter congenital disorder of deglycosylation
  • c.1150-6T>C Single submitter congenital disorder of deglycosylation
  • c.1150-7_1150-4del Single submitter congenital disorder of deglycosylation
  • c.1150-7G>A Single submitter congenital disorder of deglycosylation
  • c.1150-8T>C Single submitter congenital disorder of deglycosylation
  • c.1260+10G>A Single submitter congenital disorder of deglycosylation
  • c.1260+12C>G Single submitter congenital disorder of deglycosylation
  • c.1260+14_1260+17del Single submitter congenital disorder of deglycosylation
  • c.1260+14A>G Single submitter congenital disorder of deglycosylation
  • c.1260+15T>C Single submitter congenital disorder of deglycosylation
  • c.1260+16C>G Single submitter congenital disorder of deglycosylation
  • c.1260+16C>T Single submitter congenital disorder of deglycosylation
  • c.1260+17T>C Single submitter congenital disorder of deglycosylation
  • c.1260+20T>C Single submitter congenital disorder of deglycosylation
  • c.1260+7T>C Single submitter congenital disorder of deglycosylation
  • c.1261-11A>C Single submitter congenital disorder of deglycosylation
  • c.1261-12C>T Single submitter congenital disorder of deglycosylation
  • c.1261-13A>C Single submitter congenital disorder of deglycosylation
  • c.1261-15A>C Single submitter congenital disorder of deglycosylation
  • c.1261-15A>T Single submitter congenital disorder of deglycosylation
  • c.1261-19T>A Single submitter congenital disorder of deglycosylation
  • c.1261-48A>G Single submitter
  • c.131+10A>G Single submitter congenital disorder of deglycosylation
  • c.131+10A>T Single submitter congenital disorder of deglycosylation
  • c.131+12C>T Single submitter congenital disorder of deglycosylation
  • c.131+13G>C Single submitter congenital disorder of deglycosylation
  • c.131+15G>T Single submitter congenital disorder of deglycosylation
  • c.131+17T>A Single submitter congenital disorder of deglycosylation
  • c.131+18C>G Single submitter congenital disorder of deglycosylation
  • c.131+18C>T Single submitter congenital disorder of deglycosylation
  • c.131+38G>A Single submitter
  • c.131+8G>A Single submitter congenital disorder of deglycosylation
  • c.132-11T>C Single submitter congenital disorder of deglycosylation
  • c.132-15T>G Single submitter congenital disorder of deglycosylation
  • c.132-18dup Single submitter congenital disorder of deglycosylation
  • c.132-19A>C Single submitter congenital disorder of deglycosylation
  • c.132-19A>G Single submitter congenital disorder of deglycosylation
  • c.132-238del Single submitter
  • c.132-264dup Single submitter
  • c.132-8T>C Single submitter congenital disorder of deglycosylation
  • c.1425+15C>T Single submitter congenital disorder of deglycosylation
  • c.1425+20A>G Single submitter congenital disorder of deglycosylation
  • c.1425+50T>C Single submitter
  • c.1426-13C>T Single submitter congenital disorder of deglycosylation
  • c.1426-14G>A Single submitter congenital disorder of deglycosylation
  • c.1426-20A>G Single submitter congenital disorder of deglycosylation
  • c.1426-6T>C Single submitter congenital disorder of deglycosylation
  • c.1426-8T>G Single submitter congenital disorder of deglycosylation
  • c.1611+11G>A Single submitter congenital disorder of deglycosylation
  • c.1611+12C>G Single submitter congenital disorder of deglycosylation
  • c.1611+13A>G Single submitter congenital disorder of deglycosylation
  • c.1611+14T>C Single submitter congenital disorder of deglycosylation
  • c.1611+17A>C Single submitter congenital disorder of deglycosylation
  • c.1611+297A>G Single submitter
  • c.1611+9A>C Single submitter congenital disorder of deglycosylation
  • c.1612-10C>T Single submitter congenital disorder of deglycosylation
  • c.1612-12T>C Single submitter congenital disorder of deglycosylation
  • c.1612-15C>G Single submitter congenital disorder of deglycosylation
  • c.1612-16T>A Single submitter congenital disorder of deglycosylation
  • c.1612-18C>T Single submitter congenital disorder of deglycosylation
  • c.1612-4A>G Single submitter congenital disorder of deglycosylation
  • c.1789+12C>G Single submitter congenital disorder of deglycosylation
  • c.1789+14T>G Single submitter congenital disorder of deglycosylation
  • c.1789+16G>A Single submitter congenital disorder of deglycosylation
  • c.1789+174T>C Single submitter
  • c.1789+18G>T Single submitter congenital disorder of deglycosylation
  • c.1789+20_1789+21del Single submitter congenital disorder of deglycosylation
  • c.1789+8T>C Single submitter congenital disorder of deglycosylation
  • c.1790-12T>C Single submitter congenital disorder of deglycosylation
  • c.1790-18T>A Single submitter congenital disorder of deglycosylation
  • c.1790-6T>C Single submitter congenital disorder of deglycosylation
  • c.1790-7C>G Single submitter congenital disorder of deglycosylation
  • c.1790-8T>A Single submitter congenital disorder of deglycosylation
  • c.1790-9C>T Single submitter congenital disorder of deglycosylation
  • c.1790-9dup Single submitter congenital disorder of deglycosylation
  • c.246+11T>A Single submitter congenital disorder of deglycosylation
  • c.246+13A>C Single submitter congenital disorder of deglycosylation
  • c.246+15G>A Single submitter congenital disorder of deglycosylation
  • c.246+17A>T Single submitter congenital disorder of deglycosylation
  • c.246+19T>G Single submitter congenital disorder of deglycosylation
  • c.246+8T>C Single submitter congenital disorder of deglycosylation
  • c.247-12T>C Single submitter congenital disorder of deglycosylation
  • c.247-13T>G Single submitter congenital disorder of deglycosylation
  • c.247-14T>C Single submitter congenital disorder of deglycosylation
  • c.247-17A>G Single submitter congenital disorder of deglycosylation
  • c.247-18T>A Single submitter congenital disorder of deglycosylation
  • c.247-6T>C Single submitter congenital disorder of deglycosylation
  • c.492+15A>G Single submitter congenital disorder of deglycosylation
  • c.492+18C>T Single submitter congenital disorder of deglycosylation
  • c.492+19C>T Single submitter congenital disorder of deglycosylation
  • c.492+287G>A Single submitter
  • c.492+7T>C Single submitter congenital disorder of deglycosylation
  • c.492+8del Single submitter congenital disorder of deglycosylation
  • c.493-14T>C Single submitter congenital disorder of deglycosylation
  • c.493-15T>G Single submitter congenital disorder of deglycosylation
  • c.493-18T>A Single submitter congenital disorder of deglycosylation
  • c.493-19T>G Single submitter congenital disorder of deglycosylation
  • c.493-232A>G Single submitter
  • c.493-5A>G Single submitter congenital disorder of deglycosylation
  • c.493-5A>T Single submitter
  • c.493-5dup Single submitter congenital disorder of deglycosylation
  • c.493-7del Single submitter congenital disorder of deglycosylation
  • c.493-8C>T Single submitter
  • c.493-9T>C Single submitter congenital disorder of deglycosylation
  • c.658+14A>G Single submitter congenital disorder of deglycosylation
  • c.658+14A>T Single submitter congenital disorder of deglycosylation
  • c.658+18T>G Single submitter congenital disorder of deglycosylation
  • c.658+20A>T Single submitter congenital disorder of deglycosylation
  • c.658+7G>C Single submitter congenital disorder of deglycosylation
  • c.659-10A>T Single submitter congenital disorder of deglycosylation
  • c.659-15C>G Single submitter congenital disorder of deglycosylation
  • c.659-17C>T Single submitter congenital disorder of deglycosylation
  • c.659-19T>A Single submitter congenital disorder of deglycosylation
  • c.659-20dup Single submitter congenital disorder of deglycosylation
  • c.881+10C>G Single submitter congenital disorder of deglycosylation
  • c.881+10C>T Single submitter congenital disorder of deglycosylation
  • c.881+12G>C Single submitter congenital disorder of deglycosylation
  • c.881+16G>A Single submitter congenital disorder of deglycosylation
  • c.881+17G>A Single submitter congenital disorder of deglycosylation
  • c.881+18T>C Single submitter congenital disorder of deglycosylation
  • c.881+9C>T Single submitter congenital disorder of deglycosylation
  • c.882-13dup Single submitter congenital disorder of deglycosylation
  • c.882-18T>C Single submitter congenital disorder of deglycosylation
  • c.882-19T>G Single submitter congenital disorder of deglycosylation
  • c.882-225G>A Single submitter
  • c.882-7A>T Single submitter congenital disorder of deglycosylation
  • c.882-9T>G Single submitter congenital disorder of deglycosylation
  • c.-157T>C Single submitter
  • p.Ala129= Single submitter congenital disorder of deglycosylation
  • p.Ala13= Single submitter congenital disorder of deglycosylation
  • p.Ala16= Single submitter congenital disorder of deglycosylation
  • p.Ala166= Single submitter congenital disorder of deglycosylation
  • p.Ala189= Single submitter congenital disorder of deglycosylation
  • p.Ala196= Single submitter congenital disorder of deglycosylation
  • p.Ala2= Single submitter congenital disorder of deglycosylation
  • p.Ala214= Single submitter congenital disorder of deglycosylation
  • p.Ala31= Single submitter congenital disorder of deglycosylation
  • p.Ala313= Single submitter congenital disorder of deglycosylation
  • p.Ala354= Single submitter congenital disorder of deglycosylation
  • p.Ala378= Single submitter congenital disorder of deglycosylation
  • p.Ala4= Single submitter congenital disorder of deglycosylation
  • p.Ala408= Single submitter congenital disorder of deglycosylation
  • p.Ala5= Single submitter congenital disorder of deglycosylation
  • p.Ala60= Single submitter congenital disorder of deglycosylation
  • p.Ala616= Single submitter congenital disorder of deglycosylation
  • p.Arg112= Single submitter congenital disorder of deglycosylation
  • p.Arg150= Single submitter congenital disorder of deglycosylation
  • p.Arg215= Single submitter congenital disorder of deglycosylation
  • p.Arg321= Single submitter congenital disorder of deglycosylation
  • p.Arg348= Single submitter congenital disorder of deglycosylation
  • p.Arg390= Single submitter congenital disorder of deglycosylation
  • p.Arg401= Single submitter congenital disorder of deglycosylation
  • p.Arg421= Single submitter congenital disorder of deglycosylation
  • p.Arg52= Single submitter congenital disorder of deglycosylation
  • p.Arg55= Single submitter congenital disorder of deglycosylation
  • p.Arg586= Single submitter congenital disorder of deglycosylation
  • p.Arg69= Single submitter congenital disorder of deglycosylation
  • p.Asn117= Single submitter congenital disorder of deglycosylation
  • p.Asn151= Single submitter congenital disorder of deglycosylation
  • p.Asn222= Single submitter congenital disorder of deglycosylation
  • p.Asn47= Single submitter congenital disorder of deglycosylation
  • p.Asn598= Single submitter congenital disorder of deglycosylation
  • p.Asp225= Single submitter congenital disorder of deglycosylation
  • p.Asp268= Single submitter congenital disorder of deglycosylation
  • p.Asp565= Single submitter congenital disorder of deglycosylation
  • p.Asp588= Single submitter congenital disorder of deglycosylation
  • p.Asp639= Single submitter congenital disorder of deglycosylation
  • p.Cys197= Single submitter congenital disorder of deglycosylation
  • p.Cys250= Single submitter congenital disorder of deglycosylation
  • p.Cys320= Single submitter congenital disorder of deglycosylation
  • p.Cys393= Single submitter congenital disorder of deglycosylation
  • p.Cys496= Single submitter congenital disorder of deglycosylation
  • p.Gln127= Single submitter congenital disorder of deglycosylation
  • p.Gln155= Single submitter congenital disorder of deglycosylation
  • p.Gln176= Single submitter congenital disorder of deglycosylation
  • p.Gln201= Single submitter congenital disorder of deglycosylation
  • p.Gln287= Single submitter
  • p.Gln346= Single submitter congenital disorder of deglycosylation
  • p.Gln422= Single submitter congenital disorder of deglycosylation
  • p.Gln435= Single submitter congenital disorder of deglycosylation
  • p.Gln97His Single submitter congenital disorder of deglycosylation
  • p.Glu173= Single submitter congenital disorder of deglycosylation
  • p.Glu19= Single submitter congenital disorder of deglycosylation
  • p.Glu226= Single submitter congenital disorder of deglycosylation
  • p.Glu240= Single submitter congenital disorder of deglycosylation
  • p.Glu279= Single submitter congenital disorder of deglycosylation
  • p.Glu326= Single submitter congenital disorder of deglycosylation
  • p.Glu356= Single submitter congenital disorder of deglycosylation
  • p.Glu396= Single submitter congenital disorder of deglycosylation
  • p.Glu397= Single submitter congenital disorder of deglycosylation
  • p.Glu544= Single submitter congenital disorder of deglycosylation
  • p.Glu556= Single submitter congenital disorder of deglycosylation
  • p.Glu641= Single submitter congenital disorder of deglycosylation
  • p.Glu81= Single submitter congenital disorder of deglycosylation
  • p.Glu96= Single submitter congenital disorder of deglycosylation
  • p.Gly154= Single submitter congenital disorder of deglycosylation
  • p.Gly368= Single submitter congenital disorder of deglycosylation
  • p.Gly370= Single submitter congenital disorder of deglycosylation
  • p.Gly416= Single submitter congenital disorder of deglycosylation
  • p.Gly461= Single submitter congenital disorder of deglycosylation
  • p.Gly473= Single submitter congenital disorder of deglycosylation
  • p.Gly520= Single submitter congenital disorder of deglycosylation
  • p.Gly545= Single submitter congenital disorder of deglycosylation
  • p.Gly7= Single submitter congenital disorder of deglycosylation
  • p.Gly79= Single submitter congenital disorder of deglycosylation
  • p.His243= Single submitter congenital disorder of deglycosylation
  • p.His336= Single submitter congenital disorder of deglycosylation
  • p.His395= Single submitter congenital disorder of deglycosylation
  • p.His494= Single submitter congenital disorder of deglycosylation
  • p.His601Arg Single submitter Inborn genetic diseases
  • p.His629= Single submitter congenital disorder of deglycosylation
  • p.His640= Single submitter congenital disorder of deglycosylation
  • p.Ile221= Single submitter congenital disorder of deglycosylation
  • p.Ile377= Single submitter congenital disorder of deglycosylation
  • p.Ile42= Single submitter congenital disorder of deglycosylation
  • p.Ile54= Single submitter congenital disorder of deglycosylation
  • p.Ile647= Single submitter congenital disorder of deglycosylation
  • p.Leu172= Single submitter congenital disorder of deglycosylation
  • p.Leu230= Single submitter congenital disorder of deglycosylation
  • p.Leu249= Single submitter congenital disorder of deglycosylation
  • p.Leu265= Single submitter congenital disorder of deglycosylation
  • p.Leu29= Single submitter congenital disorder of deglycosylation
  • p.Leu302= Single submitter congenital disorder of deglycosylation
  • p.Leu318= Single submitter congenital disorder of deglycosylation
  • p.Leu35= Single submitter congenital disorder of deglycosylation
  • p.Leu350= Single submitter congenital disorder of deglycosylation
  • p.Leu36= Single submitter congenital disorder of deglycosylation
  • p.Leu409= Single submitter congenital disorder of deglycosylation
  • p.Leu434= Single submitter congenital disorder of deglycosylation
  • p.Leu474= Single submitter congenital disorder of deglycosylation
  • p.Leu495= Single submitter congenital disorder of deglycosylation
  • p.Leu562= Single submitter congenital disorder of deglycosylation
  • p.Leu594= Single submitter
  • p.Leu6= Single submitter congenital disorder of deglycosylation
  • p.Leu645= Single submitter congenital disorder of deglycosylation
  • p.Leu65= Single submitter congenital disorder of deglycosylation
  • p.Leu66= Single submitter congenital disorder of deglycosylation
  • p.Leu98= Single submitter congenital disorder of deglycosylation
  • p.Lys123= Single submitter congenital disorder of deglycosylation
  • p.Lys204= Single submitter congenital disorder of deglycosylation
  • p.Lys216= Single submitter congenital disorder of deglycosylation
  • p.Lys272= Single submitter congenital disorder of deglycosylation
  • p.Lys404= Single submitter congenital disorder of deglycosylation
  • p.Lys406= Single submitter congenital disorder of deglycosylation
  • p.Lys419= Single submitter congenital disorder of deglycosylation
  • p.Lys431= Single submitter congenital disorder of deglycosylation
  • p.Lys451= Single submitter congenital disorder of deglycosylation
  • p.Lys477= Single submitter congenital disorder of deglycosylation
  • p.Lys501= Single submitter congenital disorder of deglycosylation
  • p.Lys554= Single submitter congenital disorder of deglycosylation
  • p.Lys584= Single submitter congenital disorder of deglycosylation
  • p.Lys650= Single submitter congenital disorder of deglycosylation

Uncertain significance 323

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