COG4 — 450 ClinVar variants
All ClinVar germline COG4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
17 Pathogenic · 4 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 13 Conflicting · 45 Benign · 5 Benign/Likely benign · 101 Likely benign · 252 Uncertain significance
Full COG4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll COG4 variants
Pathogenic 17
- p.Glu614Ter Multiple submitters Delayed gross motor development
- p.Gly516Arg Multiple submitters microcephalic osteodysplastic dysplasia, Saul-Wilson type
- c.1828delG Single submitter COG4-Related Disorders
- c.844+1G>A Single submitter
- c.844+2T>A Single submitter
- p.Ala480fs Single submitter COG4-congenital disorder of glycosylation
- p.Ala717fs Single submitter Fetal anomalies with a likely genetic cause
- p.Arg375fs Single submitter COG4-congenital disorder of glycosylation
- p.Glu295Ter Single submitter COG4-congenital disorder of glycosylation
- p.Glu419Ter Single submitter COG4-congenital disorder of glycosylation
- p.Glu711fs Single submitter Fetal anomalies with a likely genetic cause
- p.Gly537fs Single submitter COG4-congenital disorder of glycosylation
- p.Lys200fs Single submitter COG4-congenital disorder of glycosylation
- p.Thr3fs Single submitter COG4-congenital disorder of glycosylation
- p.Trp652Ter Single submitter COG4-congenital disorder of glycosylation
- p.Glu233Ter No assertion criteria COG4-congenital disorder of glycosylation
- p.Leu773Arg No assertion criteria COG4-congenital disorder of glycosylation
Pathogenic/Likely pathogenic 4
- p.Arg177Ter Multiple submitters COG4-Related Disorders
- p.Arg733Trp Multiple submitters COG4-congenital disorder of glycosylation
- p.Gly25Ter Multiple submitters COG4-congenital disorder of glycosylation
- p.Leu552fs Multiple submitters COG4-related disorder
Likely pathogenic 13
- c.1002+1G>T Single submitter microcephalic osteodysplastic dysplasia, Saul-Wilson type
- c.369+1_369+2del Single submitter COG4-congenital disorder of glycosylation
- c.544+1G>T Single submitter COG4-congenital disorder of glycosylation
- c.739-1G>C Single submitter COG4-congenital disorder of glycosylation
- p.Ala520Thr Single submitter
- p.Ala669Val Single submitter microcephalic osteodysplastic dysplasia, Saul-Wilson type
- p.Cys314Tyr Single submitter COG4-congenital disorder of glycosylation
- p.Gln97Ter Single submitter COG4-congenital disorder of glycosylation
- p.Gly145Ter Single submitter microcephalic osteodysplastic dysplasia, Saul-Wilson type
- p.Lys603fs Single submitter
- p.Met5Ile Single submitter
- p.Tyr430Ter Single submitter COG4-congenital disorder of glycosylation
- p.Ala669Pro No assertion criteria
Conflicting classifications of pathogenicity 13
- p.Arg770= Single submitter COG4-congenital disorder of glycosylation
- p.Asp677Gly Single submitter COG4-congenital disorder of glycosylation
- p.Asp751Asn Single submitter COG4-congenital disorder of glycosylation
- p.Gly23Glu Single submitter Inborn genetic diseases
- p.Gly681Ser Single submitter Inborn genetic diseases
- p.Ile351fs Single submitter COG4-congenital disorder of glycosylation
- p.Lys180Arg Single submitter COG4-congenital disorder of glycosylation
- p.Phe376Leu Single submitter COG4-congenital disorder of glycosylation
- p.Phe632Leu Single submitter Inborn genetic diseases
- p.Phe643Leu Single submitter COG4-congenital disorder of glycosylation
- p.Pro358Thr Single submitter Inborn genetic diseases
- p.Ser21Pro Single submitter Inborn genetic diseases
- p.Ser472Asn Single submitter COG4-congenital disorder of glycosylation
Benign 45
- c.1002+23A>G Multiple submitters
- c.1003-30G>C Multiple submitters
- c.1195+8C>T Multiple submitters COG4-congenital disorder of glycosylation
- c.1314+86A>C Multiple submitters COG4-congenital disorder of glycosylation
- c.1315-76G>A Multiple submitters
- c.1482-25T>C Multiple submitters microcephalic osteodysplastic dysplasia, Saul-Wilson type
- c.1482-50G>A Multiple submitters
- c.171+161C>A Multiple submitters
- c.171+18T>C Multiple submitters COG4-congenital disorder of glycosylation
- c.1710+17C>G Multiple submitters COG4-congenital disorder of glycosylation
- c.1827+115C>T Multiple submitters
- c.1920+154A>G Multiple submitters
- c.1920+242C>T Multiple submitters
- c.1921-150G>C Multiple submitters
- c.1921-31C>T Multiple submitters
- c.2106+67A>C Multiple submitters
- c.2236-16A>G Multiple submitters COG4-congenital disorder of glycosylation
- c.254+170C>G Multiple submitters
- c.369+60A>G Multiple submitters
- c.370-123G>A Multiple submitters
- c.370-175T>C Multiple submitters
- c.544+19T>A Multiple submitters COG4-congenital disorder of glycosylation
- c.545-61G>A Multiple submitters
- c.739-9C>G Multiple submitters COG4-congenital disorder of glycosylation
- c.*85T>G Multiple submitters
- p.Leu216= Multiple submitters microcephalic osteodysplastic dysplasia, Saul-Wilson type
- p.Ser714= Multiple submitters microcephalic osteodysplastic dysplasia, Saul-Wilson type
- p.Thr162Ile Multiple submitters microcephalic osteodysplastic dysplasia, Saul-Wilson type
- p.Thr721= Multiple submitters COG4-congenital disorder of glycosylation
- c.1061+149A>C Single submitter
- c.1196-217_1196-216del Single submitter
- c.1482-213C>T Single submitter
- c.172-268C>T Single submitter
- c.1920+255_1920+260del Single submitter
- c.255-209dup Single submitter
- c.255-229A>G Single submitter
- c.255-324C>A Single submitter
- c.369+15dup Single submitter
- c.369+182A>T Single submitter
- c.369+213G>T Single submitter
- c.369+245T>C Single submitter
- c.369+37_369+38del Single submitter
- c.369+38del Single submitter
- c.370-19G>A Single submitter COG4-congenital disorder of glycosylation
- c.738+208_738+209insT Single submitter
Benign/Likely benign 5
- c.845-18T>C Multiple submitters COG4-congenital disorder of glycosylation
- p.Ala520= Multiple submitters COG4-congenital disorder of glycosylation
- p.Gln587Lys Multiple submitters COG4-congenital disorder of glycosylation
- p.Pro358= Multiple submitters COG4-congenital disorder of glycosylation
- p.Thr535= Multiple submitters COG4-congenital disorder of glycosylation
Likely benign 101
- c.1002+51C>T Multiple submitters
- c.1314+14C>T Multiple submitters COG4-congenital disorder of glycosylation
- c.1647+20C>T Multiple submitters COG4-congenital disorder of glycosylation
- c.1647+49A>G Multiple submitters
- c.1827+12G>C Multiple submitters COG4-congenital disorder of glycosylation
- c.1921-80C>T Multiple submitters
- c.369+13G>T Multiple submitters COG4-congenital disorder of glycosylation
- c.845-88C>T Multiple submitters
- p.Arg198Cys Multiple submitters COG4-congenital disorder of glycosylation
- p.Asp186= Multiple submitters COG4-congenital disorder of glycosylation
- p.Asp389= Multiple submitters
- p.Gln339= Multiple submitters COG4-congenital disorder of glycosylation
- p.Ile271Val Multiple submitters COG4-congenital disorder of glycosylation
- p.Ile749= Multiple submitters COG4-congenital disorder of glycosylation
- p.Leu760= Multiple submitters COG4-congenital disorder of glycosylation
- p.Phe335= Multiple submitters COG4-congenital disorder of glycosylation
- c.1002+13A>G Single submitter COG4-congenital disorder of glycosylation
- c.1061+75G>C Single submitter
- c.1195+16A>G Single submitter COG4-congenital disorder of glycosylation
- c.1195+275T>A Single submitter
- c.1196-123T>C Single submitter
- c.1314+12G>A Single submitter COG4-congenital disorder of glycosylation
- c.1314+15G>A Single submitter COG4-congenital disorder of glycosylation
- c.1314+38C>T Single submitter
- c.1315-6G>T Single submitter COG4-congenital disorder of glycosylation
- c.1481+11C>T Single submitter
- c.1481+12T>C Single submitter COG4-congenital disorder of glycosylation
- c.1482-8dup Single submitter
- c.1647+13C>T Single submitter COG4-congenital disorder of glycosylation
- c.1648-12C>T Single submitter COG4-congenital disorder of glycosylation
- c.1648-144G>A Single submitter
- c.1648-9A>C Single submitter COG4-congenital disorder of glycosylation
- c.171+10C>A Single submitter COG4-congenital disorder of glycosylation
- c.171+3G>A Single submitter COG4-congenital disorder of glycosylation
- c.171+63G>C Single submitter
- c.1710+14T>C Single submitter
- c.1711-10T>C Single submitter COG4-congenital disorder of glycosylation
- c.1711-329C>G Single submitter
- c.172-11C>T Single submitter COG4-congenital disorder of glycosylation
- c.172-14T>A Single submitter COG4-congenital disorder of glycosylation
- c.1828-10C>A Single submitter
- c.1921-9T>C Single submitter
- c.2004+10G>A Single submitter COG4-congenital disorder of glycosylation
- c.2005-10C>G Single submitter COG4-congenital disorder of glycosylation
- c.2107-18G>A Single submitter COG4-congenital disorder of glycosylation
- c.2236-17dup Single submitter
- c.254+7C>T Single submitter
- c.369+14C>T Single submitter COG4-congenital disorder of glycosylation
- c.369+14dup Single submitter COG4-congenital disorder of glycosylation
- c.369+15_369+16dup Single submitter
- c.369+36_369+38del Single submitter
- c.544+40T>C Single submitter
- c.739-8T>C Single submitter COG4-congenital disorder of glycosylation
- c.844+16C>T Single submitter COG4-congenital disorder of glycosylation
- c.844+17G>A Single submitter COG4-congenital disorder of glycosylation
- c.845-12C>G Single submitter
- c.845-19A>G Single submitter COG4-congenital disorder of glycosylation
- c.*7G>C Single submitter
- p.Ala109= Single submitter COG4-congenital disorder of glycosylation
- p.Ala34Thr Single submitter Inborn genetic diseases
- p.Ala544= Single submitter COG4-congenital disorder of glycosylation
- p.Ala6= Single submitter
- p.Arg375Cys Single submitter COG4-congenital disorder of glycosylation
- p.Asn124= Single submitter COG4-congenital disorder of glycosylation
- p.Asn649= Single submitter
- p.Asn756= Single submitter COG4-congenital disorder of glycosylation
- p.Asp512= Single submitter COG4-congenital disorder of glycosylation
- p.Asp650= Single submitter COG4-congenital disorder of glycosylation
- p.Cys167= Single submitter COG4-congenital disorder of glycosylation
- p.Gly2= Single submitter COG4-congenital disorder of glycosylation
- p.Gly299= Single submitter COG4-congenital disorder of glycosylation
- p.Gly754= Single submitter
- p.Ile351= Single submitter
- p.Ile359= Single submitter
- p.Ile620Val Single submitter Inborn genetic diseases
- p.Leu137= Single submitter
- p.Leu228= Single submitter
- p.Leu255= Single submitter
- p.Leu303= Single submitter COG4-congenital disorder of glycosylation
- p.Leu365= Single submitter COG4-congenital disorder of glycosylation
- p.Leu372= Single submitter COG4-congenital disorder of glycosylation
- p.Leu478= Single submitter COG4-congenital disorder of glycosylation
- p.Leu660= Single submitter COG4-congenital disorder of glycosylation
- p.Lys170= Single submitter COG4-congenital disorder of glycosylation
- p.Pro11= Single submitter
- p.Pro673= Single submitter
- p.Ser113= Single submitter COG4-congenital disorder of glycosylation
- p.Ser171= Single submitter COG4-congenital disorder of glycosylation
- p.Ser781= Single submitter COG4-congenital disorder of glycosylation
- p.Thr41= Single submitter COG4-congenital disorder of glycosylation
- p.Thr574= Single submitter COG4-congenital disorder of glycosylation
- p.Thr613= Single submitter COG4-congenital disorder of glycosylation
- p.Tyr50= Single submitter COG4-congenital disorder of glycosylation
- p.Val294= Single submitter
- p.Val689= Single submitter COG4-congenital disorder of glycosylation
- c.369+5T>G No assertion criteria COG4-related disorder
- c.545-4G>A No assertion criteria COG4-related disorder
- p.Arg515= No assertion criteria COG4-related disorder
- p.Asp7= No assertion criteria COG4-related disorder
- p.Glu539= No assertion criteria COG4-related disorder
- p.Pro20= No assertion criteria COG4-related disorder
Uncertain significance 252
- p.Ala251Thr Multiple submitters Inborn genetic diseases
- p.Ala544Val Multiple submitters Inborn genetic diseases
- p.Ala599Thr Multiple submitters Inborn genetic diseases
- p.Arg177Gln Multiple submitters Inborn genetic diseases
- p.Arg198His Multiple submitters Inborn genetic diseases
- p.Arg266Gln Multiple submitters Inborn genetic diseases
- p.Arg285Cys Multiple submitters Inborn genetic diseases
- p.Arg468Gln Multiple submitters COG4-related disorder
- p.Arg763His Multiple submitters Inborn genetic diseases
- p.Arg786Ser Multiple submitters COG4-congenital disorder of glycosylation
- p.Arg788His Multiple submitters Inborn genetic diseases
- p.Asn188Ser Multiple submitters Inborn genetic diseases
- p.Asn437Asp Multiple submitters Inborn genetic diseases
- p.Asn437Ser Multiple submitters Inborn genetic diseases
- p.Asn644Ser Multiple submitters COG4-congenital disorder of glycosylation
- p.Asn742Ser Multiple submitters Inborn genetic diseases
- p.Asp215Gly Multiple submitters Inborn genetic diseases
- p.Asp650Asn Multiple submitters Inborn genetic diseases
- p.Cys403Tyr Multiple submitters Inborn genetic diseases
- p.Gln89Pro Multiple submitters COG4-congenital disorder of glycosylation
- p.Glu241Gly Multiple submitters COG4-congenital disorder of glycosylation
- p.Glu352Lys Multiple submitters Inborn genetic diseases
- p.Gly179Asp Multiple submitters Inborn genetic diseases
- p.Ile173Phe Multiple submitters COG4-congenital disorder of glycosylation
- p.Ile466Thr Multiple submitters Inborn genetic diseases
- p.Leu14Pro Multiple submitters Inborn genetic diseases
- p.Lys200Arg Multiple submitters Inborn genetic diseases
- p.Met5Thr Multiple submitters Inborn genetic diseases
- p.Pro12Leu Multiple submitters COG4-congenital disorder of glycosylation
- p.Pro20Leu Multiple submitters Inborn genetic diseases
- p.Ser453Ile Multiple submitters Inborn genetic diseases
- p.Thr613Met Multiple submitters Inborn genetic diseases
- p.Thr699Ala Multiple submitters Inborn genetic diseases
- p.Thr765Ala Multiple submitters COG4-congenital disorder of glycosylation
- p.Val49Leu Multiple submitters Inborn genetic diseases
- p.Val521Met Multiple submitters COG4-congenital disorder of glycosylation
- p.Val555Met Multiple submitters COG4-congenital disorder of glycosylation
- p.Val600Met Multiple submitters Inborn genetic diseases
- p.Val634Ile Multiple submitters Inborn genetic diseases
- c.1061+3A>T Single submitter Inborn genetic diseases
- c.1196-7C>G Single submitter
- c.1482-3C>G Single submitter
- c.1482-7C>G Single submitter COG4-congenital disorder of glycosylation
- c.1647+5G>T Single submitter
- c.1711-22T>C Single submitter COG4-congenital disorder of glycosylation
- c.172-7_172-6del Single submitter
- c.2004+2T>C Single submitter COG4-congenital disorder of glycosylation
- c.2106+4A>G Single submitter COG4-congenital disorder of glycosylation
- p.Ala133Thr Single submitter COG4-congenital disorder of glycosylation
- p.Ala133Val Single submitter COG4-congenital disorder of glycosylation
- p.Ala204Val Single submitter Inborn genetic diseases
- p.Ala210Val Single submitter
- p.Ala273Glu Single submitter Inborn genetic diseases
- p.Ala34Val Single submitter microcephalic osteodysplastic dysplasia, Saul-Wilson type
- p.Ala507Thr Single submitter Inborn genetic diseases
- p.Ala586Val Single submitter Inborn genetic diseases
- p.Ala648Gly Single submitter Inborn genetic diseases
- p.Ala717Val Single submitter Inborn genetic diseases
- p.Arg117Cys Single submitter COG4-congenital disorder of glycosylation
- p.Arg125Cys Single submitter Inborn genetic diseases
- p.Arg151Gly Single submitter Inborn genetic diseases
- p.Arg164Cys Single submitter microcephalic osteodysplastic dysplasia, Saul-Wilson type
- p.Arg221Cys Single submitter Inborn genetic diseases
- p.Arg221His Single submitter Inborn genetic diseases
- p.Arg266Trp Single submitter Inborn genetic diseases
- p.Arg285His Single submitter
- p.Arg28Leu Single submitter COG4-congenital disorder of glycosylation
- p.Arg302Ser Single submitter Inborn genetic diseases
- p.Arg316= Single submitter
- p.Arg336Gln Single submitter Inborn genetic diseases
- p.Arg336Trp Single submitter COG4-congenital disorder of glycosylation
- p.Arg369Cys Single submitter Inborn genetic diseases
- p.Arg369His Single submitter COG4-congenital disorder of glycosylation
- p.Arg375His Single submitter COG4-congenital disorder of glycosylation
- p.Arg380Ser Single submitter Inborn genetic diseases
- p.Arg502Gln Single submitter Inborn genetic diseases
- p.Arg502Trp Single submitter Inborn genetic diseases
- p.Arg702Gln Single submitter Inborn genetic diseases
- p.Arg702Leu Single submitter COG4-congenital disorder of glycosylation
- p.Arg702Trp Single submitter COG4-congenital disorder of glycosylation
- p.Arg733Gln Single submitter Inborn genetic diseases
- p.Arg763Cys Single submitter Inborn genetic diseases
- p.Arg770Cys Single submitter Inborn genetic diseases
- p.Arg770His Single submitter Inborn genetic diseases
- p.Arg776Gln Single submitter Inborn genetic diseases
- p.Arg776Trp Single submitter Inborn genetic diseases
- p.Arg780Leu Single submitter microcephalic osteodysplastic dysplasia, Saul-Wilson type
- p.Arg786Gly Single submitter
- p.Arg788Cys Single submitter COG4-congenital disorder of glycosylation
- p.Arg83Gln Single submitter COG4-congenital disorder of glycosylation
- p.Asn107Ile Single submitter Inborn genetic diseases
- p.Asn107Ser Single submitter COG4-congenital disorder of glycosylation
- p.Asn124Asp Single submitter Inborn genetic diseases
- p.Asn188His Single submitter Inborn genetic diseases
- p.Asn341Tyr Single submitter Inborn genetic diseases
- p.Asn616Thr Single submitter Inborn genetic diseases
- p.Asn637Ile Single submitter Inborn genetic diseases
- p.Asn701Ser Single submitter Inborn genetic diseases
- p.Asn742Asp Single submitter Inborn genetic diseases
- p.Asp265Asn Single submitter COG4-congenital disorder of glycosylation
- p.Asp265His Single submitter Inborn genetic diseases
- p.Asp274His Single submitter Inborn genetic diseases
- p.Asp457Tyr Single submitter COG4-congenital disorder of glycosylation
- p.Asp542Tyr Single submitter COG4-congenital disorder of glycosylation
- p.Asp606His Single submitter COG4-congenital disorder of glycosylation
- p.Asp650His Single submitter COG4-congenital disorder of glycosylation
- p.Asp677Asn Single submitter COG4-congenital disorder of glycosylation
- p.Asp778His Single submitter COG4-related disorder
- p.Asp783Gly Single submitter
- p.Asp9Glu Single submitter COG4-congenital disorder of glycosylation
- p.Cys106Tyr Single submitter
- p.Cys167Tyr Single submitter
- p.Cys498Arg Single submitter Inborn genetic diseases
- p.Gln128Arg Single submitter
- p.Gln18Arg Single submitter
- p.Gln401Arg Single submitter COG4-congenital disorder of glycosylation
- p.Gln401Glu Single submitter Inborn genetic diseases
- p.Gln514His Single submitter COG4-congenital disorder of glycosylation
- p.Gln625Arg Single submitter Inborn genetic diseases
- p.Gln625His Single submitter COG4-congenital disorder of glycosylation
- p.Gln654Arg Single submitter Inborn genetic diseases
- p.Gln707Arg Single submitter Inborn genetic diseases
- p.Gln71Glu Single submitter Inborn genetic diseases
- p.Gln736His Single submitter Inborn genetic diseases
- p.Gln89Lys Single submitter COG4-congenital disorder of glycosylation
- p.Glu181= Single submitter COG4-congenital disorder of glycosylation
- p.Glu22Asp Single submitter Inborn genetic diseases
- p.Glu288Gly Single submitter COG4-congenital disorder of glycosylation
- p.Glu355Val Single submitter COG4-congenital disorder of glycosylation
- p.Glu42Asp Single submitter Inborn genetic diseases
- p.Glu488Asp Single submitter COG4-congenital disorder of glycosylation
- p.Glu488Lys Single submitter Inborn genetic diseases
- p.Glu490Lys Single submitter
- p.Glu51Gln Single submitter COG4-congenital disorder of glycosylation
- p.Glu539Lys Single submitter Inborn genetic diseases
- p.Glu543Lys Single submitter COG4-congenital disorder of glycosylation
- p.Glu560Lys Single submitter Inborn genetic diseases
- p.Glu570Gly Single submitter COG4-congenital disorder of glycosylation
- p.Glu57Lys Single submitter COG4-congenital disorder of glycosylation
- p.Glu692Asp Single submitter COG4-congenital disorder of glycosylation
- p.Glu748Lys Single submitter Inborn genetic diseases
- p.Gly145Ala Single submitter COG4-congenital disorder of glycosylation
- p.Gly26Ala Single submitter Inborn genetic diseases
- p.Gly583Glu Single submitter
- p.Gly705Ala Single submitter COG4-congenital disorder of glycosylation
- p.Gly85Asp Single submitter COG4-related disorder
- p.Ile173Thr Single submitter
- p.Ile209Val Single submitter COG4-congenital disorder of glycosylation
- p.Ile283Phe Single submitter Inborn genetic diseases
- p.Ile286Met Single submitter Inborn genetic diseases
- p.Ile326Met Single submitter
- p.Ile32Val Single submitter Inborn genetic diseases
- p.Ile381Ser Single submitter Inborn genetic diseases
- p.Ile381Val Single submitter COG4-congenital disorder of glycosylation
- p.Ile482Met Single submitter Inborn genetic diseases
- p.Leu108Val Single submitter
- p.Leu119Phe Single submitter Inborn genetic diseases
- p.Leu14Met Single submitter COG4-congenital disorder of glycosylation
- p.Leu166Val Single submitter COG4-congenital disorder of glycosylation
- p.Leu199Phe Single submitter Inborn genetic diseases
- p.Leu243Phe Single submitter
- p.Leu256Pro Single submitter COG4-congenital disorder of glycosylation
- p.Leu276Phe Single submitter
- p.Leu306Val Single submitter Inborn genetic diseases
- p.Leu404Met Single submitter
- p.Leu43Pro Single submitter COG4-congenital disorder of glycosylation
- p.Leu46Pro Single submitter Inborn genetic diseases
- p.Leu53Phe Single submitter
- p.Leu615Val Single submitter Inborn genetic diseases
- p.Leu67Arg Single submitter
- p.Leu682Arg Single submitter Inborn genetic diseases
- p.Leu68fs Single submitter
- p.Leu696_Lys697insGluLysVal Single submitter COG4-congenital disorder of glycosylation
- p.Leu715Arg Single submitter Inborn genetic diseases
- p.Leu719Val Single submitter
- p.Lys123= Single submitter COG4-congenital disorder of glycosylation
- p.Lys200Glu Single submitter Inborn genetic diseases
- p.Lys224Arg Single submitter Inborn genetic diseases
- p.Lys238Gln Single submitter Inborn genetic diseases
- p.Lys250Glu Single submitter COG4-congenital disorder of glycosylation
- p.Lys327Glu Single submitter Inborn genetic diseases
- p.Lys668= Single submitter Inborn genetic diseases
- p.Lys693Arg Single submitter Inborn genetic diseases
- p.Lys77Asn Single submitter Inborn genetic diseases
- p.Met263Val Single submitter Inborn genetic diseases
- p.Met427Val Single submitter Inborn genetic diseases
- p.Met432Thr Single submitter
- p.Met546Leu Single submitter
- p.Met5Val Single submitter Inborn genetic diseases
- p.Met78Ile Single submitter Inborn genetic diseases
- p.Met78Thr Single submitter COG4-congenital disorder of glycosylation
- p.Met84Ile Single submitter Inborn genetic diseases
- p.Phe104Val Single submitter COG4-congenital disorder of glycosylation
- p.Phe207Leu Single submitter COG4-congenital disorder of glycosylation
- p.Phe222Ser Single submitter
- p.Phe385Leu Single submitter Inborn genetic diseases
- p.Phe533Val Single submitter
- p.Pro11Leu Single submitter Inborn genetic diseases
- p.Pro11Ser Single submitter
- p.Pro12Arg Single submitter Inborn genetic diseases
- p.Pro20Ser Single submitter COG4-congenital disorder of glycosylation
- p.Pro506Leu Single submitter
- p.Pro673Leu Single submitter Inborn genetic diseases
- p.Ser171Leu Single submitter Inborn genetic diseases
- p.Ser240Leu Single submitter
- p.Ser30Pro Single submitter Inborn genetic diseases
- p.Ser383Phe Single submitter Inborn genetic diseases
- p.Ser390Phe Single submitter
- p.Ser453Gly Single submitter
- p.Ser491Cys Single submitter COG4-congenital disorder of glycosylation
- p.Ser527Ile Single submitter
- p.Ser563Pro Single submitter Inborn genetic diseases
- p.Ser578Asn Single submitter Inborn genetic diseases
- p.Ser678Arg Single submitter
- p.Ser714Leu Single submitter Inborn genetic diseases
- p.Ser714Trp Single submitter COG4-congenital disorder of glycosylation
- p.Ser781Asn Single submitter COG4-congenital disorder of glycosylation
- p.Thr162Val Single submitter COG4-congenital disorder of glycosylation
- p.Thr275= Single submitter
- p.Thr535Arg Single submitter Inborn genetic diseases
- p.Thr574Ser Single submitter COG4-congenital disorder of glycosylation
- p.Thr613Arg Single submitter Inborn genetic diseases
- p.Thr721Lys Single submitter
- p.Thr721Met Single submitter microcephalic osteodysplastic dysplasia, Saul-Wilson type
- p.Thr724Asn Single submitter Inborn genetic diseases
- p.Thr739Ala Single submitter COG4-congenital disorder of glycosylation
- p.Thr739Ile Single submitter
- p.Thr761Met Single submitter COG4-congenital disorder of glycosylation
- p.Tyr127Cys Single submitter Inborn genetic diseases
- p.Tyr127His Single submitter COG4-congenital disorder of glycosylation
- p.Tyr165Cys Single submitter COG4-congenital disorder of glycosylation
- p.Tyr297His Single submitter Inborn genetic diseases
- p.Tyr304Cys Single submitter Inborn genetic diseases
- p.Tyr373Phe Single submitter
- p.Tyr445Cys Single submitter COG4-congenital disorder of glycosylation
- p.Tyr50Phe Single submitter COG4-related disorder
- p.Tyr676His Single submitter microcephalic osteodysplastic dysplasia, Saul-Wilson type
- p.Val172Ile Single submitter Inborn genetic diseases
- p.Val17Leu Single submitter Inborn genetic diseases
- p.Val258Glu Single submitter Inborn genetic diseases
- p.Val322Ile Single submitter Inborn genetic diseases
- p.Val555Ala Single submitter Inborn genetic diseases
- p.Val689Ala Single submitter Inborn genetic diseases
- p.Val689Ile Single submitter Inborn genetic diseases
- p.Val694Ala Single submitter COG4-congenital disorder of glycosylation
- p.Val695Ala Single submitter
- p.Val695Leu Single submitter COG4-congenital disorder of glycosylation
- p.Val746Met Single submitter COG4-congenital disorder of glycosylation
- p.Val772fs Single submitter COG4-related disorder
- c.1647+9C>G No assertion criteria COG4-related disorder
- p.Ser571Thr No assertion criteria COG4-related disorder
- p.Trp762fs No assertion criteria