DPM1 — 267 ClinVar variants
All ClinVar germline DPM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →
13 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 14 Conflicting · 9 Benign · 6 Benign/Likely benign · 101 Likely benign · 116 Uncertain significance
Full DPM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 104
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DPM1 p.Ala217Thr
Conflicting
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Arg147Cys
Conflicting
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Glu36Val
Conflicting
Single submitter
congenital disorder of glycosylation type 1E
Predictors lean, ClinVar uncertain 59
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DPM1 p.Arg20Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPM1 p.Arg234His
Uncertain significance
Multiple submitters
congenital disorder of glycosylation type 1E
-
DPM1 p.Cys202Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPM1 p.Glu193Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPM1 p.Glu79Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPM1 p.Ile128Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPM1 p.Ile61Thr
Uncertain significance
Multiple submitters
congenital disorder of glycosylation type 1E
-
DPM1 p.Ser21Asn
Uncertain significance
Multiple submitters
congenital disorder of glycosylation type 1E
-
DPM1 p.Ser7Asn
Uncertain significance
Multiple submitters
congenital disorder of glycosylation type 1E
-
DPM1 p.Ser7Gly
Uncertain significance
Multiple submitters
congenital disorder of glycosylation type 1E
-
DPM1 p.Thr255Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPM1 p.Val208Ile
Uncertain significance
Multiple submitters
congenital disorder of glycosylation type 1E
-
DPM1 p.Ala119Thr
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Ala2Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Arg147His
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Arg15Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Arg161Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Arg216Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Arg92Gln
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Asp120His
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Asp158Ala
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Asp158Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Asp182Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Asp233Gly
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Gln219Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Gln24Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
- DPM1 p.Gln77Glu Uncertain significance Single submitter
- DPM1 p.Glu212Gln Uncertain significance Single submitter
-
DPM1 p.Glu5Gln
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Gly206Ala
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Gly206Val
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Gly252Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Gly66Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.His123Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Ile114Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Ile114Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Ile224Asn
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Ile43Val
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Ile60Phe
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Ile87Val
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Leu253Val
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Lys136Glu
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Lys197Thr
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Met117Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Met211Thr
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Phe231Ser
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Phe51Ser
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Pro10Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Pro10Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Pro10Thr
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Pro178Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Pro178Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Pro32Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Pro32Ser
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Pro41Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Ser28Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Thr71Ile
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Tyr207Cys
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Tyr58Phe
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
Predictors split 42
The independent predictors disagree with each other — read with care.
-
DPM1 p.Ala109Val
Uncertain significance
Multiple submitters
congenital disorder of glycosylation type 1E
-
DPM1 p.Arg12Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPM1 p.Arg191Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPM1 p.Arg216Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPM1 p.Asn169Ser
Uncertain significance
Multiple submitters
congenital disorder of glycosylation type 1E
-
DPM1 p.Gly138Asp
Uncertain significance
Multiple submitters
congenital disorder of glycosylation type 1E
-
DPM1 p.Ile229Val
Uncertain significance
Multiple submitters
congenital disorder of glycosylation type 1E
-
DPM1 p.Ile56Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPM1 p.Pro129Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPM1 p.Pro129Thr
Uncertain significance
Multiple submitters
congenital disorder of glycosylation type 1E
-
DPM1 p.Ser13Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPM1 p.Thr172Ser
Uncertain significance
Multiple submitters
congenital disorder of glycosylation type 1E
-
DPM1 p.Thr260Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPM1 p.Tyr236His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPM1 p.Ala2Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Arg14Trp
Conflicting
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Arg166Cys
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Arg166His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Arg37Cys
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Arg8Cys
Conflicting
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Asp85Gly
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Glu137Lys
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Gly150Arg
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Ile174Ser
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Ile214Thr
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Ile56Met
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Leu159Phe
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Leu4Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Leu4Trp
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Lys126Glu
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Lys160Ile
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
- DPM1 p.Lys205Glu Uncertain significance Single submitter
-
DPM1 p.Met213Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Pro10His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Pro68Ala
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Ser230Ala
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Thr100Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPM1 p.Tyr113Asn
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Tyr58Cys
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Val154Ile
Uncertain significance
Single submitter
congenital disorder of glycosylation type 1E
-
DPM1 p.Val194Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- DPM1 p.Val19Met Uncertain significance Single submitter
All DPM1 variants
Pathogenic 13
- p.Arg92Gly Multiple submitters congenital disorder of glycosylation type 1E
- p.Gly111fs Multiple submitters congenital disorder of glycosylation type 1E
- c.564-1G>T Single submitter congenital disorder of glycosylation type 1E
- p.Arg191Ter Single submitter congenital disorder of glycosylation type 1E
- p.Asn57_Tyr58insTer Single submitter congenital disorder of glycosylation type 1E
- p.Glu137Ter Single submitter congenital disorder of glycosylation type 1E
- p.Glu18fs Single submitter congenital disorder of glycosylation type 1E
- p.Ile164fs Single submitter congenital disorder of glycosylation type 1E
- p.Ile61fs Single submitter congenital disorder of glycosylation type 1E
- p.Leu176fs Single submitter congenital disorder of glycosylation type 1E
- p.Leu189Ter Single submitter congenital disorder of glycosylation type 1E
- c.373-5T>A No assertion criteria congenital disorder of glycosylation type 1E
- p.Gln210fs No assertion criteria congenital disorder of glycosylation type 1E
Pathogenic/Likely pathogenic 2
- p.Gly152Val Multiple submitters congenital disorder of glycosylation type 1E
- p.Met1Leu Multiple submitters congenital disorder of glycosylation type 1E
Likely pathogenic 6
- p.His124Arg Multiple submitters congenital disorder of glycosylation type 1E
- c.495-1G>T Single submitter congenital disorder of glycosylation type 1E
- c.563+1G>A Single submitter congenital disorder of glycosylation type 1E
- p.Arg92Ter Single submitter
- p.Glu76fs Single submitter
- p.Ser248Pro Single submitter congenital disorder of glycosylation type 1E
Conflicting classifications of pathogenicity 14
- c.161+10C>T Single submitter congenital disorder of glycosylation type 1E
- c.295+7C>T Single submitter congenital disorder of glycosylation type 1E
- c.295+8G>A Single submitter congenital disorder of glycosylation type 1E
- c.494+2T>C Single submitter Inborn genetic diseases
- p.Ala217Thr Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Arg147Cys Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Arg14Trp Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Arg8Cys Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Glu36Val Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Gly152= Single submitter congenital disorder of glycosylation type 1E
- p.Leu253= Single submitter congenital disorder of glycosylation type 1E
- p.Leu96= Single submitter congenital disorder of glycosylation type 1E
- p.Met1Val Single submitter congenital disorder of glycosylation type 1E
- p.Tyr190= Single submitter congenital disorder of glycosylation type 1E
Benign 9
- c.161+21C>G Multiple submitters
- c.399-148C>T Multiple submitters
- c.564-105T>C Multiple submitters
- c.679-7A>T Multiple submitters congenital disorder of glycosylation type 1E
- c.-274T>G Multiple submitters
- c.262-156del Single submitter
- c.296-249T>A Single submitter
- c.678+325C>T Single submitter
- c.679-7_679-6insTTT Single submitter congenital disorder of glycosylation type 1E
Benign/Likely benign 6
- c.296-12T>C Multiple submitters congenital disorder of glycosylation type 1E
- c.398+13T>C Multiple submitters congenital disorder of glycosylation type 1E
- c.679-7_679-6insT Multiple submitters congenital disorder of glycosylation type 1E
- c.679-7_679-6insTT Multiple submitters congenital disorder of glycosylation type 1E
- c.679-8del Multiple submitters
- c.679-8dup Multiple submitters congenital disorder of glycosylation type 1E
Likely benign 101
- c.162-17A>G Multiple submitters congenital disorder of glycosylation type 1E
- c.373-33_373-28del Multiple submitters
- c.495-130A>G Multiple submitters
- c.495-249C>G Multiple submitters
- c.679-9_679-8dup Multiple submitters congenital disorder of glycosylation type 1E
- p.Asn57= Multiple submitters congenital disorder of glycosylation type 1E
- p.Pro228= Multiple submitters congenital disorder of glycosylation type 1E
- p.Thr223= Multiple submitters congenital disorder of glycosylation type 1E
- p.Val6= Multiple submitters congenital disorder of glycosylation type 1E
- c.161+16_161+21del Single submitter congenital disorder of glycosylation type 1E
- c.161+18C>T Single submitter congenital disorder of glycosylation type 1E
- c.161+20_161+22del Single submitter congenital disorder of glycosylation type 1E
- c.261+8A>G Single submitter congenital disorder of glycosylation type 1E
- c.262-19C>A Single submitter congenital disorder of glycosylation type 1E
- c.262-19C>T Single submitter congenital disorder of glycosylation type 1E
- c.262-9T>C Single submitter congenital disorder of glycosylation type 1E
- c.295+15C>T Single submitter
- c.295+18dup Single submitter congenital disorder of glycosylation type 1E
- c.295+8G>C Single submitter congenital disorder of glycosylation type 1E
- c.296-10T>C Single submitter congenital disorder of glycosylation type 1E
- c.296-14A>C Single submitter congenital disorder of glycosylation type 1E
- c.296-49T>C Single submitter
- c.296-5T>C Single submitter congenital disorder of glycosylation type 1E
- c.296-9C>A Single submitter congenital disorder of glycosylation type 1E
- c.296-9C>G Single submitter congenital disorder of glycosylation type 1E
- c.372+12G>A Single submitter congenital disorder of glycosylation type 1E
- c.372+8del Single submitter congenital disorder of glycosylation type 1E
- c.373-11T>C Single submitter congenital disorder of glycosylation type 1E
- c.373-17T>C Single submitter congenital disorder of glycosylation type 1E
- c.398+20T>C Single submitter congenital disorder of glycosylation type 1E
- c.398+309T>A Single submitter
- c.399-13A>T Single submitter congenital disorder of glycosylation type 1E
- c.399-18A>G Single submitter congenital disorder of glycosylation type 1E
- c.399-250C>T Single submitter
- c.494+16dup Single submitter congenital disorder of glycosylation type 1E
- c.494+17del Single submitter congenital disorder of glycosylation type 1E
- c.494+217G>A Single submitter
- c.494+7A>G Single submitter congenital disorder of glycosylation type 1E
- c.494+8C>T Single submitter congenital disorder of glycosylation type 1E
- c.494+9A>C Single submitter congenital disorder of glycosylation type 1E
- c.494+9A>G Single submitter congenital disorder of glycosylation type 1E
- c.495-15T>G Single submitter congenital disorder of glycosylation type 1E
- c.495-174C>T Single submitter
- c.495-18G>C Single submitter congenital disorder of glycosylation type 1E
- c.495-195G>C Single submitter
- c.495-281dup Single submitter
- c.563+15T>C Single submitter congenital disorder of glycosylation type 1E
- c.564-20A>G Single submitter congenital disorder of glycosylation type 1E
- c.564-24AT[3] Single submitter congenital disorder of glycosylation type 1E
- c.678+18A>C Single submitter congenital disorder of glycosylation type 1E
- c.678+8A>G Single submitter congenital disorder of glycosylation type 1E
- c.678+9C>G Single submitter congenital disorder of glycosylation type 1E
- c.678+9C>T Single submitter congenital disorder of glycosylation type 1E
- c.679-12T>A Single submitter congenital disorder of glycosylation type 1E
- c.679-12T>G Single submitter congenital disorder of glycosylation type 1E
- c.679-165T>A Single submitter
- c.679-16T>C Single submitter congenital disorder of glycosylation type 1E
- c.679-8T>A Single submitter congenital disorder of glycosylation type 1E
- c.-33A>C Single submitter
- c.-38delT Single submitter
- c.-42A>G Single submitter
- c.*19T>A Single submitter
- c.*30A>G Single submitter
- p.Ala101= Single submitter congenital disorder of glycosylation type 1E
- p.Ala119= Single submitter congenital disorder of glycosylation type 1E
- p.Ala2= Single submitter congenital disorder of glycosylation type 1E
- p.Arg11Pro Single submitter Inborn genetic diseases
- p.Arg14= Single submitter congenital disorder of glycosylation type 1E
- p.Arg23= Single submitter congenital disorder of glycosylation type 1E
- p.Arg234= Single submitter congenital disorder of glycosylation type 1E
- p.Arg92= Single submitter congenital disorder of glycosylation type 1E
- p.Asn39= Single submitter congenital disorder of glycosylation type 1E
- p.Asp158= Single submitter congenital disorder of glycosylation type 1E
- p.Asp73= Single submitter congenital disorder of glycosylation type 1E
- p.Gly138= Single submitter congenital disorder of glycosylation type 1E
- p.Gly153= Single submitter congenital disorder of glycosylation type 1E
- p.Gly153= Single submitter congenital disorder of glycosylation type 1E
- p.Gly206= Single submitter congenital disorder of glycosylation type 1E
- p.Gly242= Single submitter congenital disorder of glycosylation type 1E
- p.Ile115= Single submitter congenital disorder of glycosylation type 1E
- p.Ile128= Single submitter congenital disorder of glycosylation type 1E
- p.Leu189= Single submitter congenital disorder of glycosylation type 1E
- p.Leu220= Single submitter congenital disorder of glycosylation type 1E
- p.Leu256= Single submitter congenital disorder of glycosylation type 1E
- p.Leu4= Single submitter congenital disorder of glycosylation type 1E
- p.Leu78= Single submitter congenital disorder of glycosylation type 1E
- p.Leu89= Single submitter congenital disorder of glycosylation type 1E
- p.Pro22= Single submitter congenital disorder of glycosylation type 1E
- p.Pro228= Single submitter congenital disorder of glycosylation type 1E
- p.Pro41= Single submitter congenital disorder of glycosylation type 1E
- p.Pro91= Single submitter congenital disorder of glycosylation type 1E
- p.Ser7= Single submitter congenital disorder of glycosylation type 1E
- p.Thr184= Single submitter congenital disorder of glycosylation type 1E
- p.Tyr113= Single submitter congenital disorder of glycosylation type 1E
- p.Tyr207= Single submitter congenital disorder of glycosylation type 1E
- p.Tyr82= Single submitter congenital disorder of glycosylation type 1E
- p.Val143= Single submitter congenital disorder of glycosylation type 1E
- p.Val154= Single submitter congenital disorder of glycosylation type 1E
- p.Val19= Single submitter congenital disorder of glycosylation type 1E
- p.Val29= Single submitter congenital disorder of glycosylation type 1E
- p.Trp157Cys No assertion criteria intellectual disability
Uncertain significance 116
- c.*12T>C Multiple submitters congenital disorder of glycosylation type 1E
- p.Ala109Val Multiple submitters congenital disorder of glycosylation type 1E ⚠
- p.Arg12Met Multiple submitters Inborn genetic diseases ⚠
- p.Arg191Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg20Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg216Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg234His Multiple submitters congenital disorder of glycosylation type 1E ⚠
- p.Asn169Ser Multiple submitters congenital disorder of glycosylation type 1E ⚠
- p.Cys202Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Glu193Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu79Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly138Asp Multiple submitters congenital disorder of glycosylation type 1E ⚠
- p.Ile128Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile229Val Multiple submitters congenital disorder of glycosylation type 1E ⚠
- p.Ile56Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile61Thr Multiple submitters congenital disorder of glycosylation type 1E ⚠
- p.Pro129Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro129Thr Multiple submitters congenital disorder of glycosylation type 1E ⚠
- p.Ser13Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser21Asn Multiple submitters congenital disorder of glycosylation type 1E ⚠
- p.Ser7Asn Multiple submitters congenital disorder of glycosylation type 1E ⚠
- p.Ser7Gly Multiple submitters congenital disorder of glycosylation type 1E ⚠
- p.Thr172Ser Multiple submitters congenital disorder of glycosylation type 1E ⚠
- p.Thr255Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr260Ile Multiple submitters Inborn genetic diseases ⚠
- p.Tyr236His Multiple submitters Inborn genetic diseases ⚠
- p.Val208Ile Multiple submitters congenital disorder of glycosylation type 1E ⚠
- c.162-3del Single submitter congenital disorder of glycosylation type 1E
- c.295+6T>C Single submitter congenital disorder of glycosylation type 1E
- c.678+15C>G Single submitter congenital disorder of glycosylation type 1E
- c.678+1G>C Single submitter congenital disorder of glycosylation type 1E
- c.678+4T>G Single submitter congenital disorder of glycosylation type 1E
- c.678+6C>A Single submitter congenital disorder of glycosylation type 1E
- c.*117A>G Single submitter congenital disorder of glycosylation type 1E
- c.*159A>G Single submitter congenital disorder of glycosylation type 1E
- c.*191A>G Single submitter congenital disorder of glycosylation type 1E
- c.*248T>A Single submitter congenital disorder of glycosylation type 1E
- p.Ala119Thr Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Ala2Pro Single submitter Inborn genetic diseases ⚠
- p.Ala2Val Single submitter Inborn genetic diseases ⚠
- p.Arg133= Single submitter congenital disorder of glycosylation type 1E
- p.Arg147His Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Arg15Gly Single submitter Inborn genetic diseases ⚠
- p.Arg161Ile Single submitter Inborn genetic diseases ⚠
- p.Arg166Cys Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Arg166His Single submitter Inborn genetic diseases ⚠
- p.Arg216Trp Single submitter Inborn genetic diseases ⚠
- p.Arg37Cys Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Arg92Gln Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Asp120His Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Asp158Ala Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Asp158Glu Single submitter Inborn genetic diseases ⚠
- p.Asp182Ala Single submitter Inborn genetic diseases ⚠
- p.Asp233Gly Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Asp85Gly Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Gln219Arg Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Gln24Arg Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Gln77Glu Single submitter ⚠
- p.Glu137Lys Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Glu212Gln Single submitter ⚠
- p.Glu5Gln Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Gly150Arg Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Gly206Ala Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Gly206Val Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Gly225= Single submitter congenital disorder of glycosylation type 1E
- p.Gly252Arg Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Gly66Arg Single submitter Inborn genetic diseases ⚠
- p.His123Arg Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Ile114Asn Single submitter Inborn genetic diseases ⚠
- p.Ile114Val Single submitter Inborn genetic diseases ⚠
- p.Ile116del Single submitter congenital disorder of glycosylation type 1E
- p.Ile174Ser Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Ile214Thr Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Ile224Asn Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Ile43Val Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Ile56Met Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Ile60Phe Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Ile87= Single submitter congenital disorder of glycosylation type 1E
- p.Ile87Val Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Leu159Phe Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Leu253Val Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Leu4Phe Single submitter Inborn genetic diseases ⚠
- p.Leu4Trp Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Lys126Glu Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Lys136Glu Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Lys160Ile Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Lys162del Single submitter
- p.Lys197Thr Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Lys205Glu Single submitter ⚠
- p.Met117Ile Single submitter Inborn genetic diseases ⚠
- p.Met211Thr Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Met213Val Single submitter Inborn genetic diseases ⚠
- p.Phe231Ser Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Phe51del Single submitter congenital disorder of glycosylation type 1E
- p.Phe51Ser Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Pro10Ala Single submitter Inborn genetic diseases ⚠
- p.Pro10Arg Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Pro10His Single submitter Inborn genetic diseases ⚠
- p.Pro10Thr Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Pro178Arg Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Pro178Leu Single submitter Inborn genetic diseases ⚠
- p.Pro32Leu Single submitter Inborn genetic diseases ⚠
- p.Pro32Ser Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Pro41Arg Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Pro68Ala Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Ser230Ala Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Ser28Leu Single submitter Inborn genetic diseases ⚠
- p.Thr100Ala Single submitter Inborn genetic diseases ⚠
- p.Thr71Ile Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Tyr113Asn Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Tyr207Cys Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Tyr58Cys Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Tyr58Phe Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Val154Ile Single submitter congenital disorder of glycosylation type 1E ⚠
- p.Val194Ala Single submitter Inborn genetic diseases ⚠
- p.Val19Met Single submitter ⚠