ALG3 — 250 ClinVar variants
All ClinVar germline ALG3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 107 flagged for review →
17 Pathogenic · 4 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 16 Conflicting · 6 Benign · 5 Benign/Likely benign · 69 Likely benign · 116 Uncertain significance
Full ALG3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 107
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ALG3 p.Asn174Ser
Likely pathogenic
Multiple submitters
ALG3-congenital disorder of glycosylation
-
ALG3 p.Asn346Ser
Pathogenic
Single submitter
ALG3-congenital disorder of glycosylation
Predictors lean, ClinVar uncertain 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ALG3 p.Arg229Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Arg27Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Arg378Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Cys21Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Cys21Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Cys404Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Glu18Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.His297Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Leu5Val
Uncertain significance
Multiple submitters
ALG3-congenital disorder of glycosylation
-
ALG3 p.Lys7Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Met157Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Met209Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Phe427Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Pro329Ala
Uncertain significance
Multiple submitters
ALG3-congenital disorder of glycosylation
-
ALG3 p.Ser318Leu
Uncertain significance
Multiple submitters
ALG3-congenital disorder of glycosylation
-
ALG3 p.Tyr370His
Uncertain significance
Multiple submitters
ALG3-congenital disorder of glycosylation
-
ALG3 p.Val415Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Ala102Pro
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Ala17Gly
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Ala204Val
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Ala305Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Arg326Lys
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
- ALG3 p.Arg354Ser Uncertain significance Single submitter
-
ALG3 p.Asn126Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Asn187Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Cys21Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Gln425Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Gly12Arg
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Gly313Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Gly4Val
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.His271Arg
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.His310Arg
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.His382Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Ile82Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Leu182Pro
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Leu20His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Leu20Phe
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Leu219Pro
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Leu241Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Leu250Gln
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Lys7Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Met109Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Phe168Ser
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
- ALG3 p.Pro151Leu Uncertain significance Single submitter
- ALG3 p.Pro39Leu Uncertain significance Single submitter
- ALG3 p.Ser202Arg Uncertain significance Single submitter
-
ALG3 p.Ser255Arg
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Ser315Asn
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Thr67Pro
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Trp194Arg
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Trp71Arg
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Tyr132Cys
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Tyr361Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ALG3 p.Tyr88His Uncertain significance Single submitter
-
ALG3 p.Val153Ile
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Val339Ile
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Val362Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Val54Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 47
The independent predictors disagree with each other — read with care.
-
ALG3 p.Ala102Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Ala17Val
Uncertain significance
Multiple submitters
ALG3-congenital disorder of glycosylation
- ALG3 p.Ala65Val Uncertain significance Multiple submitters
-
ALG3 p.Arg193His
Uncertain significance
Multiple submitters
ALG3-congenital disorder of glycosylation
-
ALG3 p.Arg260Cys
Uncertain significance
Multiple submitters
ALG3-congenital disorder of glycosylation
-
ALG3 p.Asn83Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Gly110Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Leu264Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Met75Val
Uncertain significance
Multiple submitters
ALG3-congenital disorder of glycosylation
-
ALG3 p.Pro329Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Ser116Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Ser116Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Ser324Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG3 p.Ala14Val
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Ala282Val
Conflicting
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Ala288Val
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Ala28Pro
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Arg117Pro
Conflicting
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Arg122Cys
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Arg260His
Uncertain significance
Single submitter
Inborn genetic diseases
- ALG3 p.Arg266His Uncertain significance Single submitter
-
ALG3 p.Arg277Cys
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Arg277His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Arg287Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Arg6Trp
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
- ALG3 p.Asp120Gly Uncertain significance Single submitter
-
ALG3 p.Cys307Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Gln267Lys
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Gly423Cys
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.His286Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Ile348Thr
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Leu111Trp
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Leu182Phe
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Leu184Phe
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Leu188His
Uncertain significance
Single submitter
Inborn genetic diseases
- ALG3 p.Leu188Phe Uncertain significance Single submitter
-
ALG3 p.Leu251Pro
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Leu342Ile
Conflicting
Single submitter
ALG3-congenital disorder of glycosylation
-
ALG3 p.Leu34Pro
Uncertain significance
Single submitter
ALG3-congenital disorder of glycosylation
- ALG3 p.Leu5Pro Uncertain significance Single submitter
-
ALG3 p.Pro176Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Pro332His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Ser202Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ALG3 p.Thr115Ala Uncertain significance Single submitter
- ALG3 p.Thr398Ile Uncertain significance Single submitter
-
ALG3 p.Val177Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG3 p.Val362Ile
Conflicting
Single submitter
ALG3-congenital disorder of glycosylation
All ALG3 variants
Pathogenic 17
- p.Arg266Cys Multiple submitters ALG3-congenital disorder of glycosylation
- p.Trp396Ter Multiple submitters ALG3-congenital disorder of glycosylation
- c.606-2A>C Single submitter ALG3-congenital disorder of glycosylation
- p.Arg287Ter Single submitter ALG3-congenital disorder of glycosylation
- p.Asn346Ser Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Asn397fs Single submitter ALG3-congenital disorder of glycosylation
- p.Gln16fs Single submitter ALG3-congenital disorder of glycosylation
- p.Gln23Ter Single submitter ALG3-congenital disorder of glycosylation
- p.Gln331Ter Single submitter Inborn genetic diseases
- p.His297fs Single submitter ALG3-congenital disorder of glycosylation
- p.Pro39fs Single submitter ALG3-congenital disorder of glycosylation
- p.Trp24Ter Single submitter ALG3-congenital disorder of glycosylation
- c.163_196+3del No assertion criteria ALG3-congenital disorder of glycosylation
- p.Arg385Thr No assertion criteria ALG3-congenital disorder of glycosylation
- p.Gly118Asp No assertion criteria ALG3-congenital disorder of glycosylation
- p.Met157Lys No assertion criteria ALG3-congenital disorder of glycosylation
- p.Trp421Ter No assertion criteria ALG3-congenital disorder of glycosylation
Pathogenic/Likely pathogenic 4
- p.Arg171Gln Multiple submitters ALG3-congenital disorder of glycosylation
- p.Arg354His Multiple submitters ALG3-congenital disorder of glycosylation
- p.Gly55= Multiple submitters ALG3-congenital disorder of glycosylation
- p.Met1Thr Multiple submitters ALG3-congenital disorder of glycosylation
Likely pathogenic 17
- c.444+1G>T Multiple submitters ALG3-congenital disorder of glycosylation
- p.Arg354Cys Multiple submitters ALG3-congenital disorder of glycosylation
- p.Asn174Ser Multiple submitters ALG3-congenital disorder of glycosylation ⚠
- p.Ile69Thr Multiple submitters ALG3-congenital disorder of glycosylation
- c.296+4A>G Single submitter ALG3-congenital disorder of glycosylation
- c.444+1G>A Single submitter ALG3-congenital disorder of glycosylation
- c.444+2T>G Single submitter ALG3-congenital disorder of glycosylation
- p.Arg163His Single submitter ALG3-congenital disorder of glycosylation
- p.Arg171Trp Single submitter ALG3-congenital disorder of glycosylation
- p.Cys307Ter Single submitter congenital disorder of glycosylation
- p.Gly96Arg Single submitter ALG3-congenital disorder of glycosylation
- p.Leu189Pro Single submitter
- p.Leu223fs Single submitter
- p.Lys72fs Single submitter ALG3-congenital disorder of glycosylation
- p.Tyr106fs Single submitter
- p.Tyr74Cys Single submitter ALG3-congenital disorder of glycosylation
- p.Leu137_Leu138insValPheLeuLeu No assertion criteria ALG3-congenital disorder of glycosylation
Conflicting classifications of pathogenicity 16
- c.297-6T>C Single submitter ALG3-congenital disorder of glycosylation
- c.606-10C>T Single submitter ALG3-congenital disorder of glycosylation
- c.606-8C>T Single submitter ALG3-congenital disorder of glycosylation
- c.933-4C>T Single submitter ALG3-congenital disorder of glycosylation
- p.Ala17= Single submitter ALG3-congenital disorder of glycosylation
- p.Ala282Val Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Arg117Pro Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Arg117Ter Single submitter ALG3-congenital disorder of glycosylation
- p.Gln359= Single submitter ALG3-congenital disorder of glycosylation
- p.Gly16Trp Single submitter ALG3-congenital disorder of glycosylation
- p.Leu232= Single submitter ALG3-congenital disorder of glycosylation
- p.Leu342Ile Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Lys22= Single submitter ALG3-congenital disorder of glycosylation
- p.Ser259= Single submitter ALG3-congenital disorder of glycosylation
- p.Tyr74= Single submitter ALG3-congenital disorder of glycosylation
- p.Val362Ile Single submitter ALG3-congenital disorder of glycosylation ⚠
Benign 6
- c.1009+162G>T Multiple submitters
- c.1009+188G>A Multiple submitters
- c.*50T>G Multiple submitters ALG3-congenital disorder of glycosylation
- p.Gly197= Multiple submitters ALG3-congenital disorder of glycosylation
- c.196+283GCT[6] Single submitter
- p.Ser318= Single submitter ALG3-congenital disorder of glycosylation
Benign/Likely benign 5
- c.727-50T>C Multiple submitters
- p.Cys159= Multiple submitters ALG3-congenital disorder of glycosylation
- p.Ile107Val Multiple submitters ALG3-congenital disorder of glycosylation
- p.Pro424= Multiple submitters ALG3-congenital disorder of glycosylation
- p.Pro424Leu Multiple submitters ALG3-congenital disorder of glycosylation
Likely benign 69
- c.1010-292C>T Multiple submitters
- c.52+196G>T Multiple submitters
- c.605+124C>T Multiple submitters
- c.933-29T>C Multiple submitters
- p.Ile392= Multiple submitters ALG3-congenital disorder of glycosylation
- p.Leu223= Multiple submitters ALG3-congenital disorder of glycosylation
- p.Leu98= Multiple submitters ALG3-congenital disorder of glycosylation
- p.Pro369= Multiple submitters ALG3-congenital disorder of glycosylation
- c.1009+14T>G Single submitter ALG3-congenital disorder of glycosylation
- c.1010-137G>A Single submitter
- c.1155-9C>T Single submitter ALG3-congenital disorder of glycosylation
- c.196+16G>A Single submitter ALG3-congenital disorder of glycosylation
- c.196+19del Single submitter ALG3-congenital disorder of glycosylation
- c.196+8C>T Single submitter
- c.296+13A>C Single submitter ALG3-congenital disorder of glycosylation
- c.296+20T>C Single submitter ALG3-congenital disorder of glycosylation
- c.296+9G>C Single submitter ALG3-congenital disorder of glycosylation
- c.297-11T>C Single submitter ALG3-congenital disorder of glycosylation
- c.297-19A>G Single submitter ALG3-congenital disorder of glycosylation
- c.445-17C>T Single submitter ALG3-congenital disorder of glycosylation
- c.445-19T>C Single submitter ALG3-congenital disorder of glycosylation
- c.52+9G>A Single submitter
- c.605+9C>T Single submitter ALG3-congenital disorder of glycosylation
- c.606-18C>T Single submitter ALG3-congenital disorder of glycosylation
- c.726+10T>A Single submitter
- c.932+10G>A Single submitter ALG3-congenital disorder of glycosylation
- c.932+7A>G Single submitter ALG3-congenital disorder of glycosylation
- c.933-20_933-17del Single submitter ALG3-congenital disorder of glycosylation
- p.Ala239= Single submitter ALG3-congenital disorder of glycosylation
- p.Ala296= Single submitter ALG3-congenital disorder of glycosylation
- p.Ala414= Single submitter ALG3-congenital disorder of glycosylation
- p.Arg10= Single submitter ALG3-congenital disorder of glycosylation
- p.Arg193= Single submitter ALG3-congenital disorder of glycosylation
- p.Arg6= Single submitter ALG3-congenital disorder of glycosylation
- p.Arg8= Single submitter
- p.Asn210= Single submitter ALG3-congenital disorder of glycosylation
- p.Glu38= Single submitter
- p.Glu8= Single submitter
- p.Gly230= Single submitter ALG3-congenital disorder of glycosylation
- p.Gly390= Single submitter ALG3-congenital disorder of glycosylation
- p.Gly80= Single submitter ALG3-congenital disorder of glycosylation
- p.Ile107= Single submitter ALG3-congenital disorder of glycosylation
- p.Ile338= Single submitter ALG3-congenital disorder of glycosylation
- p.Leu181= Single submitter ALG3-congenital disorder of glycosylation
- p.Leu213= Single submitter ALG3-congenital disorder of glycosylation
- p.Leu283= Single submitter
- p.Leu306= Single submitter ALG3-congenital disorder of glycosylation
- p.Leu36= Single submitter
- p.Leu380= Single submitter ALG3-congenital disorder of glycosylation
- p.Leu418= Single submitter ALG3-congenital disorder of glycosylation
- p.Phe104= Single submitter ALG3-congenital disorder of glycosylation
- p.Phe152= Single submitter ALG3-congenital disorder of glycosylation
- p.Phe168= Single submitter ALG3-congenital disorder of glycosylation
- p.Phe183= Single submitter ALG3-congenital disorder of glycosylation
- p.Phe214= Single submitter ALG3-congenital disorder of glycosylation
- p.Pro248= Single submitter ALG3-congenital disorder of glycosylation
- p.Pro335= Single submitter ALG3-congenital disorder of glycosylation
- p.Pro376= Single submitter
- p.Ser11= Single submitter ALG3-congenital disorder of glycosylation
- p.Ser315= Single submitter ALG3-congenital disorder of glycosylation
- p.Ser405= Single submitter ALG3-congenital disorder of glycosylation
- p.Thr273= Single submitter ALG3-congenital disorder of glycosylation
- p.Val211= Single submitter ALG3-congenital disorder of glycosylation
- c.1154+5C>T No assertion criteria ALG3-related disorder
- c.*5C>T No assertion criteria ALG3-related disorder
- p.Gln5= No assertion criteria ALG3-related disorder
- p.Glu18= No assertion criteria ALG3-related disorder
- p.His62= No assertion criteria ALG3-related disorder
- p.Val180= No assertion criteria ALG3-related disorder
Uncertain significance 116
- c.-26G>C Multiple submitters ALG3-congenital disorder of glycosylation
- p.Ala102Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala17Val Multiple submitters ALG3-congenital disorder of glycosylation ⚠
- p.Ala65Val Multiple submitters ⚠
- p.Arg193His Multiple submitters ALG3-congenital disorder of glycosylation ⚠
- p.Arg229Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg260Cys Multiple submitters ALG3-congenital disorder of glycosylation ⚠
- p.Arg27Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg378Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asn83Ser Multiple submitters Inborn genetic diseases ⚠
- p.Cys21Gly Multiple submitters Inborn genetic diseases ⚠
- p.Cys21Phe Multiple submitters Inborn genetic diseases ⚠
- p.Cys404Trp Multiple submitters Inborn genetic diseases ⚠
- p.Glu18Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly110Val Multiple submitters Inborn genetic diseases ⚠
- p.His297Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu264Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu5Val Multiple submitters ALG3-congenital disorder of glycosylation ⚠
- p.Lys7Gln Multiple submitters Inborn genetic diseases ⚠
- p.Met157Val Multiple submitters Inborn genetic diseases ⚠
- p.Met209Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met75Val Multiple submitters ALG3-congenital disorder of glycosylation ⚠
- p.Phe427Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Pro329Ala Multiple submitters ALG3-congenital disorder of glycosylation ⚠
- p.Pro329Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser116Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser116Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser318Leu Multiple submitters ALG3-congenital disorder of glycosylation ⚠
- p.Ser324Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr370His Multiple submitters ALG3-congenital disorder of glycosylation ⚠
- p.Val415Ile Multiple submitters Inborn genetic diseases ⚠
- c.296+5G>A Single submitter ALG3-congenital disorder of glycosylation
- c.296+7G>A Single submitter ALG3-congenital disorder of glycosylation
- c.-313A>G Single submitter ALG3-congenital disorder of glycosylation
- c.-31G>A Single submitter ALG3-congenital disorder of glycosylation
- c.-49G>A Single submitter
- c.*108T>C Single submitter ALG3-congenital disorder of glycosylation
- c.*152C>T Single submitter ALG3-congenital disorder of glycosylation
- c.*65C>T Single submitter ALG3-congenital disorder of glycosylation
- p.Ala102Pro Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Ala14Val Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Ala17Gly Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Ala204Val Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Ala282= Single submitter ALG3-congenital disorder of glycosylation
- p.Ala288Val Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Ala28Pro Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Ala305Asp Single submitter Inborn genetic diseases ⚠
- p.Arg122Cys Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Arg260His Single submitter Inborn genetic diseases ⚠
- p.Arg266His Single submitter ⚠
- p.Arg277Cys Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Arg277His Single submitter Inborn genetic diseases ⚠
- p.Arg287Gly Single submitter Inborn genetic diseases ⚠
- p.Arg326Lys Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Arg354Ser Single submitter ⚠
- p.Arg6Trp Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Asn126Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn187Ser Single submitter Inborn genetic diseases ⚠
- p.Asp120Gly Single submitter ⚠
- p.Cys21Arg Single submitter Inborn genetic diseases ⚠
- p.Cys307Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln267Lys Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Gln425Arg Single submitter Inborn genetic diseases ⚠
- p.Gly12Arg Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Gly313Glu Single submitter Inborn genetic diseases ⚠
- p.Gly423Cys Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Gly4Val Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.His271Arg Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.His286Leu Single submitter Inborn genetic diseases ⚠
- p.His310Arg Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.His382= Single submitter ALG3-congenital disorder of glycosylation
- p.His382Asn Single submitter Inborn genetic diseases ⚠
- p.Ile348Thr Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Ile82Val Single submitter Inborn genetic diseases ⚠
- p.Leu111Trp Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Leu182Phe Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Leu182Pro Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Leu184Phe Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Leu188His Single submitter Inborn genetic diseases ⚠
- p.Leu188Phe Single submitter ⚠
- p.Leu20His Single submitter Inborn genetic diseases ⚠
- p.Leu20Phe Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Leu219Pro Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Leu223del Single submitter ALG3-congenital disorder of glycosylation
- p.Leu241Phe Single submitter Inborn genetic diseases ⚠
- p.Leu250Gln Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Leu251Pro Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Leu34Pro Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Leu386= Single submitter ALG3-congenital disorder of glycosylation
- p.Leu5Pro Single submitter ⚠
- p.Lys7Asn Single submitter Inborn genetic diseases ⚠
- p.Met109Val Single submitter Inborn genetic diseases ⚠
- p.Phe168Ser Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Pro151Leu Single submitter ⚠
- p.Pro176Ser Single submitter Inborn genetic diseases ⚠
- p.Pro332His Single submitter Inborn genetic diseases ⚠
- p.Pro39Leu Single submitter ⚠
- p.Ser202Arg Single submitter ⚠
- p.Ser202Gly Single submitter Inborn genetic diseases ⚠
- p.Ser255Arg Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Ser315Asn Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Thr115Ala Single submitter ⚠
- p.Thr398Ile Single submitter ⚠
- p.Thr67Pro Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Trp194Arg Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Trp71Arg Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Tyr132Cys Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Tyr361= Single submitter ALG3-congenital disorder of glycosylation
- p.Tyr361Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr88His Single submitter ⚠
- p.Val153Ile Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Val177Met Single submitter Inborn genetic diseases ⚠
- p.Val339Ile Single submitter ALG3-congenital disorder of glycosylation ⚠
- p.Val362Gly Single submitter Inborn genetic diseases ⚠
- p.Val388fs Single submitter
- p.Val54Met Single submitter Inborn genetic diseases ⚠