ALG11 — 204 ClinVar variants
All ClinVar germline ALG11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 112 flagged for review →
7 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 8 Conflicting · 9 Benign · 4 Benign/Likely benign · 44 Likely benign · 122 Uncertain significance
Full ALG11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 112
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ALG11 p.Arg468Cys
Likely pathogenic
Multiple submitters
ALG11-congenital disorder of glycosylation
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ALG11 p.Glu312Gly
Conflicting
Single submitter
ALG11-congenital disorder of glycosylation
- ALG11 p.Gly216Arg Conflicting Single submitter
-
ALG11 p.Ile414Asn
Conflicting
Single submitter
ALG11-congenital disorder of glycosylation
Predictors lean, ClinVar uncertain 92
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ALG11 p.Arg15Thr
Uncertain significance
Multiple submitters
ALG11-congenital disorder of glycosylation
-
ALG11 p.Arg346Cys
Uncertain significance
Multiple submitters
ALG11-congenital disorder of glycosylation
-
ALG11 p.Arg346His
Uncertain significance
Multiple submitters
ALG11-congenital disorder of glycosylation
-
ALG11 p.Asn257Ser
Uncertain significance
Multiple submitters
ALG11-congenital disorder of glycosylation
-
ALG11 p.Asp174Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG11 p.Gln166Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG11 p.Glu387Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG11 p.Glu5Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG11 p.Gly103Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG11 p.Gly109Ser
Uncertain significance
Multiple submitters
ALG11-congenital disorder of glycosylation
-
ALG11 p.Leu268Ile
Uncertain significance
Multiple submitters
ALG11-congenital disorder of glycosylation
-
ALG11 p.Leu424Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG11 p.Leu86Val
Uncertain significance
Multiple submitters
ALG11-congenital disorder of glycosylation
-
ALG11 p.Ser336Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG11 p.Thr275Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG11 p.Thr55Ala
Uncertain significance
Multiple submitters
ALG11-congenital disorder of glycosylation
-
ALG11 p.Trp260Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG11 p.Val271Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG11 c.*277G>T
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 c.*297G>A
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 c.*491G>A
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 c.*754A>C
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 c.*789A>G
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 c.*953A>G
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Ala221Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Ala221Gly
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Ala2Val
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Ala467Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Ala74Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Arg80Gly
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Asn212Lys
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
- ALG11 p.Asn314Asp Uncertain significance Single submitter
-
ALG11 p.Asn397Thr
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Asn61Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Asp174His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Asp363Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Asp425Asn
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Cys11Gly
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
- ALG11 p.Cys11Ser Uncertain significance Single submitter
-
ALG11 p.Cys345Phe
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Cys84Tyr
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Glu431Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Gly160Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Gly248Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Gly24Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Gly300Glu
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Gly411Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Gly77Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Gly78Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.His315Asp
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Ile122Leu
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Ile157Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Ile215Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Ile374Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Ile37Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Ile42Val
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Ile452Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Ile65Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ALG11 p.Leu10Pro Uncertain significance Single submitter
-
ALG11 p.Leu20Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Leu352Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Leu46Pro
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Lys296Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Lys313Glu
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Lys382Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Met165Thr
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Met176Val
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
- ALG11 p.Met395Val Uncertain significance Single submitter
-
ALG11 p.Met63Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Met63Leu
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Met63Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Phe117Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Phe222Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ALG11 p.Phe437Val Uncertain significance Single submitter
- ALG11 p.Pro280Leu Uncertain significance Single submitter
-
ALG11 p.Pro316Ala
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Pro422Ser
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Ser258Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Ser56Arg
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
- ALG11 p.Thr102Ile Uncertain significance Single submitter
-
ALG11 p.Thr286Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Thr55Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ALG11 p.Thr55Ser Uncertain significance Single submitter
-
ALG11 p.Tyr18Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Val100Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Val210Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Val247Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Val304Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Val331Phe
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
- ALG11 p.Val33Met Uncertain significance Single submitter
-
ALG11 p.Val405Ala
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Val64Met
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
Predictors split 16
The independent predictors disagree with each other — read with care.
- ALG11 c.*1170G>A Benign Multiple submitters
-
ALG11 c.*540T>A
Uncertain significance
Multiple submitters
ALG11-congenital disorder of glycosylation
-
ALG11 p.Cys407Phe
Uncertain significance
Multiple submitters
ALG11-congenital disorder of glycosylation
-
ALG11 p.Pro311Leu
Uncertain significance
Multiple submitters
ALG11-congenital disorder of glycosylation
-
ALG11 p.Arg87Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Asn73Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Cys407Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Glu398Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Leu339Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Lys423Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ALG11 p.Phe217Ile Uncertain significance Single submitter
-
ALG11 p.Pro94Arg
Uncertain significance
Single submitter
ALG11-congenital disorder of glycosylation
-
ALG11 p.Thr201Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Thr435Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Tyr93Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG11 p.Val271Gly
Uncertain significance
Single submitter
Inborn genetic diseases
All ALG11 variants
Pathogenic 7
- p.Asn375fs Single submitter
- p.Cys9Ter Single submitter ALG11-congenital disorder of glycosylation
- p.Lys296fs Single submitter ALG11-congenital disorder of glycosylation
- p.Val139Gly Single submitter Seizure
- p.Gln318Pro No assertion criteria ALG11-congenital disorder of glycosylation
- p.Leu381Ser No assertion criteria ALG11-congenital disorder of glycosylation
- p.Leu86Ser No assertion criteria ALG11-congenital disorder of glycosylation
Pathogenic/Likely pathogenic 2
- p.Ser208fs No assertion criteria ALG11-related disorder
- p.Tyr279Ser No assertion criteria ALG11-related disorder
Likely pathogenic 8
- c.45-2A>T Multiple submitters ALG11-congenital disorder of glycosylation
- p.Arg468Cys Multiple submitters ALG11-congenital disorder of glycosylation ⚠
- p.Arg468His Multiple submitters ALG11-congenital disorder of glycosylation
- p.Met1Val Multiple submitters ALG11-related disorder
- p.Met395Thr Multiple submitters ALG11-congenital disorder of glycosylation
- p.Glu5Ter Single submitter ALG11-congenital disorder of glycosylation
- p.Met408Arg Single submitter ALG11-congenital disorder of glycosylation
- p.Gly436Val No assertion criteria ALG11-congenital disorder of glycosylation
Conflicting classifications of pathogenicity 8
- c.1208-6T>C Single submitter ALG11-congenital disorder of glycosylation
- p.Ala179Thr Single submitter ALG11-congenital disorder of glycosylation
- p.Glu312Gly Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Gly216Arg Single submitter ⚠
- p.Gly343= Single submitter ALG11-congenital disorder of glycosylation
- p.Ile414Asn Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Lys329del Single submitter ALG11-congenital disorder of glycosylation
- p.Lys423= Single submitter ALG11-congenital disorder of glycosylation
Benign 9
- c.1207+62A>G Multiple submitters
- c.276-254A>G Multiple submitters
- c.*1170G>A Multiple submitters ⚠
- c.*193A>C Multiple submitters ALG11-congenital disorder of glycosylation
- c.*468G>T Multiple submitters ALG11-congenital disorder of glycosylation
- c.*515A>G Multiple submitters ALG11-congenital disorder of glycosylation
- p.Asn108Ser Multiple submitters ALG11-congenital disorder of glycosylation
- p.Pro311= Multiple submitters ALG11-congenital disorder of glycosylation
- c.276-194dup Single submitter
Benign/Likely benign 4
- c.44+20G>T Multiple submitters ALG11-congenital disorder of glycosylation
- p.Asn58Ile Multiple submitters ALG11-congenital disorder of glycosylation
- p.Gly344= Multiple submitters ALG11-congenital disorder of glycosylation
- p.Tyr369= Multiple submitters ALG11-congenital disorder of glycosylation
Likely benign 44
- c.44+324T>C Multiple submitters ALG11-congenital disorder of glycosylation
- c.*173G>A Multiple submitters ALG11-congenital disorder of glycosylation
- p.Leu484= Multiple submitters ALG11-congenital disorder of glycosylation
- p.Thr181= Multiple submitters ALG11-congenital disorder of glycosylation
- c.1208-14G>T Single submitter ALG11-congenital disorder of glycosylation
- c.1208-213dup Single submitter
- c.1208-225T>A Single submitter
- c.1208-7T>C Single submitter ALG11-congenital disorder of glycosylation
- c.44+10C>G Single submitter
- c.44+19G>A Single submitter ALG11-congenital disorder of glycosylation
- c.45-121G>A Single submitter
- c.45-331G>C Single submitter
- p.Ala450Val Single submitter ALG11-congenital disorder of glycosylation
- p.Arg134= Single submitter ALG11-congenital disorder of glycosylation
- p.Arg358= Single submitter
- p.Arg6= Single submitter ALG11-congenital disorder of glycosylation
- p.Asn226= Single submitter ALG11-congenital disorder of glycosylation
- p.Asn397= Single submitter ALG11-congenital disorder of glycosylation
- p.Cys9Tyr Single submitter Inborn genetic diseases
- p.Glu431= Single submitter
- p.Gly103= Single submitter ALG11-congenital disorder of glycosylation
- p.Gly245= Single submitter
- p.Gly272= Single submitter ALG11-congenital disorder of glycosylation
- p.Ile290= Single submitter
- p.Leu149= Single submitter ALG11-congenital disorder of glycosylation
- p.Leu266= Single submitter ALG11-congenital disorder of glycosylation
- p.Leu268= Single submitter
- p.Leu292= Single submitter ALG11-congenital disorder of glycosylation
- p.Leu52Ser Single submitter Inborn genetic diseases
- p.Lys329= Single submitter ALG11-congenital disorder of glycosylation
- p.Met455Leu Single submitter Inborn genetic diseases
- p.Ser258= Single submitter
- p.Ser336= Single submitter
- p.Ser419= Single submitter
- p.Thr102= Single submitter ALG11-congenital disorder of glycosylation
- p.Thr204= Single submitter ALG11-congenital disorder of glycosylation
- p.Thr448= Single submitter
- p.Tyr144= Single submitter ALG11-congenital disorder of glycosylation
- p.Tyr178= Single submitter ALG11-congenital disorder of glycosylation
- p.Val232= Single submitter
- p.Val284= Single submitter
- p.Val427= Single submitter ALG11-congenital disorder of glycosylation
- c.-9C>T No assertion criteria ALG11-related disorder
- p.Cys9= No assertion criteria ALG11-related disorder
Uncertain significance 122
- c.*540T>A Multiple submitters ALG11-congenital disorder of glycosylation ⚠
- p.Arg136Cys Multiple submitters ALG11-congenital disorder of glycosylation
- p.Arg15Thr Multiple submitters ALG11-congenital disorder of glycosylation ⚠
- p.Arg346Cys Multiple submitters ALG11-congenital disorder of glycosylation ⚠
- p.Arg346His Multiple submitters ALG11-congenital disorder of glycosylation ⚠
- p.Asn257Ser Multiple submitters ALG11-congenital disorder of glycosylation ⚠
- p.Asp174Glu Multiple submitters Inborn genetic diseases ⚠
- p.Cys407Phe Multiple submitters ALG11-congenital disorder of glycosylation ⚠
- p.Gln166Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu387Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu5fs Multiple submitters
- p.Glu5Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly103Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly109Ser Multiple submitters ALG11-congenital disorder of glycosylation ⚠
- p.Leu268Ile Multiple submitters ALG11-congenital disorder of glycosylation ⚠
- p.Leu424Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu86Val Multiple submitters ALG11-congenital disorder of glycosylation ⚠
- p.Pro311Leu Multiple submitters ALG11-congenital disorder of glycosylation ⚠
- p.Ser336Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr275Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr55Ala Multiple submitters ALG11-congenital disorder of glycosylation ⚠
- p.Trp260Arg Multiple submitters Inborn genetic diseases ⚠
- p.Val271Ala Multiple submitters Inborn genetic diseases ⚠
- c.276-13_276-10delinsGGTTAAGATTTTAAC Single submitter
- c.*148A>T Single submitter ALG11-congenital disorder of glycosylation
- c.*22G>T Single submitter ALG11-congenital disorder of glycosylation
- c.*277G>T Single submitter ALG11-congenital disorder of glycosylation ⚠
- c.*297G>A Single submitter ALG11-congenital disorder of glycosylation ⚠
- c.*490C>T Single submitter ALG11-congenital disorder of glycosylation
- c.*491G>A Single submitter ALG11-congenital disorder of glycosylation ⚠
- c.*754A>C Single submitter ALG11-congenital disorder of glycosylation ⚠
- c.*789A>G Single submitter ALG11-congenital disorder of glycosylation ⚠
- c.*953A>G Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Ala221Asp Single submitter Inborn genetic diseases ⚠
- p.Ala221Gly Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Ala2Val Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Ala467Thr Single submitter Inborn genetic diseases ⚠
- p.Ala74Gly Single submitter Inborn genetic diseases ⚠
- p.Arg136His Single submitter
- p.Arg80Gly Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Arg87Gly Single submitter Inborn genetic diseases ⚠
- p.Asn212Lys Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Asn263= Single submitter
- p.Asn314Asp Single submitter ⚠
- p.Asn397Thr Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Asn61Ser Single submitter Inborn genetic diseases ⚠
- p.Asn73Ser Single submitter Inborn genetic diseases ⚠
- p.Asp174His Single submitter Inborn genetic diseases ⚠
- p.Asp205Asn Single submitter Inborn genetic diseases
- p.Asp363Gly Single submitter Inborn genetic diseases ⚠
- p.Asp425Asn Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Cys11Gly Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Cys11Ser Single submitter ⚠
- p.Cys345Phe Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Cys407Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys84Tyr Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Glu398Lys Single submitter Inborn genetic diseases ⚠
- p.Glu431Lys Single submitter Inborn genetic diseases ⚠
- p.Glu488Ter Single submitter ALG11-congenital disorder of glycosylation
- p.Gly160Val Single submitter Inborn genetic diseases ⚠
- p.Gly248Val Single submitter Inborn genetic diseases ⚠
- p.Gly24Arg Single submitter Inborn genetic diseases ⚠
- p.Gly300= Single submitter ALG11-congenital disorder of glycosylation
- p.Gly300Glu Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Gly411Ala Single submitter Inborn genetic diseases ⚠
- p.Gly436fs Single submitter
- p.Gly77Glu Single submitter Inborn genetic diseases ⚠
- p.Gly78Ala Single submitter Inborn genetic diseases ⚠
- p.His315Asp Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Ile122Leu Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Ile157Val Single submitter Inborn genetic diseases ⚠
- p.Ile215Thr Single submitter Inborn genetic diseases ⚠
- p.Ile374Met Single submitter Inborn genetic diseases ⚠
- p.Ile37Met Single submitter Inborn genetic diseases ⚠
- p.Ile42Val Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Ile452Thr Single submitter Inborn genetic diseases ⚠
- p.Ile65Phe Single submitter Inborn genetic diseases ⚠
- p.Leu10Pro Single submitter ⚠
- p.Leu20Phe Single submitter Inborn genetic diseases ⚠
- p.Leu25= Single submitter ALG11-congenital disorder of glycosylation
- p.Leu339Phe Single submitter Inborn genetic diseases ⚠
- p.Leu352Phe Single submitter Inborn genetic diseases ⚠
- p.Leu46Pro Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Lys296Asn Single submitter Inborn genetic diseases ⚠
- p.Lys313Glu Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Lys382Asn Single submitter Inborn genetic diseases ⚠
- p.Lys423Glu Single submitter Inborn genetic diseases ⚠
- p.Lys492fs Single submitter ALG11-congenital disorder of glycosylation
- p.Met165Thr Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Met176Val Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Met395Val Single submitter ⚠
- p.Met63Ile Single submitter Inborn genetic diseases ⚠
- p.Met63Leu Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Met63Val Single submitter Inborn genetic diseases ⚠
- p.Phe117Ser Single submitter Inborn genetic diseases ⚠
- p.Phe217Ile Single submitter ⚠
- p.Phe222Leu Single submitter Inborn genetic diseases ⚠
- p.Phe437Val Single submitter ⚠
- p.Pro280Leu Single submitter ⚠
- p.Pro316Ala Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Pro422Ser Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Pro94Arg Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Ser258Cys Single submitter Inborn genetic diseases ⚠
- p.Ser56Arg Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Thr102Ile Single submitter ⚠
- p.Thr201Ala Single submitter Inborn genetic diseases ⚠
- p.Thr286Ile Single submitter Inborn genetic diseases ⚠
- p.Thr435Ser Single submitter Inborn genetic diseases ⚠
- p.Thr55Pro Single submitter Inborn genetic diseases ⚠
- p.Thr55Ser Single submitter ⚠
- p.Tyr18Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr93Cys Single submitter Inborn genetic diseases ⚠
- p.Val100Ala Single submitter Inborn genetic diseases ⚠
- p.Val131Gly Single submitter Inborn genetic diseases
- p.Val210Ala Single submitter Inborn genetic diseases ⚠
- p.Val247Ala Single submitter Inborn genetic diseases ⚠
- p.Val271Gly Single submitter Inborn genetic diseases ⚠
- p.Val304Ile Single submitter Inborn genetic diseases ⚠
- p.Val331Phe Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Val33Met Single submitter ⚠
- p.Val405Ala Single submitter ALG11-congenital disorder of glycosylation ⚠
- p.Val64Met Single submitter ALG11-congenital disorder of glycosylation ⚠