AGA — 545 ClinVar variants
All ClinVar germline AGA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →
33 Pathogenic · 26 Pathogenic/Likely pathogenic · 58 Likely pathogenic · 11 Conflicting · 35 Benign · 10 Benign/Likely benign · 235 Likely benign · 137 Uncertain significance
Full AGA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 124
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
AGA p.Arg116Trp
Pathogenic/Likely pathogenic
Multiple submitters
aspartylglucosaminuria
-
AGA p.Arg116Gln
Pathogenic
Single submitter
aspartylglucosaminuria
-
AGA p.Pro28Leu
Pathogenic
Single submitter
aspartylglucosaminuria
-
AGA p.Leu15Arg
Likely pathogenic
No assertion criteria
aspartylglucosaminuria
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
AGA p.Thr257Ile
Conflicting
Single submitter
aspartylglucosaminuria
-
AGA p.Val12Leu
Conflicting
Single submitter
aspartylglucosaminuria
Predictors lean, ClinVar uncertain 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AGA p.Arg234Cys
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Asn143Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGA p.Asn259Ser
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Asp200Asn
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Glu130Asp
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Ile172Thr
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Leu10Val
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Ala150Val
Uncertain significance
Single submitter
aspartylglucosaminuria
- AGA p.Ala19Thr Uncertain significance Single submitter
-
AGA p.Ala43Val
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Arg234His
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Arg265Leu
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Asp261Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGA p.Asp80His
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Cys179Arg
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Cys345Arg
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Gln152Lys
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Glu334Lys
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Glu81Asp
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Gly103Glu
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Gly186Ala
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Gly77Glu
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Gly94Arg
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.His204Leu
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ile187Val
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ile192Val
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ile240Thr
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ile305Arg
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ile305Lys
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ile91Thr
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Lys177Arg
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Phe300Leu
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Phe326Leu
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Pro13Leu
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Pro175Ser
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Pro26Ser
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Pro8Leu
Uncertain significance
Single submitter
aspartylglucosaminuria
- AGA p.Ser131Leu Uncertain significance Single submitter
-
AGA p.Ser312Asn
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ser5Leu
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Tyr182Cys
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ala243Ser
Uncertain significance
No assertion criteria
aspartylglucosaminuria
-
AGA p.Arg265Pro
Uncertain significance
No assertion criteria
aspartylglucosaminuria
-
AGA p.Arg278Lys
Uncertain significance
No assertion criteria
aspartylglucosaminuria
-
AGA p.Gly203Ala
Uncertain significance
No assertion criteria
aspartylglucosaminuria
-
AGA p.Leu159Pro
Uncertain significance
No assertion criteria
aspartylglucosaminuria
-
AGA p.Pro241His
Uncertain significance
No assertion criteria
aspartylglucosaminuria
Predictors split 71
The independent predictors disagree with each other — read with care.
-
AGA p.Ala255Thr
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Ala285Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGA p.Arg161Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGA p.Arg265Cys
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Arg265His
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Gly180Arg
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Gly314Ser
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Gly60Ser
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Ile262Thr
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Leu126Val
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Met264Ile
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Phe301Cys
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Phe301Ser
Benign/Likely benign
Multiple submitters
aspartylglucosaminuria
-
AGA p.Thr322Ile
Benign/Likely benign
Multiple submitters
aspartylglucosaminuria
-
AGA p.Tyr275Cys
Uncertain significance
Multiple submitters
aspartylglucosaminuria
-
AGA p.Ala101Thr
Conflicting
Single submitter
aspartylglucosaminuria
-
AGA p.Ala253Thr
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ala285Val
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ala39Thr
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ala56Val
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Arg202Cys
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Arg292Gly
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Arg66Thr
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Asn259Ile
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Asn308Ser
Conflicting
Single submitter
aspartylglucosaminuria
-
AGA p.Asn336His
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Asp104Glu
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Asp104Val
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Asp344His
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Asp93Glu
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Asp98Tyr
Uncertain significance
Single submitter
aspartylglucosaminuria
- AGA p.Cys17Arg Uncertain significance Single submitter
-
AGA p.Gly113Asp
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Gly83Glu
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.His121Arg
Uncertain significance
Single submitter
aspartylglucosaminuria
- AGA p.His155Arg Uncertain significance Single submitter
-
AGA p.His217Tyr
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.His296Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGA p.Ile172Met
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ile207Thr
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ile231Met
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ile293Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGA p.Ile305Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGA p.Ile305Met
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Leu146Val
Conflicting
Single submitter
aspartylglucosaminuria
-
AGA p.Leu16Phe
Uncertain significance
Single submitter
aspartylglucosaminuria
- AGA p.Leu7Phe Uncertain significance Single submitter
-
AGA p.Lys230Arg
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Lys37Glu
Conflicting
Single submitter
aspartylglucosaminuria
-
AGA p.Met264Thr
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Met329Ile
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Met92Ile
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Met97Thr
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Phe75Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGA p.Pro282Ala
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Pro35Leu
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ser147Pro
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ser238Leu
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ser327Gly
Conflicting
Single submitter
aspartylglucosaminuria
-
AGA p.Tyr270Cys
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Val102Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGA p.Val114Met
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Val289Met
Uncertain significance
Single submitter
aspartylglucosaminuria
-
AGA p.Ala303Thr
Uncertain significance
No assertion criteria
aspartylglucosaminuria
-
AGA p.Gly203Val
Uncertain significance
No assertion criteria
aspartylglucosaminuria
-
AGA p.Ile112Val
Uncertain significance
No assertion criteria
aspartylglucosaminuria
-
AGA p.Ile290Met
Uncertain significance
No assertion criteria
aspartylglucosaminuria
-
AGA p.Phe75Ser
Uncertain significance
No assertion criteria
aspartylglucosaminuria
-
AGA p.Pro298Ala
Uncertain significance
No assertion criteria
aspartylglucosaminuria
-
AGA p.Ser25Arg
Uncertain significance
No assertion criteria
aspartylglucosaminuria
-
AGA p.Thr324Ile
Likely benign
No assertion criteria
intellectual disability
All AGA variants
Pathogenic 33
- c.128-2A>G Multiple submitters aspartylglucosaminuria
- p.Ala19fs Multiple submitters aspartylglucosaminuria
- p.Arg107Ter Multiple submitters aspartylglucosaminuria
- p.Cys163Ser Multiple submitters aspartylglucosaminuria
- p.Glu67fs Multiple submitters aspartylglucosaminuria
- p.Met63fs Multiple submitters aspartylglucosaminuria
- p.Ser72Pro Multiple submitters aspartylglucosaminuria
- p.Trp34fs Multiple submitters aspartylglucosaminuria
- c.623-1G>A Single submitter aspartylglucosaminuria
- c.698+1del Single submitter aspartylglucosaminuria
- c.940+1G>A Single submitter aspartylglucosaminuria
- p.Arg116Gln Single submitter aspartylglucosaminuria ⚠
- p.Asn170fs Single submitter aspartylglucosaminuria
- p.Asn32Lys Single submitter intellectual disability
- p.Asn38Ter Single submitter intellectual disability
- p.Asp174fs Single submitter aspartylglucosaminuria
- p.Asp70fs Single submitter aspartylglucosaminuria
- p.Gln137Ter Single submitter aspartylglucosaminuria
- p.Gln287Ter Single submitter aspartylglucosaminuria
- p.Gln68Ter Single submitter aspartylglucosaminuria
- p.Glu58Ter Single submitter aspartylglucosaminuria
- p.Gly186fs Single submitter aspartylglucosaminuria
- p.Leu267fs Single submitter aspartylglucosaminuria
- p.Leu29fs Single submitter aspartylglucosaminuria
- p.Lys4fs Single submitter aspartylglucosaminuria
- p.Met90fs Single submitter aspartylglucosaminuria
- p.Pro28Leu Single submitter aspartylglucosaminuria ⚠
- p.Ser72_Val73insTer Single submitter aspartylglucosaminuria
- p.Thr222fs Single submitter aspartylglucosaminuria
- p.Trp158Ter Single submitter aspartylglucosaminuria
- p.Trp168Ter Single submitter aspartylglucosaminuria
- p.Val30fs Single submitter aspartylglucosaminuria
- p.Gly302Arg No assertion criteria aspartylglucosaminuria
Pathogenic/Likely pathogenic 26
- c.395-8A>G Multiple submitters aspartylglucosaminuria
- c.698+1G>T Multiple submitters aspartylglucosaminuria
- c.940+1G>T Multiple submitters aspartylglucosaminuria
- p.Ala101Val Multiple submitters aspartylglucosaminuria
- p.Arg116Trp Multiple submitters aspartylglucosaminuria ⚠
- p.Arg66fs Multiple submitters aspartylglucosaminuria
- p.Asn110fs Multiple submitters Inborn genetic diseases
- p.Cys179Ter Multiple submitters aspartylglucosaminuria
- p.Cys64fs Multiple submitters aspartylglucosaminuria
- p.Gln152Ter Multiple submitters aspartylglucosaminuria
- p.Gln18Ter Multiple submitters aspartylglucosaminuria
- p.Glu130fs Multiple submitters aspartylglucosaminuria
- p.Glu199Ter Multiple submitters aspartylglucosaminuria
- p.Glu340Ter Multiple submitters aspartylglucosaminuria
- p.Gly226Asp Multiple submitters aspartylglucosaminuria
- p.Gly252Glu Multiple submitters aspartylglucosaminuria
- p.Ile112fs Multiple submitters aspartylglucosaminuria
- p.Lys288_Val289insTer Multiple submitters aspartylglucosaminuria
- p.Met1Val Multiple submitters aspartylglucosaminuria
- p.Pro268fs Multiple submitters Inborn genetic diseases
- p.Thr122Lys Multiple submitters aspartylglucosaminuria
- p.Thr123fs Multiple submitters aspartylglucosaminuria
- p.Thr125_Leu126insTer Multiple submitters aspartylglucosaminuria
- p.Thr125fs Multiple submitters aspartylglucosaminuria
- p.Ala42_Ala43insAspAla No assertion criteria aspartylglucosaminuria
- p.Thr33_Trp34insTer No assertion criteria aspartylglucosaminuria
Likely pathogenic 58
- c.127+1G>A Multiple submitters aspartylglucosaminuria
- c.127+1G>T Multiple submitters aspartylglucosaminuria
- c.281+1G>T Multiple submitters aspartylglucosaminuria
- c.508-2A>C Multiple submitters aspartylglucosaminuria
- c.508-2A>G Multiple submitters aspartylglucosaminuria
- p.Glu199fs Multiple submitters aspartylglucosaminuria
- p.Glu67Ter Multiple submitters aspartylglucosaminuria
- p.Gly100Glu Multiple submitters aspartylglucosaminuria
- p.Gly60Asp Multiple submitters aspartylglucosaminuria
- p.Trp44Ter Multiple submitters aspartylglucosaminuria
- c.128-2A>C Single submitter aspartylglucosaminuria
- c.281+1G>A Single submitter aspartylglucosaminuria
- c.282-2A>G Single submitter aspartylglucosaminuria
- c.385_394+15del Single submitter aspartylglucosaminuria
- c.394+1G>A Single submitter Inborn genetic diseases
- c.507+1G>C Single submitter aspartylglucosaminuria
- c.508-1G>T Single submitter aspartylglucosaminuria
- c.623-1G>T Single submitter aspartylglucosaminuria
- c.698+1G>A Single submitter aspartylglucosaminuria
- c.698+2T>C Single submitter aspartylglucosaminuria
- c.698+2T>G Single submitter aspartylglucosaminuria
- c.699-1G>C Single submitter aspartylglucosaminuria
- c.807-1G>A Single submitter aspartylglucosaminuria
- c.940+1G>C Single submitter aspartylglucosaminuria
- c.941-1G>T Single submitter aspartylglucosaminuria
- p.Asn38fs Single submitter aspartylglucosaminuria
- p.Cys306Arg Single submitter aspartylglucosaminuria
- p.Gln68fs Single submitter aspartylglucosaminuria
- p.Ile240fs Single submitter aspartylglucosaminuria
- p.Leu126fs Single submitter aspartylglucosaminuria
- p.Leu127fs Single submitter aspartylglucosaminuria
- p.Leu15fs Single submitter aspartylglucosaminuria
- p.Lys109Ter Single submitter aspartylglucosaminuria
- p.Lys37fs Single submitter aspartylglucosaminuria
- p.Lys4Ter Single submitter aspartylglucosaminuria
- p.Met1Ile Single submitter aspartylglucosaminuria
- p.Met1Thr Single submitter aspartylglucosaminuria
- p.Phe135Ser Single submitter aspartylglucosaminuria
- p.Pro185fs Single submitter aspartylglucosaminuria
- p.Pro28fs Single submitter aspartylglucosaminuria
- p.Ser147fs Single submitter aspartylglucosaminuria
- p.Trp158fs Single submitter aspartylglucosaminuria
- p.Tyr246fs Single submitter aspartylglucosaminuria
- p.Tyr275Ter Single submitter aspartylglucosaminuria
- p.Val128fs Single submitter aspartylglucosaminuria
- p.Val235fs Single submitter aspartylglucosaminuria
- c.623-2A>G No assertion criteria aspartylglucosaminuria
- c.941-2A>G No assertion criteria aspartylglucosaminuria
- p.Cys64Ter No assertion criteria aspartylglucosaminuria
- p.Gln164Ter No assertion criteria aspartylglucosaminuria
- p.Glu41Ter No assertion criteria aspartylglucosaminuria
- p.Gly252Arg No assertion criteria aspartylglucosaminuria
- p.His124fs No assertion criteria aspartylglucosaminuria
- p.Ile262_Leu263insTer No assertion criteria aspartylglucosaminuria
- p.Leu10fs No assertion criteria aspartylglucosaminuria
- p.Leu15Arg No assertion criteria aspartylglucosaminuria ⚠
- p.Ser24fs No assertion criteria aspartylglucosaminuria
- p.Tyr331Ter No assertion criteria aspartylglucosaminuria
Conflicting classifications of pathogenicity 11
- c.623-13T>G Single submitter aspartylglucosaminuria
- p.Ala101Thr Single submitter aspartylglucosaminuria ⚠
- p.Ala254= Single submitter Inborn genetic diseases
- p.Asn225= Single submitter aspartylglucosaminuria
- p.Asn308Ser Single submitter aspartylglucosaminuria ⚠
- p.Leu146Val Single submitter aspartylglucosaminuria ⚠
- p.Lys295= Single submitter Inborn genetic diseases
- p.Lys37Glu Single submitter aspartylglucosaminuria ⚠
- p.Ser327Gly Single submitter aspartylglucosaminuria ⚠
- p.Thr257Ile Single submitter aspartylglucosaminuria ⚠
- p.Val12Leu Single submitter aspartylglucosaminuria ⚠
Benign 35
- c.127+25C>T Multiple submitters aspartylglucosaminuria
- c.128-41A>T Multiple submitters
- c.281+265A>G Multiple submitters
- c.282-209G>T Multiple submitters
- c.507+180T>C Multiple submitters
- c.623-10del Multiple submitters aspartylglucosaminuria
- c.698+64G>A Multiple submitters
- c.699-25G>C Multiple submitters aspartylglucosaminuria
- c.941-84C>G Multiple submitters aspartylglucosaminuria
- c.*183A>C Multiple submitters
- c.128-226del Single submitter
- c.128-238_128-237dup Single submitter
- c.282-176del Single submitter
- c.394+10dup Single submitter aspartylglucosaminuria
- c.394+180G>A Single submitter
- c.394+19_394+20del Single submitter aspartylglucosaminuria
- c.394+254G>T Single submitter
- c.395-12del Single submitter aspartylglucosaminuria
- c.395-134G>A Single submitter
- c.395-185A>G Single submitter
- c.507+220A>G Single submitter
- c.622+20G>T Single submitter aspartylglucosaminuria
- c.623-11_623-10del Single submitter aspartylglucosaminuria
- c.623-21dup Single submitter aspartylglucosaminuria
- c.623-67_623-62dup Single submitter
- c.699-237G>A Single submitter
- c.806+13_806+16del Single submitter aspartylglucosaminuria
- c.806+202C>G Single submitter
- c.807-12dup Single submitter aspartylglucosaminuria
- c.807-166G>T Single submitter
- c.807-179T>A Single submitter
- c.*220G>C Single submitter
- c.*882A>C Single submitter aspartylglucosaminuria
- c.*8T>C Single submitter aspartylglucosaminuria
- p.Asp248= Single submitter aspartylglucosaminuria
Benign/Likely benign 10
- c.281+13T>G Multiple submitters aspartylglucosaminuria
- c.622+13T>C Multiple submitters aspartylglucosaminuria
- c.623-7C>T Multiple submitters aspartylglucosaminuria
- p.Ala101= Multiple submitters Inborn genetic diseases
- p.Arg161Gln Multiple submitters aspartylglucosaminuria
- p.Glu341= Multiple submitters aspartylglucosaminuria
- p.Leu105Ile Multiple submitters aspartylglucosaminuria
- p.Lys4Gln Multiple submitters aspartylglucosaminuria
- p.Phe301Ser Multiple submitters aspartylglucosaminuria ⚠
- p.Thr322Ile Multiple submitters aspartylglucosaminuria ⚠
Likely benign 235
- c.282-157G>C Multiple submitters
- p.Cys179= Multiple submitters aspartylglucosaminuria
- p.Leu11= Multiple submitters aspartylglucosaminuria
- p.Phe326= Multiple submitters Inborn genetic diseases
- p.Pro28= Multiple submitters aspartylglucosaminuria
- p.Val57= Multiple submitters Inborn genetic diseases
- c.127+10G>A Single submitter aspartylglucosaminuria
- c.127+11G>A Single submitter aspartylglucosaminuria
- c.127+12C>T Single submitter aspartylglucosaminuria
- c.127+13G>A Single submitter aspartylglucosaminuria
- c.127+14G>A Single submitter aspartylglucosaminuria
- c.127+15C>T Single submitter aspartylglucosaminuria
- c.127+16C>G Single submitter aspartylglucosaminuria
- c.127+16C>T Single submitter aspartylglucosaminuria
- c.127+203C>T Single submitter
- c.127+8T>C Single submitter aspartylglucosaminuria
- c.127+9T>C Single submitter aspartylglucosaminuria
- c.128-14G>A Single submitter aspartylglucosaminuria
- c.128-14G>C Single submitter aspartylglucosaminuria
- c.128-18T>A Single submitter aspartylglucosaminuria
- c.128-18T>C Single submitter aspartylglucosaminuria
- c.128-19A>G Single submitter aspartylglucosaminuria
- c.128-267C>T Single submitter
- c.128-7dup Single submitter aspartylglucosaminuria
- c.281+11C>T Single submitter aspartylglucosaminuria
- c.281+12G>A Single submitter aspartylglucosaminuria
- c.281+15C>G Single submitter aspartylglucosaminuria
- c.281+18G>A Single submitter aspartylglucosaminuria
- c.281+18G>T Single submitter aspartylglucosaminuria
- c.281+8C>T Single submitter aspartylglucosaminuria
- c.281+9A>G Single submitter aspartylglucosaminuria
- c.282-10T>C Single submitter aspartylglucosaminuria
- c.282-12A>G Single submitter aspartylglucosaminuria
- c.282-17A>T Single submitter aspartylglucosaminuria
- c.282-19G>A Single submitter aspartylglucosaminuria
- c.282-6T>C Single submitter aspartylglucosaminuria
- c.282-9T>G Single submitter aspartylglucosaminuria
- c.394+10T>G Single submitter aspartylglucosaminuria
- c.394+13C>T Single submitter aspartylglucosaminuria
- c.394+14T>C Single submitter aspartylglucosaminuria
- c.394+18C>G Single submitter aspartylglucosaminuria
- c.394+18C>T Single submitter aspartylglucosaminuria
- c.394+20_394+21del Single submitter aspartylglucosaminuria
- c.394+285C>A Single submitter
- c.394+7_394+10del Single submitter aspartylglucosaminuria
- c.394+8T>C Single submitter aspartylglucosaminuria
- c.394+9T>C Single submitter aspartylglucosaminuria
- c.395-11C>G Single submitter aspartylglucosaminuria
- c.395-14T>A Single submitter aspartylglucosaminuria
- c.395-155G>A Single submitter
- c.395-19C>G Single submitter aspartylglucosaminuria
- c.395-254C>T Single submitter
- c.395-4C>G Single submitter aspartylglucosaminuria
- c.395-4C>T Single submitter aspartylglucosaminuria
- c.395-5T>C Single submitter aspartylglucosaminuria
- c.395-6C>A Single submitter aspartylglucosaminuria
- c.395-7T>C Single submitter aspartylglucosaminuria
- c.395-9A>T Single submitter aspartylglucosaminuria
- c.507+10C>T Single submitter aspartylglucosaminuria
- c.507+11A>T Single submitter aspartylglucosaminuria
- c.507+16del Single submitter aspartylglucosaminuria
- c.507+19T>G Single submitter aspartylglucosaminuria
- c.507+20A>T Single submitter aspartylglucosaminuria
- c.507+7A>G Single submitter aspartylglucosaminuria
- c.507+8C>T Single submitter aspartylglucosaminuria
- c.507+9A>T Single submitter aspartylglucosaminuria
- c.508-14A>C Single submitter aspartylglucosaminuria
- c.508-16T>A Single submitter aspartylglucosaminuria
- c.508-16T>G Single submitter aspartylglucosaminuria
- c.508-18C>G Single submitter aspartylglucosaminuria
- c.508-18C>T Single submitter aspartylglucosaminuria
- c.508-193G>A Single submitter
- c.508-7T>C Single submitter aspartylglucosaminuria
- c.622+252del Single submitter
- c.622+9_622+15dup Single submitter aspartylglucosaminuria
- c.623-173C>T Single submitter
- c.623-17T>C Single submitter aspartylglucosaminuria
- c.623-18T>G Single submitter aspartylglucosaminuria
- c.623-284C>T Single submitter
- c.623-4C>G Single submitter aspartylglucosaminuria
- c.623-6T>C Single submitter aspartylglucosaminuria
- c.623-9A>C Single submitter aspartylglucosaminuria
- c.698+10T>C Single submitter aspartylglucosaminuria
- c.698+11C>A Single submitter aspartylglucosaminuria
- c.698+13A>G Single submitter aspartylglucosaminuria
- c.698+14A>G Single submitter aspartylglucosaminuria
- c.698+19A>C Single submitter aspartylglucosaminuria
- c.698+20C>T Single submitter aspartylglucosaminuria
- c.698+7G>C Single submitter aspartylglucosaminuria
- c.699-11C>A Single submitter aspartylglucosaminuria
- c.699-11C>T Single submitter aspartylglucosaminuria
- c.699-12A>G Single submitter aspartylglucosaminuria
- c.699-17T>C Single submitter aspartylglucosaminuria
- c.699-5C>T Single submitter aspartylglucosaminuria
- c.699-9C>G Single submitter aspartylglucosaminuria
- c.699-9C>T Single submitter aspartylglucosaminuria
- c.806+11T>C Single submitter aspartylglucosaminuria
- c.806+11T>G Single submitter aspartylglucosaminuria
- c.806+12T>A Single submitter aspartylglucosaminuria
- c.806+13dup Single submitter aspartylglucosaminuria
- c.806+14G>C Single submitter aspartylglucosaminuria
- c.806+19T>C Single submitter aspartylglucosaminuria
- c.806+20G>A Single submitter aspartylglucosaminuria
- c.806+232A>G Single submitter
- c.806+7C>A Single submitter aspartylglucosaminuria
- c.806+7C>T Single submitter aspartylglucosaminuria
- c.807-11G>C Single submitter aspartylglucosaminuria
- c.807-13del Single submitter aspartylglucosaminuria
- c.807-15C>T Single submitter aspartylglucosaminuria
- c.807-17A>C Single submitter aspartylglucosaminuria
- c.807-8T>A Single submitter aspartylglucosaminuria
- c.940+13T>C Single submitter aspartylglucosaminuria
- c.940+20T>C Single submitter aspartylglucosaminuria
- c.940+8G>A Single submitter aspartylglucosaminuria
- c.940+8G>T Single submitter aspartylglucosaminuria
- c.940+9T>C Single submitter aspartylglucosaminuria
- c.941-17C>T Single submitter aspartylglucosaminuria
- c.941-20T>C Single submitter aspartylglucosaminuria
- c.941-243CAA[3] Single submitter
- c.941-253G>A Single submitter
- c.941-5C>T Single submitter aspartylglucosaminuria
- c.941-7G>T Single submitter aspartylglucosaminuria
- c.941-8G>T Single submitter aspartylglucosaminuria
- p.Ala19= Single submitter aspartylglucosaminuria
- p.Ala219= Single submitter aspartylglucosaminuria
- p.Ala247= Single submitter aspartylglucosaminuria
- p.Ala272= Single submitter aspartylglucosaminuria
- p.Ala316= Single submitter aspartylglucosaminuria
- p.Ala43= Single submitter aspartylglucosaminuria
- p.Ala46= Single submitter aspartylglucosaminuria
- p.Ala53= Single submitter aspartylglucosaminuria
- p.Ala56= Single submitter aspartylglucosaminuria
- p.Ala62= Single submitter aspartylglucosaminuria
- p.Arg107= Single submitter aspartylglucosaminuria
- p.Arg116= Single submitter aspartylglucosaminuria
- p.Arg22= Single submitter aspartylglucosaminuria
- p.Arg265= Single submitter aspartylglucosaminuria
- p.Arg45= Single submitter aspartylglucosaminuria
- p.Asn110= Single submitter aspartylglucosaminuria
- p.Asn170= Single submitter aspartylglucosaminuria
- p.Asn6= Single submitter aspartylglucosaminuria
- p.Asp145= Single submitter aspartylglucosaminuria
- p.Asp157= Single submitter aspartylglucosaminuria
- p.Asp200= Single submitter aspartylglucosaminuria
- p.Asp205= Single submitter Inborn genetic diseases
- p.Asp237= Single submitter aspartylglucosaminuria
- p.Asp249Asn Single submitter aspartylglucosaminuria
- p.Asp55= Single submitter aspartylglucosaminuria
- p.Asp70= Single submitter aspartylglucosaminuria
- p.Asp80= Single submitter aspartylglucosaminuria
- p.Asp93= Single submitter aspartylglucosaminuria
- p.Cys163= Single submitter aspartylglucosaminuria
- p.Cys306= Single submitter aspartylglucosaminuria
- p.Gln137= Single submitter aspartylglucosaminuria
- p.Gln190= Single submitter aspartylglucosaminuria
- p.Gln68= Single submitter aspartylglucosaminuria
- p.Glu144= Single submitter aspartylglucosaminuria
- p.Glu274= Single submitter aspartylglucosaminuria
- p.Glu299= Single submitter aspartylglucosaminuria
- p.Gly140= Single submitter aspartylglucosaminuria
- p.Gly180= Single submitter aspartylglucosaminuria
- p.Gly208= Single submitter aspartylglucosaminuria
- p.Gly236= Single submitter aspartylglucosaminuria
- p.Gly252= Single submitter aspartylglucosaminuria
- p.Gly258= Single submitter aspartylglucosaminuria
- p.Gly260= Single submitter aspartylglucosaminuria
- p.Gly279= Single submitter aspartylglucosaminuria
- p.Gly302= Single submitter aspartylglucosaminuria
- p.Gly50= Single submitter aspartylglucosaminuria
- p.Gly51= Single submitter aspartylglucosaminuria
- p.Gly74= Single submitter aspartylglucosaminuria
- p.His195= Single submitter aspartylglucosaminuria
- p.His232= Single submitter aspartylglucosaminuria
- p.Ile142= Single submitter aspartylglucosaminuria
- p.Ile194= Single submitter aspartylglucosaminuria
- p.Ile212= Single submitter aspartylglucosaminuria
- p.Ile284= Single submitter aspartylglucosaminuria
- p.Ile290= Single submitter aspartylglucosaminuria
- p.Ile293= Single submitter aspartylglucosaminuria
- p.Ile346= Single submitter aspartylglucosaminuria
- p.Leu15= Single submitter aspartylglucosaminuria
- p.Leu16= Single submitter aspartylglucosaminuria
- p.Leu20= Single submitter aspartylglucosaminuria
- p.Leu263= Single submitter aspartylglucosaminuria
- p.Leu267= Single submitter aspartylglucosaminuria
- p.Leu27= Single submitter aspartylglucosaminuria
- p.Leu320= Single submitter aspartylglucosaminuria
- p.Leu54= Single submitter aspartylglucosaminuria
- p.Leu7= Single submitter aspartylglucosaminuria
- p.Leu87= Single submitter aspartylglucosaminuria
- p.Lys183= Single submitter aspartylglucosaminuria
- p.Phe229= Single submitter aspartylglucosaminuria
- p.Pro181= Single submitter aspartylglucosaminuria
- p.Pro184= Single submitter aspartylglucosaminuria
- p.Pro241= Single submitter aspartylglucosaminuria
- p.Pro298= Single submitter aspartylglucosaminuria
- p.Pro35= Single submitter aspartylglucosaminuria
- p.Pro8= Single submitter aspartylglucosaminuria
- p.Ser151= Single submitter aspartylglucosaminuria
- p.Ser176= Single submitter aspartylglucosaminuria
- p.Ser24= Single submitter aspartylglucosaminuria
- p.Ser25= Single submitter aspartylglucosaminuria
- p.Ser312= Single submitter aspartylglucosaminuria
- p.Ser333= Single submitter aspartylglucosaminuria
- p.Ser5= Single submitter aspartylglucosaminuria
- p.Ser59= Single submitter aspartylglucosaminuria
- p.Ser72= Single submitter aspartylglucosaminuria
- p.Ter347= Single submitter aspartylglucosaminuria
- p.Thr134= Single submitter aspartylglucosaminuria
- p.Thr149Ser Single submitter aspartylglucosaminuria
- p.Thr215= Single submitter aspartylglucosaminuria
- p.Thr250= Single submitter aspartylglucosaminuria
- p.Thr257= Single submitter aspartylglucosaminuria
- p.Thr322= Single submitter aspartylglucosaminuria
- p.Thr33= Single submitter aspartylglucosaminuria
- p.Thr339= Single submitter aspartylglucosaminuria
- p.Thr40= Single submitter aspartylglucosaminuria
- p.Thr96Ser Single submitter aspartylglucosaminuria
- p.Tyr167= Single submitter aspartylglucosaminuria
- p.Tyr178= Single submitter aspartylglucosaminuria
- p.Tyr246= Single submitter aspartylglucosaminuria
- p.Tyr270= Single submitter aspartylglucosaminuria
- p.Val102= Single submitter aspartylglucosaminuria
- p.Val21= Single submitter aspartylglucosaminuria
- p.Val235= Single submitter aspartylglucosaminuria
- p.Val289= Single submitter aspartylglucosaminuria
- p.Val30= Single submitter aspartylglucosaminuria
- p.Val31= Single submitter aspartylglucosaminuria
- p.Val73= Single submitter aspartylglucosaminuria
- p.Val9= Single submitter aspartylglucosaminuria
- c.127+22G>A No assertion criteria
- c.622+8G>T No assertion criteria AGA-related disorder
- c.698+27C>T No assertion criteria
- p.Pro26= No assertion criteria aspartylglucosaminuria
- p.Thr324Ile No assertion criteria intellectual disability ⚠
Uncertain significance 137
- c.806+3A>G Multiple submitters aspartylglucosaminuria
- p.Ala255Thr Multiple submitters aspartylglucosaminuria ⚠
- p.Ala285Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg161Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg234Cys Multiple submitters aspartylglucosaminuria ⚠
- p.Arg265Cys Multiple submitters aspartylglucosaminuria ⚠
- p.Arg265His Multiple submitters aspartylglucosaminuria ⚠
- p.Asn143Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn259Ser Multiple submitters aspartylglucosaminuria ⚠
- p.Asn336fs Multiple submitters aspartylglucosaminuria
- p.Asp200Asn Multiple submitters aspartylglucosaminuria ⚠
- p.Glu130Asp Multiple submitters aspartylglucosaminuria ⚠
- p.Gly180Arg Multiple submitters aspartylglucosaminuria ⚠
- p.Gly279del Multiple submitters aspartylglucosaminuria
- p.Gly314Ser Multiple submitters aspartylglucosaminuria ⚠
- p.Gly60Ser Multiple submitters aspartylglucosaminuria ⚠
- p.Ile172Thr Multiple submitters aspartylglucosaminuria ⚠
- p.Ile262Thr Multiple submitters aspartylglucosaminuria ⚠
- p.Leu10Val Multiple submitters aspartylglucosaminuria ⚠
- p.Leu126Val Multiple submitters aspartylglucosaminuria ⚠
- p.Met264Ile Multiple submitters aspartylglucosaminuria ⚠
- p.Phe301Cys Multiple submitters aspartylglucosaminuria ⚠
- p.Tyr275Cys Multiple submitters aspartylglucosaminuria ⚠
- c.127+5G>A Single submitter aspartylglucosaminuria
- c.281+12_281+13delinsAG Single submitter aspartylglucosaminuria
- c.394+6T>C Single submitter aspartylglucosaminuria
- c.507+5G>C Single submitter aspartylglucosaminuria
- c.623-3T>C Single submitter aspartylglucosaminuria
- c.807-3C>T Single submitter aspartylglucosaminuria
- c.-1G>C Single submitter
- c.*136T>C Single submitter aspartylglucosaminuria
- c.*13G>C Single submitter aspartylglucosaminuria
- c.*219T>C Single submitter aspartylglucosaminuria
- c.*35G>C Single submitter aspartylglucosaminuria
- c.*457A>G Single submitter aspartylglucosaminuria
- c.*635A>G Single submitter aspartylglucosaminuria
- c.*851G>A Single submitter aspartylglucosaminuria
- c.*856C>G Single submitter aspartylglucosaminuria
- c.*915G>A Single submitter aspartylglucosaminuria
- p.Ala150Val Single submitter aspartylglucosaminuria ⚠
- p.Ala19Thr Single submitter ⚠
- p.Ala253Thr Single submitter aspartylglucosaminuria ⚠
- p.Ala285Val Single submitter aspartylglucosaminuria ⚠
- p.Ala39Thr Single submitter aspartylglucosaminuria ⚠
- p.Ala43Val Single submitter aspartylglucosaminuria ⚠
- p.Ala56Val Single submitter aspartylglucosaminuria ⚠
- p.Arg202Cys Single submitter aspartylglucosaminuria ⚠
- p.Arg234His Single submitter aspartylglucosaminuria ⚠
- p.Arg265Leu Single submitter aspartylglucosaminuria ⚠
- p.Arg292Gly Single submitter aspartylglucosaminuria ⚠
- p.Arg66Thr Single submitter aspartylglucosaminuria ⚠
- p.Asn259Ile Single submitter aspartylglucosaminuria ⚠
- p.Asn336His Single submitter aspartylglucosaminuria ⚠
- p.Asp104Glu Single submitter aspartylglucosaminuria ⚠
- p.Asp104Val Single submitter aspartylglucosaminuria ⚠
- p.Asp261Asn Single submitter Inborn genetic diseases ⚠
- p.Asp344His Single submitter aspartylglucosaminuria ⚠
- p.Asp80His Single submitter aspartylglucosaminuria ⚠
- p.Asp93Glu Single submitter aspartylglucosaminuria ⚠
- p.Asp98Tyr Single submitter aspartylglucosaminuria ⚠
- p.Cys179Arg Single submitter aspartylglucosaminuria ⚠
- p.Cys17Arg Single submitter ⚠
- p.Cys345Arg Single submitter aspartylglucosaminuria ⚠
- p.Gln152Lys Single submitter aspartylglucosaminuria ⚠
- p.Glu334Lys Single submitter aspartylglucosaminuria ⚠
- p.Glu334Ter Single submitter aspartylglucosaminuria
- p.Glu340fs Single submitter
- p.Glu81Asp Single submitter aspartylglucosaminuria ⚠
- p.Gly103Glu Single submitter aspartylglucosaminuria ⚠
- p.Gly113Asp Single submitter aspartylglucosaminuria ⚠
- p.Gly186Ala Single submitter aspartylglucosaminuria ⚠
- p.Gly77Glu Single submitter aspartylglucosaminuria ⚠
- p.Gly83Glu Single submitter aspartylglucosaminuria ⚠
- p.Gly94Arg Single submitter aspartylglucosaminuria ⚠
- p.His121Arg Single submitter aspartylglucosaminuria ⚠
- p.His155Arg Single submitter ⚠
- p.His204Leu Single submitter aspartylglucosaminuria ⚠
- p.His217Tyr Single submitter aspartylglucosaminuria ⚠
- p.His296Pro Single submitter Inborn genetic diseases ⚠
- p.Ile172Met Single submitter aspartylglucosaminuria ⚠
- p.Ile187Val Single submitter aspartylglucosaminuria ⚠
- p.Ile192Val Single submitter aspartylglucosaminuria ⚠
- p.Ile207Thr Single submitter aspartylglucosaminuria ⚠
- p.Ile231Met Single submitter aspartylglucosaminuria ⚠
- p.Ile240Thr Single submitter aspartylglucosaminuria ⚠
- p.Ile293Met Single submitter Inborn genetic diseases ⚠
- p.Ile305Arg Single submitter aspartylglucosaminuria ⚠
- p.Ile305Leu Single submitter Inborn genetic diseases ⚠
- p.Ile305Lys Single submitter aspartylglucosaminuria ⚠
- p.Ile305Met Single submitter aspartylglucosaminuria ⚠
- p.Ile91Thr Single submitter aspartylglucosaminuria ⚠
- p.Leu16Phe Single submitter aspartylglucosaminuria ⚠
- p.Leu7Phe Single submitter ⚠
- p.Lys177Arg Single submitter aspartylglucosaminuria ⚠
- p.Lys230Arg Single submitter aspartylglucosaminuria ⚠
- p.Met264Thr Single submitter aspartylglucosaminuria ⚠
- p.Met329Ile Single submitter aspartylglucosaminuria ⚠
- p.Met92Ile Single submitter aspartylglucosaminuria ⚠
- p.Met97Thr Single submitter aspartylglucosaminuria ⚠
- p.Phe300Leu Single submitter aspartylglucosaminuria ⚠
- p.Phe326Leu Single submitter aspartylglucosaminuria ⚠
- p.Phe75Cys Single submitter Inborn genetic diseases ⚠
- p.Pro13Leu Single submitter aspartylglucosaminuria ⚠
- p.Pro175Ser Single submitter aspartylglucosaminuria ⚠
- p.Pro26Ser Single submitter aspartylglucosaminuria ⚠
- p.Pro282Ala Single submitter aspartylglucosaminuria ⚠
- p.Pro35Leu Single submitter aspartylglucosaminuria ⚠
- p.Pro8Leu Single submitter aspartylglucosaminuria ⚠
- p.Ser131Leu Single submitter ⚠
- p.Ser147Pro Single submitter aspartylglucosaminuria ⚠
- p.Ser238Leu Single submitter aspartylglucosaminuria ⚠
- p.Ser312Asn Single submitter aspartylglucosaminuria ⚠
- p.Ser5Leu Single submitter aspartylglucosaminuria ⚠
- p.Tyr182Cys Single submitter aspartylglucosaminuria ⚠
- p.Tyr270Cys Single submitter aspartylglucosaminuria ⚠
- p.Tyr313= Single submitter aspartylglucosaminuria
- p.Tyr313Ter Single submitter aspartylglucosaminuria
- p.Val102Ile Single submitter Inborn genetic diseases ⚠
- p.Val114Met Single submitter aspartylglucosaminuria ⚠
- p.Val289Met Single submitter aspartylglucosaminuria ⚠
- c.*3C>T No assertion criteria aspartylglucosaminuria
- p.Ala243Ser No assertion criteria aspartylglucosaminuria ⚠
- p.Ala303Thr No assertion criteria aspartylglucosaminuria ⚠
- p.Arg265Pro No assertion criteria aspartylglucosaminuria ⚠
- p.Arg278Lys No assertion criteria aspartylglucosaminuria ⚠
- p.Cys345= No assertion criteria aspartylglucosaminuria
- p.Gly103= No assertion criteria aspartylglucosaminuria
- p.Gly103del No assertion criteria aspartylglucosaminuria
- p.Gly203Ala No assertion criteria aspartylglucosaminuria ⚠
- p.Gly203Val No assertion criteria aspartylglucosaminuria ⚠
- p.Ile112Val No assertion criteria aspartylglucosaminuria ⚠
- p.Ile290Met No assertion criteria aspartylglucosaminuria ⚠
- p.Leu159Pro No assertion criteria aspartylglucosaminuria ⚠
- p.Phe75Ser No assertion criteria aspartylglucosaminuria ⚠
- p.Pro241His No assertion criteria aspartylglucosaminuria ⚠
- p.Pro298Ala No assertion criteria aspartylglucosaminuria ⚠
- p.Ser25Arg No assertion criteria aspartylglucosaminuria ⚠