ALDOB — 565 ClinVar variants
All ClinVar germline ALDOB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →
38 Pathogenic · 28 Pathogenic/Likely pathogenic · 68 Likely pathogenic · 27 Conflicting · 21 Benign · 5 Benign/Likely benign · 222 Likely benign · 156 Uncertain significance
Full ALDOB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 133
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.
-
ALDOB p.Ala170Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ALDOB p.Arg304Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ALDOB p.Asp156Asn
Conflicting
Single submitter
hereditary fructose intolerance
Predictors lean, ClinVar uncertain 84
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ALDOB p.Ala114Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDOB p.Ala175Thr
Uncertain significance
Multiple submitters
hereditary fructose intolerance
-
ALDOB p.Arg149Cys
Uncertain significance
Multiple submitters
hereditary fructose intolerance
-
ALDOB p.Arg331Trp
Uncertain significance
Multiple submitters
hereditary fructose intolerance
-
ALDOB p.Arg43Cys
Uncertain significance
Multiple submitters
hereditary fructose intolerance
-
ALDOB p.Arg43His
Uncertain significance
Multiple submitters
hereditary fructose intolerance
-
ALDOB p.Arg56Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDOB p.Arg60Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDOB p.Gly112Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDOB p.Gly118Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDOB p.Gly76Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDOB p.His197Arg
Uncertain significance
Multiple submitters
hereditary fructose intolerance
-
ALDOB p.Leu162Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDOB p.Pro115Leu
Uncertain significance
Multiple submitters
hereditary fructose intolerance
-
ALDOB p.Trp148Arg
Uncertain significance
Multiple submitters
hereditary fructose intolerance
-
ALDOB p.Val254Ile
Uncertain significance
Multiple submitters
ALDOB-related disorder
-
ALDOB p.Ala312Thr
Uncertain significance
Single submitter
hereditary fructose intolerance
- ALDOB p.Ala318Ser Uncertain significance Single submitter
-
ALDOB p.Ala32Pro
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Ala7Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- ALDOB p.Arg304Pro Uncertain significance Single submitter
-
ALDOB p.Arg304Trp
Uncertain significance
Single submitter
hereditary fructose intolerance
- ALDOB p.Arg43Leu Uncertain significance Single submitter
-
ALDOB p.Arg46Lys
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Arg56His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Arg56Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Arg57Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Asn232Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Asn26Tyr
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Asn71Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Cys158Ser
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Cys158Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ALDOB p.Cys240Arg Uncertain significance Single submitter
-
ALDOB p.Cys269Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Glu82Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Gly267Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Gly27Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Gly29Arg
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Gly316Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Gly75Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Gly75Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Gly76Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.His3Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Ile177Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Ile186Thr
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Leu152Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Leu271Phe
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Leu284Pro
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Leu84Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Met233Lys
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Met329Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Phe94Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ALDOB p.Pro159Leu Uncertain significance Single submitter
-
ALDOB p.Pro193Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Pro193Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Ser22Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Ser272Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Ser276Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Thr227Asn
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Thr324Ile
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Thr9Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Tyr343Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Tyr343His
Uncertain significance
Single submitter
hereditary fructose intolerance
- ALDOB p.Val143Ala Uncertain significance Single submitter
- ALDOB p.Val184Ala Uncertain significance Single submitter
-
ALDOB p.Val187Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Val213Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Val249Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Val265Ala
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Ala25Thr
Uncertain significance
No assertion criteria
hereditary fructose intolerance
-
ALDOB p.Arg149His
Uncertain significance
No assertion criteria
ALDOB-related disorder
-
ALDOB p.Arg173Ser
Uncertain significance
No assertion criteria
hereditary fructose intolerance
-
ALDOB p.Arg57Trp
Uncertain significance
No assertion criteria
ALDOB-related disorder
-
ALDOB p.Asp129Tyr
Uncertain significance
No assertion criteria
hereditary fructose intolerance
-
ALDOB p.Glu11Asp
Uncertain significance
No assertion criteria
ALDOB-related disorder
-
ALDOB p.Gly146Arg
Uncertain significance
No assertion criteria
hereditary fructose intolerance
-
ALDOB p.Gly195Arg
Uncertain significance
No assertion criteria
hereditary fructose intolerance
-
ALDOB p.His345Tyr
Uncertain significance
No assertion criteria
ALDOB-related disorder
-
ALDOB p.Leu224Pro
Uncertain significance
No assertion criteria
ALDOB-related disorder
-
ALDOB p.Lys108Gln
Uncertain significance
No assertion criteria
hereditary fructose intolerance
-
ALDOB p.Lys48Asn
Uncertain significance
No assertion criteria
hereditary fructose intolerance
-
ALDOB p.Met251Thr
Uncertain significance
No assertion criteria
hereditary fructose intolerance
-
ALDOB p.Tyr174Ser
Uncertain significance
No assertion criteria
hereditary fructose intolerance
-
ALDOB p.Tyr214His
Uncertain significance
No assertion criteria
hereditary fructose intolerance
Predictors split 46
The independent predictors disagree with each other — read with care.
- ALDOB p.Ala163Thr Uncertain significance Multiple submitters
-
ALDOB p.Ala256Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDOB p.Ala319Val
Uncertain significance
Multiple submitters
hereditary fructose intolerance
-
ALDOB p.Arg134His
Uncertain significance
Multiple submitters
hereditary fructose intolerance
-
ALDOB p.Arg173Cys
Uncertain significance
Multiple submitters
hereditary fructose intolerance
-
ALDOB p.Arg331Gln
Uncertain significance
Multiple submitters
hereditary fructose intolerance
-
ALDOB p.Arg46Trp
Uncertain significance
Multiple submitters
ALDOB-related disorder
-
ALDOB p.Asn283Ser
Uncertain significance
Multiple submitters
hereditary fructose intolerance
-
ALDOB p.Asn285His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDOB p.Glu207Gln
Benign/Likely benign
Multiple submitters
hereditary fructose intolerance
-
ALDOB p.Ile177Leu
Uncertain significance
Multiple submitters
hereditary fructose intolerance
-
ALDOB p.Ile186Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDOB p.Leu116Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDOB p.Ala163Val
Conflicting
Single submitter
hereditary fructose intolerance
-
ALDOB p.Ala211Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Ala25Val
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Ala2Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Ala308Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Ala310Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ALDOB p.Arg173His Uncertain significance Single submitter
-
ALDOB p.Asn169Asp
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Asn181Lys
Conflicting
Single submitter
hereditary fructose intolerance
-
ALDOB p.Asp88Glu
Conflicting
Single submitter
hereditary fructose intolerance
-
ALDOB p.Gln180Lys
Conflicting
Single submitter
hereditary fructose intolerance
-
ALDOB p.Glu166Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ALDOB p.Glu200Gly Uncertain significance Single submitter
-
ALDOB p.Gly130Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Gly41Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Gly76Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Ile177Val
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Lys13Gln
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Lys140Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Lys99Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Pro291Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Ser356Leu
Uncertain significance
Single submitter
hereditary fructose intolerance
-
ALDOB p.Ser69Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOB p.Thr245Ala
Uncertain significance
Single submitter
hereditary fructose intolerance
- ALDOB p.Thr346Met Uncertain significance Single submitter
-
ALDOB p.Val344Ile
Likely benign
Single submitter
Inborn genetic diseases
-
ALDOB p.Ala264Val
Uncertain significance
No assertion criteria
hereditary fructose intolerance
-
ALDOB p.Gln203Lys
Uncertain significance
No assertion criteria
hereditary fructose intolerance
-
ALDOB p.Gly38Ser
Uncertain significance
No assertion criteria
hereditary fructose intolerance
-
ALDOB p.Ile74Thr
Conflicting
No assertion criteria
hereditary fructose intolerance
-
ALDOB p.Leu63Phe
Uncertain significance
No assertion criteria
hereditary fructose intolerance
-
ALDOB p.Lys242Asn
Uncertain significance
No assertion criteria
hereditary fructose intolerance
-
ALDOB p.Ser299Gly
Uncertain significance
No assertion criteria
hereditary fructose intolerance
All ALDOB variants
Pathogenic 38
- c.324+1G>A Multiple submitters hereditary fructose intolerance
- c.324+2T>A Multiple submitters hereditary fructose intolerance
- p.Ala175Asp Multiple submitters Inborn genetic diseases
- p.Arg60Ter Multiple submitters Inborn genetic diseases
- p.Asn335Lys Multiple submitters disorder of glycogen metabolism
- p.Gln111Ter Multiple submitters hereditary fructose intolerance
- p.Gln203Ter Multiple submitters hereditary fructose intolerance
- p.Leu257Pro Multiple submitters hereditary fructose intolerance
- p.Leu289fs Multiple submitters hereditary fructose intolerance
- p.Thr255fs Multiple submitters hereditary fructose intolerance
- p.Trp148Ter Multiple submitters hereditary fructose intolerance
- p.Trp296Ter Multiple submitters hereditary fructose intolerance
- p.Tyr174Ter Multiple submitters hereditary fructose intolerance
- p.Tyr204Ter Multiple submitters hereditary fructose intolerance
- p.Tyr85Ter Multiple submitters Inborn genetic diseases
- c.324+1del Single submitter hereditary fructose intolerance
- c.325-1G>A Single submitter hereditary fructose intolerance
- c.325-1G>T Single submitter hereditary fructose intolerance
- c.799+2T>A Single submitter hereditary fructose intolerance
- c.999+2T>C Single submitter hereditary fructose intolerance
- p.Arg46fs Single submitter hereditary fructose intolerance
- p.Asn120fs Single submitter hereditary fructose intolerance
- p.Gln12Ter Single submitter hereditary fructose intolerance
- p.Gln180fs Single submitter hereditary fructose intolerance
- p.Gln180Ter Single submitter hereditary fructose intolerance
- p.Glu53fs Single submitter hereditary fructose intolerance
- p.Gly91Ter Single submitter hereditary fructose intolerance
- p.Leu271Ser Single submitter hereditary fructose intolerance
- p.Leu298fs Single submitter hereditary fructose intolerance
- p.Leu79fs Single submitter hereditary fructose intolerance
- p.Thr281fs Single submitter hereditary fructose intolerance
- p.Tyr138Ter Single submitter hereditary fructose intolerance
- p.Tyr214Ter Single submitter hereditary fructose intolerance
- p.Val143fs Single submitter hereditary fructose intolerance
- p.Val77fs Single submitter hereditary fructose intolerance
- p.Cys135Arg No assertion criteria hereditary fructose intolerance
- p.Leu183_Val184del No assertion criteria hereditary fructose intolerance
- p.Leu289del No assertion criteria hereditary fructose intolerance
Pathogenic/Likely pathogenic 28
- c.1000-1_1006delinsTG Multiple submitters hereditary fructose intolerance
- c.113-1_115del Multiple submitters hereditary fructose intolerance
- c.113-1G>C Multiple submitters hereditary fructose intolerance
- c.379+1G>A Multiple submitters hereditary fructose intolerance
- c.379+1G>T Multiple submitters hereditary fructose intolerance
- c.380-1G>A Multiple submitters hereditary fructose intolerance
- c.380-2A>G Multiple submitters hereditary fructose intolerance
- c.625-2A>G Multiple submitters hereditary fructose intolerance
- c.799+1G>A Multiple submitters hereditary fructose intolerance
- c.-11+1G>C Multiple submitters hereditary fructose intolerance
- p.Ala150Pro Multiple submitters Inborn genetic diseases
- p.Ala338Val Multiple submitters hereditary fructose intolerance
- p.Arg4Ter Multiple submitters hereditary fructose intolerance
- p.Asp141fs Multiple submitters hereditary fructose intolerance
- p.Gln157Ter Multiple submitters hereditary fructose intolerance
- p.Gln21Ter Multiple submitters hereditary fructose intolerance
- p.Gln248Ter Multiple submitters hereditary fructose intolerance
- p.Glu15fs Multiple submitters hereditary fructose intolerance
- p.Glu225fs Multiple submitters hereditary fructose intolerance
- p.Glu322Ter Multiple submitters hereditary fructose intolerance
- p.Leu84fs Multiple submitters hereditary fructose intolerance
- p.Lys101fs Multiple submitters hereditary fructose intolerance
- p.Lys108= Multiple submitters hereditary fructose intolerance
- p.Lys317fs Multiple submitters hereditary fructose intolerance
- p.Met1Thr Multiple submitters hereditary fructose intolerance
- p.Val222Phe Multiple submitters hereditary fructose intolerance
- c.625-1G>A No assertion criteria hereditary fructose intolerance
- p.Cys240Ter No assertion criteria hereditary fructose intolerance
Likely pathogenic 68
- c.541-277_651del Multiple submitters hereditary fructose intolerance
- c.799+2T>C Multiple submitters hereditary fructose intolerance
- c.800-2A>C Multiple submitters hereditary fructose intolerance
- p.Gln72Ter Multiple submitters hereditary fructose intolerance
- p.Met1Val Multiple submitters hereditary fructose intolerance
- c.1000-1G>A Single submitter disorder of glycogen metabolism
- c.113-1G>A Single submitter hereditary fructose intolerance
- c.113-2A>G Single submitter hereditary fructose intolerance
- c.540+1del Single submitter hereditary fructose intolerance
- c.541-277_651delinsATGGGTT Single submitter hereditary fructose intolerance
- c.541-2A>G Single submitter hereditary fructose intolerance
- c.624+1G>A Single submitter hereditary fructose intolerance
- c.624+1G>C Single submitter hereditary fructose intolerance
- c.800-2A>G Single submitter hereditary fructose intolerance
- p.Ala305Val Single submitter
- p.Arg153fs Single submitter hereditary fructose intolerance
- p.Asn232fs Single submitter hereditary fructose intolerance
- p.Cys135Ter Single submitter hereditary fructose intolerance
- p.Cys158Ter Single submitter hereditary fructose intolerance
- p.Cys202Ter Single submitter hereditary fructose intolerance
- p.Cys336fs Single submitter hereditary fructose intolerance
- p.Gln248fs Single submitter hereditary fructose intolerance
- p.Gln45Ter Single submitter hereditary fructose intolerance
- p.Gln58Ter Single submitter hereditary fructose intolerance
- p.Glu122fs Single submitter hereditary fructose intolerance
- p.Glu50Ter Single submitter hereditary fructose intolerance
- p.Glu53Ter Single submitter hereditary fructose intolerance
- p.Gly76fs Single submitter hereditary fructose intolerance
- p.Gly76Val Single submitter hereditary fructose intolerance
- p.Ile177fs Single submitter hereditary fructose intolerance
- p.Leu131fs Single submitter hereditary fructose intolerance
- p.Leu229Pro Single submitter hereditary fructose intolerance
- p.Leu8fs Single submitter hereditary fructose intolerance
- p.Lys108Ter Single submitter hereditary fructose intolerance
- p.Lys147Ter Single submitter hereditary fructose intolerance
- p.Lys242Ter Single submitter hereditary fructose intolerance
- p.Met1Arg Single submitter hereditary fructose intolerance
- p.Met1Leu Single submitter hereditary fructose intolerance
- p.Thr123fs Single submitter hereditary fructose intolerance
- p.Tyr244Ter Single submitter hereditary fructose intolerance
- p.Val66fs Single submitter hereditary fructose intolerance
- c.1_624del No assertion criteria hereditary fructose intolerance
- c.112+1del No assertion criteria hereditary fructose intolerance
- c.112+1G>A No assertion criteria hereditary fructose intolerance
- c.325-1G>C No assertion criteria hereditary fructose intolerance
- c.540+1G>C No assertion criteria hereditary fructose intolerance
- c.541-153_800-175del No assertion criteria hereditary fructose intolerance
- c.-10_624del No assertion criteria hereditary fructose intolerance
- c.*516T>A No assertion criteria hereditary fructose intolerance
- p.Ala280Asp No assertion criteria hereditary fructose intolerance
- p.Ala319_Ala332del No assertion criteria hereditary fructose intolerance
- p.Arg57Pro No assertion criteria hereditary fructose intolerance
- p.Asn96fs No assertion criteria hereditary fructose intolerance
- p.Cys178Arg No assertion criteria hereditary fructose intolerance
- p.Gln21fs No assertion criteria hereditary fructose intolerance
- p.Gly226Asp No assertion criteria hereditary fructose intolerance
- p.His238fs No assertion criteria hereditary fructose intolerance
- p.Leu116fs No assertion criteria hereditary fructose intolerance
- p.Leu183fs No assertion criteria hereditary fructose intolerance
- p.Leu229_Lys230insMetLeu No assertion criteria hereditary fructose intolerance
- p.Leu271fs No assertion criteria hereditary fructose intolerance
- p.Leu311Pro No assertion criteria hereditary fructose intolerance
- p.Lys230fs No assertion criteria hereditary fructose intolerance
- p.Pro185Arg No assertion criteria hereditary fructose intolerance
- p.Ser349fs No assertion criteria hereditary fructose intolerance
- p.Trp314fs No assertion criteria hereditary fructose intolerance
- p.Trp314Ter No assertion criteria hereditary fructose intolerance
- p.Val49fs No assertion criteria hereditary fructose intolerance
Conflicting classifications of pathogenicity 27
- c.1000-3T>C Single submitter
- c.799+6G>A Single submitter hereditary fructose intolerance
- c.-214G>A Single submitter hereditary fructose intolerance
- c.*12C>T Single submitter hereditary fructose intolerance
- p.Ala163= Single submitter hereditary fructose intolerance
- p.Ala163Val Single submitter hereditary fructose intolerance ⚠
- p.Ala170Thr Single submitter Inborn genetic diseases ⚠
- p.Ala318= Single submitter hereditary fructose intolerance
- p.Ala338= Single submitter hereditary fructose intolerance
- p.Arg304Gln Single submitter Inborn genetic diseases ⚠
- p.Arg60= Single submitter hereditary fructose intolerance
- p.Asn181Lys Single submitter hereditary fructose intolerance ⚠
- p.Asn283= Single submitter hereditary fructose intolerance
- p.Asp156Asn Single submitter hereditary fructose intolerance ⚠
- p.Asp194= Single submitter hereditary fructose intolerance
- p.Asp88Glu Single submitter hereditary fructose intolerance ⚠
- p.Gln180Lys Single submitter hereditary fructose intolerance ⚠
- p.Gln90= Single submitter hereditary fructose intolerance
- p.His81= Single submitter hereditary fructose intolerance
- p.Ile103= Single submitter hereditary fructose intolerance
- p.Leu162= Single submitter hereditary fructose intolerance
- p.Phe94= Single submitter hereditary fructose intolerance
- p.Ter365Tyr Single submitter ALDOB-related disorder
- p.Thr227= Single submitter hereditary fructose intolerance
- p.Thr253= Single submitter hereditary fructose intolerance
- p.Tyr302= Single submitter hereditary fructose intolerance
- p.Ile74Thr No assertion criteria hereditary fructose intolerance ⚠
Benign 21
- c.324+8C>G Multiple submitters hereditary fructose intolerance
- c.540+84A>C Multiple submitters hereditary fructose intolerance
- c.800-76T>C Multiple submitters hereditary fructose intolerance
- c.999+84T>C Multiple submitters
- c.-10-209A>G Multiple submitters hereditary fructose intolerance
- c.-1C>T Multiple submitters hereditary fructose intolerance
- c.-211T>A Multiple submitters
- c.*1003A>G Multiple submitters hereditary fructose intolerance
- c.*1151A>G Multiple submitters hereditary fructose intolerance
- c.*122G>A Multiple submitters hereditary fructose intolerance
- c.*206C>A Multiple submitters hereditary fructose intolerance
- c.*505C>A Multiple submitters hereditary fructose intolerance
- c.*552T>A Multiple submitters hereditary fructose intolerance
- c.*612A>G Multiple submitters hereditary fructose intolerance
- c.*69C>T Multiple submitters hereditary fructose intolerance
- c.*897G>A Multiple submitters hereditary fructose intolerance
- p.Arg134Ser Multiple submitters hereditary fructose intolerance
- c.112+206A>G Single submitter
- c.999+105G>A Single submitter
- c.-11+214G>A Single submitter
- c.*189C>T Single submitter hereditary fructose intolerance
Benign/Likely benign 5
- c.325-19T>G Multiple submitters hereditary fructose intolerance
- c.799+11C>T Multiple submitters hereditary fructose intolerance
- c.799+28A>G Multiple submitters
- p.Glu207Gln Multiple submitters hereditary fructose intolerance ⚠
- p.Thr52= Multiple submitters hereditary fructose intolerance
Likely benign 222
- c.1000-17T>C Multiple submitters hereditary fructose intolerance
- c.325-18A>C Multiple submitters hereditary fructose intolerance
- c.540+36G>A Multiple submitters
- c.-10-17C>T Multiple submitters
- c.*152A>G Multiple submitters hereditary fructose intolerance
- p.Ala175= Multiple submitters hereditary fructose intolerance
- p.Asn167= Multiple submitters hereditary fructose intolerance
- p.Glu322= Multiple submitters hereditary fructose intolerance
- p.Tyr174= Multiple submitters hereditary fructose intolerance
- c.1000-12T>C Single submitter hereditary fructose intolerance
- c.1000-13A>G Single submitter hereditary fructose intolerance
- c.1000-14T>C Single submitter hereditary fructose intolerance
- c.1000-20C>G Single submitter hereditary fructose intolerance
- c.1000-6T>C Single submitter hereditary fructose intolerance
- c.112+10A>G Single submitter hereditary fructose intolerance
- c.112+12A>G Single submitter hereditary fructose intolerance
- c.112+17G>A Single submitter hereditary fructose intolerance
- c.112+17G>T Single submitter hereditary fructose intolerance
- c.112+20T>A Single submitter hereditary fructose intolerance
- c.112+7G>A Single submitter hereditary fructose intolerance
- c.112+8T>G Single submitter hereditary fructose intolerance
- c.112+9A>G Single submitter hereditary fructose intolerance
- c.113-10C>T Single submitter hereditary fructose intolerance
- c.113-13C>T Single submitter hereditary fructose intolerance
- c.113-14C>A Single submitter hereditary fructose intolerance
- c.113-17T>C Single submitter hereditary fructose intolerance
- c.113-4A>G Single submitter hereditary fructose intolerance
- c.113-7A>G Single submitter hereditary fructose intolerance
- c.113-8C>A Single submitter hereditary fructose intolerance
- c.113-9C>T Single submitter hereditary fructose intolerance
- c.324+13del Single submitter hereditary fructose intolerance
- c.324+16C>T Single submitter hereditary fructose intolerance
- c.324+18C>G Single submitter hereditary fructose intolerance
- c.324+20C>G Single submitter hereditary fructose intolerance
- c.324+7A>C Single submitter hereditary fructose intolerance
- c.324+9C>G Single submitter hereditary fructose intolerance
- c.324+9C>T Single submitter hereditary fructose intolerance
- c.325-15T>C Single submitter hereditary fructose intolerance
- c.325-9T>C Single submitter hereditary fructose intolerance
- c.379+12G>T Single submitter hereditary fructose intolerance
- c.379+14C>G Single submitter hereditary fructose intolerance
- c.379+14C>T Single submitter hereditary fructose intolerance
- c.379+18T>C Single submitter hereditary fructose intolerance
- c.379+9A>T Single submitter hereditary fructose intolerance
- c.380-12T>C Single submitter hereditary fructose intolerance
- c.380-17T>C Single submitter hereditary fructose intolerance
- c.380-19T>C Single submitter hereditary fructose intolerance
- c.380-4G>T Single submitter hereditary fructose intolerance
- c.380-5T>G Single submitter hereditary fructose intolerance
- c.380-9G>T Single submitter hereditary fructose intolerance
- c.540+11T>C Single submitter hereditary fructose intolerance
- c.540+15C>T Single submitter hereditary fructose intolerance
- c.540+16C>T Single submitter hereditary fructose intolerance
- c.540+19G>A Single submitter hereditary fructose intolerance
- c.540+9C>A Single submitter hereditary fructose intolerance
- c.541-5T>C Single submitter hereditary fructose intolerance
- c.624+12A>G Single submitter hereditary fructose intolerance
- c.624+19G>A Single submitter hereditary fructose intolerance
- c.624+20G>A Single submitter hereditary fructose intolerance
- c.624+20G>C Single submitter hereditary fructose intolerance
- c.624+9T>G Single submitter hereditary fructose intolerance
- c.625-10T>C Single submitter hereditary fructose intolerance
- c.625-15C>T Single submitter hereditary fructose intolerance
- c.625-20T>A Single submitter hereditary fructose intolerance
- c.625-9_625-7dup Single submitter hereditary fructose intolerance
- c.625-9G>T Single submitter hereditary fructose intolerance
- c.799+16T>C Single submitter hereditary fructose intolerance
- c.799+17T>C Single submitter hereditary fructose intolerance
- c.799+19T>A Single submitter hereditary fructose intolerance
- c.799+20C>G Single submitter hereditary fructose intolerance
- c.799+7C>T Single submitter hereditary fructose intolerance
- c.799+8CTT[3] Single submitter hereditary fructose intolerance
- c.800-10C>G Single submitter hereditary fructose intolerance
- c.800-10C>T Single submitter hereditary fructose intolerance
- c.800-11T>C Single submitter hereditary fructose intolerance
- c.800-12C>A Single submitter hereditary fructose intolerance
- c.800-12C>T Single submitter hereditary fructose intolerance
- c.800-13T>G Single submitter hereditary fructose intolerance
- c.800-15C>T Single submitter hereditary fructose intolerance
- c.800-16G>C Single submitter hereditary fructose intolerance
- c.800-5A>G Single submitter hereditary fructose intolerance
- c.800-6T>C Single submitter hereditary fructose intolerance
- c.800-7C>T Single submitter hereditary fructose intolerance
- c.800-8C>T Single submitter hereditary fructose intolerance
- c.999+10T>A Single submitter hereditary fructose intolerance
- c.999+10T>C Single submitter hereditary fructose intolerance
- c.999+12C>A Single submitter hereditary fructose intolerance
- c.999+12C>T Single submitter hereditary fructose intolerance
- c.999+14A>G Single submitter hereditary fructose intolerance
- c.999+18C>T Single submitter hereditary fructose intolerance
- c.*150del Single submitter
- c.*19C>T Single submitter
- c.*567C>T Single submitter hereditary fructose intolerance
- c.*752C>G Single submitter hereditary fructose intolerance
- c.*849T>C Single submitter hereditary fructose intolerance
- p.Ala117= Single submitter hereditary fructose intolerance
- p.Ala150= Single submitter hereditary fructose intolerance
- p.Ala155= Single submitter hereditary fructose intolerance
- p.Ala170= Single submitter hereditary fructose intolerance
- p.Ala2= Single submitter hereditary fructose intolerance
- p.Ala20= Single submitter hereditary fructose intolerance
- p.Ala236= Single submitter hereditary fructose intolerance
- p.Ala239= Single submitter hereditary fructose intolerance
- p.Ala250= Single submitter hereditary fructose intolerance
- p.Ala252= Single submitter hereditary fructose intolerance
- p.Ala280= Single submitter hereditary fructose intolerance
- p.Ala286= Single submitter hereditary fructose intolerance
- p.Ala305= Single submitter hereditary fructose intolerance
- p.Ala32= Single submitter hereditary fructose intolerance
- p.Ala33= Single submitter hereditary fructose intolerance
- p.Ala332= Single submitter hereditary fructose intolerance
- p.Arg134= Single submitter hereditary fructose intolerance
- p.Arg304= Single submitter hereditary fructose intolerance
- p.Arg331= Single submitter hereditary fructose intolerance
- p.Arg43= Single submitter hereditary fructose intolerance
- p.Arg56= Single submitter hereditary fructose intolerance
- p.Arg57= Single submitter hereditary fructose intolerance
- p.Arg95= Single submitter hereditary fructose intolerance
- p.Asn169= Single submitter hereditary fructose intolerance
- p.Asn218= Single submitter hereditary fructose intolerance
- p.Asn26= Single submitter hereditary fructose intolerance
- p.Asn285= Single submitter hereditary fructose intolerance
- p.Asn55= Single submitter hereditary fructose intolerance
- p.Asp141= Single submitter hereditary fructose intolerance
- p.Asp156= Single submitter hereditary fructose intolerance
- p.Asp198= Single submitter hereditary fructose intolerance
- p.Asp34= Single submitter hereditary fructose intolerance
- p.Asp67= Single submitter hereditary fructose intolerance
- p.Asp88= Single submitter hereditary fructose intolerance
- p.Cys158= Single submitter hereditary fructose intolerance
- p.Cys202= Single submitter hereditary fructose intolerance
- p.Cys290= Single submitter hereditary fructose intolerance
- p.Cys336= Single submitter hereditary fructose intolerance
- p.Gln179= Single submitter hereditary fructose intolerance
- p.Gln307= Single submitter hereditary fructose intolerance
- p.Gln337= Single submitter hereditary fructose intolerance
- p.Gln342= Single submitter hereditary fructose intolerance
- p.Gln355= Single submitter hereditary fructose intolerance
- p.Glu11= Single submitter hereditary fructose intolerance
- p.Glu133= Single submitter hereditary fructose intolerance
- p.Glu207= Single submitter hereditary fructose intolerance
- p.Glu225= Single submitter hereditary fructose intolerance
- p.Glu247= Single submitter hereditary fructose intolerance
- p.Glu35= Single submitter hereditary fructose intolerance
- p.Glu54= Single submitter hereditary fructose intolerance
- p.Gly106= Single submitter hereditary fructose intolerance
- p.Gly112= Single submitter hereditary fructose intolerance
- p.Gly142= Single submitter hereditary fructose intolerance
- p.Gly146= Single submitter hereditary fructose intolerance
- p.Gly182= Single submitter hereditary fructose intolerance
- p.Gly273= Single submitter hereditary fructose intolerance
- p.Gly29= Single submitter hereditary fructose intolerance
- p.Gly316= Single submitter hereditary fructose intolerance
- p.Gly38= Single submitter hereditary fructose intolerance
- p.Gly75= Single submitter hereditary fructose intolerance
- p.His197= Single submitter hereditary fructose intolerance
- p.His201= Single submitter hereditary fructose intolerance
- p.His258= Single submitter hereditary fructose intolerance
- p.His345= Single submitter hereditary fructose intolerance
- p.Ile154= Single submitter hereditary fructose intolerance
- p.Ile177= Single submitter hereditary fructose intolerance
- p.Ile62= Single submitter hereditary fructose intolerance
- p.Ile74= Single submitter hereditary fructose intolerance
- p.Leu171= Single submitter hereditary fructose intolerance
- p.Leu183= Single submitter hereditary fructose intolerance
- p.Leu199= Single submitter hereditary fructose intolerance
- p.Leu210= Single submitter hereditary fructose intolerance
- p.Leu229= Single submitter hereditary fructose intolerance
- p.Leu257= Single submitter hereditary fructose intolerance
- p.Leu271= Single submitter hereditary fructose intolerance
- p.Leu311= Single submitter hereditary fructose intolerance
- p.Leu357= Single submitter hereditary fructose intolerance
- p.Leu84= Single submitter hereditary fructose intolerance
- p.Leu93= Single submitter hereditary fructose intolerance
- p.Leu98= Single submitter hereditary fructose intolerance
- p.Lys147= Single submitter hereditary fructose intolerance
- p.Lys215= Single submitter hereditary fructose intolerance
- p.Lys230= Single submitter hereditary fructose intolerance
- p.Lys297= Single submitter hereditary fructose intolerance
- p.Lys48= Single submitter hereditary fructose intolerance
- p.Phe145= Single submitter hereditary fructose intolerance
- p.Pro159= Single submitter hereditary fructose intolerance
- p.Pro189= Single submitter hereditary fructose intolerance
- p.Pro246= Single submitter hereditary fructose intolerance
- p.Pro262= Single submitter hereditary fructose intolerance
- p.Pro291= Single submitter hereditary fructose intolerance
- p.Pro6= Single submitter hereditary fructose intolerance
- p.Ser132= Single submitter hereditary fructose intolerance
- p.Ser160= Single submitter hereditary fructose intolerance
- p.Ser17= Single submitter hereditary fructose intolerance
- p.Ser276= Single submitter hereditary fructose intolerance
- p.Ser309= Single submitter hereditary fructose intolerance
- p.Ser348= Single submitter hereditary fructose intolerance
- p.Ser349= Single submitter hereditary fructose intolerance
- p.Ser353= Single submitter hereditary fructose intolerance
- p.Ser356= Single submitter hereditary fructose intolerance
- p.Ser68= Single submitter hereditary fructose intolerance
- p.Ser69= Single submitter hereditary fructose intolerance
- p.Thr123= Single submitter hereditary fructose intolerance
- p.Thr124= Single submitter hereditary fructose intolerance
- p.Thr235= Single submitter hereditary fructose intolerance
- p.Thr241= Single submitter hereditary fructose intolerance
- p.Thr245= Single submitter hereditary fructose intolerance
- p.Thr260= Single submitter hereditary fructose intolerance
- p.Thr324= Single submitter hereditary fructose intolerance
- p.Thr346= Single submitter hereditary fructose intolerance
- p.Thr354= Single submitter hereditary fructose intolerance
- p.Thr363= Single submitter hereditary fructose intolerance
- p.Thr83= Single submitter hereditary fructose intolerance
- p.Thr9= Single submitter hereditary fructose intolerance
- p.Tyr223= Single submitter hereditary fructose intolerance
- p.Tyr244= Single submitter hereditary fructose intolerance
- p.Tyr85= Single submitter hereditary fructose intolerance
- p.Val104= Single submitter hereditary fructose intolerance
- p.Val105= Single submitter hereditary fructose intolerance
- p.Val209= Single submitter hereditary fructose intolerance
- p.Val24= Single submitter hereditary fructose intolerance
- p.Val254= Single submitter
- p.Val344Ile Single submitter Inborn genetic diseases ⚠
- p.Val49= Single submitter hereditary fructose intolerance
- p.Val77= Single submitter hereditary fructose intolerance
- c.*513G>A No assertion criteria ALDOB-related disorder
Uncertain significance 156
- p.Ala114Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala163Thr Multiple submitters ⚠
- p.Ala175Thr Multiple submitters hereditary fructose intolerance ⚠
- p.Ala256Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala319Val Multiple submitters hereditary fructose intolerance ⚠
- p.Arg134His Multiple submitters hereditary fructose intolerance ⚠
- p.Arg149Cys Multiple submitters hereditary fructose intolerance ⚠
- p.Arg173Cys Multiple submitters hereditary fructose intolerance ⚠
- p.Arg331Gln Multiple submitters hereditary fructose intolerance ⚠
- p.Arg331Trp Multiple submitters hereditary fructose intolerance ⚠
- p.Arg43Cys Multiple submitters hereditary fructose intolerance ⚠
- p.Arg43His Multiple submitters hereditary fructose intolerance ⚠
- p.Arg46Trp Multiple submitters ALDOB-related disorder ⚠
- p.Arg56Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg60Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn283Ser Multiple submitters hereditary fructose intolerance ⚠
- p.Asn285His Multiple submitters Inborn genetic diseases ⚠
- p.Gly112Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly118Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly76Ser Multiple submitters Inborn genetic diseases ⚠
- p.His197Arg Multiple submitters hereditary fructose intolerance ⚠
- p.Ile177Leu Multiple submitters hereditary fructose intolerance ⚠
- p.Ile186Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu116Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu162Pro Multiple submitters Inborn genetic diseases ⚠
- p.Pro115Leu Multiple submitters hereditary fructose intolerance ⚠
- p.Trp148Arg Multiple submitters hereditary fructose intolerance ⚠
- p.Val254Ile Multiple submitters ALDOB-related disorder ⚠
- c.112+5G>T Single submitter
- c.113-7A>C Single submitter hereditary fructose intolerance
- c.324+6C>T Single submitter
- c.799+5G>A Single submitter
- c.*1119C>T Single submitter hereditary fructose intolerance
- c.*145A>G Single submitter hereditary fructose intolerance
- c.*209C>T Single submitter hereditary fructose intolerance
- c.*268T>C Single submitter hereditary fructose intolerance
- c.*26C>T Single submitter hereditary fructose intolerance
- c.*286C>T Single submitter hereditary fructose intolerance
- c.*503T>C Single submitter hereditary fructose intolerance
- c.*568G>A Single submitter hereditary fructose intolerance
- c.*683T>C Single submitter hereditary fructose intolerance
- c.*714A>G Single submitter hereditary fructose intolerance
- c.*729G>C Single submitter hereditary fructose intolerance
- c.*802A>G Single submitter hereditary fructose intolerance
- c.*819A>C Single submitter hereditary fructose intolerance
- c.*898T>C Single submitter hereditary fructose intolerance
- p.Ala211Val Single submitter Inborn genetic diseases ⚠
- p.Ala25Val Single submitter hereditary fructose intolerance ⚠
- p.Ala2Val Single submitter Inborn genetic diseases ⚠
- p.Ala308Val Single submitter Inborn genetic diseases ⚠
- p.Ala310Thr Single submitter Inborn genetic diseases ⚠
- p.Ala312Thr Single submitter hereditary fructose intolerance ⚠
- p.Ala318Ser Single submitter ⚠
- p.Ala32Pro Single submitter hereditary fructose intolerance ⚠
- p.Ala7Asp Single submitter Inborn genetic diseases ⚠
- p.Arg173His Single submitter ⚠
- p.Arg304Pro Single submitter ⚠
- p.Arg304Trp Single submitter hereditary fructose intolerance ⚠
- p.Arg43Leu Single submitter ⚠
- p.Arg46Lys Single submitter hereditary fructose intolerance ⚠
- p.Arg56His Single submitter Inborn genetic diseases ⚠
- p.Arg56Leu Single submitter Inborn genetic diseases ⚠
- p.Arg57Leu Single submitter Inborn genetic diseases ⚠
- p.Asn169Asp Single submitter hereditary fructose intolerance ⚠
- p.Asn232Asp Single submitter Inborn genetic diseases ⚠
- p.Asn26Tyr Single submitter hereditary fructose intolerance ⚠
- p.Asn71Lys Single submitter Inborn genetic diseases ⚠
- p.Cys158Ser Single submitter hereditary fructose intolerance ⚠
- p.Cys158Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys240Arg Single submitter ⚠
- p.Cys269Tyr Single submitter Inborn genetic diseases ⚠
- p.Glu166Gln Single submitter Inborn genetic diseases ⚠
- p.Glu200Gly Single submitter ⚠
- p.Glu82Lys Single submitter Inborn genetic diseases ⚠
- p.Gly130Ala Single submitter Inborn genetic diseases ⚠
- p.Gly267Asp Single submitter Inborn genetic diseases ⚠
- p.Gly27Ala Single submitter Inborn genetic diseases ⚠
- p.Gly29Arg Single submitter hereditary fructose intolerance ⚠
- p.Gly316Val Single submitter Inborn genetic diseases ⚠
- p.Gly41Arg Single submitter Inborn genetic diseases ⚠
- p.Gly75Arg Single submitter Inborn genetic diseases ⚠
- p.Gly75Glu Single submitter Inborn genetic diseases ⚠
- p.Gly76Ala Single submitter Inborn genetic diseases ⚠
- p.Gly76Asp Single submitter Inborn genetic diseases ⚠
- p.His3Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile125= Single submitter hereditary fructose intolerance
- p.Ile177Asn Single submitter Inborn genetic diseases ⚠
- p.Ile177Val Single submitter hereditary fructose intolerance ⚠
- p.Ile186Thr Single submitter hereditary fructose intolerance ⚠
- p.Leu152Pro Single submitter Inborn genetic diseases ⚠
- p.Leu271Phe Single submitter hereditary fructose intolerance ⚠
- p.Leu284Pro Single submitter hereditary fructose intolerance ⚠
- p.Leu84Phe Single submitter Inborn genetic diseases ⚠
- p.Lys13Gln Single submitter hereditary fructose intolerance ⚠
- p.Lys140Asn Single submitter Inborn genetic diseases ⚠
- p.Lys99Glu Single submitter Inborn genetic diseases ⚠
- p.Met233Lys Single submitter hereditary fructose intolerance ⚠
- p.Met329Leu Single submitter Inborn genetic diseases ⚠
- p.Phe94Leu Single submitter Inborn genetic diseases ⚠
- p.Pro159Leu Single submitter ⚠
- p.Pro193Leu Single submitter Inborn genetic diseases ⚠
- p.Pro193Thr Single submitter Inborn genetic diseases ⚠
- p.Pro291Ser Single submitter Inborn genetic diseases ⚠
- p.Ser22Gly Single submitter Inborn genetic diseases ⚠
- p.Ser272Cys Single submitter Inborn genetic diseases ⚠
- p.Ser276Arg Single submitter Inborn genetic diseases ⚠
- p.Ser356Leu Single submitter hereditary fructose intolerance ⚠
- p.Ser69Phe Single submitter Inborn genetic diseases ⚠
- p.Thr227Asn Single submitter hereditary fructose intolerance ⚠
- p.Thr245Ala Single submitter hereditary fructose intolerance ⚠
- p.Thr324Ile Single submitter hereditary fructose intolerance ⚠
- p.Thr346Met Single submitter ⚠
- p.Thr9Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr343Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr343His Single submitter hereditary fructose intolerance ⚠
- p.Val104_Ile107dup Single submitter hereditary fructose intolerance
- p.Val143Ala Single submitter ⚠
- p.Val184Ala Single submitter ⚠
- p.Val187Ala Single submitter Inborn genetic diseases ⚠
- p.Val213Asp Single submitter Inborn genetic diseases ⚠
- p.Val249Ile Single submitter Inborn genetic diseases ⚠
- p.Val265Ala Single submitter hereditary fructose intolerance ⚠
- c.1000-10T>G No assertion criteria hereditary fructose intolerance
- c.112+3G>A No assertion criteria hereditary fructose intolerance
- c.112+5G>A No assertion criteria ALDOB-related disorder
- c.799+10T>C No assertion criteria hereditary fructose intolerance
- c.-2C>T No assertion criteria hereditary fructose intolerance
- c.-9_-8insA No assertion criteria hereditary fructose intolerance
- p.Ala25Thr No assertion criteria hereditary fructose intolerance ⚠
- p.Ala264Val No assertion criteria hereditary fructose intolerance ⚠
- p.Arg149His No assertion criteria ALDOB-related disorder ⚠
- p.Arg173Ser No assertion criteria hereditary fructose intolerance ⚠
- p.Arg57Trp No assertion criteria ALDOB-related disorder ⚠
- p.Asn335= No assertion criteria hereditary fructose intolerance
- p.Asp129Tyr No assertion criteria hereditary fructose intolerance ⚠
- p.Cys269del No assertion criteria hereditary fructose intolerance
- p.Gln203Lys No assertion criteria hereditary fructose intolerance ⚠
- p.Gln355Ter No assertion criteria hereditary fructose intolerance
- p.Glu11Asp No assertion criteria ALDOB-related disorder ⚠
- p.Gly146Arg No assertion criteria hereditary fructose intolerance ⚠
- p.Gly195Arg No assertion criteria hereditary fructose intolerance ⚠
- p.Gly226= No assertion criteria hereditary fructose intolerance
- p.Gly350= No assertion criteria hereditary fructose intolerance
- p.Gly38Ser No assertion criteria hereditary fructose intolerance ⚠
- p.His345Tyr No assertion criteria ALDOB-related disorder ⚠
- p.Ile107= No assertion criteria hereditary fructose intolerance
- p.Leu224Pro No assertion criteria ALDOB-related disorder ⚠
- p.Leu63Phe No assertion criteria hereditary fructose intolerance ⚠
- p.Lys108Gln No assertion criteria hereditary fructose intolerance ⚠
- p.Lys242Asn No assertion criteria hereditary fructose intolerance ⚠
- p.Lys48Asn No assertion criteria hereditary fructose intolerance ⚠
- p.Met251Thr No assertion criteria hereditary fructose intolerance ⚠
- p.Pro266= No assertion criteria hereditary fructose intolerance
- p.Ser299Gly No assertion criteria hereditary fructose intolerance ⚠
- p.Tyr174Ser No assertion criteria hereditary fructose intolerance ⚠
- p.Tyr214His No assertion criteria hereditary fructose intolerance ⚠