ALDOA — 187 ClinVar variants
All ClinVar germline ALDOA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →
2 Pathogenic · 4 Likely pathogenic · 5 Conflicting · 7 Benign · 3 Benign/Likely benign · 83 Likely benign · 83 Uncertain significance
Full ALDOA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 78
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 lean, ClinVar uncertain 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ALDOA p.Arg188His
Uncertain significance
Multiple submitters
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Arg227Cys
Uncertain significance
Multiple submitters
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Arg313Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDOA p.Arg97Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDOA p.Asn125Lys
Uncertain significance
Multiple submitters
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Gly157Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDOA p.His300Tyr
Uncertain significance
Multiple submitters
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Met287Ile
Uncertain significance
Multiple submitters
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Val167Met
Uncertain significance
Multiple submitters
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Ala197Asp
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
- ALDOA p.Ala304Thr Uncertain significance Single submitter
-
ALDOA p.Ala306Val
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Ala318Thr
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Ala403Gly
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Arg111Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOA p.Arg188Cys
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Arg227His
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
- ALDOA p.Arg358Gln Uncertain significance Single submitter
-
ALDOA p.Arg97Trp
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Asn125Ser
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Asn174Asp
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
- ALDOA p.Gln329His Uncertain significance Single submitter
-
ALDOA p.Glu409Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOA p.Gly156Cys
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Gly357Ser
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.His274Arg
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.His300Arg
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Ile128Thr
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Leu133Phe
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Lys269Asn
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Phe134Leu
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Phe199Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOA p.Pro126His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOA p.Pro239Ser
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Ser100Phe
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Ser299Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ALDOA p.Ser390Asn Uncertain significance Single submitter
-
ALDOA p.Ser400Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOA p.Ser71Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ALDOA p.Thr103Ile Uncertain significance Single submitter
-
ALDOA p.Thr178Ala
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Trp350Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOA p.Val205Leu
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Val241Leu
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Val241Met
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
Predictors split 33
The independent predictors disagree with each other — read with care.
-
ALDOA p.Arg76Cys
Uncertain significance
Multiple submitters
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Glu104Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALDOA p.Ile128Leu
Uncertain significance
Multiple submitters
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Lys68Glu
Uncertain significance
Multiple submitters
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Pro169Ser
Uncertain significance
Multiple submitters
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Thr309Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ALDOA p.Ala171Gly Uncertain significance Single submitter
-
ALDOA p.Ala171Thr
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Ala266Val
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Ala293Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOA p.Ala364Val
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
- ALDOA p.Arg123Cys Uncertain significance Single submitter
-
ALDOA p.Arg312His
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Arg76His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOA p.Asn223Ser
Conflicting
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Asp122Asn
Likely benign
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Glu108Gly
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Gly175Asp
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Gly401Ser
Conflicting
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Ile218Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOA p.Ile245Val
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Leu375Pro
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Lys384Arg
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Pro147Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOA p.Pro345Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOA p.Pro345Thr
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Pro399Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOA p.Pro60Leu
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Thr106Ile
Uncertain significance
Single submitter
glycogen storage disease due to aldolase A deficiency
-
ALDOA p.Thr314Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ALDOA p.Thr320Ile Uncertain significance Single submitter
-
ALDOA p.Thr398Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALDOA p.Val308Ile
Conflicting
Single submitter
glycogen storage disease due to aldolase A deficiency
All ALDOA variants
Pathogenic 2
- p.Arg358Ter Single submitter glycogen storage disease due to aldolase A deficiency
- p.Leu117fs Single submitter glycogen storage disease due to aldolase A deficiency
Likely pathogenic 4
- c.702+1G>A Single submitter glycogen storage disease due to aldolase A deficiency
- c.786+2T>C Single submitter glycogen storage disease due to aldolase A deficiency
- p.Ser9fs Single submitter glycogen storage disease due to aldolase A deficiency
- p.Thr119Ile Single submitter disorder of glycogen metabolism
Conflicting classifications of pathogenicity 5
- c.274+4C>T Single submitter glycogen storage disease due to aldolase A deficiency
- p.Asn223Ser Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Gly401Ser Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Leu411= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Val308Ile Single submitter glycogen storage disease due to aldolase A deficiency ⚠
Benign 7
- c.1161+17G>T Multiple submitters glycogen storage disease due to aldolase A deficiency
- c.487-115A>T Multiple submitters
- c.487-243T>C Multiple submitters
- c.541+42G>A Multiple submitters
- c.542-16C>A Multiple submitters glycogen storage disease due to aldolase A deficiency
- c.787-40C>T Multiple submitters
- c.487-143_487-138del Single submitter
Benign/Likely benign 3
Likely benign 83
- c.141+88G>A Multiple submitters
- c.275-8A>G Multiple submitters glycogen storage disease due to aldolase A deficiency
- c.787-20G>A Multiple submitters glycogen storage disease due to aldolase A deficiency
- c.961+12A>G Multiple submitters glycogen storage disease due to aldolase A deficiency
- c.961+55C>T Multiple submitters
- p.Ala197= Multiple submitters glycogen storage disease due to aldolase A deficiency
- p.Ala334= Multiple submitters glycogen storage disease due to aldolase A deficiency
- p.Asp195= Multiple submitters glycogen storage disease due to aldolase A deficiency
- p.Gly157= Multiple submitters glycogen storage disease due to aldolase A deficiency
- p.Gly166= Multiple submitters glycogen storage disease due to aldolase A deficiency
- p.Ile322= Multiple submitters glycogen storage disease due to aldolase A deficiency
- p.Lys343= Multiple submitters glycogen storage disease due to aldolase A deficiency
- p.Thr103= Multiple submitters glycogen storage disease due to aldolase A deficiency
- c.1161+14G>T Single submitter glycogen storage disease due to aldolase A deficiency
- c.1161+8T>C Single submitter glycogen storage disease due to aldolase A deficiency
- c.1162-11T>C Single submitter glycogen storage disease due to aldolase A deficiency
- c.1162-14C>A Single submitter glycogen storage disease due to aldolase A deficiency
- c.1162-17C>T Single submitter glycogen storage disease due to aldolase A deficiency
- c.1162-18A>T Single submitter glycogen storage disease due to aldolase A deficiency
- c.274+29G>A Single submitter
- c.275-3del Single submitter glycogen storage disease due to aldolase A deficiency
- c.275-5C>T Single submitter glycogen storage disease due to aldolase A deficiency
- c.275-9C>T Single submitter glycogen storage disease due to aldolase A deficiency
- c.486+17C>T Single submitter glycogen storage disease due to aldolase A deficiency
- c.486+18G>A Single submitter glycogen storage disease due to aldolase A deficiency
- c.486+19G>A Single submitter glycogen storage disease due to aldolase A deficiency
- c.486+9A>C Single submitter glycogen storage disease due to aldolase A deficiency
- c.487-10A>G Single submitter glycogen storage disease due to aldolase A deficiency
- c.487-14C>T Single submitter glycogen storage disease due to aldolase A deficiency
- c.487-19G>A Single submitter glycogen storage disease due to aldolase A deficiency
- c.541+18C>G Single submitter glycogen storage disease due to aldolase A deficiency
- c.541+8C>T Single submitter glycogen storage disease due to aldolase A deficiency
- c.542-10C>T Single submitter glycogen storage disease due to aldolase A deficiency
- c.702+17T>C Single submitter glycogen storage disease due to aldolase A deficiency
- c.703-12C>T Single submitter glycogen storage disease due to aldolase A deficiency
- c.703-16dup Single submitter glycogen storage disease due to aldolase A deficiency
- c.703-7C>T Single submitter glycogen storage disease due to aldolase A deficiency
- c.786+11A>G Single submitter glycogen storage disease due to aldolase A deficiency
- c.787-16G>A Single submitter glycogen storage disease due to aldolase A deficiency
- c.787-19T>C Single submitter glycogen storage disease due to aldolase A deficiency
- c.787-51C>A Single submitter
- c.961+11C>T Single submitter
- c.961+13C>T Single submitter glycogen storage disease due to aldolase A deficiency
- c.961+15C>T Single submitter glycogen storage disease due to aldolase A deficiency
- c.962-14C>T Single submitter glycogen storage disease due to aldolase A deficiency
- c.962-63C>T Single submitter
- c.962-6C>T Single submitter glycogen storage disease due to aldolase A deficiency
- c.-108C>T Single submitter
- c.-22+11A>C Single submitter
- c.-22+15dup Single submitter
- c.-88T>G Single submitter
- p.Ala304= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Ala407= Single submitter
- p.Arg123= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Asp122Asn Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Glu244= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Gly175= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Gly184= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Gly196= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Gly321= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Gly328= Single submitter glycogen storage disease due to aldolase A deficiency
- p.His300= Single submitter glycogen storage disease due to aldolase A deficiency
- p.His75= Single submitter
- p.Ile132= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Ile240= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Ile276= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Leu116= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Leu216= Single submitter
- p.Leu360= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Lys141= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Lys194= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Pro149= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Pro243= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Pro349= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Pro399= Single submitter
- p.Pro64= Single submitter
- p.Ser154= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Ser390= Single submitter
- p.Thr307= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Tyr192= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Tyr268= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Val315= Single submitter glycogen storage disease due to aldolase A deficiency
- p.Ser10= No assertion criteria ALDOA-related disorder
Uncertain significance 83
- c.274+5G>A Multiple submitters glycogen storage disease due to aldolase A deficiency
- p.Arg188His Multiple submitters glycogen storage disease due to aldolase A deficiency ⚠
- p.Arg227Cys Multiple submitters glycogen storage disease due to aldolase A deficiency ⚠
- p.Arg313Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg76Cys Multiple submitters glycogen storage disease due to aldolase A deficiency ⚠
- p.Arg97Pro Multiple submitters Inborn genetic diseases ⚠
- p.Asn125Lys Multiple submitters glycogen storage disease due to aldolase A deficiency ⚠
- p.Glu104Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly157Ser Multiple submitters Inborn genetic diseases ⚠
- p.His300Tyr Multiple submitters glycogen storage disease due to aldolase A deficiency ⚠
- p.Ile128Leu Multiple submitters glycogen storage disease due to aldolase A deficiency ⚠
- p.Lys68Glu Multiple submitters glycogen storage disease due to aldolase A deficiency ⚠
- p.Met287Ile Multiple submitters glycogen storage disease due to aldolase A deficiency ⚠
- p.Pro169Ser Multiple submitters glycogen storage disease due to aldolase A deficiency ⚠
- p.Ser355del Multiple submitters
- p.Thr309Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val167Met Multiple submitters glycogen storage disease due to aldolase A deficiency ⚠
- c.1162-4T>C Single submitter
- c.274+3G>A Single submitter glycogen storage disease due to aldolase A deficiency
- c.275-9C>G Single submitter glycogen storage disease due to aldolase A deficiency
- c.703-24_703-21dup Single submitter
- p.Ala171Gly Single submitter ⚠
- p.Ala171Thr Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Ala197Asp Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Ala266Val Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Ala293Gly Single submitter Inborn genetic diseases ⚠
- p.Ala304Thr Single submitter ⚠
- p.Ala306Val Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Ala318Thr Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Ala364Val Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Ala403Gly Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Arg111Cys Single submitter Inborn genetic diseases ⚠
- p.Arg123Cys Single submitter ⚠
- p.Arg188Cys Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Arg227His Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Arg312His Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Arg358Gln Single submitter ⚠
- p.Arg76His Single submitter Inborn genetic diseases ⚠
- p.Arg97Trp Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Asn125Ser Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Asn174Asp Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Gln329His Single submitter ⚠
- p.Glu108Gly Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Glu409Asp Single submitter Inborn genetic diseases ⚠
- p.Gly156Cys Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Gly175Asp Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Gly357Ser Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.His274Arg Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.His300Arg Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.His33Gln Single submitter
- p.Ile128Thr Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Ile218Leu Single submitter Inborn genetic diseases ⚠
- p.Ile245Val Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Leu133Phe Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Leu375Pro Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Lys269Asn Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Lys372del Single submitter
- p.Lys384Arg Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Phe134Leu Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Phe199Val Single submitter Inborn genetic diseases ⚠
- p.Phe22Leu Single submitter ALDOA-related disorder
- p.Pro126His Single submitter Inborn genetic diseases ⚠
- p.Pro147Arg Single submitter Inborn genetic diseases ⚠
- p.Pro239Ser Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Pro345Ser Single submitter Inborn genetic diseases ⚠
- p.Pro345Thr Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Pro399Leu Single submitter Inborn genetic diseases ⚠
- p.Pro60Leu Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Ser100Phe Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Ser299Phe Single submitter Inborn genetic diseases ⚠
- p.Ser390Asn Single submitter ⚠
- p.Ser400Gly Single submitter Inborn genetic diseases ⚠
- p.Ser71Pro Single submitter Inborn genetic diseases ⚠
- p.Thr103Ile Single submitter ⚠
- p.Thr106Ile Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Thr178Ala Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Thr314Ala Single submitter Inborn genetic diseases ⚠
- p.Thr320Ile Single submitter ⚠
- p.Thr398Ala Single submitter Inborn genetic diseases ⚠
- p.Trp350Leu Single submitter Inborn genetic diseases ⚠
- p.Val205Leu Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Val241Leu Single submitter glycogen storage disease due to aldolase A deficiency ⚠
- p.Val241Met Single submitter glycogen storage disease due to aldolase A deficiency ⚠