D2HGDH — 437 ClinVar variants
All ClinVar germline D2HGDH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 163 flagged for review →
14 Pathogenic · 3 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 39 Conflicting · 37 Benign · 23 Benign/Likely benign · 118 Likely benign · 190 Uncertain significance
Full D2HGDH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 163
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 18
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
D2HGDH p.Ala347Thr
Conflicting
Single submitter
Inborn genetic diseases
-
D2HGDH p.Ala420Thr
Conflicting
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Ala474Val
Conflicting
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Arg152Leu
Conflicting
Single submitter
Inborn genetic diseases
-
D2HGDH p.Arg395Gln
Conflicting
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Arg395Trp
Conflicting
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Cys172Tyr
Conflicting
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Glu463Lys
Conflicting
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Gly16Cys
Conflicting
Single submitter
Inborn genetic diseases
-
D2HGDH p.His220Arg
Conflicting
Single submitter
Inborn genetic diseases
-
D2HGDH p.Ile340Val
Conflicting
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Pro189Leu
Conflicting
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Thr298Ile
Conflicting
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Val140Ile
Conflicting
Single submitter
Inborn genetic diseases
-
D2HGDH p.Val142Ile
Conflicting
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Val173Ile
Conflicting
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Val415Met
Conflicting
Single submitter
Inborn genetic diseases
-
D2HGDH p.Val485Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 91
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
D2HGDH p.Ala151Thr
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Ala278Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Ala446Val
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Ala466Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Arg184Gln
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Arg421His
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Arg4Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Arg94Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Arg97Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Gln86Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Glu183Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Gly233Ser
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Gly304Asp
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Gly423Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.His120Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- D2HGDH p.Ile200Met Uncertain significance Multiple submitters
-
D2HGDH p.Leu442Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Lys508Arg
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Pro27Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Ser149Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Ser63Cys
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Thr267Met
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Thr516Met
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Val399Met
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Ala170Val
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Ala20Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Ala392Val
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Ala448Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Ala494Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- D2HGDH p.Ala68Thr Uncertain significance Single submitter
-
D2HGDH p.Ala8Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Arg107Gln
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Arg152His
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Arg323His
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Arg33Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Arg55Pro
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Asn203Lys
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Asn89Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Asp185His
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Asp375Tyr
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
- D2HGDH p.Asp403Asn Uncertain significance Single submitter
- D2HGDH p.Cys299Tyr Uncertain significance Single submitter
-
D2HGDH p.Cys317Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Cys36Phe
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Gln332Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Gln376Arg
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Gln65Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Glu352Gln
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Glu387Val
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Gly130Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Gly19Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Gly201Arg
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Gly288Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Gly322Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Gly355Asp
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Gly436Val
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Gly477Ala
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Ile270Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Ile340Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Leu192Val
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
- D2HGDH p.Leu211Pro Uncertain significance Single submitter
-
D2HGDH p.Leu339Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Leu418Val
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Leu453Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Leu501Pro
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
- D2HGDH p.Leu517Met Uncertain significance Single submitter
-
D2HGDH p.Leu67Val
Uncertain significance
Single submitter
Inborn genetic diseases
- D2HGDH p.Lys300Arg Uncertain significance Single submitter
-
D2HGDH p.Lys64Glu
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Met372Val
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
- D2HGDH p.Met498Val Uncertain significance Single submitter
-
D2HGDH p.Pro330Leu
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Pro424Leu
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Pro43Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Pro451Ser
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Pro492Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Pro492Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Ser109Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Ser158Gly
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
- D2HGDH p.Ser258Leu Uncertain significance Single submitter
-
D2HGDH p.Ser405Phe
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
- D2HGDH p.Ser452Leu Uncertain significance Single submitter
-
D2HGDH p.Ser471Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Ser519Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Thr298Ser
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Tyr398Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- D2HGDH p.Tyr432Cys Uncertain significance Single submitter
-
D2HGDH p.Val229Met
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Val281Leu
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Val429Met
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
- D2HGDH p.Val472Ile Uncertain significance Single submitter
Predictors split 53
The independent predictors disagree with each other — read with care.
-
D2HGDH p.Arg107Trp
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Arg152Cys
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
- D2HGDH p.Arg184Trp Uncertain significance Multiple submitters
-
D2HGDH p.Arg212Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Arg421Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Asn443Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Asn512Ser
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Asp369Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Gly509Cys
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.His220Tyr
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Ile510Val
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Leu453Phe
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Lys502Arg
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Pro274Leu
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
- D2HGDH p.Pro46Leu Uncertain significance Multiple submitters
-
D2HGDH p.Pro88Leu
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Ser109Trp
Pathogenic/Likely pathogenic
Multiple submitters
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Thr247Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Thr445Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
D2HGDH p.Tyr400Cys
Uncertain significance
Multiple submitters
D-2-hydroxyglutaric aciduria 1
- D2HGDH p.Val281Met Uncertain significance Multiple submitters
-
D2HGDH p.Ala151Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Ala278Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Arg155Trp
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Arg179Trp
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
- D2HGDH p.Arg212Gln Uncertain significance Single submitter
-
D2HGDH p.Arg410Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Arg419Cys
Conflicting
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Arg419His
Conflicting
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Asn346Thr
Conflicting
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Asp81Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Gln499Glu
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Glu352Gly
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Glu359Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Gly288Arg
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Gly355Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Gly509Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Gly77Arg
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
- D2HGDH p.His118Arg Uncertain significance Single submitter
-
D2HGDH p.Leu325Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Leu418Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Leu440Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Phe357Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Pro276Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- D2HGDH p.Pro335Leu Uncertain significance Single submitter
-
D2HGDH p.Pro407Leu
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Pro492Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Pro518His
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Ser308Cys
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Thr108Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
D2HGDH p.Thr465Met
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Tyr249Cys
Uncertain significance
Single submitter
D-2-hydroxyglutaric aciduria 1
-
D2HGDH p.Val78Ile
Uncertain significance
Single submitter
Inborn genetic diseases
All D2HGDH variants
Pathogenic 14
- p.Tyr180Ter Multiple submitters Inborn genetic diseases
- c.1306+1del Single submitter D-2-hydroxyglutaric aciduria 1
- p.Arg215fs Single submitter D-2-hydroxyglutaric aciduria 1
- p.Asn132fs Single submitter D-2-hydroxyglutaric aciduria 1
- p.Glu110fs Single submitter D-2-hydroxyglutaric aciduria 1
- p.Phe296fs Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ser343fs Single submitter D-2-hydroxyglutaric aciduria
- p.Ser452fs Single submitter D-2-hydroxyglutaric aciduria 1
- p.Thr465fs Single submitter D-2-hydroxyglutaric aciduria 1
- p.Trp24Ter Single submitter D-2-hydroxyglutaric aciduria 1
- p.Val444Ala Single submitter D-2-hydroxyglutaric aciduria 1
- c.293-23A>G No assertion criteria D-2-hydroxyglutaric aciduria 1
- p.Asn439Asp No assertion criteria D-2-hydroxyglutaric aciduria 1
- p.Ile147Ser No assertion criteria D-2-hydroxyglutaric aciduria 1
Pathogenic/Likely pathogenic 3
- c.685-2A>G Multiple submitters D2HGDH-related disorders
- p.Gln169Ter Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Ser109Trp Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
Likely pathogenic 13
- c.1306+2T>C Single submitter D-2-hydroxyglutaric aciduria
- c.853+2T>C Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ala205Val Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ala474Glu Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ala474Thr Single submitter
- p.Asp250_Leu251insTer Single submitter D-2-hydroxyglutaric aciduria 1
- p.Cys272Arg Single submitter D-2-hydroxyglutaric aciduria 1
- p.Glu175Ter Single submitter D-2-hydroxyglutaric aciduria 1
- p.Leu457Pro Single submitter D-2-hydroxyglutaric aciduria 1
- p.Lys380Arg Single submitter ⚠
- p.Met153Val Single submitter D-2-hydroxyglutaric aciduria 1
- p.Thr133fs Single submitter
- p.Thr266Ile Single submitter
Conflicting classifications of pathogenicity 39
- c.1140+8G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.1141-12C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.1306+15G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.1306+7G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.854-7G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.854-8C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.-92-4C>G Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ala347Thr Single submitter Inborn genetic diseases ⚠
- p.Ala361= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ala420Thr Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Ala474Val Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Arg152Leu Single submitter Inborn genetic diseases ⚠
- p.Arg395Gln Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Arg395Trp Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Arg419= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Arg419Cys Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Arg419His Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Asn346Thr Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Cys172Tyr Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Glu463Lys Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Gly16Cys Single submitter Inborn genetic diseases ⚠
- p.His220Arg Single submitter Inborn genetic diseases ⚠
- p.Ile256= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ile340Val Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Leu505= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Lys482= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Pro189Leu Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Ser109= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ser471= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Thr108= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Thr298Ile Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Thr374= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Tyr180= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Val140Ile Single submitter Inborn genetic diseases ⚠
- p.Val142Ile Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Val173Ile Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Val321= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Val415Met Single submitter Inborn genetic diseases ⚠
- p.Val485Ile Single submitter Inborn genetic diseases ⚠
Benign 37
- c.1306+68T>C Multiple submitters
- c.1307-24A>G Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.293-18A>G Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.293-23A>T Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.293-73C>T Multiple submitters
- c.293-82A>G Multiple submitters
- c.490+40T>C Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.853+102G>C Multiple submitters
- c.854-1200C>T Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.-91C>G Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.-93+203A>C Multiple submitters
- c.*254G>A Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.*26C>T Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.*27C>T Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.*449C>T Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.*661C>T Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.*688G>A Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.*778C>T Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.*801A>G Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.*93T>C Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Pro459= Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.1140+218C>G Single submitter
- c.1307-169C>T Single submitter
- c.1307-205C>G Single submitter
- c.293-219G>A Single submitter
- c.350+19del Single submitter D-2-hydroxyglutaric aciduria 1
- c.491-193T>C Single submitter
- c.684+144T>C Single submitter
- c.685-132A>G Single submitter
- c.853+100_853+101dup Single submitter
- c.853+99_853+101dup Single submitter
- c.997+13del Single submitter D-2-hydroxyglutaric aciduria 1
- c.-92-196C>G Single submitter
- c.-92-197C>G Single submitter
- c.*266G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.*427G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.*433G>T Single submitter D-2-hydroxyglutaric aciduria 1
Benign/Likely benign 23
- c.1307-15C>T Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.1307-19T>C Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.490+16C>T Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.490+20C>T Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.491-18C>T Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.685-9T>C Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Ala361Val Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Ala426Thr Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Arg15Gly Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Arg55Gln Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Asp144= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Asp369= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Gly355Ser Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Gly436= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.His356Tyr Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Leu31= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Pro141= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Pro330= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Pro492= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Thr240= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Thr465= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Tyr462= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Val338Ile Multiple submitters D-2-hydroxyglutaric aciduria 1
Likely benign 118
- c.1306+10G>A Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.1306+14C>T Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.350+18G>A Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.490+9G>A Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.685-7C>T Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.997+18_997+19del Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.997+18A>G Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.*40C>T Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Ala466= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Arg26Trp Multiple submitters Inborn genetic diseases
- p.Asn203= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Asn280= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Asp66= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Glu463= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Gly397= Multiple submitters
- p.His434= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.His476= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Ile414= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Leu501= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Ser308= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Ser38= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Ser394= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Ser452= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Thr247= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Tyr337= Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Tyr402= Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.1140+19G>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.1141-14G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.1141-15C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.1141-62_1141-61insT Single submitter
- c.1306+11C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.1306+9C>T Single submitter
- c.293-13C>T Single submitter
- c.293-18A>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.293-19G>A Single submitter
- c.351-18C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.351-20C>G Single submitter D-2-hydroxyglutaric aciduria 1
- c.351-8C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.490+18G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.684+12C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.684+8G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.685-20G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.685-9_685-8inv Single submitter D-2-hydroxyglutaric aciduria 1
- c.854-19A>G Single submitter D-2-hydroxyglutaric aciduria 1
- c.997+10C>G Single submitter
- c.997+11C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.997+12C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.997+13C>G Single submitter D-2-hydroxyglutaric aciduria 1
- c.997+17C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.997+18A>C Single submitter D-2-hydroxyglutaric aciduria 1
- c.997+8C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.998-3T>C Single submitter
- c.998-7C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.*410G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.*474C>T Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ala125= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ala205= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ala231= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ala32Val Single submitter Inborn genetic diseases
- p.Ala384= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ala474= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ala68= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Arg152= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Arg179= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Arg277= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Arg481Lys Single submitter Inborn genetic diseases
- p.Arg56= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Asn207= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Asn346= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Asp232= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Asp350= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Asp413= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Asp417= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Asp484= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Cys119= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Cys172= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Cys37Ser Single submitter Inborn genetic diseases
- p.Glu291= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Gly19= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Gly225= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Gly263= Single submitter
- p.Gly29= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Gly467= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Gly76= Single submitter D-2-hydroxyglutaric aciduria 1
- p.His114= Single submitter
- p.His360= Single submitter D-2-hydroxyglutaric aciduria 1
- p.His425= Single submitter D-2-hydroxyglutaric aciduria 1
- p.His428= Single submitter D-2-hydroxyglutaric aciduria 1
- p.His441= Single submitter D-2-hydroxyglutaric aciduria 1
- p.His460= Single submitter
- p.Ile146= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ile200= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Leu13= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Leu157= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Leu293= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Leu404= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Leu422= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Leu511= Single submitter
- p.Phe159= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Phe310= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Phe357= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Pro189= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Pro424= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Pro46= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Pro513= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ser149= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ser161= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ser364= Single submitter
- p.Ser473= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ser60= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Thr298= Single submitter
- p.Thr516= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Tyr398= Single submitter
- p.Val140= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Val223= Single submitter D-2-hydroxyglutaric aciduria 1
- p.Val331= Single submitter
- p.Val461= Single submitter
- p.Glu305= No assertion criteria D2HGDH-related disorder
Uncertain significance 190
- c.685-8G>A Multiple submitters
- c.997+6G>A Multiple submitters D-2-hydroxyglutaric aciduria 1
- c.*51C>T Multiple submitters D-2-hydroxyglutaric aciduria 1
- p.Ala151Thr Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Ala278Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala446Val Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Ala466Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg107Trp Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Arg152Cys Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Arg184Gln Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Arg184Trp Multiple submitters ⚠
- p.Arg212Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg421Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg421His Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Arg4Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg94Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg97Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn443Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn512Ser Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Asp369Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gln86Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu183Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly233Ser Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Gly304Asp Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Gly423Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly509Cys Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.His120Gln Multiple submitters Inborn genetic diseases ⚠
- p.His220Tyr Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Ile200Met Multiple submitters ⚠
- p.Ile510Val Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Leu442Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu453Phe Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Lys502Arg Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Lys508Arg Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Pro274Leu Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Pro27Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro46Leu Multiple submitters ⚠
- p.Pro88Leu Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Ser149Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser63Cys Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Thr247Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr267Met Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Thr445Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr516Met Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Tyr400Cys Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- p.Val281Met Multiple submitters ⚠
- p.Val399Met Multiple submitters D-2-hydroxyglutaric aciduria 1 ⚠
- c.1306+6C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.350+10_350+12del Single submitter D-2-hydroxyglutaric aciduria 1
- c.490+5G>A Single submitter
- c.684+9G>C Single submitter D-2-hydroxyglutaric aciduria 1
- c.-102G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.-105G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.-132C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.-135C>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.-37C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.-45C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.-92-10C>A Single submitter
- c.*150C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.*171G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.*194G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.*253C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.*256G>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.*284C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.*298C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.*2G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.*321A>G Single submitter D-2-hydroxyglutaric aciduria 1
- c.*334C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.*405C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.*461C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.*462G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.*499G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.*503C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.*537G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.*542C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.*553G>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.*597C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.*633T>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.*669G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.*680G>C Single submitter D-2-hydroxyglutaric aciduria 1
- c.*687C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.*709G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.*713C>T Single submitter D-2-hydroxyglutaric aciduria 1
- c.*714G>A Single submitter D-2-hydroxyglutaric aciduria 1
- c.*717C>G Single submitter D-2-hydroxyglutaric aciduria 1
- c.*87C>T Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ala151Val Single submitter Inborn genetic diseases ⚠
- p.Ala170Val Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Ala20Gly Single submitter Inborn genetic diseases ⚠
- p.Ala278Val Single submitter Inborn genetic diseases ⚠
- p.Ala328_Ser329insGlyArgHisLeuHisLeuAla Single submitter D-2-hydroxyglutaric aciduria 1
- p.Ala392Val Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Ala448Gly Single submitter Inborn genetic diseases ⚠
- p.Ala494Ser Single submitter Inborn genetic diseases ⚠
- p.Ala68Thr Single submitter ⚠
- p.Ala8Pro Single submitter Inborn genetic diseases ⚠
- p.Arg107Gln Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Arg152His Single submitter Inborn genetic diseases ⚠
- p.Arg155Trp Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Arg179dup Single submitter
- p.Arg179Trp Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Arg212Gln Single submitter ⚠
- p.Arg323His Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Arg33Cys Single submitter Inborn genetic diseases ⚠
- p.Arg410Gln Single submitter Inborn genetic diseases ⚠
- p.Arg55Pro Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Asn203Lys Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Asn89Lys Single submitter Inborn genetic diseases ⚠
- p.Asp185His Single submitter Inborn genetic diseases ⚠
- p.Asp375Tyr Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Asp403Asn Single submitter ⚠
- p.Asp81Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys299Tyr Single submitter ⚠
- p.Cys317Ser Single submitter Inborn genetic diseases ⚠
- p.Cys36Phe Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Gln332Glu Single submitter Inborn genetic diseases ⚠
- p.Gln376Arg Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Gln496Ter Single submitter
- p.Gln499Glu Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Gln65Arg Single submitter Inborn genetic diseases ⚠
- p.Glu352Gln Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Glu352Gly Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Glu359Gln Single submitter Inborn genetic diseases ⚠
- p.Glu387Val Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Gly130Arg Single submitter Inborn genetic diseases ⚠
- p.Gly19Glu Single submitter Inborn genetic diseases ⚠
- p.Gly201Arg Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Gly288Ala Single submitter Inborn genetic diseases ⚠
- p.Gly288Arg Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Gly322Arg Single submitter Inborn genetic diseases ⚠
- p.Gly355Asp Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Gly355Val Single submitter Inborn genetic diseases ⚠
- p.Gly35Asn Single submitter D-2-hydroxyglutaric aciduria 1
- p.Gly436Val Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Gly477Ala Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Gly509Ser Single submitter Inborn genetic diseases ⚠
- p.Gly77Arg Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.His118Arg Single submitter ⚠
- p.Ile270Val Single submitter Inborn genetic diseases ⚠
- p.Ile340Leu Single submitter Inborn genetic diseases ⚠
- p.Leu192Val Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Leu211Pro Single submitter ⚠
- p.Leu307= Single submitter
- p.Leu325Val Single submitter Inborn genetic diseases ⚠
- p.Leu339Arg Single submitter Inborn genetic diseases ⚠
- p.Leu418Arg Single submitter Inborn genetic diseases ⚠
- p.Leu418Val Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Leu440Val Single submitter Inborn genetic diseases ⚠
- p.Leu453Ile Single submitter Inborn genetic diseases ⚠
- p.Leu501Pro Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Leu511fs Single submitter D-2-hydroxyglutaric aciduria 1
- p.Leu517Met Single submitter ⚠
- p.Leu67Val Single submitter Inborn genetic diseases ⚠
- p.Lys300Arg Single submitter ⚠
- p.Lys64Glu Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Met372Val Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Met498Val Single submitter ⚠
- p.Phe357Leu Single submitter Inborn genetic diseases ⚠
- p.Pro276Ser Single submitter Inborn genetic diseases ⚠
- p.Pro330Leu Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Pro335Leu Single submitter ⚠
- p.Pro407Leu Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Pro424Leu Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Pro43Leu Single submitter Inborn genetic diseases ⚠
- p.Pro451Ser Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Pro492Ala Single submitter Inborn genetic diseases ⚠
- p.Pro492Arg Single submitter Inborn genetic diseases ⚠
- p.Pro492Leu Single submitter Inborn genetic diseases ⚠
- p.Pro518His Single submitter Inborn genetic diseases ⚠
- p.Ser109Leu Single submitter Inborn genetic diseases ⚠
- p.Ser158Gly Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Ser258Leu Single submitter ⚠
- p.Ser308Cys Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Ser405Phe Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Ser452Leu Single submitter ⚠
- p.Ser471Asn Single submitter Inborn genetic diseases ⚠
- p.Ser519Thr Single submitter Inborn genetic diseases ⚠
- p.Thr108Met Single submitter Inborn genetic diseases ⚠
- p.Thr298Ser Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Thr465Met Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Thr516Arg Single submitter Inborn genetic diseases
- p.Tyr249Cys Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Tyr398Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr432Cys Single submitter ⚠
- p.Val229Met Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Val281Leu Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Val429Met Single submitter D-2-hydroxyglutaric aciduria 1 ⚠
- p.Val472Ile Single submitter ⚠
- p.Val472Phe Single submitter Inborn genetic diseases
- p.Val78Ile Single submitter Inborn genetic diseases ⚠