L2HGDH — 336 ClinVar variants
All ClinVar germline L2HGDH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 149 flagged for review →
25 Pathogenic · 7 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 18 Conflicting · 20 Benign · 12 Benign/Likely benign · 90 Likely benign · 152 Uncertain significance
Full L2HGDH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 149
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 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
L2HGDH p.Arg251Gln
Conflicting
Single submitter
Inborn genetic diseases
-
L2HGDH p.Arg277Gln
Conflicting
Single submitter
Inborn genetic diseases
-
L2HGDH p.Arg282Trp
Conflicting
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Gln459Arg
Conflicting
Single submitter
Inborn genetic diseases
-
L2HGDH p.Gly211Val
Conflicting
Single submitter
Inborn genetic diseases
-
L2HGDH p.Ile392Val
Conflicting
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Ile76Val
Conflicting
Single submitter
Inborn genetic diseases
-
L2HGDH p.Pro24Ser
Conflicting
Single submitter
Inborn genetic diseases
-
L2HGDH p.Pro3Leu
Conflicting
Single submitter
Inborn genetic diseases
-
L2HGDH p.Ser41Gly
Conflicting
Single submitter
Inborn genetic diseases
-
L2HGDH p.Thr393Ala
Conflicting
Single submitter
Inborn genetic diseases
-
L2HGDH p.Val54Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 113
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
L2HGDH p.Ala26Val
Uncertain significance
Multiple submitters
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Ala332Thr
Uncertain significance
Multiple submitters
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Arg282Gln
Uncertain significance
Multiple submitters
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Asp410Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
L2HGDH p.Gln458Lys
Uncertain significance
Multiple submitters
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Glu208Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
L2HGDH p.Glu268Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
L2HGDH p.Gly160Asp
Uncertain significance
Multiple submitters
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Gly424Glu
Uncertain significance
Multiple submitters
L-2-hydroxyglutaric aciduria
-
L2HGDH p.His92Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
L2HGDH p.Ile278Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
L2HGDH p.Met183Val
Uncertain significance
Multiple submitters
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Met349Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
L2HGDH p.Phe377Ser
Uncertain significance
Multiple submitters
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Phe49Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
L2HGDH p.Pro162Leu
Uncertain significance
Multiple submitters
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Pro177Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
L2HGDH p.Ser344Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
L2HGDH p.Ser41Asn
Uncertain significance
Multiple submitters
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Tyr178Phe
Uncertain significance
Multiple submitters
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Tyr238Cys
Uncertain significance
Multiple submitters
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Val279Ile
Uncertain significance
Multiple submitters
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Ala117Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Ala26Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Ala329Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Ala361Glu
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Ala423Thr
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Ala438Thr
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Ala4Gly
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Ala62Thr
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Ala64Pro
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Ala64Val
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Arg14Gln
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Arg196Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Arg196Pro
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Arg282Pro
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Arg307Gln
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Arg307Trp
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
- L2HGDH p.Arg335Gln Uncertain significance Single submitter
-
L2HGDH p.Arg405Gly
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Arg42Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Arg6Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Arg70Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Asn159Lys
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
- L2HGDH p.Asn216Asp Uncertain significance Single submitter
-
L2HGDH p.Asn299Asp
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Asn299Lys
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Asp234Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Asp264Glu
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Asp305Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Asp396Gly
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Asp396His
Uncertain significance
Single submitter
Inborn genetic diseases
- L2HGDH p.Asp455Val Uncertain significance Single submitter
-
L2HGDH p.Asp84Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Gln126Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Glu145Lys
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
- L2HGDH p.Glu154Gln Uncertain significance Single submitter
-
L2HGDH p.Glu268Val
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
- L2HGDH p.Gly116Asp Uncertain significance Single submitter
-
L2HGDH p.Gly181Ser
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Gly191Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Gly260Val
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Gly312Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Gly39Arg
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Gly400Asp
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Gly40Arg
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Gly40Ser
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Gly426Arg
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Gly56Asp
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Gly56Ser
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Gly91Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Gly95Asp
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.His434Asp
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.His434Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.His88Tyr
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.His92Arg
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Ile192Val
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Ile233Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Ile242Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Ile242Val
Uncertain significance
Single submitter
Inborn genetic diseases
- L2HGDH p.Ile353Thr Uncertain significance Single submitter
-
L2HGDH p.Ile392Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Ile394Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- L2HGDH p.Ile428Thr Uncertain significance Single submitter
-
L2HGDH p.Ile447Val
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Leu112Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Leu112Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Leu149Arg
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Leu261Phe
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Leu385Phe
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
- L2HGDH p.Lys127Arg Uncertain significance Single submitter
-
L2HGDH p.Phe308Val
Uncertain significance
Single submitter
Inborn genetic diseases
- L2HGDH p.Phe310Leu Uncertain significance Single submitter
-
L2HGDH p.Phe310Val
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Pro162Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Pro276Leu
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Pro276Ser
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Pro340Ser
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Pro36Thr
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Pro441Leu
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Ser228Asn
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Ser230Pro
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Ser23Tyr
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Thr190Ile
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Thr316Ile
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
- L2HGDH p.Thr381Ser Uncertain significance Single submitter
-
L2HGDH p.Tyr103Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- L2HGDH p.Tyr301Phe Uncertain significance Single submitter
-
L2HGDH p.Tyr7His
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Val219Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Val303Asp
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Val404Leu
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Val420Ile
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
Predictors split 24
The independent predictors disagree with each other — read with care.
-
L2HGDH p.Arg196Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
L2HGDH p.Arg265His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
L2HGDH p.Arg265Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
L2HGDH p.Glu336Lys
Uncertain significance
Multiple submitters
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Ile51Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
L2HGDH p.Tyr367Cys
Benign/Likely benign
Multiple submitters
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Tyr367His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
L2HGDH p.Val296Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
L2HGDH p.Ala448Pro
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Arg265Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Arg460Ile
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Asp171Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Asp342Asn
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Asp350Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Glu249Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Gly429Arg
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.His92Tyr
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Leu67Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
L2HGDH p.Pro317Thr
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Pro401Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- L2HGDH p.Ser395Ile Uncertain significance Single submitter
-
L2HGDH p.Tyr373Cys
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Val255Ala
Uncertain significance
Single submitter
L-2-hydroxyglutaric aciduria
-
L2HGDH p.Val96Ile
Uncertain significance
Single submitter
Inborn genetic diseases
All L2HGDH variants
Pathogenic 25
- p.Arg251Ter Multiple submitters L-2-hydroxyglutaric aciduria
- p.Arg277Ter Multiple submitters L2HGDH-related disorders
- p.Arg70Ter Multiple submitters L-2-hydroxyglutaric aciduria
- p.Asp320fs Multiple submitters L-2-hydroxyglutaric aciduria
- p.Met1Val Multiple submitters Inborn genetic diseases
- p.Met372fs Multiple submitters L-2-hydroxyglutaric aciduria
- p.Pro177fs Multiple submitters L-2-hydroxyglutaric aciduria
- p.Tyr301Ter Multiple submitters L-2-hydroxyglutaric aciduria
- c.1065-13_1196+207del Single submitter L-2-hydroxyglutaric aciduria
- c.256+2T>A Single submitter L-2-hydroxyglutaric aciduria
- c.408+1G>C Single submitter L-2-hydroxyglutaric aciduria
- p.Ala361fs Single submitter L-2-hydroxyglutaric aciduria
- p.Arg339fs Single submitter L-2-hydroxyglutaric aciduria
- p.Gln143Ter Single submitter L-2-hydroxyglutaric aciduria
- p.Gln237Ter Single submitter L-2-hydroxyglutaric aciduria
- p.Glu268Ter Single submitter L-2-hydroxyglutaric aciduria
- p.Gly156fs Single submitter L-2-hydroxyglutaric aciduria
- p.Gly55Asp Single submitter L-2-hydroxyglutaric aciduria
- p.Gly57Arg Single submitter L-2-hydroxyglutaric aciduria
- p.Gly60Arg Single submitter L-2-hydroxyglutaric aciduria
- p.Lys81fs Single submitter L-2-hydroxyglutaric aciduria
- p.Lys81Glu Single submitter L-2-hydroxyglutaric aciduria
- p.Phe315fs Single submitter L-2-hydroxyglutaric aciduria
- c.140+726del No assertion criteria L-2-hydroxyglutaric aciduria
- c.906+1G>T No assertion criteria L-2-hydroxyglutaric aciduria
Pathogenic/Likely pathogenic 7
- c.256+1G>A Multiple submitters L-2-hydroxyglutaric aciduria
- p.Ala140Pro Multiple submitters L-2-hydroxyglutaric aciduria
- p.Arg335Ter Multiple submitters L-2-hydroxyglutaric aciduria
- p.Glu176Asp Multiple submitters L-2-hydroxyglutaric aciduria
- p.His98Arg Multiple submitters L-2-hydroxyglutaric aciduria
- p.Pro302Leu Multiple submitters L-2-hydroxyglutaric aciduria
- p.Tyr285fs Multiple submitters L-2-hydroxyglutaric aciduria
Likely pathogenic 12
- c.1064+1G>A Multiple submitters L-2-hydroxyglutaric aciduria
- c.1065-2A>G Multiple submitters L-2-hydroxyglutaric aciduria
- p.Tyr123Cys Multiple submitters L-2-hydroxyglutaric aciduria
- c.1196+2T>G Single submitter
- c.140+2_140+8del Single submitter L-2-hydroxyglutaric aciduria
- p.Cys113Ter Single submitter Abnormality of metabolism/homeostasis
- p.Gly156Val Single submitter L-2-hydroxyglutaric aciduria
- p.Ile185Phe Single submitter
- p.Lys136Arg Single submitter L-2-hydroxyglutaric aciduria
- p.Lys246= Single submitter L-2-hydroxyglutaric aciduria
- p.Tyr195Cys Single submitter L-2-hydroxyglutaric aciduria
- p.Tyr238Ter Single submitter L-2-hydroxyglutaric aciduria
Conflicting classifications of pathogenicity 18
- c.1197-2A>T Single submitter Inborn genetic diseases
- c.408+14T>C Single submitter L-2-hydroxyglutaric aciduria
- p.Ala209= Single submitter L-2-hydroxyglutaric aciduria
- p.Ala423= Single submitter L-2-hydroxyglutaric aciduria
- p.Arg251Gln Single submitter Inborn genetic diseases ⚠
- p.Arg277Gln Single submitter Inborn genetic diseases ⚠
- p.Arg282Trp Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Gln459Arg Single submitter Inborn genetic diseases ⚠
- p.Glu82= Single submitter L-2-hydroxyglutaric aciduria
- p.Gly211Val Single submitter Inborn genetic diseases ⚠
- p.Ile392Val Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Ile76Val Single submitter Inborn genetic diseases ⚠
- p.Leu385= Single submitter L-2-hydroxyglutaric aciduria
- p.Pro24Ser Single submitter Inborn genetic diseases ⚠
- p.Pro3Leu Single submitter Inborn genetic diseases ⚠
- p.Ser41Gly Single submitter Inborn genetic diseases ⚠
- p.Thr393Ala Single submitter Inborn genetic diseases ⚠
- p.Val54Ile Single submitter Inborn genetic diseases ⚠
Benign 20
- c.1196+34C>T Multiple submitters
- c.141-133C>T Multiple submitters
- c.408+36A>G Multiple submitters
- c.541-28C>T Multiple submitters
- c.738+15G>A Multiple submitters L-2-hydroxyglutaric aciduria
- c.*97A>C Multiple submitters
- p.Asn216Ser Multiple submitters L-2-hydroxyglutaric aciduria
- c.1064+189A>C Single submitter
- c.1064+193A>C Single submitter
- c.1064+196del Single submitter
- c.1065-13dup Single submitter L-2-hydroxyglutaric aciduria
- c.1065-14_1065-13del Single submitter L-2-hydroxyglutaric aciduria
- c.1197-158T>C Single submitter
- c.141-166T>C Single submitter
- c.256+165C>A Single submitter
- c.256+235G>A Single submitter
- c.704-4del Single submitter L-2-hydroxyglutaric aciduria
- c.704-4dup Single submitter L-2-hydroxyglutaric aciduria
- c.738+114_738+115insGTAAAA Single submitter
- c.906+28dup Single submitter
Benign/Likely benign 12
- c.409-15dup Multiple submitters L-2-hydroxyglutaric aciduria
- c.409-5del Multiple submitters L-2-hydroxyglutaric aciduria
- c.703+12T>C Multiple submitters L-2-hydroxyglutaric aciduria
- p.Arg33Ser Multiple submitters L-2-hydroxyglutaric aciduria
- p.Glu170= Multiple submitters L-2-hydroxyglutaric aciduria
- p.Gly451= Multiple submitters L-2-hydroxyglutaric aciduria
- p.Ile53= Multiple submitters L-2-hydroxyglutaric aciduria
- p.Leu112= Multiple submitters L-2-hydroxyglutaric aciduria
- p.Leu18Arg Multiple submitters L-2-hydroxyglutaric aciduria
- p.Pro280= Multiple submitters L-2-hydroxyglutaric aciduria
- p.Tyr367Cys Multiple submitters L-2-hydroxyglutaric aciduria ⚠
- p.Val2= Multiple submitters L-2-hydroxyglutaric aciduria
Likely benign 90
- c.1064+5C>T Multiple submitters L-2-hydroxyglutaric aciduria
- c.1065-14T>G Multiple submitters L-2-hydroxyglutaric aciduria
- p.Ala20= Multiple submitters
- p.Ala329= Multiple submitters L-2-hydroxyglutaric aciduria
- p.Asp284= Multiple submitters L-2-hydroxyglutaric aciduria
- p.Cys252= Multiple submitters L-2-hydroxyglutaric aciduria
- p.Gly221= Multiple submitters L-2-hydroxyglutaric aciduria
- p.Gly400= Multiple submitters L-2-hydroxyglutaric aciduria
- p.Ile240= Multiple submitters L-2-hydroxyglutaric aciduria
- p.Leu200= Multiple submitters L-2-hydroxyglutaric aciduria
- p.Ser23= Multiple submitters L-2-hydroxyglutaric aciduria
- p.Thr245= Multiple submitters L-2-hydroxyglutaric aciduria
- p.Thr46Ile Multiple submitters L-2-hydroxyglutaric aciduria
- p.Val213= Multiple submitters L-2-hydroxyglutaric aciduria
- c.1064+13_1064+16del Single submitter L-2-hydroxyglutaric aciduria
- c.1064+19A>G Single submitter
- c.1196+16A>C Single submitter L-2-hydroxyglutaric aciduria
- c.1196+20A>C Single submitter L-2-hydroxyglutaric aciduria
- c.1197-11T>C Single submitter L-2-hydroxyglutaric aciduria
- c.1197-17A>T Single submitter L-2-hydroxyglutaric aciduria
- c.1197-20C>T Single submitter L-2-hydroxyglutaric aciduria
- c.140+11G>A Single submitter L-2-hydroxyglutaric aciduria
- c.140+17C>G Single submitter L-2-hydroxyglutaric aciduria
- c.140+570C>T Single submitter
- c.141-14A>G Single submitter L-2-hydroxyglutaric aciduria
- c.141-15G>T Single submitter L-2-hydroxyglutaric aciduria
- c.141-16T>A Single submitter L-2-hydroxyglutaric aciduria
- c.257-9G>C Single submitter L-2-hydroxyglutaric aciduria
- c.408+13del Single submitter L-2-hydroxyglutaric aciduria
- c.408+15T>C Single submitter L-2-hydroxyglutaric aciduria
- c.408+7C>T Single submitter L-2-hydroxyglutaric aciduria
- c.409-13T>A Single submitter
- c.409-19T>C Single submitter
- c.409-20T>C Single submitter L-2-hydroxyglutaric aciduria
- c.409-4G>T Single submitter L-2-hydroxyglutaric aciduria
- c.409-6_409-5del Single submitter Inborn genetic diseases
- c.540+19G>A Single submitter L-2-hydroxyglutaric aciduria
- c.540+20A>G Single submitter L-2-hydroxyglutaric aciduria
- c.541-12A>C Single submitter L-2-hydroxyglutaric aciduria
- c.541-15A>G Single submitter L-2-hydroxyglutaric aciduria
- c.703+13del Single submitter L-2-hydroxyglutaric aciduria
- c.738+16C>A Single submitter L-2-hydroxyglutaric aciduria
- c.739-12A>G Single submitter L-2-hydroxyglutaric aciduria
- c.739-20_739-19del Single submitter L-2-hydroxyglutaric aciduria
- c.739-5A>G Single submitter L-2-hydroxyglutaric aciduria
- c.906+18C>T Single submitter L-2-hydroxyglutaric aciduria
- c.906+7A>G Single submitter L-2-hydroxyglutaric aciduria
- c.907-13G>A Single submitter L-2-hydroxyglutaric aciduria
- c.907-22_907-20del Single submitter L-2-hydroxyglutaric aciduria
- c.*2413G>A Single submitter
- c.*4056C>T Single submitter
- p.Ala118= Single submitter L-2-hydroxyglutaric aciduria
- p.Ala151= Single submitter L-2-hydroxyglutaric aciduria
- p.Ala26= Single submitter L-2-hydroxyglutaric aciduria
- p.Ala30= Single submitter L-2-hydroxyglutaric aciduria
- p.Asp410= Single submitter L-2-hydroxyglutaric aciduria
- p.Cys12= Single submitter L-2-hydroxyglutaric aciduria
- p.Cys179= Single submitter L-2-hydroxyglutaric aciduria
- p.Cys272= Single submitter L-2-hydroxyglutaric aciduria
- p.Gln126= Single submitter L-2-hydroxyglutaric aciduria
- p.Gln133= Single submitter L-2-hydroxyglutaric aciduria
- p.Gly135= Single submitter L-2-hydroxyglutaric aciduria
- p.Gly211= Single submitter
- p.Gly326= Single submitter L-2-hydroxyglutaric aciduria
- p.Gly413= Single submitter
- p.Gly56= Single submitter L-2-hydroxyglutaric aciduria
- p.His88= Single submitter L-2-hydroxyglutaric aciduria
- p.Ile250= Single submitter L-2-hydroxyglutaric aciduria
- p.Leu152= Single submitter
- p.Leu166= Single submitter L-2-hydroxyglutaric aciduria
- p.Leu269= Single submitter L-2-hydroxyglutaric aciduria
- p.Leu37= Single submitter L-2-hydroxyglutaric aciduria
- p.Leu69= Single submitter L-2-hydroxyglutaric aciduria
- p.Lys174= Single submitter L-2-hydroxyglutaric aciduria
- p.Phe461= Single submitter L-2-hydroxyglutaric aciduria
- p.Pro105= Single submitter L-2-hydroxyglutaric aciduria
- p.Pro162= Single submitter L-2-hydroxyglutaric aciduria
- p.Pro177= Single submitter L-2-hydroxyglutaric aciduria
- p.Pro3= Single submitter
- p.Pro304= Single submitter L-2-hydroxyglutaric aciduria
- p.Pro72= Single submitter L-2-hydroxyglutaric aciduria
- p.Ser201= Single submitter L-2-hydroxyglutaric aciduria
- p.Ser23Phe Single submitter Inborn genetic diseases
- p.Ser41= Single submitter L-2-hydroxyglutaric aciduria
- p.Thr316= Single submitter L-2-hydroxyglutaric aciduria
- p.Thr381= Single submitter L-2-hydroxyglutaric aciduria
- p.Thr46= Single submitter L-2-hydroxyglutaric aciduria
- p.Tyr178= Single submitter L-2-hydroxyglutaric aciduria
- p.Tyr338= Single submitter L-2-hydroxyglutaric aciduria
- p.Tyr373= Single submitter L-2-hydroxyglutaric aciduria
Uncertain significance 152
- c.140+3G>C Multiple submitters Inborn genetic diseases
- c.738+5A>C Multiple submitters L-2-hydroxyglutaric aciduria
- p.Ala26Val Multiple submitters L-2-hydroxyglutaric aciduria ⚠
- p.Ala332Thr Multiple submitters L-2-hydroxyglutaric aciduria ⚠
- p.Arg196Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg265His Multiple submitters Inborn genetic diseases ⚠
- p.Arg265Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg282Gln Multiple submitters L-2-hydroxyglutaric aciduria ⚠
- p.Asp410Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gln458Lys Multiple submitters L-2-hydroxyglutaric aciduria ⚠
- p.Glu208Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu268Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu336Lys Multiple submitters L-2-hydroxyglutaric aciduria ⚠
- p.Gly160Asp Multiple submitters L-2-hydroxyglutaric aciduria ⚠
- p.Gly424Glu Multiple submitters L-2-hydroxyglutaric aciduria ⚠
- p.His92Gln Multiple submitters Inborn genetic diseases ⚠
- p.Ile278Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile51Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile97Leu Multiple submitters Inborn genetic diseases
- p.Met183Val Multiple submitters L-2-hydroxyglutaric aciduria ⚠
- p.Met349Ile Multiple submitters Inborn genetic diseases ⚠
- p.Phe377Ser Multiple submitters L-2-hydroxyglutaric aciduria ⚠
- p.Phe49Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro162Leu Multiple submitters L-2-hydroxyglutaric aciduria ⚠
- p.Pro177Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser344Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser41Asn Multiple submitters L-2-hydroxyglutaric aciduria ⚠
- p.Tyr178Phe Multiple submitters L-2-hydroxyglutaric aciduria ⚠
- p.Tyr238Cys Multiple submitters L-2-hydroxyglutaric aciduria ⚠
- p.Tyr367His Multiple submitters Inborn genetic diseases ⚠
- p.Val279Ile Multiple submitters L-2-hydroxyglutaric aciduria ⚠
- p.Val296Ala Multiple submitters Inborn genetic diseases ⚠
- c.1065-3C>T Single submitter Inborn genetic diseases
- c.140+1G>A Single submitter L-2-hydroxyglutaric aciduria
- c.141-20A>C Single submitter L-2-hydroxyglutaric aciduria
- c.256+3A>G Single submitter L-2-hydroxyglutaric aciduria
- c.704-14T>C Single submitter
- c.738+6del Single submitter Inborn genetic diseases
- c.906+5G>T Single submitter L-2-hydroxyglutaric aciduria
- p.Ala117Thr Single submitter Inborn genetic diseases ⚠
- p.Ala26Thr Single submitter Inborn genetic diseases ⚠
- p.Ala329Val Single submitter Inborn genetic diseases ⚠
- p.Ala361Glu Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Ala423Thr Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Ala438Thr Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Ala442fs Single submitter L-2-hydroxyglutaric aciduria
- p.Ala448Pro Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Ala4Gly Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Ala62Thr Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Ala64Pro Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Ala64Val Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Ala86= Single submitter L-2-hydroxyglutaric aciduria
- p.Arg14Gln Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Arg196Gln Single submitter Inborn genetic diseases ⚠
- p.Arg196Pro Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Arg251Pro Single submitter Inborn genetic diseases
- p.Arg265Cys Single submitter Inborn genetic diseases ⚠
- p.Arg282Pro Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Arg307Gln Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Arg307Trp Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Arg335Gln Single submitter ⚠
- p.Arg405Gly Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Arg42Cys Single submitter Inborn genetic diseases ⚠
- p.Arg460Ile Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Arg6Gly Single submitter Inborn genetic diseases ⚠
- p.Arg70Gln Single submitter Inborn genetic diseases ⚠
- p.Asn159Lys Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Asn216Asp Single submitter ⚠
- p.Asn299Asp Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Asn299Lys Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Asp171Val Single submitter Inborn genetic diseases ⚠
- p.Asp234Asn Single submitter Inborn genetic diseases ⚠
- p.Asp264Glu Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Asp305Gly Single submitter Inborn genetic diseases ⚠
- p.Asp342Asn Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Asp350Gly Single submitter Inborn genetic diseases ⚠
- p.Asp396Gly Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Asp396His Single submitter Inborn genetic diseases ⚠
- p.Asp455Val Single submitter ⚠
- p.Asp84Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln126Arg Single submitter Inborn genetic diseases ⚠
- p.Glu145Lys Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Glu154Gln Single submitter ⚠
- p.Glu249Asp Single submitter Inborn genetic diseases ⚠
- p.Glu268Val Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Gly116Asp Single submitter ⚠
- p.Gly181Ser Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Gly191Ser Single submitter Inborn genetic diseases ⚠
- p.Gly260Val Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Gly312Glu Single submitter Inborn genetic diseases ⚠
- p.Gly39Arg Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Gly400Asp Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Gly40Arg Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Gly40Ser Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Gly426Arg Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Gly429Arg Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Gly56Asp Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Gly56Ser Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Gly91Glu Single submitter Inborn genetic diseases ⚠
- p.Gly95Asp Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.His434Asp Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.His434Gln Single submitter Inborn genetic diseases ⚠
- p.His88Tyr Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.His92Arg Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.His92Tyr Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Ile192Val Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Ile233Val Single submitter Inborn genetic diseases ⚠
- p.Ile242Met Single submitter Inborn genetic diseases ⚠
- p.Ile242Val Single submitter Inborn genetic diseases ⚠
- p.Ile353Thr Single submitter ⚠
- p.Ile392Thr Single submitter Inborn genetic diseases ⚠
- p.Ile394Thr Single submitter Inborn genetic diseases ⚠
- p.Ile428Thr Single submitter ⚠
- p.Ile447Val Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Leu112Phe Single submitter Inborn genetic diseases ⚠
- p.Leu112Val Single submitter Inborn genetic diseases ⚠
- p.Leu149Arg Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Leu261Phe Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Leu385Phe Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Leu409fs Single submitter L-2-hydroxyglutaric aciduria
- p.Leu67Val Single submitter Inborn genetic diseases ⚠
- p.Lys127Arg Single submitter ⚠
- p.Phe308Val Single submitter Inborn genetic diseases ⚠
- p.Phe310Leu Single submitter ⚠
- p.Phe310Val Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Pro162Ser Single submitter Inborn genetic diseases ⚠
- p.Pro276Leu Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Pro276Ser Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Pro302= Single submitter
- p.Pro317Thr Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Pro340Ser Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Pro36Thr Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Pro401Ala Single submitter Inborn genetic diseases ⚠
- p.Pro441Leu Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Ser228Asn Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Ser230Pro Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Ser23Tyr Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Ser344Arg Single submitter L-2-hydroxyglutaric aciduria
- p.Ser395Ile Single submitter ⚠
- p.Thr190Ile Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Thr316Ile Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Thr381Ser Single submitter ⚠
- p.Tyr103Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr301Phe Single submitter ⚠
- p.Tyr373Cys Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Tyr7His Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Val219Ala Single submitter Inborn genetic diseases ⚠
- p.Val255Ala Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Val303Asp Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Val404Leu Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Val420Ile Single submitter L-2-hydroxyglutaric aciduria ⚠
- p.Val96Ile Single submitter Inborn genetic diseases ⚠