IDH2 — 294 ClinVar variants
All ClinVar germline IDH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →
2 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 11 Conflicting · 25 Benign · 13 Benign/Likely benign · 89 Likely benign · 150 Uncertain significance
Full IDH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 126
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 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
IDH2 p.Ala22Val
Conflicting
Single submitter
d-2-hydroxyglutaric aciduria 2
- IDH2 p.Ala232Val Conflicting Single submitter
-
IDH2 p.Asp386His
Conflicting
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Gly16Asp
Conflicting
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Ile98Thr
Conflicting
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Thr435Met
Conflicting
Single submitter
Ollier disease
-
IDH2 p.Val8Ala
Conflicting
Single submitter
d-2-hydroxyglutaric aciduria 2
Predictors lean, ClinVar uncertain 94
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
IDH2 p.Ala214Thr
Uncertain significance
Multiple submitters
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Arg393Lys
Uncertain significance
Multiple submitters
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Arg60His
Uncertain significance
Multiple submitters
d-2-hydroxyglutaric aciduria 2
- IDH2 p.Arg89Cys Uncertain significance Multiple submitters
-
IDH2 p.Asp439Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IDH2 p.Cys308Ser
Uncertain significance
Multiple submitters
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Glu208Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IDH2 p.Glu429Lys
Uncertain significance
Multiple submitters
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Gly216Ser
Uncertain significance
Multiple submitters
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Leu391Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IDH2 p.Lys282Glu
Uncertain significance
Multiple submitters
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Met221Thr
Uncertain significance
Multiple submitters
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Met248Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IDH2 p.Phe196Leu
Uncertain significance
Multiple submitters
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Pro23Ser
Uncertain significance
Multiple submitters
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Pro245Leu
Uncertain significance
Multiple submitters
Maffucci syndrome
-
IDH2 p.Pro49Ala
Uncertain significance
Multiple submitters
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Trp21Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IDH2 p.Val305Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IDH2 p.Val305Met
Uncertain significance
Multiple submitters
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Ala174Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- IDH2 p.Ala239Thr Uncertain significance Single submitter
-
IDH2 p.Ala28Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IDH2 p.Ala410Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IDH2 p.Ala47Val
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Arg122Pro
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
- IDH2 p.Arg140Trp Uncertain significance Single submitter
-
IDH2 p.Arg188Gln
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Arg188Gly
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Arg18Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- IDH2 p.Arg288Leu Uncertain significance Single submitter
- IDH2 p.Arg288Trp Uncertain significance Single submitter
-
IDH2 p.Arg382Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
IDH2 p.Arg89His
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Asn136Ile
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Asn281Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- IDH2 p.Asn424Lys Uncertain significance Single submitter
-
IDH2 p.Asp338Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IDH2 p.Asp41Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
IDH2 p.Cys113Phe
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Gln241His
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Gln32Arg
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Gln32Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- IDH2 p.Gln359Arg Uncertain significance Single submitter
-
IDH2 p.Gln452Glu
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
- IDH2 p.Glu150Gln Uncertain significance Single submitter
-
IDH2 p.Glu208Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- IDH2 p.Glu33Gly Uncertain significance Single submitter
-
IDH2 p.Glu404Gln
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Gly144Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IDH2 p.Gly203Asp
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
- IDH2 p.Gly216Cys Uncertain significance Single submitter
-
IDH2 p.Gly302Ala
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
- IDH2 p.Gly361Asp Uncertain significance Single submitter
-
IDH2 p.Gly3Asp
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Gly85Arg
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.His381Gln
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Ile142Thr
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
- IDH2 p.Ile269Val Uncertain significance Single submitter
-
IDH2 p.Ile419Val
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Leu427Val
Uncertain significance
Single submitter
cleft palate
-
IDH2 p.Lys130Gln
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Lys272Arg
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Lys280Asn
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Lys442Arg
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Lys69Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IDH2 p.Met194Ile
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Met219Ile
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Met221Val
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
- IDH2 p.Met248Arg Uncertain significance Single submitter
-
IDH2 p.Met293Leu
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Met411Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IDH2 p.Met58Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- IDH2 p.Pro167Arg Uncertain significance Single submitter
- IDH2 p.Pro19Gln Uncertain significance Single submitter
-
IDH2 p.Pro23Arg
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Pro337Leu
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Pro35Gln
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Ser10Leu
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Thr169Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
IDH2 p.Thr250Ala
Uncertain significance
Single submitter
mitochondrial disease
-
IDH2 p.Thr276Ile
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Thr30Ser
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Thr341Lys
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Thr366Ser
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
- IDH2 p.Trp132Arg Uncertain significance Single submitter
-
IDH2 p.Tyr238His
Uncertain significance
Single submitter
cleft palate
-
IDH2 p.Tyr285Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- IDH2 p.Tyr39His Uncertain significance Single submitter
- IDH2 p.Val147Leu Uncertain significance Single submitter
-
IDH2 p.Val305Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- IDH2 p.Val333Ile Uncertain significance Single submitter
-
IDH2 p.Val46Glu
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Val50Met
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
Predictors split 24
The independent predictors disagree with each other — read with care.
-
IDH2 p.Arg261His
Benign/Likely benign
Multiple submitters
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Arg362Trp
Uncertain significance
Multiple submitters
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Gly421Ser
Uncertain significance
Multiple submitters
teratoma
-
IDH2 p.Met248Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IDH2 p.Ala2Gly Uncertain significance Single submitter
-
IDH2 p.Arg159Cys
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Asn388Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IDH2 p.Asp225Asn
Conflicting
Single submitter
Ollier disease
-
IDH2 p.Gln241Arg
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
- IDH2 p.Gln267Arg Uncertain significance Single submitter
-
IDH2 p.Gln396Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IDH2 p.Glu226Lys
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Ile283Met
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
- IDH2 p.Ile283Thr Uncertain significance Single submitter
-
IDH2 p.Lys130Met
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
- IDH2 p.Lys155Gln Uncertain significance Single submitter
- IDH2 p.Lys275Gln Uncertain significance Single submitter
-
IDH2 p.Pro213Leu
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
- IDH2 p.Ser100Cys Uncertain significance Single submitter
- IDH2 p.Thr341Met Uncertain significance Single submitter
-
IDH2 p.Tyr107Cys
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Tyr210Cys
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Tyr274Cys
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
-
IDH2 p.Val147Ile
Uncertain significance
Single submitter
d-2-hydroxyglutaric aciduria 2
All IDH2 variants
Pathogenic 2
- p.Arg140Gly No assertion criteria d-2-hydroxyglutaric aciduria 2
- p.Arg172Ser No assertion criteria vascular malformation
Pathogenic/Likely pathogenic 1
- p.Arg140Gln Multiple submitters IDH2-related mitochondrial disease
Likely pathogenic 3
- p.Arg172Gly Single submitter Maffucci syndrome
- p.His430Tyr Single submitter ⚠
- p.Ala347Thr No assertion criteria d-2-hydroxyglutaric aciduria 2
Conflicting classifications of pathogenicity 11
- c.1179-3T>A Single submitter d-2-hydroxyglutaric aciduria 2
- p.Ala22Val Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Ala232Val Single submitter ⚠
- p.Asp225Asn Single submitter Ollier disease ⚠
- p.Asp386His Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Gly16Asp Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Ile98Thr Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Leu398= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Thr435Met Single submitter Ollier disease ⚠
- p.Val109= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Val8Ala Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
Benign 25
- c.116-65T>C Multiple submitters
- c.1272-31A>G Multiple submitters
- c.679-72C>G Multiple submitters
- c.679-85G>T Multiple submitters
- c.815+41C>T Multiple submitters
- c.968-158A>G Multiple submitters
- p.Thr434= Multiple submitters d-2-hydroxyglutaric aciduria 2
- c.1081-9C>T Single submitter d-2-hydroxyglutaric aciduria 2
- c.1081-9dup Single submitter d-2-hydroxyglutaric aciduria 2
- c.115+104G>A Single submitter
- c.115+243C>T Single submitter
- c.116-119del Single submitter
- c.207+100del Single submitter
- c.207+186G>A Single submitter
- c.373+295T>C Single submitter
- c.374-192T>G Single submitter
- c.679-218dup Single submitter
- c.679-248_679-246dup Single submitter
- c.679-248_679-247dup Single submitter
- c.679-287_679-286del Single submitter
- c.967+18del Single submitter d-2-hydroxyglutaric aciduria 2
- p.Asn367= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Asn428= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Gly216= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Thr104= Single submitter d-2-hydroxyglutaric aciduria 2
Benign/Likely benign 13
- c.1081-13C>T Multiple submitters d-2-hydroxyglutaric aciduria 2
- c.207+4G>A Multiple submitters d-2-hydroxyglutaric aciduria 2
- c.374-17T>C Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Ala346= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Arg261His Multiple submitters d-2-hydroxyglutaric aciduria 2 ⚠
- p.Arg6= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Arg9= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Asp314= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Gly313= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Leu143= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Ser332= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Thr331= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Thr350= Multiple submitters d-2-hydroxyglutaric aciduria 2
Likely benign 89
- c.679-7C>G Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Ala25= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Ala40= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Ala416= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Gln389= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Glu120= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Gly144= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Leu449= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Met397Val Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Thr341= Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Val297Ala Multiple submitters d-2-hydroxyglutaric aciduria 2
- c.1080+18G>T Single submitter d-2-hydroxyglutaric aciduria 2
- c.1081-8G>A Single submitter d-2-hydroxyglutaric aciduria 2
- c.115+14G>A Single submitter d-2-hydroxyglutaric aciduria 2
- c.115+7G>A Single submitter
- c.115+9C>A Single submitter d-2-hydroxyglutaric aciduria 2
- c.115+9C>G Single submitter d-2-hydroxyglutaric aciduria 2
- c.116-19T>G Single submitter d-2-hydroxyglutaric aciduria 2
- c.1178+20C>T Single submitter d-2-hydroxyglutaric aciduria 2
- c.1178+8T>C Single submitter d-2-hydroxyglutaric aciduria 2
- c.1179-13C>T Single submitter
- c.1271+10C>T Single submitter d-2-hydroxyglutaric aciduria 2
- c.1271+11T>C Single submitter d-2-hydroxyglutaric aciduria 2
- c.1272-18G>A Single submitter
- c.207+15T>C Single submitter d-2-hydroxyglutaric aciduria 2
- c.207+9C>T Single submitter d-2-hydroxyglutaric aciduria 2
- c.208-14C>T Single submitter
- c.373+9G>T Single submitter d-2-hydroxyglutaric aciduria 2
- c.374-20T>C Single submitter d-2-hydroxyglutaric aciduria 2
- c.534+19G>C Single submitter d-2-hydroxyglutaric aciduria 2
- c.535-11T>C Single submitter d-2-hydroxyglutaric aciduria 2
- c.535-13C>T Single submitter d-2-hydroxyglutaric aciduria 2
- c.535-6C>T Single submitter d-2-hydroxyglutaric aciduria 2
- c.678+19T>C Single submitter d-2-hydroxyglutaric aciduria 2
- c.679-16G>A Single submitter d-2-hydroxyglutaric aciduria 2
- c.679-6C>A Single submitter d-2-hydroxyglutaric aciduria 2
- c.815+19A>G Single submitter d-2-hydroxyglutaric aciduria 2
- c.815+6G>T Single submitter
- c.816-19C>T Single submitter d-2-hydroxyglutaric aciduria 2
- c.967+15C>T Single submitter d-2-hydroxyglutaric aciduria 2
- c.968-10T>C Single submitter d-2-hydroxyglutaric aciduria 2
- c.968-8C>T Single submitter
- c.-19G>C Single submitter
- p.Ala232= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Ala47= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Arg353= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Arg377= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Arg382= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Arg451= Single submitter
- p.Asn88His Single submitter Inborn genetic diseases
- p.Asp264= Single submitter
- p.Cys235= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Cys402= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Gln452= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Gly163= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Gly215= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Gly303= Single submitter
- p.Gly383= Single submitter
- p.Gly85= Single submitter d-2-hydroxyglutaric aciduria 2
- p.His173= Single submitter d-2-hydroxyglutaric aciduria 2
- p.His74= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Ile142= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Leu26= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Leu415= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Leu422= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Leu72= Single submitter
- p.Leu79= Single submitter
- p.Leu84= Single submitter
- p.Lys243= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Lys251= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Phe196= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Pro213= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Pro23= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Pro29= Single submitter
- p.Pro337= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Ser301= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Ter453= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Thr117= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Thr146= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Thr224= Single submitter
- p.Thr253= Single submitter
- p.Thr405= Single submitter
- p.Thr92= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Tyr258= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Tyr285= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Val335Ile Single submitter d-2-hydroxyglutaric aciduria 2
- p.Val50= Single submitter
- p.Val7= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Pro87= No assertion criteria IDH2-related disorder
Uncertain significance 150
- c.1271+3G>A Multiple submitters d-2-hydroxyglutaric aciduria 2
- c.534+2T>C Multiple submitters d-2-hydroxyglutaric aciduria 2
- p.Ala214Thr Multiple submitters d-2-hydroxyglutaric aciduria 2 ⚠
- p.Arg362Trp Multiple submitters d-2-hydroxyglutaric aciduria 2 ⚠
- p.Arg393Lys Multiple submitters d-2-hydroxyglutaric aciduria 2 ⚠
- p.Arg60His Multiple submitters d-2-hydroxyglutaric aciduria 2 ⚠
- p.Arg89Cys Multiple submitters ⚠
- p.Asp439Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys308Ser Multiple submitters d-2-hydroxyglutaric aciduria 2 ⚠
- p.Glu208Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu429Lys Multiple submitters d-2-hydroxyglutaric aciduria 2 ⚠
- p.Gly216Ser Multiple submitters d-2-hydroxyglutaric aciduria 2 ⚠
- p.Gly421Ser Multiple submitters teratoma ⚠
- p.Leu391Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys282Glu Multiple submitters d-2-hydroxyglutaric aciduria 2 ⚠
- p.Met221Thr Multiple submitters d-2-hydroxyglutaric aciduria 2 ⚠
- p.Met248Leu Multiple submitters Inborn genetic diseases ⚠
- p.Met248Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe196Leu Multiple submitters d-2-hydroxyglutaric aciduria 2 ⚠
- p.Pro23Ser Multiple submitters d-2-hydroxyglutaric aciduria 2 ⚠
- p.Pro245Leu Multiple submitters Maffucci syndrome ⚠
- p.Pro49Ala Multiple submitters d-2-hydroxyglutaric aciduria 2 ⚠
- p.Trp21Ser Multiple submitters Inborn genetic diseases ⚠
- p.Val305Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val305Met Multiple submitters d-2-hydroxyglutaric aciduria 2 ⚠
- c.1081-3C>T Single submitter d-2-hydroxyglutaric aciduria 2
- c.1271+13G>C Single submitter d-2-hydroxyglutaric aciduria 2
- c.207+5T>C Single submitter d-2-hydroxyglutaric aciduria 2
- c.373+11G>A Single submitter d-2-hydroxyglutaric aciduria 2
- c.373+5G>A Single submitter d-2-hydroxyglutaric aciduria 2
- c.374-10G>A Single submitter
- c.679-7C>A Single submitter d-2-hydroxyglutaric aciduria 2
- c.967+2T>C Single submitter d-2-hydroxyglutaric aciduria 2
- c.967+4C>G Single submitter d-2-hydroxyglutaric aciduria 2
- c.*10C>T Single submitter
- p.Ala174Thr Single submitter Inborn genetic diseases ⚠
- p.Ala239Thr Single submitter ⚠
- p.Ala28Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2Gly Single submitter ⚠
- p.Ala410Thr Single submitter Inborn genetic diseases ⚠
- p.Ala47Val Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Arg122Pro Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Arg140Trp Single submitter ⚠
- p.Arg159Cys Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Arg188Gln Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Arg188Gly Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Arg188Trp Single submitter d-2-hydroxyglutaric aciduria 2
- p.Arg18Gln Single submitter Inborn genetic diseases ⚠
- p.Arg288Leu Single submitter ⚠
- p.Arg288Trp Single submitter ⚠
- p.Arg377Cys Single submitter d-2-hydroxyglutaric aciduria 2
- p.Arg377His Single submitter Inborn genetic diseases
- p.Arg37Cys Single submitter d-2-hydroxyglutaric aciduria 2
- p.Arg382Trp Single submitter Inborn genetic diseases ⚠
- p.Arg89His Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Asn136Ile Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Asn281Ser Single submitter Inborn genetic diseases ⚠
- p.Asn388Thr Single submitter Inborn genetic diseases ⚠
- p.Asn424Lys Single submitter ⚠
- p.Asp225Glu Single submitter d-2-hydroxyglutaric aciduria 2
- p.Asp338Glu Single submitter Inborn genetic diseases ⚠
- p.Asp41Asn Single submitter Inborn genetic diseases ⚠
- p.Asp76Gly Single submitter d-2-hydroxyglutaric aciduria 2
- p.Cys113Phe Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Gln178Ter Single submitter
- p.Gln241Arg Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Gln241His Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Gln267Arg Single submitter ⚠
- p.Gln32Arg Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Gln32Pro Single submitter Inborn genetic diseases ⚠
- p.Gln359Arg Single submitter ⚠
- p.Gln396Lys Single submitter Inborn genetic diseases ⚠
- p.Gln452Glu Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Glu150Gln Single submitter ⚠
- p.Glu208Gln Single submitter Inborn genetic diseases ⚠
- p.Glu226Lys Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Glu33Gly Single submitter ⚠
- p.Glu404Gln Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Gly144Glu Single submitter Inborn genetic diseases ⚠
- p.Gly171= Single submitter d-2-hydroxyglutaric aciduria 2
- p.Gly203Asp Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Gly216Cys Single submitter ⚠
- p.Gly302Ala Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Gly339= Single submitter
- p.Gly361Asp Single submitter ⚠
- p.Gly3Asp Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Gly85Arg Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.His381Gln Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.His420Leu Single submitter d-2-hydroxyglutaric aciduria 2
- p.Ile142fs Single submitter d-2-hydroxyglutaric aciduria 2
- p.Ile142Thr Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Ile269Val Single submitter ⚠
- p.Ile283Met Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Ile283Thr Single submitter ⚠
- p.Ile419Val Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Leu427Val Single submitter cleft palate ⚠
- p.Lys130del Single submitter
- p.Lys130Gln Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Lys130Met Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Lys155Gln Single submitter ⚠
- p.Lys272Arg Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Lys275Gln Single submitter ⚠
- p.Lys280Asn Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Lys384Asn Single submitter d-2-hydroxyglutaric aciduria 2
- p.Lys442Arg Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Lys69Glu Single submitter Inborn genetic diseases ⚠
- p.Met194Ile Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Met219Ile Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Met221Val Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Met248Arg Single submitter ⚠
- p.Met293Leu Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Met411Leu Single submitter Inborn genetic diseases ⚠
- p.Met58Arg Single submitter Inborn genetic diseases ⚠
- p.Phe270fs Single submitter d-2-hydroxyglutaric aciduria 2
- p.Pro167Arg Single submitter ⚠
- p.Pro19Gln Single submitter ⚠
- p.Pro213Leu Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Pro23Arg Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Pro337Leu Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Pro35Gln Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Ser100Cys Single submitter ⚠
- p.Ser10Leu Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Ser365fs Single submitter d-2-hydroxyglutaric aciduria 2
- p.Ter453Trp Single submitter d-2-hydroxyglutaric aciduria 2
- p.Thr146fs Single submitter
- p.Thr169Ile Single submitter Inborn genetic diseases ⚠
- p.Thr250Ala Single submitter mitochondrial disease ⚠
- p.Thr276Ile Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Thr30Ser Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Thr341Lys Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Thr341Met Single submitter ⚠
- p.Thr366Ser Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Trp132Arg Single submitter ⚠
- p.Trp21Ter Single submitter d-2-hydroxyglutaric aciduria 2
- p.Trp244Ser Single submitter d-2-hydroxyglutaric aciduria 2
- p.Tyr107Cys Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Tyr210Cys Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Tyr238His Single submitter cleft palate ⚠
- p.Tyr274Cys Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Tyr285Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr39His Single submitter ⚠
- p.Val147Ile Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Val147Leu Single submitter ⚠
- p.Val305Ala Single submitter Inborn genetic diseases ⚠
- p.Val333Ile Single submitter ⚠
- p.Val351Ile Single submitter d-2-hydroxyglutaric aciduria 2
- p.Val46Glu Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Val50Met Single submitter d-2-hydroxyglutaric aciduria 2 ⚠
- p.Val75Met Single submitter d-2-hydroxyglutaric aciduria 2
- c.-5T>C No assertion criteria lymphatic malformation