IDH1 — 454 ClinVar variants
All ClinVar germline IDH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 262 flagged for review →
2 Pathogenic · 2 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 20 Benign · 1 Benign/Likely benign · 152 Likely benign · 275 Uncertain significance
Full IDH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 262
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.
-
IDH1 p.Ile189Val
Likely pathogenic
Single submitter
Ollier disease
Predictors lean, ClinVar uncertain 198
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 198
-
IDH1 p.Arg317His
Uncertain significance
Multiple submitters
glioma susceptibility 1
- IDH1 p.Asp38Asn Uncertain significance Multiple submitters
- IDH1 p.Ala111Thr Uncertain significance Single submitter
- IDH1 p.Ala134Val Uncertain significance Single submitter
- IDH1 p.Ala141Val Uncertain significance Single submitter
- IDH1 p.Ala256Val Uncertain significance Single submitter
- IDH1 p.Ala268Asp Uncertain significance Single submitter
- IDH1 p.Ala305Ser Uncertain significance Single submitter
- IDH1 p.Ala344Thr Uncertain significance Single submitter
- IDH1 p.Ala353Asp Uncertain significance Single submitter
- IDH1 p.Ala353Gly Uncertain significance Single submitter
- IDH1 p.Ala369Gly Uncertain significance Single submitter
- IDH1 p.Ala378Gly Uncertain significance Single submitter
- IDH1 p.Ala61Thr Uncertain significance Single submitter
- IDH1 p.Ala63Pro Uncertain significance Single submitter
- IDH1 p.Ala74Val Uncertain significance Single submitter
- IDH1 p.Arg20Leu Uncertain significance Single submitter
- IDH1 p.Arg314Gly Uncertain significance Single submitter
- IDH1 p.Arg317Cys Uncertain significance Single submitter
- IDH1 p.Arg317Leu Uncertain significance Single submitter
- IDH1 p.Arg317Pro Uncertain significance Single submitter
- IDH1 p.Arg317Ser Uncertain significance Single submitter
- IDH1 p.Arg388Ser Uncertain significance Single submitter
- IDH1 p.Arg49Pro Uncertain significance Single submitter
- IDH1 p.Arg82Ser Uncertain significance Single submitter
- IDH1 p.Asn171Asp Uncertain significance Single submitter
- IDH1 p.Asn184Lys Uncertain significance Single submitter
- IDH1 p.Asn328Tyr Uncertain significance Single submitter
- IDH1 p.Asn348Lys Uncertain significance Single submitter
- IDH1 p.Asn349Lys Uncertain significance Single submitter
- IDH1 p.Asn393Lys Uncertain significance Single submitter
- IDH1 p.Asn393Ser Uncertain significance Single submitter
- IDH1 p.Asn96Asp Uncertain significance Single submitter
- IDH1 p.Asp137Asn Uncertain significance Single submitter
- IDH1 p.Asp16His Uncertain significance Single submitter
- IDH1 p.Asp186His Uncertain significance Single submitter
- IDH1 p.Asp186Tyr Uncertain significance Single submitter
- IDH1 p.Asp220Asn Uncertain significance Single submitter
- IDH1 p.Asp225Val Uncertain significance Single submitter
- IDH1 p.Asp252Glu Uncertain significance Single submitter
- IDH1 p.Asp273Val Uncertain significance Single submitter
- IDH1 p.Asp390Gly Uncertain significance Single submitter
- IDH1 p.Asp50Val Uncertain significance Single submitter
- IDH1 p.Asp79Glu Uncertain significance Single submitter
- IDH1 p.Cys379Phe Uncertain significance Single submitter
- IDH1 p.Cys73Gly Uncertain significance Single submitter
- IDH1 p.Gln234His Uncertain significance Single submitter
- IDH1 p.Gln238Lys Uncertain significance Single submitter
- IDH1 p.Gln242Glu Uncertain significance Single submitter
- IDH1 p.Gln277His Uncertain significance Single submitter
- IDH1 p.Gln320Pro Uncertain significance Single submitter
- IDH1 p.Gln55Pro Uncertain significance Single submitter
- IDH1 p.Glu247Lys Uncertain significance Single submitter
- IDH1 p.Glu304Gly Uncertain significance Single submitter
- IDH1 p.Glu306Ala Uncertain significance Single submitter
- IDH1 p.Glu306Gln Uncertain significance Single submitter
- IDH1 p.Glu324Gly Uncertain significance Single submitter
- IDH1 p.Glu360Asp Uncertain significance Single submitter
- IDH1 p.Glu396Asp Uncertain significance Single submitter
- IDH1 p.Glu62Ala Uncertain significance Single submitter
- IDH1 p.Glu85Lys Uncertain significance Single submitter
- IDH1 p.Gly104Asp Uncertain significance Single submitter
- IDH1 p.Gly104Ser Uncertain significance Single submitter
- IDH1 p.Gly150Arg Uncertain significance Single submitter
- IDH1 p.Gly15Arg Uncertain significance Single submitter
- IDH1 p.Gly177Asp Uncertain significance Single submitter
- IDH1 p.Gly181Arg Uncertain significance Single submitter
- IDH1 p.Gly221Arg Uncertain significance Single submitter
- IDH1 p.Gly221Val Uncertain significance Single submitter
- IDH1 p.Gly263Arg Uncertain significance Single submitter
- IDH1 p.Gly274Ser Uncertain significance Single submitter
- IDH1 p.Gly284Ala Uncertain significance Single submitter
- IDH1 p.Gly284Glu Uncertain significance Single submitter
- IDH1 p.Gly289Val Uncertain significance Single submitter
- IDH1 p.Gly300Asp Uncertain significance Single submitter
- IDH1 p.Gly310Arg Uncertain significance Single submitter
- IDH1 p.Gly310Glu Uncertain significance Single submitter
- IDH1 p.Gly339Arg Uncertain significance Single submitter
- IDH1 p.Gly382Cys Uncertain significance Single submitter
- IDH1 p.Gly402Glu Uncertain significance Single submitter
- IDH1 p.Gly45Asp Uncertain significance Single submitter
- IDH1 p.Gly45Val Uncertain significance Single submitter
- IDH1 p.Gly70Ser Uncertain significance Single submitter
- IDH1 p.Gly8Ser Uncertain significance Single submitter
- IDH1 p.His133Leu Uncertain significance Single submitter
- IDH1 p.His133Pro Uncertain significance Single submitter
- IDH1 p.His309Pro Uncertain significance Single submitter
-
IDH1 p.His315Tyr
Uncertain significance
Single submitter
Maffucci syndrome
- IDH1 p.His342Arg Uncertain significance Single submitter
- IDH1 p.His342Gln Uncertain significance Single submitter
- IDH1 p.His40Asp Uncertain significance Single submitter
- IDH1 p.Ile113Val Uncertain significance Single submitter
- IDH1 p.Ile128Thr Uncertain significance Single submitter
- IDH1 p.Ile129Ser Uncertain significance Single submitter
- IDH1 p.Ile189Met Uncertain significance Single submitter
- IDH1 p.Ile189Thr Uncertain significance Single submitter
- IDH1 p.Ile215Met Uncertain significance Single submitter
-
IDH1 p.Ile226Val
Uncertain significance
Single submitter
diffuse midline glioma, H3 K27-altered
- IDH1 p.Ile22Phe Uncertain significance Single submitter
- IDH1 p.Ile22Thr Uncertain significance Single submitter
- IDH1 p.Ile244Val Uncertain significance Single submitter
- IDH1 p.Ile251Thr Uncertain significance Single submitter
- IDH1 p.Ile266Met Uncertain significance Single submitter
- IDH1 p.Ile31Val Uncertain significance Single submitter
- IDH1 p.Ile330Thr Uncertain significance Single submitter
- IDH1 p.Ile333Ser Uncertain significance Single submitter
- IDH1 p.Ile364Thr Uncertain significance Single submitter
- IDH1 p.Ile380Ser Uncertain significance Single submitter
- IDH1 p.Ile380Val Uncertain significance Single submitter
- IDH1 p.Ile407Asn Uncertain significance Single submitter
- IDH1 p.Ile46Thr Uncertain significance Single submitter
- IDH1 p.Ile64Arg Uncertain significance Single submitter
- IDH1 p.Ile76Met Uncertain significance Single submitter
-
IDH1 p.Ile99Met
Uncertain significance
Single submitter
Ollier disease
- IDH1 p.Ile99Thr Uncertain significance Single submitter
- IDH1 p.Leu201Val Uncertain significance Single submitter
- IDH1 p.Leu207Trp Uncertain significance Single submitter
- IDH1 p.Leu209Gln Uncertain significance Single submitter
- IDH1 p.Leu216Pro Uncertain significance Single submitter
- IDH1 p.Leu288Phe Uncertain significance Single submitter
- IDH1 p.Leu37Ser Uncertain significance Single submitter
- IDH1 p.Leu383Ile Uncertain significance Single submitter
- IDH1 p.Leu392Phe Uncertain significance Single submitter
- IDH1 p.Leu88Met Uncertain significance Single submitter
- IDH1 p.Lys203Arg Uncertain significance Single submitter
- IDH1 p.Lys217Arg Uncertain significance Single submitter
- IDH1 p.Lys243Gln Uncertain significance Single submitter
- IDH1 p.Lys260Asn Uncertain significance Single submitter
- IDH1 p.Lys260Glu Uncertain significance Single submitter
- IDH1 p.Lys270Glu Uncertain significance Single submitter
- IDH1 p.Lys29Asn Uncertain significance Single submitter
- IDH1 p.Lys374Glu Uncertain significance Single submitter
- IDH1 p.Lys381Glu Uncertain significance Single submitter
- IDH1 p.Lys408Arg Uncertain significance Single submitter
- IDH1 p.Lys65Arg Uncertain significance Single submitter
- IDH1 p.Lys66Arg Uncertain significance Single submitter
- IDH1 p.Met13Thr Uncertain significance Single submitter
- IDH1 p.Met180Arg Uncertain significance Single submitter
- IDH1 p.Met182Ile Uncertain significance Single submitter
- IDH1 p.Met18Val Uncertain significance Single submitter
- IDH1 p.Met254Val Uncertain significance Single submitter
- IDH1 p.Met290Val Uncertain significance Single submitter
- IDH1 p.Met398Leu Uncertain significance Single submitter
- IDH1 p.Met398Val Uncertain significance Single submitter
- IDH1 p.Met91Thr Uncertain significance Single submitter
- IDH1 p.Phe144Leu Uncertain significance Single submitter
- IDH1 p.Phe197Leu Uncertain significance Single submitter
- IDH1 p.Phe223Cys Uncertain significance Single submitter
- IDH1 p.Phe239Ser Uncertain significance Single submitter
- IDH1 p.Phe354Val Uncertain significance Single submitter
Predictors split 63
The independent predictors disagree with each other — read with care.
-
IDH1 p.Met318Thr
Uncertain significance
Multiple submitters
glioma susceptibility 1
- IDH1 p.Val178Ile Benign Multiple submitters
- IDH1 p.Ala179Thr Uncertain significance Single submitter
- IDH1 p.Ala200Gly Uncertain significance Single submitter
- IDH1 p.Ala200Ser Uncertain significance Single submitter
- IDH1 p.Ala305Thr Uncertain significance Single submitter
- IDH1 p.Ala341Asp Uncertain significance Single submitter
- IDH1 p.Ala356Val Uncertain significance Single submitter
- IDH1 p.Ala369Val Uncertain significance Single submitter
- IDH1 p.Ala51Asp Uncertain significance Single submitter
- IDH1 p.Arg20Gly Uncertain significance Single submitter
- IDH1 p.Arg222His Uncertain significance Single submitter
- IDH1 p.Asn348Ser Uncertain significance Single submitter
- IDH1 p.Asn349His Uncertain significance Single submitter
- IDH1 p.Asn385Asp Uncertain significance Single submitter
- IDH1 p.Asn53Ser Uncertain significance Single submitter
- IDH1 p.Asn68Asp Uncertain significance Single submitter
- IDH1 p.Asp160Tyr Uncertain significance Single submitter
- IDH1 p.Asp191Asn Uncertain significance Single submitter
- IDH1 p.Asp38His Uncertain significance Single submitter
- IDH1 p.Asp399Gly Uncertain significance Single submitter
- IDH1 p.Asp59Ala Uncertain significance Single submitter
- IDH1 p.Gln185Lys Uncertain significance Single submitter
- IDH1 p.Gln238His Uncertain significance Single submitter
- IDH1 p.Gln242Pro Uncertain significance Single submitter
- IDH1 p.Gln323His Uncertain significance Single submitter
- IDH1 p.Gln90Arg Uncertain significance Single submitter
- IDH1 p.Glu240Lys Uncertain significance Single submitter
- IDH1 p.Glu28Gly Uncertain significance Single submitter
- IDH1 p.Glu403Lys Uncertain significance Single submitter
- IDH1 p.Glu62Lys Uncertain significance Single submitter
- IDH1 p.Glu84Asp Uncertain significance Single submitter
- IDH1 p.Gly161Glu Uncertain significance Single submitter
- IDH1 p.Gly289Ala Uncertain significance Single submitter
-
IDH1 p.His194Tyr
Uncertain significance
Single submitter
Ollier disease
- IDH1 p.His342Tyr Uncertain significance Single submitter
- IDH1 p.Ile129Met Uncertain significance Single submitter
- IDH1 p.Ile230Leu Uncertain significance Single submitter
- IDH1 p.Ile330Met Uncertain significance Single submitter
- IDH1 p.Ile333Leu Uncertain significance Single submitter
- IDH1 p.Ile364Met Uncertain significance Single submitter
- IDH1 p.Lys374Arg Uncertain significance Single submitter
- IDH1 p.Lys413Ile Uncertain significance Single submitter
- IDH1 p.Met13Ile Uncertain significance Single submitter
- IDH1 p.Met180Val Uncertain significance Single submitter
- IDH1 p.Met199Val Uncertain significance Single submitter
- IDH1 p.Met318Ile Uncertain significance Single submitter
- IDH1 p.Met318Val Uncertain significance Single submitter
- IDH1 p.Phe371Ile Uncertain significance Single submitter
- IDH1 p.Pro127Ser Uncertain significance Single submitter
- IDH1 p.Pro206Ala Uncertain significance Single submitter
- IDH1 p.Pro384Arg Uncertain significance Single submitter
- IDH1 p.Ser280Cys Uncertain significance Single submitter
- IDH1 p.Ser363Phe Uncertain significance Single submitter
- IDH1 p.Ser389Tyr Uncertain significance Single submitter
- IDH1 p.Thr142Ala Uncertain significance Single submitter
- IDH1 p.Thr142Ile Uncertain significance Single submitter
- IDH1 p.Thr157Lys Uncertain significance Single submitter
- IDH1 p.Thr366Ala Uncertain significance Single submitter
- IDH1 p.Thr52Ser Uncertain significance Single submitter
- IDH1 p.Val362Ala Uncertain significance Single submitter
- IDH1 p.Val71Leu Uncertain significance Single submitter
-
IDH1 p.Glu262Lys
Uncertain significance
No assertion criteria
lymphoma
All IDH1 variants
Pathogenic 2
- p.Arg132Leu Single submitter
- p.Arg132Ser Single submitter
Pathogenic/Likely pathogenic 2
- p.Arg132Cys Multiple submitters Maffucci syndrome
- p.Arg132His Multiple submitters IDH1-related disorders
Likely pathogenic 2
- p.Cys297Phe Single submitter paroxysmal extreme pain disorder
- p.Ile189Val Single submitter Ollier disease ⚠
Benign 20
- c.122+105G>A Multiple submitters
- c.123-4C>T Multiple submitters
- c.415-238A>G Multiple submitters
- c.415-4A>G Multiple submitters
- c.699-241C>A Multiple submitters
- c.699-6T>C Multiple submitters
- p.Val178Ile Multiple submitters ⚠
- p.Val71Ile Multiple submitters
- c.1154+300C>T Single submitter
- c.1155-225_1155-224insGA Single submitter
- c.1155-5G>A Single submitter
- c.122+166dup Single submitter
- c.415-123del Single submitter
- c.415-141_415-138dup Single submitter
- c.415-141_415-139dup Single submitter
- c.415-141_415-140dup Single submitter
- c.415-141dup Single submitter
- c.520+27dup Single submitter
- c.992-273T>C Single submitter
- p.Tyr183Cys Single submitter
Benign/Likely benign 1
- p.Lys236= Multiple submitters
Likely benign 152
- p.Gly175= Multiple submitters
- p.Phe32Val Multiple submitters
- p.Pro78= Multiple submitters
- p.Ser122= Multiple submitters
- p.Thr325= Multiple submitters
- p.Tyr34= Multiple submitters
- p.Val152= Multiple submitters
- p.Ala179= Single submitter
- p.Ala241= Single submitter
- p.Ala268= Single submitter
- p.Ala308= Single submitter
- p.Ala335= Single submitter
- p.Ala341= Single submitter
- p.Ala353= Single submitter
- p.Ala353Ser Single submitter
- p.Ala377= Single submitter
- p.Ala412= Single submitter
- p.Ala51= Single submitter
- p.Ala63= Single submitter
- p.Arg100= Single submitter
- p.Arg119= Single submitter
- p.Arg20= Single submitter
- p.Arg317= Single submitter
- p.Arg82= Single submitter
- p.Asn271= Single submitter
- p.Asn348= Single submitter
- p.Asn349= Single submitter
- p.Asn357= Single submitter
- p.Asn385= Single submitter
- p.Asn53= Single submitter
- p.Asn96= Single submitter
- p.Asp160= Single submitter
- p.Asp186= Single submitter
- p.Asp225= Single submitter
- p.Asp252= Single submitter
- p.Asp275= Single submitter
- p.Asp279= Single submitter
- p.Asp299= Single submitter
- p.Asp38= Single submitter
- p.Asp50= Single submitter
- p.Asp59= Single submitter
- p.Asp79= Single submitter
- p.Cys379= Single submitter
- p.Gln163= Single submitter
- p.Gln238= Single submitter
- p.Gln242= Single submitter
- p.Gln257= Single submitter
- p.Gln323= Single submitter
- p.Gln411= Single submitter
- p.Glu174Asp Single submitter
- p.Glu240= Single submitter
- p.Glu247= Single submitter
- p.Glu304= Single submitter
- p.Glu396= Single submitter
- p.Glu403= Single submitter
- p.Glu84= Single submitter
- p.Glu85= Single submitter
- p.Gly104= Single submitter
- p.Gly105= Single submitter
- p.Gly131= Single submitter
- p.Gly148= Single submitter
- p.Gly177= Single submitter
- p.Gly204= Single submitter
- p.Gly264= Single submitter
- p.Gly284= Single submitter
- p.Gly300= Single submitter
- p.Gly339= Single submitter
- p.Gly382= Single submitter
- p.Gly402= Single submitter
- p.Gly7= Single submitter
- p.Gly70= Single submitter
- p.His194= Single submitter
- p.His248= Single submitter
- p.His309= Single submitter
- p.His315= Single submitter
- p.His40= Single submitter
- p.Ile102= Single submitter
- p.Ile112= Single submitter
- p.Ile113= Single submitter
- p.Ile117= Single submitter
- p.Ile128= Single submitter
- p.Ile21= Single submitter
- p.Ile22= Single submitter
- p.Ile230= Single submitter
- p.Ile244= Single submitter
- p.Ile251= Single submitter
- p.Ile266= Single submitter
- p.Ile5= Single submitter
- p.Leu103= Single submitter
- p.Leu168= Single submitter
- p.Leu201= Single submitter
- p.Leu209= Single submitter
- p.Leu25= Single submitter
- p.Leu250= Single submitter
- p.Leu288= Single submitter
- p.Leu359= Single submitter
- p.Leu37= Single submitter
- p.Leu39= Single submitter
- p.Leu88= Single submitter
- p.Lys164= Single submitter
- p.Lys224= Single submitter
- p.Lys243= Single submitter
- p.Lys301= Single submitter
- p.Lys321= Single submitter
- p.Lys345= Single submitter
- p.Lys350= Single submitter
- p.Lys374= Single submitter
- p.Lys3Gln Single submitter
- p.Lys406= Single submitter
- p.Lys72= Single submitter
- p.Lys81= Single submitter
- p.Lys87= Single submitter
- p.Lys93= Single submitter
- p.Phe108= Single submitter
- p.Phe334= Single submitter
- p.Pro118= Single submitter
- p.Pro149= Single submitter
- p.Pro298= Single submitter
- p.Pro384= Single submitter
- p.Ser195= Single submitter
- p.Ser202= Single submitter
- p.Ser237= Single submitter
- p.Ser278= Single submitter
- p.Ser280= Single submitter
- p.Ser363= Single submitter
- p.Ser9= Single submitter
- p.Ser94= Single submitter
- p.Thr106= Single submitter
- p.Thr162Ser Single submitter
- p.Thr19= Single submitter
- p.Thr292= Single submitter
- p.Thr302= Single submitter
- p.Thr311= Single submitter
- p.Thr77= Single submitter
- p.Thr98= Single submitter
- p.Tyr156= Single submitter
- p.Tyr219= Single submitter
- p.Tyr316= Single submitter
- p.Tyr319= Single submitter
- p.Tyr42= Single submitter
- p.Val10= Single submitter
- p.Val107= Single submitter
- p.Val146= Single submitter
- p.Val178= Single submitter
- p.Val276= Single submitter
- p.Val281= Single submitter
- p.Val294= Single submitter
- p.Val296= Single submitter
- p.Val303= Single submitter
- p.Val362= Single submitter
- p.Val386= Single submitter
- p.Val71= Single submitter
Uncertain significance 275
- p.Arg317His Multiple submitters glioma susceptibility 1 ⚠
- p.Asp38Asn Multiple submitters ⚠
- p.Met318Thr Multiple submitters glioma susceptibility 1 ⚠
- p.Ala111Thr Single submitter ⚠
- p.Ala134Val Single submitter ⚠
- p.Ala141Val Single submitter ⚠
- p.Ala179Thr Single submitter ⚠
- p.Ala200Gly Single submitter ⚠
- p.Ala200Ser Single submitter ⚠
- p.Ala256Val Single submitter ⚠
- p.Ala268Asp Single submitter ⚠
- p.Ala305Ser Single submitter ⚠
- p.Ala305Thr Single submitter ⚠
- p.Ala341Asp Single submitter ⚠
- p.Ala344Thr Single submitter ⚠
- p.Ala353Asp Single submitter ⚠
- p.Ala353Gly Single submitter ⚠
- p.Ala356Val Single submitter ⚠
- p.Ala369Gly Single submitter ⚠
- p.Ala369Val Single submitter ⚠
- p.Ala378Gly Single submitter ⚠
- p.Ala51Asp Single submitter ⚠
- p.Ala61Thr Single submitter ⚠
- p.Ala63Pro Single submitter ⚠
- p.Ala74Val Single submitter ⚠
- p.Arg20Gln Single submitter glioma susceptibility 1
- p.Arg20Gly Single submitter ⚠
- p.Arg20Leu Single submitter ⚠
- p.Arg222His Single submitter ⚠
- p.Arg314Gly Single submitter ⚠
- p.Arg317Cys Single submitter ⚠
- p.Arg317Leu Single submitter ⚠
- p.Arg317Pro Single submitter ⚠
- p.Arg317Ser Single submitter ⚠
- p.Arg388Cys Single submitter
- p.Arg388Ser Single submitter ⚠
- p.Arg49Pro Single submitter ⚠
- p.Arg82Ser Single submitter ⚠
- p.Asn171Asp Single submitter ⚠
- p.Asn184Lys Single submitter ⚠
- p.Asn328Tyr Single submitter ⚠
- p.Asn348Lys Single submitter ⚠
- p.Asn348Ser Single submitter ⚠
- p.Asn349Asp Single submitter
- p.Asn349His Single submitter ⚠
- p.Asn349Lys Single submitter ⚠
- p.Asn385Asp Single submitter ⚠
- p.Asn393Lys Single submitter ⚠
- p.Asn393Ser Single submitter ⚠
- p.Asn53Ser Single submitter ⚠
- p.Asn68Asp Single submitter ⚠
- p.Asn96Asp Single submitter ⚠
- p.Asp137Asn Single submitter ⚠
- p.Asp160Tyr Single submitter ⚠
- p.Asp16His Single submitter ⚠
- p.Asp186His Single submitter ⚠
- p.Asp186Tyr Single submitter ⚠
- p.Asp191Asn Single submitter ⚠
- p.Asp220Asn Single submitter ⚠
- p.Asp225Val Single submitter ⚠
- p.Asp252Glu Single submitter ⚠
- p.Asp273Val Single submitter ⚠
- p.Asp38His Single submitter ⚠
- p.Asp390Gly Single submitter ⚠
- p.Asp399Gly Single submitter ⚠
- p.Asp50Val Single submitter ⚠
- p.Asp59Ala Single submitter ⚠
- p.Asp79Glu Single submitter ⚠
- p.Cys379Phe Single submitter ⚠
- p.Cys73Gly Single submitter ⚠
- p.Gln185Lys Single submitter ⚠
- p.Gln234His Single submitter ⚠
- p.Gln238His Single submitter ⚠
- p.Gln238Lys Single submitter ⚠
- p.Gln242Glu Single submitter ⚠
- p.Gln242Pro Single submitter ⚠
- p.Gln277His Single submitter ⚠
- p.Gln320Pro Single submitter ⚠
- p.Gln323His Single submitter ⚠
- p.Gln55Pro Single submitter ⚠
- p.Gln90Arg Single submitter ⚠
- p.Glu153Gly Single submitter
- p.Glu153Lys Single submitter
- p.Glu240Lys Single submitter ⚠
- p.Glu247Lys Single submitter ⚠
- p.Glu28Gly Single submitter ⚠
- p.Glu304Gly Single submitter ⚠
- p.Glu306Ala Single submitter ⚠
- p.Glu306Gln Single submitter ⚠
- p.Glu324Gly Single submitter ⚠
- p.Glu360Asp Single submitter ⚠
- p.Glu396Asp Single submitter ⚠
- p.Glu403Lys Single submitter ⚠
- p.Glu62Ala Single submitter ⚠
- p.Glu62Lys Single submitter ⚠
- p.Glu84Asp Single submitter ⚠
- p.Glu85Lys Single submitter ⚠
- p.Gly104Asp Single submitter ⚠
- p.Gly104Ser Single submitter ⚠
- p.Gly150Arg Single submitter ⚠
- p.Gly15Arg Single submitter ⚠
- p.Gly161Glu Single submitter ⚠
- p.Gly176Arg Single submitter
- p.Gly177Asp Single submitter ⚠
- p.Gly181Arg Single submitter ⚠
- p.Gly221Arg Single submitter ⚠
- p.Gly221Val Single submitter ⚠
- p.Gly263Arg Single submitter ⚠
- p.Gly264Cys Single submitter
- p.Gly274Ser Single submitter ⚠
- p.Gly284Ala Single submitter ⚠
- p.Gly284Glu Single submitter ⚠
- p.Gly289Ala Single submitter ⚠
- p.Gly289Val Single submitter ⚠
- p.Gly300Asp Single submitter ⚠
- p.Gly310Arg Single submitter ⚠
- p.Gly310Glu Single submitter ⚠
- p.Gly339Arg Single submitter ⚠
- p.Gly382Cys Single submitter ⚠
- p.Gly402Glu Single submitter ⚠
- p.Gly45Asp Single submitter ⚠
- p.Gly45Val Single submitter ⚠
- p.Gly70Ser Single submitter ⚠
- p.Gly8Ser Single submitter ⚠
- p.His133Leu Single submitter ⚠
- p.His133Pro Single submitter ⚠
- p.His170Gln Single submitter
- p.His194Tyr Single submitter Ollier disease ⚠
- p.His309Pro Single submitter ⚠
- p.His315Tyr Single submitter Maffucci syndrome ⚠
- p.His342Arg Single submitter ⚠
- p.His342Gln Single submitter ⚠
- p.His342Tyr Single submitter ⚠
- p.His40Asp Single submitter ⚠
- p.Ile113Val Single submitter ⚠
- p.Ile128Thr Single submitter ⚠
- p.Ile129Met Single submitter ⚠
- p.Ile129Ser Single submitter ⚠
- p.Ile189Met Single submitter ⚠
- p.Ile189Thr Single submitter ⚠
- p.Ile215Met Single submitter ⚠
- p.Ile226Val Single submitter diffuse midline glioma, H3 K27-altered ⚠
- p.Ile22Phe Single submitter ⚠
- p.Ile22Thr Single submitter ⚠
- p.Ile230Leu Single submitter ⚠
- p.Ile244Val Single submitter ⚠
- p.Ile251Thr Single submitter ⚠
- p.Ile266Met Single submitter ⚠
- p.Ile31Val Single submitter ⚠
- p.Ile330Met Single submitter ⚠
- p.Ile330Thr Single submitter ⚠
- p.Ile333Leu Single submitter ⚠
- p.Ile333Ser Single submitter ⚠
- p.Ile364Met Single submitter ⚠
- p.Ile364Phe Single submitter
- p.Ile364Thr Single submitter ⚠
- p.Ile367Leu Single submitter
- p.Ile380Ser Single submitter ⚠
- p.Ile380Val Single submitter ⚠
- p.Ile407Asn Single submitter ⚠
- p.Ile46Thr Single submitter ⚠
- p.Ile64Arg Single submitter ⚠
- p.Ile76Met Single submitter ⚠
- p.Ile99Met Single submitter Ollier disease ⚠
- p.Ile99Thr Single submitter ⚠
- p.Leu201Val Single submitter ⚠
- p.Leu207Trp Single submitter ⚠
- p.Leu209Gln Single submitter ⚠
- p.Leu216Pro Single submitter ⚠
- p.Leu288Phe Single submitter ⚠
- p.Leu37Ser Single submitter ⚠
- p.Leu383Ile Single submitter ⚠
- p.Leu392Phe Single submitter ⚠
- p.Leu88Met Single submitter ⚠
- p.Lys203Arg Single submitter ⚠
- p.Lys217Arg Single submitter ⚠
- p.Lys243Gln Single submitter ⚠
- p.Lys260Asn Single submitter ⚠
- p.Lys260Glu Single submitter ⚠
- p.Lys270Glu Single submitter ⚠
- p.Lys29Asn Single submitter ⚠
- p.Lys374Arg Single submitter ⚠
- p.Lys374Glu Single submitter ⚠
- p.Lys381Glu Single submitter ⚠
- p.Lys406del Single submitter Ollier disease
- p.Lys408Arg Single submitter ⚠
- p.Lys408Thr Single submitter
- p.Lys413Ile Single submitter ⚠
- p.Lys65Arg Single submitter ⚠
- p.Lys66Arg Single submitter ⚠
- p.Met13Ile Single submitter ⚠
- p.Met13Thr Single submitter ⚠
- p.Met180Arg Single submitter ⚠
- p.Met180Val Single submitter ⚠
- p.Met182Ile Single submitter ⚠
- p.Met18Val Single submitter ⚠
- p.Met199Val Single submitter ⚠
- p.Met254Val Single submitter ⚠
- p.Met290Val Single submitter ⚠
- p.Met318Ile Single submitter ⚠
- p.Met318Val Single submitter ⚠
- p.Met398Leu Single submitter ⚠
- p.Met398Val Single submitter ⚠
- p.Met91Thr Single submitter ⚠
- p.Phe144Leu Single submitter ⚠
- p.Phe197Leu Single submitter ⚠
- p.Phe223Cys Single submitter ⚠
- p.Phe239Ser Single submitter ⚠
- p.Phe354Val Single submitter ⚠
- p.Phe371Ile Single submitter ⚠
- p.Phe395Ser Single submitter
- p.Phe86Leu Single submitter ⚠
- p.Pro127Ser Single submitter ⚠
- p.Pro147Ser Single submitter ⚠
- p.Pro206Ala Single submitter ⚠
- p.Pro298Arg Single submitter ⚠
- p.Pro329Ser Single submitter
- p.Pro329Thr Single submitter ⚠
- p.Pro33Leu Single submitter ⚠
- p.Pro384Arg Single submitter ⚠
- p.Pro78Leu Single submitter ⚠
- p.Pro78Ser Single submitter ⚠
- p.Ser280Cys Single submitter ⚠
- p.Ser280Phe Single submitter acute myeloid leukemia ⚠
- p.Ser280Pro Single submitter ⚠
- p.Ser287Cys Single submitter ⚠
- p.Ser293Arg Single submitter ⚠
- p.Ser326Pro Single submitter diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ⚠
- p.Ser363Ala Single submitter ⚠
- p.Ser363Phe Single submitter ⚠
- p.Ser389Tyr Single submitter ⚠
- p.Ser6Gly Single submitter ⚠
- p.Thr142Ala Single submitter ⚠
- p.Thr142Ile Single submitter ⚠
- p.Thr157Lys Single submitter ⚠
- p.Thr214Ser Single submitter ⚠
- p.Thr302Ala Single submitter ⚠
- p.Thr313Ile Single submitter ⚠
- p.Thr313Ser Single submitter ⚠
- p.Thr325Ala Single submitter ⚠
- p.Thr366Ala Single submitter ⚠
- p.Thr394Ile Single submitter ⚠
- p.Thr52Ala Single submitter ⚠
- p.Thr52Ser Single submitter ⚠
- p.Thr57Pro Single submitter ⚠
- p.Thr75Ala Single submitter ⚠
- p.Thr98Asn Single submitter ⚠
- p.Thr98Ser Single submitter ⚠
- p.Trp23Cys Single submitter ⚠
- p.Trp267Arg Single submitter ⚠
- p.Trp92Arg Single submitter ⚠
- p.Trp92Cys Single submitter ⚠
- p.Trp92Gly Single submitter ⚠
- p.Tyr135His Single submitter ⚠
- p.Tyr139Cys Single submitter ⚠
- p.Tyr208Asp Single submitter ⚠
- p.Tyr231Asn Single submitter ⚠
- p.Tyr231Cys Single submitter ⚠
- p.Tyr272His Single submitter ⚠
- p.Tyr285Cys Single submitter ⚠
- p.Tyr391His Single submitter ⚠
- p.Val145Phe Single submitter ⚠
- p.Val165Met Single submitter ⚠
- p.Val169Ala Single submitter ⚠
- p.Val276Ala Single submitter ⚠
- p.Val276Leu Single submitter ⚠
- p.Val281Met Single submitter ⚠
- p.Val362Ala Single submitter ⚠
- p.Val362Phe Single submitter ⚠
- p.Val386Ala Single submitter ⚠
- p.Val386Leu Single submitter
- p.Val69Ile Single submitter ⚠
- p.Val69Phe Single submitter ⚠
- p.Val71Leu Single submitter ⚠
- p.Glu262Lys No assertion criteria lymphoma ⚠