HMGCS2 — 336 ClinVar variants
All ClinVar germline HMGCS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →
26 Pathogenic · 8 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 16 Conflicting · 25 Benign · 5 Benign/Likely benign · 98 Likely benign · 137 Uncertain significance
Full HMGCS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 139
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.
-
HMGCS2 p.Arg500His
Pathogenic/Likely pathogenic
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
HMGCS2 p.Arg274His
Conflicting
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Leu59Met
Conflicting
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Lys9Arg
Conflicting
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Pro25Ala
Conflicting
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Pro289His
Conflicting
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Ser392Leu
Conflicting
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Val508Ile
Conflicting
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Predictors lean, ClinVar uncertain 96
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
HMGCS2 p.Ala215Val
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Ala284Gly
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Ala81Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HMGCS2 p.Arg10Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HMGCS2 p.Arg264Gln
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Arg268Gln
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Arg314Cys
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Arg35Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HMGCS2 p.Arg3His
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Arg452Gln
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Arg505Gln
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Arg92Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HMGCS2 p.Arg92His
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Asn178Ser
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Asn318Ser
Uncertain significance
Multiple submitters
HMGCS2-related disorder
-
HMGCS2 p.Asp122Asn
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Asp196His
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Asp287Asn
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Asp365Glu
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Gly168Ser
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Leu386Met
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Met298Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HMGCS2 p.Ser385Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HMGCS2 p.Thr376Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HMGCS2 p.Thr442Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HMGCS2 p.Val199Ile
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Ala17Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Ala17Val
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Ala198Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Ala26Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Ala430Val
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Arg10Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Arg112Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Arg116Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Arg274Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Arg288Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Arg424Gln
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Arg494Gln
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Arg506Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Arg506His
Uncertain significance
Single submitter
Inborn genetic diseases
- HMGCS2 p.Arg92Cys Uncertain significance Single submitter
-
HMGCS2 p.Asn378His
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Asn78Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Asp365Asn
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Asp69Asn
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Cys194Gly
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Gln19Arg
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Gln296Pro
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Gln361Arg
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Gln469Glu
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Glu128Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Glu458Lys
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Gly339Arg
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Gly339Trp
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Gly340Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Gly82Glu
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.His234Arg
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- HMGCS2 p.His396Gln Uncertain significance Single submitter
-
HMGCS2 p.His472Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Ile117Val
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Ile252Val
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Ile407Thr
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Leu12Gln
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- HMGCS2 p.Leu12Pro Uncertain significance Single submitter
-
HMGCS2 p.Leu266Ser
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Leu292Ile
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Leu341Ile
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- HMGCS2 p.Lys243Glu Uncertain significance Single submitter
-
HMGCS2 p.Lys256Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Lys276Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Lys366Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Met180Ile
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Met235Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Met363Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Met381Arg
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Met93Ile
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Phe364Leu
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Phe421Cys
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Phe486Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Pro201Arg
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Pro507Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Ser138Pro
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Ser202Asn
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Ser325Gly
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Ser360Ala
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Ser484Ile
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Thr143Arg
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Thr348Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Thr49Ile
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Thr91Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Tyr297His
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Tyr373Ser
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- HMGCS2 p.Val42Phe Uncertain significance Single submitter
-
HMGCS2 p.Val439Ala
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Val61Gly
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Gly210Glu
Uncertain significance
No assertion criteria
HMGCS2-related disorder
Predictors split 35
The independent predictors disagree with each other — read with care.
-
HMGCS2 p.Arg116Cys
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Arg116His
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Arg264Trp
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Arg314His
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Arg505Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HMGCS2 p.Asp294Asn
Uncertain significance
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Phe174Leu
Pathogenic/Likely pathogenic
Multiple submitters
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Pro120Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HMGCS2 p.Ser371Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HMGCS2 p.Val61Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HMGCS2 p.Ala171Val
Likely pathogenic
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Ala418Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Arg112Trp
Conflicting
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Arg288Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Arg500Cys
Conflicting
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Asn349Ser
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Asp53Gly
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Gly232Val
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Ile160Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Ile197Val
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Leu173Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Leu257Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Lys276Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Met235Ile
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Met235Thr
Conflicting
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Phe470Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Ser183Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Ser248Leu
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Ser272Pro
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Ser40Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Ser419Asn
Uncertain significance
Single submitter
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
-
HMGCS2 p.Ser440Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Ser97Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Thr442Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGCS2 p.Tyr76Cys
Uncertain significance
Single submitter
Inborn genetic diseases
All HMGCS2 variants
Pathogenic 26
- c.1016+1G>A Multiple submitters HMGCS2-related disorders
- p.Arg288Ter Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Asn465fs Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Gly388Arg Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1017-2A>G Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1017-2del Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.559+1G>A Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.850+1G>A Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.850+2T>C Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Arg228Ter Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Arg452Ter Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Arg494Ter Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Glu344Ter Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Gly209fs Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Gly212Ter Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Leu14fs Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Leu23fs Single submitter Inborn genetic diseases
- p.Leu263fs Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ser258fs Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ser411fs Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Trp179Ter Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Tyr239Ter Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Tyr270Ter Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.851-2A>C No assertion criteria 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Pro25fs No assertion criteria 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Tyr167Cys No assertion criteria 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Pathogenic/Likely pathogenic 8
- p.Arg424Ter Multiple submitters HMGCS2-related disorders
- p.Arg500His Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg501Pro Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Gly212Arg Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Phe174Leu Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Phe364Ile Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Tyr242Ter Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Val61fs Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Likely pathogenic 21
- c.1187+1G>C Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.685+2T>A Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Arg501Gln Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Val54Met Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1295-1G>C Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ala171Val Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ala450fs Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Asp136Gly Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Asp240Ala Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Asp240Val Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Cys261Ter Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Glu401Ter Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Glu74Lys Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Gly219Glu Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Gly55Asp Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Leu386fs Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ser311Tyr Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Thr302Ile Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Val141Asp Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Val253Ala Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.687del No assertion criteria 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Conflicting classifications of pathogenicity 16
- c.851-14G>A Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ala190= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ala58= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Arg112Trp Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg274His Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg500Cys Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Leu59Met Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Lys9Arg Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Met235Thr Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Pro207= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Pro25Ala Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Pro289His Single submitter Inborn genetic diseases ⚠
- p.Ser37= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ser392Leu Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Tyr412= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Val508Ile Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
Benign 25
- c.1188-60GT[16] Multiple submitters
- c.1188-60GT[17] Multiple submitters
- c.1188-60GT[19] Multiple submitters
- c.1421-217A>C Multiple submitters
- c.1421-37C>T Multiple submitters
- c.685+68T>C Multiple submitters
- c.851-57A>G Multiple submitters
- c.-11C>T Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.*12A>C Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.*5+53A>G Multiple submitters
- c.*5+68A>G Multiple submitters
- c.*6-16T>C Multiple submitters
- c.*792G>A Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1016+290_1016+305dup Single submitter
- c.1017-301AC[5] Single submitter
- c.1017-302_1017-299del Single submitter
- c.1017-314T>A Single submitter
- c.105-266G>C Single submitter
- c.1187+254A>C Single submitter
- c.1188-60GT[15] Single submitter
- c.1420+15A>G Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.559+8C>T Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.850+309T>C Single submitter
- c.*5+251A>G Single submitter
- c.*822G>A Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Benign/Likely benign 5
- p.Arg288= Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Gln90= Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Lys473= Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ser286= Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ser375Cys Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Likely benign 98
- c.1017-18C>T Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1188-60GT[20] Multiple submitters
- c.1421-160G>C Multiple submitters
- c.1421-188C>A Multiple submitters
- c.560-43A>G Multiple submitters
- c.851-19T>C Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.*5+26G>C Multiple submitters
- p.Ala17= Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Gly339= Multiple submitters Inborn genetic diseases
- p.Leu445= Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Lys437= Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Thr271= Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Tyr297= Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Val238= Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1016+10C>T Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1016+149G>A Single submitter
- c.1016+19G>T Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1017-12G>A Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1017-300C>T Single submitter
- c.1017-316A>T Single submitter
- c.105-8C>T Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1187+122C>T Single submitter
- c.1187+170G>T Single submitter
- c.1187+7A>T Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1187+8C>A Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1188-179C>G Single submitter
- c.1188-17G>T Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1188-228G>A Single submitter
- c.1188-60GT[14] Single submitter
- c.1188-60GT[21] Single submitter
- c.1294+102C>G Single submitter
- c.1295-12T>C Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1420+13T>C Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1421-17T>C Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.1421-9A>C Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.559+13A>T Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.559+9G>A Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.559+9G>T Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.560-13T>C Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.560-296G>A Single submitter
- c.685+13C>G Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.685+18A>G Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.685+19C>T Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.685+76C>A Single submitter
- c.686-17T>C Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.850+17G>A Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.*233_*240del Single submitter
- c.*332A>C Single submitter
- c.*78A>G Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ala211= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ala225= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ala355= Single submitter
- p.Ala418= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ala45= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ala450= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ala65= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Arg116= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Arg274= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Arg448= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Asn475= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Asp122= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Asp293= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Asp53= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Gln13= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Gln466= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Glu128= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Gly340= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.His472= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Leu145= Single submitter
- p.Leu224= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Leu331= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Leu343= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Lys137= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Phe338= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Pro220= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Pro507= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Pro7= Single submitter
- p.Ser123= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ser248= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ser330= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ser360= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ser385= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ser456= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Thr131= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Thr133= Single submitter
- p.Tyr167= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Tyr262= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Tyr373= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Tyr387= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Val129= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Val18= Single submitter
- p.Val199= Single submitter
- p.Val42= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Val455= Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Asp496= No assertion criteria HMGCS2-related disorder
- p.Glu132= No assertion criteria HMGCS2-related disorder
- p.Pro201= No assertion criteria HMGCS2-related disorder
- p.Pro51= No assertion criteria HMGCS2-related disorder
Uncertain significance 137
- p.Ala215Val Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ala284Gly Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ala81Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg10Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg116Cys Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg116His Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg206His Multiple submitters Inborn genetic diseases
- p.Arg264Gln Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg264Trp Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg268Gln Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg314Cys Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg314His Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg35Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg3His Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg452Gln Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg505Gln Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg505Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg92Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg92His Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Asn178Ser Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Asn318Ser Multiple submitters HMGCS2-related disorder ⚠
- p.Asp122Asn Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Asp196His Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Asp287Asn Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Asp294Asn Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Asp365Glu Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Gly168Ser Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ile277Asn Multiple submitters Inborn genetic diseases
- p.Leu386Met Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Met298Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro120Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser371Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser385Thr Multiple submitters Inborn genetic diseases ⚠
- p.Thr376Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr442Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val199Ile Multiple submitters 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Val61Phe Multiple submitters Inborn genetic diseases ⚠
- c.105-3C>T Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.559+15G>A Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.559+5G>A Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.560-3C>T Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.-36T>G Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.*139C>A Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.*155C>T Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.*765G>A Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- c.*862G>A Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- p.Ala17Thr Single submitter Inborn genetic diseases ⚠
- p.Ala17Val Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ala198Val Single submitter Inborn genetic diseases ⚠
- p.Ala26Thr Single submitter Inborn genetic diseases ⚠
- p.Ala418Thr Single submitter Inborn genetic diseases ⚠
- p.Ala430Val Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg10Cys Single submitter Inborn genetic diseases ⚠
- p.Arg112Gln Single submitter Inborn genetic diseases ⚠
- p.Arg116Leu Single submitter Inborn genetic diseases ⚠
- p.Arg274Cys Single submitter Inborn genetic diseases ⚠
- p.Arg288Gln Single submitter Inborn genetic diseases ⚠
- p.Arg288Gly Single submitter Inborn genetic diseases ⚠
- p.Arg424Gln Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg494Gln Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Arg506Cys Single submitter Inborn genetic diseases ⚠
- p.Arg506His Single submitter Inborn genetic diseases ⚠
- p.Arg92Cys Single submitter ⚠
- p.Asn349Ser Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Asn378His Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Asn78Ser Single submitter Inborn genetic diseases ⚠
- p.Asp365Asn Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Asp53Gly Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Asp69Asn Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Cys194Gly Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Gln19Arg Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Gln296Pro Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Gln361Arg Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Gln469Glu Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Glu128Lys Single submitter Inborn genetic diseases ⚠
- p.Glu458Lys Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Gly232Val Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Gly339Arg Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Gly339Trp Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Gly340Arg Single submitter Inborn genetic diseases ⚠
- p.Gly82Glu Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.His234Arg Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.His396Gln Single submitter ⚠
- p.His472Arg Single submitter Inborn genetic diseases ⚠
- p.Ile117Val Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ile160Thr Single submitter Inborn genetic diseases ⚠
- p.Ile197Val Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ile252Val Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ile407Thr Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Leu12Gln Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Leu12Pro Single submitter ⚠
- p.Leu173Phe Single submitter Inborn genetic diseases ⚠
- p.Leu257Val Single submitter Inborn genetic diseases ⚠
- p.Leu266Ser Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Leu292Ile Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Leu341Ile Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Lys243Glu Single submitter ⚠
- p.Lys256Arg Single submitter Inborn genetic diseases ⚠
- p.Lys276Arg Single submitter Inborn genetic diseases ⚠
- p.Lys276Gln Single submitter Inborn genetic diseases ⚠
- p.Lys366Glu Single submitter Inborn genetic diseases ⚠
- p.Met180Ile Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Met235Ile Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Met235Lys Single submitter Inborn genetic diseases ⚠
- p.Met363Ile Single submitter Inborn genetic diseases ⚠
- p.Met381Arg Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Met93Ile Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Phe364Leu Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Phe421Cys Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Phe470Leu Single submitter Inborn genetic diseases ⚠
- p.Phe486Cys Single submitter Inborn genetic diseases ⚠
- p.Pro201Arg Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Pro507Thr Single submitter Inborn genetic diseases ⚠
- p.Ser138Pro Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ser183Gly Single submitter Inborn genetic diseases ⚠
- p.Ser202Asn Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ser248Leu Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ser272Pro Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ser325Gly Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ser360Ala Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ser40Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser419Asn Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ser440Phe Single submitter Inborn genetic diseases ⚠
- p.Ser484Ile Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Ser97Leu Single submitter Inborn genetic diseases ⚠
- p.Thr143Arg Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Thr348Asn Single submitter Inborn genetic diseases ⚠
- p.Thr442Arg Single submitter Inborn genetic diseases ⚠
- p.Thr49Ile Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Thr91Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr297His Single submitter Inborn genetic diseases ⚠
- p.Tyr373Ser Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Tyr76Cys Single submitter Inborn genetic diseases ⚠
- p.Val42Phe Single submitter ⚠
- p.Val439Ala Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Val61Gly Single submitter 3-hydroxy-3-methylglutaryl-CoA synthase deficiency ⚠
- p.Gly210Glu No assertion criteria HMGCS2-related disorder ⚠