HMGCL — 523 ClinVar variants

All ClinVar germline HMGCL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →

34 Pathogenic · 18 Pathogenic/Likely pathogenic · 45 Likely pathogenic · 12 Conflicting · 8 Benign · 6 Benign/Likely benign · 246 Likely benign · 154 Uncertain significance

Full HMGCL 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 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

HMGCL p.Glu145Val Likely pathogenic Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HMGCL p.Lys48Asn Pathogenic Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Tyr167Asn Pathogenic Single submitter
3-hydroxy-3-methylglutaric aciduria

Predictors agree, ClinVar conflicts 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

HMGCL p.Ala152Thr Conflicting Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Arg165Gln Conflicting Single submitter
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HMGCL p.Arg165Trp Conflicting Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Asn161Ser Conflicting Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Asn275Lys Conflicting Single submitter
3-hydroxy-3-methylglutaric aciduria

Predictors lean, ClinVar uncertain 85

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

HMGCL p.Ala269Thr Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ala7Gly Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ala7Val Uncertain significance Multiple submitters
Inborn genetic diseases
HMGCL p.Arg19Pro Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Asn311Asp Uncertain significance Multiple submitters
Inborn genetic diseases
HMGCL p.Gly14Val Uncertain significance Multiple submitters
Inborn genetic diseases
HMGCL p.Gly178Arg Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Gly203Glu Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Gly274Arg Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.His235Arg Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Leu300Pro Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Lys6Glu Uncertain significance Multiple submitters
Inborn genetic diseases
HMGCL p.Met217Ile Uncertain significance Multiple submitters
Inborn genetic diseases
HMGCL p.Met4Ile Uncertain significance Multiple submitters
Inborn genetic diseases
HMGCL p.Met85Thr Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Pro30Leu Uncertain significance Multiple submitters
Inborn genetic diseases
HMGCL p.Ser131Leu Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Thr205Ser Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Thr245Ile Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Val168Ile Uncertain significance Multiple submitters
Inborn genetic diseases
HMGCL p.Val36Leu Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Val70Leu Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Val82Ile Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ala116Val Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ala157Val Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ala160Pro Uncertain significance Single submitter
Inborn genetic diseases
HMGCL p.Ala241Thr Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ala269Val Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ala2Val Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ala321Asp Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ala3Val Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Arg10Trp Uncertain significance Single submitter
Inborn genetic diseases
HMGCL p.Arg32Trp Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Arg5Ser Uncertain significance Single submitter
Inborn genetic diseases
HMGCL p.Asn275Ser Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Asn311Lys Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Asn49Asp Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Asp61His Uncertain significance Single submitter
HMGCL p.Cys307Tyr Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Gln158Glu Uncertain significance Single submitter
HMGCL p.Gly14Arg Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Gly14Cys Uncertain significance Single submitter
Inborn genetic diseases
HMGCL p.Gly166Val Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Gly265Ser Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Gly271Arg Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Gly287Asp Uncertain significance Single submitter
Inborn genetic diseases
HMGCL p.Gly43Arg Uncertain significance Single submitter
Inborn genetic diseases
HMGCL p.Ile180Asn Uncertain significance Single submitter
Inborn genetic diseases
HMGCL p.Ile71Thr Uncertain significance Single submitter
HMGCL p.Leu154Met Uncertain significance Single submitter
Inborn genetic diseases
HMGCL p.Leu281Val Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Leu63Phe Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Lys58Arg Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Lys6Arg Uncertain significance Single submitter
Inborn genetic diseases
HMGCL p.Met247Leu Uncertain significance Single submitter
HMGCL p.Met26Leu Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Met62Leu Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Pro108Leu Uncertain significance Single submitter
HMGCL p.Pro108Ser Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Pro175Leu Uncertain significance Single submitter
Inborn genetic diseases
HMGCL p.Pro267Arg Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Pro267His Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Pro267Ser Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Pro54Ala Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Pro9Leu Uncertain significance Single submitter
Inborn genetic diseases
HMGCL p.Ser146Asn Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ser254Gly Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ser258Phe Uncertain significance Single submitter
HMGCL p.Ser78Phe Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Thr189Pro Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Thr210Ile Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Thr245Pro Uncertain significance Single submitter
HMGCL p.Val125Gly Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Val188Gly Uncertain significance Single submitter
Inborn genetic diseases
HMGCL p.Val38Phe Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Val51Ile Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ala20Val Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HMGCL p.Ala309Pro Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HMGCL p.Gly166Trp Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HMGCL p.Gly239Cys Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HMGCL p.Gly39Asp Uncertain significance No assertion criteria
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ile50Val Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HMGCL p.Met26Ile Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HMGCL p.Met85Lys Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HMGCL p.Tyr283Asn Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Predictors split 33

The independent predictors disagree with each other — read with care.

HMGCL p.Asn140Ser Uncertain significance Multiple submitters
Inborn genetic diseases
HMGCL p.Asp61Gly Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Glu114Lys Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Glu199Gln Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ile143Thr Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Leu263Ile Uncertain significance Multiple submitters
Inborn genetic diseases
HMGCL p.Lys317Arg Uncertain significance Multiple submitters
Inborn genetic diseases
HMGCL p.Met195Val Uncertain significance Multiple submitters
Inborn genetic diseases
HMGCL p.Met62Val Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Thr245Ser Uncertain significance Multiple submitters
Inborn genetic diseases
HMGCL p.Tyr198Cys Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Tyr238Cys Uncertain significance Multiple submitters
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ala129Gly Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ala229Asp Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ala229Ser Uncertain significance Single submitter
Inborn genetic diseases
HMGCL p.Ala229Thr Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ala248Val Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ala272Ser Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Arg149Lys Uncertain significance Single submitter
Inborn genetic diseases
HMGCL p.Gly289Asp Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Gly293Ala Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ile180Met Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ile206Thr Uncertain significance Single submitter
Inborn genetic diseases
HMGCL p.Lys111Glu Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Lys137Glu Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Met217Val Conflicting Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ser146Gly Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ser315Arg Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Thr292Met Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Val221Ile Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Val256Met Uncertain significance Single submitter
3-hydroxy-3-methylglutaric aciduria
HMGCL p.Ile60Thr Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HMGCL p.Thr53Ala Uncertain significance No assertion criteria
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

All HMGCL variants

Pathogenic 34

c.876+1G>C Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Arg10fs Multiple submitters HMGCL-related disorders
p.Arg11Ter Multiple submitters Inborn genetic diseases
p.Arg41Gln Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Gln96Ter Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Glu37Ter Multiple submitters Inborn genetic diseases
p.Ser169fs Multiple submitters Inborn genetic diseases
p.Ser69fs Multiple submitters HMGCL-related disorders
p.Thr107fs Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Val125fs Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.253-2A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.497+1dup Single submitter 3-hydroxy-3-methylglutaric aciduria
c.874_876+31del Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala130_Ser131insTer Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala220fs Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala231_His233del Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Asp257fs Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gln158_Ser159insTer Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gln45Ter Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gln84Ter Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Glu279Ter Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ile162fs Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ile60fs Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu242fs Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu288Ter Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Lys136fs Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Lys179fs Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Lys48Asn Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Pro182fs Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ser24Ter Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Thr292fs Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Trp81Ter Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Tyr167Asn Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Val70fs Single submitter 3-hydroxy-3-methylglutaric aciduria

Pathogenic/Likely pathogenic 18

c.349_361del Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.562-1G>A Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Ala160fs Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Arg41Ter Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Asn46fs Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Asp204fs Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Asp236fs Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Cys174Tyr Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Gln96fs Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Glu37Lys Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Gly289fs Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.His233Arg Multiple submitters HMGCL-related disorder
p.Met284_Leu285insTer Multiple submitters HMGCL-related disorder
p.Phe305fs Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ser201Tyr Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Tyr167Ter Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Val208fs Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Val77fs Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Likely pathogenic 45

c.144+1G>A Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.348+1G>C Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.497+1G>A Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.497+4A>G Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.562-2A>G Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Asp42Asn Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Asp42Gly Multiple submitters long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ser75Arg Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.144+2T>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.145-1G>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.252+1G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.252+1G>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.348+1G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.48_60+289del Single submitter 3-hydroxy-3-methylglutaric aciduria
c.561+1G>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.60_60+18del Single submitter 3-hydroxy-3-methylglutaric aciduria
c.60+1G>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.61-1G>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.61-2A>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.750+2T>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.751-1G>T Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.877-1G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.877-2A>G Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Asn244fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Asp42His Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Cys266Arg Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gln240Ter Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Glu145Val Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Glu279Lys Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Leu92fs Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu92Ter Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Lys111Ter Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Phe76Leu Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ser142Phe Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ter326SerextTer? Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Tyr103fs Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Tyr198Ter Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Tyr238Ter Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Tyr268Ter Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Val36fs Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.60+1G>T No assertion criteria 3-hydroxy-3-methylglutaric aciduria
p.Arg41fs No assertion criteria 3-hydroxy-3-methylglutaric aciduria
p.Asn138fs No assertion criteria 3-hydroxy-3-methylglutaric aciduria
p.Met1Ile No assertion criteria 3-hydroxy-3-methylglutaric aciduria
p.Tyr176Ter No assertion criteria 3-hydroxy-3-methylglutaric aciduria

Conflicting classifications of pathogenicity 12

c.145-5T>A Single submitter Inborn genetic diseases
c.750+14T>A Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala152Thr Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Arg165Gln Single submitter long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Arg165Trp Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Asn161Ser Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Asn275Lys Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Asp236= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gln240= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Met217Val Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Thr210= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Tyr167= Single submitter 3-hydroxy-3-methylglutaric aciduria

Benign 8

c.252+34T>C Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.750+163G>A Multiple submitters
c.877-72T>C Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.-91G>T Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.*486G>A Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.349-183G>A Single submitter
c.876+18C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.876+18del Single submitter 3-hydroxy-3-methylglutaric aciduria

Benign/Likely benign 6

c.497+19G>A Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.61-17C>T Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Gln148Arg Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Ser131= Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Tyr198= Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Val125= Multiple submitters 3-hydroxy-3-methylglutaric aciduria

Likely benign 246

c.145-13C>T Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.145-8C>T Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.497+24C>A Multiple submitters
c.498-10C>A Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.498-162G>C Multiple submitters
c.561+13G>A Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.-59A>C Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.*194C>G Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Ala115= Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Leu202= Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Thr28= Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Tyr176= Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Val221= Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.144+13A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.144+15G>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.144+16A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.144+18C>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.144+20A>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.144+8T>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.145-11C>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.145-16TC[3] Single submitter 3-hydroxy-3-methylglutaric aciduria
c.145-19G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.145-295G>T Single submitter
c.145-329G>A Single submitter
c.145-4A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.145-6C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.145-7A>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.145-7A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.145-9C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.252+10A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.252+10A>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.252+12C>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.252+14C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.252+17A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.252+18A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.252+19T>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.252+335T>C Single submitter
c.252+8C>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.253-12C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.253-18G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.253-5C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.253-7T>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.348+13C>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.348+14T>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.348+17_348+19del Single submitter 3-hydroxy-3-methylglutaric aciduria
c.348+20G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.348+7_348+9dup Single submitter 3-hydroxy-3-methylglutaric aciduria
c.348+7G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.349-10A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.349-10A>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.349-15C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.349-17C>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.349-19T>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.349-4G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.349-8G>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.497+10A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.497+13A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.497+164C>T Single submitter
c.497+20T>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.497+210G>T Single submitter
c.498-12G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.498-12G>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.498-14_498-13del Single submitter 3-hydroxy-3-methylglutaric aciduria
c.498-15C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.498-16C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.498-7C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.561+15C>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.561+169_561+177del Single submitter
c.561+19G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.561+20_561+23del Single submitter 3-hydroxy-3-methylglutaric aciduria
c.561+20C>G Single submitter
c.561+20C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.561+7G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.561+7G>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.561+8C>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.561+9A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.562-12T>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.562-14G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.562-14G>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.562-16C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.562-18G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.562-20G>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.562-239G>A Single submitter
c.562-8T>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.60+10C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.60+12G>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.60+18C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.60+20G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.60+7G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.60+7G>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.60+7G>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.60+8C>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.61-11T>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.61-13T>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.61-14C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.61-16C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.61-4A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.750+14del Single submitter 3-hydroxy-3-methylglutaric aciduria
c.750+14T>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.750+151G>A Single submitter
c.750+18C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.750+19C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.750+241C>T Single submitter
c.750+55_750+57del Single submitter
c.750+8A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.751-10A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.751-11T>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.751-12T>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.751-13C>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.751-15T>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.751-17C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.751-4C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.751-7T>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.751-8G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.751-9T>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.876+14C>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.876+17C>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.876+19del Single submitter 3-hydroxy-3-methylglutaric aciduria
c.876+20G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.876+274CAAAA[2] Single submitter
c.876+5_876+8dup Single submitter 3-hydroxy-3-methylglutaric aciduria
c.876+78G>T Single submitter
c.876+7C>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.876+9A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.877-11G>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.877-16A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.877-17dup Single submitter 3-hydroxy-3-methylglutaric aciduria
c.877-17T>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.877-319T>C Single submitter
c.877-7C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.-13A>G Single submitter
c.*289G>T Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala119= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala130= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala152= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala156= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala157= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala16= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala171= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala183= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala186= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala2= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala229= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala272= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala7= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Arg10= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Arg11= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Arg41= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Asn138= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Asn244= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Asn275= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Asn311= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Asp151= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Asp257= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Asp280= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Asp61= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Cys141= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Cys307= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Cys323= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gln270= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gln320= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Glu199= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Glu286= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Glu47= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Glu65= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gly112= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gly120= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gly14= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gly173= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gly207= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gly209= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gly212= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gly239= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gly265= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gly303= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Gly67= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.His233= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ile126= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ile306= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ile50= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ile57= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu12= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu133= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu154= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu18= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu218= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu242= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu246= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu249= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu276= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu281= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu288= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu296= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu299= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu44= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu59= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu63= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu8= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Leu92= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Lys136= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Lys137= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Lys298= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Lys31= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Lys34= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Lys56= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Lys58= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Met26Val Single submitter Inborn genetic diseases
p.Phe113= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Phe134= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Phe147= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Phe305= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Pro108= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Pro267= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Pro30= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Pro9= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ser159= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ser17= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ser219= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ser24= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ser254= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ser258= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ser75= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ter326= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Thr107= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Thr135= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Thr237= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Thr245= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Thr314= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Thr322= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Thr53= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Thr89Ala Single submitter Inborn genetic diseases
p.Tyr238= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Tyr268= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Tyr283= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Val105= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Val188= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Val208= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Val225= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Val253= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Val255= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Val282= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Val294= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Val36= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Val51= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Val55= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Val77= Single submitter 3-hydroxy-3-methylglutaric aciduria

Uncertain significance 154

c.349-3C>A Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.497+3G>A Multiple submitters 3-hydroxy-3-methylglutaric aciduria
c.*104G>A Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Ala116= Multiple submitters 3-hydroxy-3-methylglutaric aciduria
p.Ala269Thr Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ala7Gly Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ala7Val Multiple submitters Inborn genetic diseases ⚠
p.Arg19Pro Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Asn140Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn311Asp Multiple submitters Inborn genetic diseases ⚠
p.Asp61Gly Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Glu114Lys Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Glu199Gln Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Gly14Val Multiple submitters Inborn genetic diseases ⚠
p.Gly178Arg Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Gly203Glu Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Gly274Arg Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.His235Arg Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ile143Thr Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Leu263Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu300Pro Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Lys317Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys6Glu Multiple submitters Inborn genetic diseases ⚠
p.Met195Val Multiple submitters Inborn genetic diseases ⚠
p.Met217Ile Multiple submitters Inborn genetic diseases ⚠
p.Met4Ile Multiple submitters Inborn genetic diseases ⚠
p.Met62Val Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Met85Thr Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Pro30Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser131Leu Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Thr205Ser Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Thr245Ile Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Thr245Ser Multiple submitters Inborn genetic diseases ⚠
p.Tyr198Cys Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Tyr238Cys Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Val168Ile Multiple submitters Inborn genetic diseases ⚠
p.Val36Leu Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Val70Leu Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
p.Val82Ile Multiple submitters 3-hydroxy-3-methylglutaric aciduria ⚠
c.144+4A>G Single submitter 3-hydroxy-3-methylglutaric aciduria
c.562-3T>G Single submitter
c.60+5G>A Single submitter HMGCL-related disorder
c.60+6T>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.750+6C>T Single submitter 3-hydroxy-3-methylglutaric aciduria
c.751-10_751-9del Single submitter 3-hydroxy-3-methylglutaric aciduria
c.751-3T>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.*290T>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.*338G>C Single submitter 3-hydroxy-3-methylglutaric aciduria
c.*366G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.*388G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
c.*414G>A Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Ala116Val Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ala129Gly Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ala157Val Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ala160Pro Single submitter Inborn genetic diseases ⚠
p.Ala229Asp Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ala229Ser Single submitter Inborn genetic diseases ⚠
p.Ala229Thr Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ala241Thr Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ala248Val Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ala269Val Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ala272Ser Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ala2Val Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ala321Asp Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ala3Val Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Arg10Trp Single submitter Inborn genetic diseases ⚠
p.Arg149Lys Single submitter Inborn genetic diseases ⚠
p.Arg32Trp Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Arg5Ser Single submitter Inborn genetic diseases ⚠
p.Asn275Ser Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Asn311Lys Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Asn49Asp Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Asp61His Single submitter ⚠
p.Cys307Tyr Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Gln158Glu Single submitter ⚠
p.Gly14Arg Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Gly14Cys Single submitter Inborn genetic diseases ⚠
p.Gly166Val Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Gly265Ser Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Gly271Arg Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Gly287Asp Single submitter Inborn genetic diseases ⚠
p.Gly289Asp Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Gly293Ala Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Gly43Arg Single submitter Inborn genetic diseases ⚠
p.Ile180Asn Single submitter Inborn genetic diseases ⚠
p.Ile180Met Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ile206Thr Single submitter Inborn genetic diseases ⚠
p.Ile71Thr Single submitter ⚠
p.Leu154Met Single submitter Inborn genetic diseases ⚠
p.Leu230_Val232del Single submitter
p.Leu281Val Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Leu63Phe Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Lys111Glu Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Lys137Asn Single submitter
p.Lys137Glu Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Lys317fs Single submitter
p.Lys58Arg Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Lys6Arg Single submitter Inborn genetic diseases ⚠
p.Met1Thr Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Met247Leu Single submitter ⚠
p.Met26Leu Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Met62Leu Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Phe98Leu Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Pro108Leu Single submitter ⚠
p.Pro108Ser Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Pro175Leu Single submitter Inborn genetic diseases ⚠
p.Pro267Arg Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Pro267His Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Pro267Ser Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Pro54Ala Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Pro9Leu Single submitter Inborn genetic diseases ⚠
p.Ser146Asn Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ser146Gly Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ser254Gly Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ser258Phe Single submitter ⚠
p.Ser315Arg Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ser78Phe Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Thr189Pro Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Thr210Ile Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Thr245Pro Single submitter ⚠
p.Thr292= Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Thr292Met Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Thr73Asn Single submitter 3-hydroxy-3-methylglutaric aciduria
p.Tyr176_Ala183del Single submitter HMGCL-related disorder
p.Val125Gly Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Val188Gly Single submitter Inborn genetic diseases ⚠
p.Val221Ile Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Val256Met Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Val38Phe Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
p.Val51Ile Single submitter 3-hydroxy-3-methylglutaric aciduria ⚠
c.348+9A>C No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
c.60+4A>C No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala118= No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ala20Val No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ala229_Ala231dup No assertion criteria 3-hydroxy-3-methylglutaric aciduria
p.Ala309Pro No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gln320Ter No assertion criteria 3-hydroxy-3-methylglutaric aciduria
p.Gly166Trp No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gly239Cys No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Gly39Asp No assertion criteria 3-hydroxy-3-methylglutaric aciduria ⚠
p.Ile101= No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ile50Val No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Ile60Thr No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Met26Ile No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Met85Lys No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Phe192Leu No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Pro83= No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ser254Arg No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Ter326Arg No assertion criteria 3-hydroxy-3-methylglutaric aciduria
p.Ter326Ser No assertion criteria 3-hydroxy-3-methylglutaric aciduria
p.Thr135Ile No assertion criteria 3-hydroxy-3-methylglutaric aciduria
p.Thr53Ala No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠
p.Thr74= No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
p.Tyr283Asn No assertion criteria long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ⚠