CLPB — 840 ClinVar variants

All ClinVar germline CLPB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 411 flagged for review →

28 Pathogenic · 5 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 26 Conflicting · 28 Benign · 18 Benign/Likely benign · 289 Likely benign · 432 Uncertain significance

Full CLPB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 411

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 15

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

CLPB p.Arg531Gln Conflicting Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg531Trp Conflicting Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg598Cys Conflicting Single submitter
Inborn genetic diseases
CLPB p.Arg599Ser Conflicting Single submitter
Inborn genetic diseases
CLPB p.Asn180Asp Conflicting Single submitter
Inborn genetic diseases
CLPB p.Asn418Ser Conflicting Single submitter
Inborn genetic diseases
CLPB p.Glu303Gly Conflicting Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu383Lys Conflicting Single submitter
3-methylglutaconic aciduria, type VIIA
CLPB p.Gly71Trp Conflicting Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly93Asp Conflicting Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Leu83Phe Conflicting Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Met381Ile Conflicting Single submitter
Inborn genetic diseases
CLPB p.Phe63Leu Conflicting Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Thr238Met Conflicting Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Tyr537Cys Conflicting Single submitter
3-methylglutaconic aciduria, type VIIB

Predictors lean, ClinVar uncertain 234

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 234

CLPB p.Ala119Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Ala120Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Ala141Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Ala330Val Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala459Thr Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala61Val Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala68Thr Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg110Gly Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg143His Uncertain significance Multiple submitters
neutropenia, severe congenital, 9, autosomal dominant
CLPB p.Arg250Gly Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg332Gln Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg573His Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg649Cys Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg649His Uncertain significance Multiple submitters
CLPB-related disorder
CLPB p.Arg77Ser Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Cys116Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Gln296Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Gln499His Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Glu44Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Glu493Lys Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly218Ala Uncertain significance Multiple submitters
neutropenia, severe congenital, 9, autosomal dominant
CLPB p.Gly269Val Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly54Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Gly72Arg Uncertain significance Multiple submitters
neutropenia, severe congenital, 9, autosomal dominant
CLPB p.Gly93Ala Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.His164Arg Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.His388Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Ile454Thr Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Leu256Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Leu434Phe Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Leu668Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Lys204Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Met147Ile Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Met282Val Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Met368Thr Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Pro262Thr Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Pro431Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Pro646Arg Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Ser109Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Ser200Asn Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Ser633Gly Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Thr659Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Thr87Ser Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Trp104Cys Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Trp230Arg Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Trp239Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Val124Phe Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Val498Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Val596Ala Uncertain significance Multiple submitters
neutropenia, severe congenital, 9, autosomal dominant
CLPB p.Ala111Thr Uncertain significance Single submitter
CLPB p.Ala117Val Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala11Thr Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala136Thr Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala137Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala13Val Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala239Thr Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala325Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala32Val Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala330Gly Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala365Asp Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala468Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala473Thr Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala576Thr Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala589Thr Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala606Glu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala68Glu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala84Thr Uncertain significance Single submitter
CLPB p.Ala85Thr Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala86Thr Uncertain significance Single submitter
Inborn genetic diseases
CLPB p.Arg152Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg250His Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg250Leu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg277Gln Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg299Leu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg304Gln Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg304Trp Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg332Trp Uncertain significance Single submitter
Inborn genetic diseases
CLPB p.Arg378Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg525Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg573Pro Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg573Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg590Cys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg644His Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg644Leu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg665Gln Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg665Pro Uncertain significance Single submitter
CLPB p.Arg73Leu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg73Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg77Gly Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg77Pro Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asn180Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asn230Ile Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asn336Ser Uncertain significance Single submitter
Inborn genetic diseases
CLPB p.Asn36Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asn418His Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asn566Asp Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asn584Asp Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asn675Ile Uncertain significance Single submitter
CLPB p.Asp135Asn Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asp222Glu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asp222Gly Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asp497Asn Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asp577Glu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asp627His Uncertain significance Single submitter
CLPB p.Asp79Ala Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Cys237Gly Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Cys674Phe Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Cys674Tyr Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gln229His Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gln293His Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gln293Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gln499Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gln640His Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu254Ala Uncertain significance Single submitter
Inborn genetic diseases
CLPB p.Glu280Ala Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu303Val Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu335Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu44Ala Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu485Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu527Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu574Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly100Ala Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly114Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly210Arg Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly218Arg Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly259Glu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly30Arg Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly328Asp Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly395Glu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly402Ala Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly53Ala Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly53Arg Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly615Arg Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly615Val Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly65Arg Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly65Glu Uncertain significance Single submitter
Inborn genetic diseases
CLPB p.Gly71Glu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly75Arg Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly89Glu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.His125Arg Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIA
CLPB p.His125Asp Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.His164Pro Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.His225Gln Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.His241Leu Uncertain significance Single submitter
Inborn genetic diseases
CLPB p.His343Tyr Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.His594Arg Uncertain significance Single submitter
CLPB p.His669Gln Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ile176Thr Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ile226Val Uncertain significance Single submitter
CLPB p.Ile324Asn Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB

Predictors split 162

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 162

CLPB p.Ala117Ser Benign/Likely benign Multiple submitters
Inborn genetic diseases
CLPB p.Ala121Thr Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala232Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Ala323Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Ala323Thr Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala492Gly Likely benign Multiple submitters
Inborn genetic diseases
CLPB p.Ala492Ser Likely benign Multiple submitters
Inborn genetic diseases
CLPB p.Ala85Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Arg178Gln Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg224Trp Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg231His Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Arg250Cys Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIA
CLPB p.Arg297Trp Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg299Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Arg305His Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg306His Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Arg306Leu Uncertain significance Multiple submitters
CLPB p.Arg488Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Arg490His Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg516His Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg524Gln Benign/Likely benign Multiple submitters
Inborn genetic diseases
CLPB p.Arg524Trp Uncertain significance Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
CLPB p.Arg564Ser Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg599Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Arg620Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Arg620His Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Arg620Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Arg644Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Arg665Trp Benign/Likely benign Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Asn261Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Asn533Ser Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Asp340Asn Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Asp497Tyr Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Asp611Val Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Asp654Asn Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu302Gly Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly114Asp Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Ile547Thr Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Ile653Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Leu495Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Lys253Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Lys593Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Ser544Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Ser657Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CLPB p.Thr505Ile Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Thr568Met Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Thr87Ile Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Val550Ile Uncertain significance Multiple submitters
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala120Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala121Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala142Thr Uncertain significance Single submitter
Inborn genetic diseases
CLPB p.Ala232Pro Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala325Gly Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala325Thr Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala330Thr Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala459Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala476Glu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala558Thr Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala576Gly Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ala606Val Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg143Cys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg143Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg220Gln Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg227Met Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg265Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg27Trp Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg297Gln Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg299Cys Uncertain significance Single submitter
Inborn genetic diseases
CLPB p.Arg299His Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg305Cys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg306Cys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg312Gln Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg35Trp Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg387Gln Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg488His Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg490Cys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg516Cys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg55His Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg564Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg573Cys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg598His Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg599His Likely benign Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg660Cys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg660His Conflicting Single submitter
Inborn genetic diseases
CLPB p.Arg661Gly Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Arg90His Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asn145Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asn146Ser Uncertain significance Single submitter
Inborn genetic diseases
CLPB p.Asn179Thr Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asn261Ile Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asn266Ser Uncertain significance Single submitter
CLPB p.Asn336Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asn494Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asn584Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asp192Asn Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asp470Asn Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asp470Gly Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asp497His Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Asp581Asn Likely benign Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Cys416Phe Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gln548Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gln563Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu140Ala Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu278Gly Uncertain significance Single submitter
CLPB p.Glu302Ala Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu321Gly Uncertain significance Single submitter
Inborn genetic diseases
CLPB p.Glu342Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu405Val Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu471Asp Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu471Lys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Glu485Asp Uncertain significance Single submitter
Inborn genetic diseases
CLPB p.Glu512Lys Uncertain significance Single submitter
CLPB p.Glu624Gln Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly53Trp Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly582Ser Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly616Ala Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Gly616Ser Uncertain significance Single submitter
Inborn genetic diseases
CLPB p.His316Arg Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.His586Gln Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.His594Tyr Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ile317Val Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ile462Val Uncertain significance Single submitter
Inborn genetic diseases
CLPB p.Ile506Met Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ile518Leu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ile518Val Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ile652Asn Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Leu113Arg Uncertain significance Single submitter
CLPB p.Leu12Met Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Leu17Phe Uncertain significance Single submitter
Inborn genetic diseases
CLPB p.Leu242Phe Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Leu273Phe Conflicting Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Leu284Phe Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Leu2Val Uncertain significance Single submitter
CLPB p.Leu309Val Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Leu313Val Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Leu440Met Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIA
CLPB p.Leu612Arg Uncertain significance Single submitter
CLPB p.Lys374Gln Uncertain significance Single submitter
Inborn genetic diseases
CLPB p.Lys511Arg Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Lys559Asn Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Phe307Leu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Phe510Leu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Phe541Leu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Phe556Ile Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Phe556Leu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Pro14Leu Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ser213Cys Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ser501Arg Conflicting Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Ser544Trp Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB
CLPB p.Thr251Ala Uncertain significance Single submitter
3-methylglutaconic aciduria, type VIIB

All CLPB variants

Pathogenic 28

p.Arg178Ter Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Arg387Ter Multiple submitters neutropenia, severe congenital, 9, autosomal dominant
p.Gln264Ter Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Gly530Arg Multiple submitters microcytic anemia
c.1167+5G>T Single submitter 3-methylglutaconic aciduria, type VIIB
p.Arg220Ter Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asp432fs Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asp448fs Single submitter 3-methylglutaconic aciduria, type VIIB
p.Glu389Ter Single submitter Inborn genetic diseases
p.Gly65Ter Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu263fs Single submitter 3-methylglutaconic aciduria, type VIIB
p.Pro94fs Single submitter 3-methylglutaconic aciduria, type VIIB
p.Trp338Ter Single submitter
p.Tyr339Ter Single submitter 3-methylglutaconic aciduria, type VIIB
p.Val107fs Single submitter 3-methylglutaconic aciduria, type VIIB
p.Val150fs Single submitter neutropenia, severe congenital, 9, autosomal dominant
p.Val498fs Single submitter 3-methylglutaconic aciduria, type VIIB
c.1167+5G>A No assertion criteria neutropenia
p.Ala561Val No assertion criteria 3-methylglutaconic aciduria, type VIIB
p.Ala605Lys No assertion criteria 3-methylglutaconic aciduria, type VIIB
p.Arg531Gly No assertion criteria neutropenia, severe congenital, 9, autosomal dominant
p.Glu405_Gly406delinsAspPro No assertion criteria 3-methylglutaconic aciduria, type VIIB
p.Gly616Val No assertion criteria 3-methylglutaconic aciduria, type VIIB
p.Ile532fs No assertion criteria 3-methylglutaconic aciduria, type VIIB
p.Lys291Ter No assertion criteria 3-methylglutaconic aciduria, type VIIB
p.Pro397Leu No assertion criteria 3-methylglutaconic aciduria, type VIIB
p.Thr358Lys No assertion criteria neutropenia, severe congenital, 9, autosomal dominant
p.Tyr587Cys No assertion criteria 3-methylglutaconic aciduria, type VIIB

Pathogenic/Likely pathogenic 5

c.1066+1G>A Multiple submitters Inborn genetic diseases
c.873+1G>A Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Arg277Ter Multiple submitters
p.Arg312Ter Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Gln219fs Multiple submitters 3-methylglutaconic aciduria, type VIIB

Likely pathogenic 14

c.455+1G>A Multiple submitters 3-methylglutaconic aciduria, type VIIB
c.874-2A>G Multiple submitters 3-methylglutaconic aciduria, type VIIB
c.1123-2A>G Single submitter
c.1329+1G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.1560+2_1560+5del Single submitter 3-methylglutaconic aciduria, type VIIB
c.1681-1G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.543-1G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.775+1G>A Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gln499fs Single submitter 3-methylglutaconic aciduria, type VIIB
p.Glu208Ter Single submitter
p.Gly76fs Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ile567del Single submitter
p.Met172Leu Single submitter
p.Tyr242Cys Single submitter 3-methylglutaconic aciduria, type VIIB

Conflicting classifications of pathogenicity 26

c.736+2T>C Single submitter 3-methylglutaconic aciduria, type VIIB
p.Arg531Gln Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg531Trp Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg598Cys Single submitter Inborn genetic diseases ⚠
p.Arg599Ser Single submitter Inborn genetic diseases ⚠
p.Arg660His Single submitter Inborn genetic diseases ⚠
p.Asn180Asp Single submitter Inborn genetic diseases ⚠
p.Asn418Ser Single submitter Inborn genetic diseases ⚠
p.Asp380= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Glu235Ter Single submitter 3-methylglutaconic aciduria, type VIIB
p.Glu303Gly Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu383Lys Single submitter 3-methylglutaconic aciduria, type VIIA ⚠
p.Gly53= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gly71Trp Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly93Asp Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Leu273Phe Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Leu83Phe Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Met381Ile Single submitter Inborn genetic diseases ⚠
p.Phe63Leu Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ser501Arg Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Thr238Met Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Thr622Met Single submitter Inborn genetic diseases ⚠
p.Trp230Ter Single submitter 3-methylglutaconic aciduria, type VIIB
p.Tyr537Cys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Tyr537Phe Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Val601= Single submitter 3-methylglutaconic aciduria, type VIIB

Benign 28

c.1786-176C>T Multiple submitters
c.1786-55A>G Multiple submitters
c.646+97A>G Multiple submitters
c.776-62G>C Multiple submitters
c.988+145T>C Multiple submitters
c.-213C>T Multiple submitters
p.Arg620= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Glu280= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Glu512Val Multiple submitters 3-methylglutaconic aciduria, type VIIB
c.1067-174G>A Single submitter
c.1329+165T>C Single submitter
c.1330-285C>G Single submitter
c.1486+142G>A Single submitter
c.1487-248_1487-244del Single submitter
c.1487-251_1487-245dup Single submitter
c.1680+78CA[5] Single submitter
c.404-12dup Single submitter 3-methylglutaconic aciduria, type VIIB
c.456-135C>A Single submitter
c.456-4731G>T Single submitter
c.456-4751G>C Single submitter
c.456-4797C>T Single submitter
c.456-5456T>A Single submitter
c.543-290T>A Single submitter
c.646+188del Single submitter
c.646+6968T>C Single submitter
c.775+50T>G Single submitter
c.776-273C>T Single submitter
c.874-346A>G Single submitter

Benign/Likely benign 18

c.1122+16T>C Multiple submitters 3-methylglutaconic aciduria, type VIIB
c.404-16C>T Multiple submitters 3-methylglutaconic aciduria, type VIIB
c.776-10C>G Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Ala117Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg265Thr Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Arg332= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Arg524Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg665Trp Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn230= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Gly221Ser Multiple submitters Inborn genetic diseases
p.Gly406= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Leu17= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Leu48= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Leu645= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Pro45= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Ser223Asn Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Thr622= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Thr676Ala Multiple submitters 3-methylglutaconic aciduria, type VIIB

Likely benign 289

c.1067-50C>T Multiple submitters
c.1167+102G>T Multiple submitters
c.1560+11T>C Multiple submitters 3-methylglutaconic aciduria, type VIIB
c.1561-18_1561-12del Multiple submitters 3-methylglutaconic aciduria, type VIIB
c.1786-5G>A Multiple submitters 3-methylglutaconic aciduria, type VIIB
c.1786-6C>T Multiple submitters 3-methylglutaconic aciduria, type VIIB
c.404-63C>T Multiple submitters
c.455+134G>T Multiple submitters
c.543-12G>C Multiple submitters 3-methylglutaconic aciduria, type VIIB
c.776-5G>T Multiple submitters 3-methylglutaconic aciduria, type VIIB
c.874-12C>G Multiple submitters 3-methylglutaconic aciduria, type VIIB
c.874-7C>G Multiple submitters 3-methylglutaconic aciduria, type VIIB
c.-34C>T Multiple submitters
p.Ala429= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Ala476= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Ala492Cys Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Ala492Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala492Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg19= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Arg231= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Glu221= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Gly71Ala Multiple submitters Inborn genetic diseases
p.His241= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.His388= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.His475= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Leu83= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Lys207Glu Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Lys412= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Phe307= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Pro243= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Ser155= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Ser322= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Ser469= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Thr568= Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Tyr339= Multiple submitters 3-methylglutaconic aciduria, type VIIB
c.1066+13_1066+14insTGCT Single submitter
c.1066+9del Single submitter 3-methylglutaconic aciduria, type VIIB
c.1067-11T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.1067-20T>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.1067-20T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.1067-4C>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.1067-4C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.1067-9T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.1122+11G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.1122+16T>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.1123-13T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.1123-14T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.1123-18T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.1123-41C>G Single submitter
c.1167+10G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.1167+9T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.1168-15C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.1168-9T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.1329+12del Single submitter 3-methylglutaconic aciduria, type VIIB
c.1329+14G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.1329+50G>A Single submitter
c.1330-117C>G Single submitter
c.1330-122T>C Single submitter
c.1330-269G>A Single submitter
c.1486+7C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.1486+8G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.1486+92G>T Single submitter
c.1486+9G>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.1487-17_1487-16del Single submitter 3-methylglutaconic aciduria, type VIIB
c.1487-6C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.1487-9T>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.1560+19C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.1560+7G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.1561-12C>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.1561-18C>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.1561-19C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.1561-20C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.1561-7C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.1680+18A>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.1680+22G>A Single submitter
c.1680+7G>A Single submitter
c.1680+9G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.1681-14C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.1681-17T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.1785+13G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.1785+18A>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.1785+7A>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.1785+8C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.1786-106C>T Single submitter
c.1786-14C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.1786-22_1786-20del Single submitter
c.1786-7C>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.403+13T>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.403+14C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.403+15T>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.403+283C>A Single submitter
c.403+7_403+8del Single submitter 3-methylglutaconic aciduria, type VIIB
c.404-14C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.404-15C>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.404-17G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.404-17G>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.404-242C>G Single submitter
c.455+227del Single submitter
c.455+8G>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.456-14_456-13del Single submitter
c.456-299G>A Single submitter
c.456-4786C>G Single submitter
c.456-4818T>C Single submitter
c.456-4841G>A Single submitter
c.456-5108A>G Single submitter
c.542+13C>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.542+15T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.542+18A>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.542+8ACC[3] Single submitter 3-methylglutaconic aciduria, type VIIB
c.543-14G>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.543-20_543-18del Single submitter 3-methylglutaconic aciduria, type VIIB
c.543-289A>T Single submitter
c.646+13T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.646+14G>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.646+15T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.646+334A>G Single submitter
c.646+7247C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.646+7250C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.646+7257G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.646+7367del Single submitter 3-methylglutaconic aciduria, type VIIB
c.646+7369C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.646+7371C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.646+7372T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.646+7375A>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.646+7G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.647-10G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.647-5C>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.647-6C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.775+110C>T Single submitter
c.775+13G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.775+14T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.775+17A>G Single submitter
c.775+20A>G Single submitter
c.775+25T>G Single submitter
c.775+30T>G Single submitter
c.775+36_775+45del Single submitter
c.775+36A>G Single submitter
c.775+37A>G Single submitter
c.775+39T>G Single submitter
c.775+42A>G Single submitter
c.775+45A>G Single submitter
c.775+8_775+9del Single submitter
c.775+84G>T Single submitter
c.775+8C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.776-10_776-8del Single submitter 3-methylglutaconic aciduria, type VIIB
c.776-10C>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.776-13C>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.776-17C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.873+12G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.873+15_873+22del Single submitter
c.873+16G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.873+51_873+62del Single submitter
c.873+68_873+69insATG Single submitter
c.873+7C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.874-10C>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.988+14A>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.988+16A>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.988+307C>T Single submitter
c.989-108G>A Single submitter
c.989-4G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.989-5C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.-26A>T Single submitter
c.*173G>C Single submitter
c.*255C>A Single submitter
c.*65A>G Single submitter
p.Ala13= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ala191= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ala222= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ala260= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ala32= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ala330= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ala365= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ala492= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ala605= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ala61= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Arg224Gln Single submitter 3-methylglutaconic aciduria, type VIIB
p.Arg265= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Arg299= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Arg35= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Arg378= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Arg378Trp Single submitter 3-methylglutaconic aciduria, type VIIB
p.Arg480= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Arg516= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Arg599His Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg665= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Arg90= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asn105= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asn177= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asn194= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asn466= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asn489= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asn566= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asn675Ser Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asp220= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asp223= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asp257= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asp458= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asp470= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asp581= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asp581Asn Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asp611= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Asp656= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Cys126= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Cys82= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gln101= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gln311= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gln415= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gln46= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gln548= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gln640= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Glu149= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Glu235= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Glu303= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Glu321= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Glu425= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Glu527= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gly112= Single submitter
p.Gly279= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gly3= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gly351= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gly399= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gly451= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gly588= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gly71= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gly72= Single submitter 3-methylglutaconic aciduria, type VIIB
p.His125= Single submitter 3-methylglutaconic aciduria, type VIIB
p.His225= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ile176= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ile218= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ile318= Single submitter
p.Ile324= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ile454= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ile472= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ile535= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ile653= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu118= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu12= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu171= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu187= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu20= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu217= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu273= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu345= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu379= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu438= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu440= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu477= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu5= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu519= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu549= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu570= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu604= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu612= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu630= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu636= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Leu98= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Lys253= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Lys283= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Lys314= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Lys457= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Phe349= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Phe541= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Pro131= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Pro272= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Pro431= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Pro540= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Pro60= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Pro634= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Pro637= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Pro94= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ser33= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ser382= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ser487= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ser59= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Thr231= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Thr238= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Thr38= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Thr410= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Thr464= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Thr676= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Thr87= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Val123= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Val150= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Val185= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Val281= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Val433= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Val514= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Val580= Single submitter 3-methylglutaconic aciduria, type VIIB
c.1785+5G>A No assertion criteria CLPB-related disorder

Uncertain significance 432

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala119Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala120Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala121Thr Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala141Val Multiple submitters Inborn genetic diseases ⚠
p.Ala232Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala323Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala323Thr Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala330Val Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala459Thr Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala61Val Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala68Thr Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala85Val Multiple submitters Inborn genetic diseases ⚠
p.Arg110Gly Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg143His Multiple submitters neutropenia, severe congenital, 9, autosomal dominant ⚠
p.Arg178Gln Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg224Trp Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg231His Multiple submitters Inborn genetic diseases ⚠
p.Arg250Cys Multiple submitters 3-methylglutaconic aciduria, type VIIA ⚠
p.Arg250Gly Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg297Trp Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg299Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg305His Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg306His Multiple submitters Inborn genetic diseases ⚠
p.Arg306Leu Multiple submitters ⚠
p.Arg332Gln Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg488Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg490His Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg516His Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg524Trp Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
p.Arg564Ser Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg573His Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg599Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg620Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg620His Multiple submitters Inborn genetic diseases ⚠
p.Arg620Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg644Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg649Cys Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg649His Multiple submitters CLPB-related disorder ⚠
p.Arg77Ser Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn261Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn533Ser Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn675fs Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Asp340Asn Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Asp497Tyr Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Asp611Val Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Asp654Asn Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Cys116Ser Multiple submitters Inborn genetic diseases ⚠
p.Gln296Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln499His Multiple submitters Inborn genetic diseases ⚠
p.Glu302Gly Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu44Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu493Lys Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu624del Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Gly114Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly218Ala Multiple submitters neutropenia, severe congenital, 9, autosomal dominant ⚠
p.Gly269Val Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly54Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly72Arg Multiple submitters neutropenia, severe congenital, 9, autosomal dominant ⚠
p.Gly93Ala Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.His164Arg Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.His388Gln Multiple submitters Inborn genetic diseases ⚠
p.Ile454Thr Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Ile547Thr Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Ile653Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu256Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu434Phe Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Leu495Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu668Val Multiple submitters Inborn genetic diseases ⚠
p.Lys204Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys253Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys593Gln Multiple submitters Inborn genetic diseases ⚠
p.Met147Ile Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Met1Thr Multiple submitters 3-methylglutaconic aciduria, type VIIB
p.Met282Val Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Met368Thr Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Pro262Thr Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Pro431Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro646Arg Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Ser109Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser200Asn Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Ser544Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser633Gly Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Ser657Cys Multiple submitters Inborn genetic diseases ⚠
p.Thr505Ile Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Thr568Met Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Thr659Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr87Ile Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Thr87Ser Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Trp104Cys Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Trp230Arg Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Trp239Arg Multiple submitters Inborn genetic diseases ⚠
p.Val124Phe Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Val498Ile Multiple submitters Inborn genetic diseases ⚠
p.Val550Ile Multiple submitters 3-methylglutaconic aciduria, type VIIB ⚠
p.Val596Ala Multiple submitters neutropenia, severe congenital, 9, autosomal dominant ⚠
c.1067-3T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.1123-3C>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.1123-3C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.1167+3G>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.1167+6T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.1168-3C>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.1329+9_1329+10inv Single submitter 3-methylglutaconic aciduria, type VIIB
c.1486+6del Single submitter 3-methylglutaconic aciduria, type VIIA
c.1486+6G>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.1560+6A>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.1561-11_1561-10delinsCT Single submitter 3-methylglutaconic aciduria, type VIIB
c.1561-13C>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.1680+2dup Single submitter 3-methylglutaconic aciduria, type VIIB
c.1680+6A>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.1681-3C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.1786-3C>T Single submitter 3-methylglutaconic aciduria, type VIIB
c.403+4A>G Single submitter CLPB-related disorder
c.403+6T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.456-3T>A Single submitter 3-methylglutaconic aciduria, type VIIB
c.456-5081_456-5079del Single submitter
c.456-5110G>C Single submitter CLPB-related disorder
c.456-5139C>T Single submitter
c.456-5T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.456-99GCCATACACTGAAAATATTCCTCTGTCTTGTTTTAGGCTGTTGTCAGAAGGTGCAGATGTCAA[4] Single submitter 3-methylglutaconic aciduria, type VIIB
c.646+3A>G Single submitter 3-methylglutaconic aciduria, type VIIB
c.646+6T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.646+7359A>G Single submitter
c.989-860T>C Single submitter 3-methylglutaconic aciduria, type VIIB
c.-3A>G Single submitter
p.Ala11= Single submitter
p.Ala111Thr Single submitter ⚠
p.Ala117Val Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala119Ser Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ala11Thr Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala120Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala121Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala136Thr Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala137Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala13Val Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala142Thr Single submitter Inborn genetic diseases ⚠
p.Ala232Pro Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala239Thr Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala325Gly Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala325Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala325Thr Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala32Val Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala330Gly Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala330Thr Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala365Asp Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala459Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala468Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala473Thr Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala476Glu Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala558Thr Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala576Gly Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala576Thr Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala589Thr Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala606Glu Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala606Val Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala68Glu Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala84Thr Single submitter ⚠
p.Ala85Thr Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ala86_Thr87del Single submitter 3-methylglutaconic aciduria, type VIIB
p.Ala86Thr Single submitter Inborn genetic diseases ⚠
p.Arg143Cys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg143Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg152Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg220Gln Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg227Met Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg250His Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg250Leu Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg265Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg277Gln Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg27Trp Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg297Gln Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg299Cys Single submitter Inborn genetic diseases ⚠
p.Arg299His Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg299Leu Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg304Gln Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg304Trp Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg305Cys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg306Cys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg312Gln Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg332Trp Single submitter Inborn genetic diseases ⚠
p.Arg35Trp Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg378Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg387Gln Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg488His Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg490Cys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg516Cys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg525Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg55His Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg564Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg573Cys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg573Pro Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg573Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg590Cys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg598His Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg644His Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg644Leu Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg660Cys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg661Gly Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg665Gln Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg665Pro Single submitter ⚠
p.Arg73Leu Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg73Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg77Gly Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg77Pro Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Arg90His Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn145Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn146Ser Single submitter Inborn genetic diseases ⚠
p.Asn179Thr Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn180Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn230Ile Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn261Ile Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn266Ser Single submitter ⚠
p.Asn336Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn336Ser Single submitter Inborn genetic diseases ⚠
p.Asn36Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn418His Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn494Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn566Asp Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn566del Single submitter
p.Asn584Asp Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn584Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asn675Ile Single submitter ⚠
p.Asp135Asn Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asp192Asn Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asp222Glu Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asp222Gly Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asp470Asn Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asp470Gly Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asp497Asn Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asp497His Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asp577Glu Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Asp627His Single submitter ⚠
p.Asp79Ala Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Cys237Gly Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Cys416Phe Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Cys674Phe Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Cys674Tyr Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gln229His Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gln293His Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gln293Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gln499Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gln548Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gln563Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gln640His Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu140Ala Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu254Ala Single submitter Inborn genetic diseases ⚠
p.Glu254Ser Single submitter 3-methylglutaconic aciduria, type VIIB
p.Glu278Gly Single submitter ⚠
p.Glu280Ala Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu302Ala Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu303Val Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu321Gly Single submitter Inborn genetic diseases ⚠
p.Glu335Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu342Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu405Val Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu44Ala Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu471Asp Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu471Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu485Asp Single submitter Inborn genetic diseases ⚠
p.Glu485Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu512Lys Single submitter ⚠
p.Glu527Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu574Lys Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu624Gln Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Glu671Ter Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gly100Ala Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly114Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly210Arg Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly218Arg Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly245= Single submitter 3-methylglutaconic aciduria, type VIIB
p.Gly259Glu Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly30Arg Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly328Asp Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly395Glu Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly402Ala Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly496Val Single submitter
p.Gly53Ala Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly53Arg Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly53Trp Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly582Ser Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly615Arg Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly615Val Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly616Ala Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly616Ser Single submitter Inborn genetic diseases ⚠
p.Gly65Arg Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly65Glu Single submitter Inborn genetic diseases ⚠
p.Gly71Glu Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly75Arg Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Gly89Glu Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.His125Arg Single submitter 3-methylglutaconic aciduria, type VIIA ⚠
p.His125Asp Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.His164Pro Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.His225Gln Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.His241Leu Single submitter Inborn genetic diseases ⚠
p.His316Arg Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.His343Tyr Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.His586Gln Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.His594Arg Single submitter ⚠
p.His594Tyr Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.His669Gln Single submitter 3-methylglutaconic aciduria, type VIIB ⚠
p.Ile176Thr Single submitter 3-methylglutaconic aciduria, type VIIB ⚠