ACAT1 — 762 ClinVar variants
All ClinVar germline ACAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →
79 Pathogenic · 55 Pathogenic/Likely pathogenic · 73 Likely pathogenic · 34 Conflicting · 57 Benign · 2 Benign/Likely benign · 301 Likely benign · 161 Uncertain significance
Full ACAT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 152
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ACAT1 p.Asn158Ser
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
ACAT1 p.Thr297Met
Pathogenic/Likely pathogenic
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Ala132Gly
Likely pathogenic
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Asn93Ser
Likely pathogenic
Single submitter
beta-ketothiolase deficiency
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ACAT1 p.Arg208Gln
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Glu255Asp
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Gly100Glu
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Gly418Asp
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Gly68Val
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ile323Val
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ile327Val
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ser284Asn
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Thr277Pro
Conflicting
Single submitter
beta-ketothiolase deficiency
Predictors lean, ClinVar uncertain 65
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ACAT1 p.Ala12Thr
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Gln101Lys
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.His192Arg
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.His400Tyr
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Leu67Arg
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Met141Leu
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Thr241Ala
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Thr285Ile
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Tyr256Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAT1 p.Val248Ile
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Val29Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAT1 p.Val86Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAT1 p.Ala132Pro
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ala224Pro
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ala328Val
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ala401Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Arg15Cys
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Arg208Gly
Uncertain significance
Single submitter
beta-ketothiolase deficiency
- ACAT1 p.Asn287Lys Uncertain significance Single submitter
-
ACAT1 p.Asn414Asp
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Cys119Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAT1 p.Gln101Arg Uncertain significance Single submitter
-
ACAT1 p.Glu154Lys
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Glu198Lys
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Glu254Lys
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Glu255Ala
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Gly11Ser
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Gly396Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Gly396Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Gly408Arg
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Gly408Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAT1 p.Gly408Val Uncertain significance Single submitter
-
ACAT1 p.Ile122Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Ile236Thr
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ile26Val
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ile312Val
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ile364Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Ile369Val
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Leu140Phe
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Leu18Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Leu4Pro
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Leu4Val
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Met135Ile
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Met153Ile
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Met366Val
Uncertain significance
Single submitter
beta-ketothiolase deficiency
- ACAT1 p.Met91Ile Uncertain significance Single submitter
-
ACAT1 p.Pro17Ala
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Pro17Ser
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Pro326Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ACAT1 p.Pro329Thr Uncertain significance Single submitter
- ACAT1 p.Ser128Ala Uncertain significance Single submitter
-
ACAT1 p.Ser137Phe
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ser222Arg
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Trp350Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Val235Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Val259Ala
Uncertain significance
Single submitter
beta-ketothiolase deficiency
- ACAT1 p.Val381Ala Uncertain significance Single submitter
-
ACAT1 p.Val86Leu
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Asp288Gly
Uncertain significance
No assertion criteria
beta-ketothiolase deficiency
-
ACAT1 p.Gln24Pro
Uncertain significance
No assertion criteria
beta-ketothiolase deficiency
-
ACAT1 p.Ile327Met
Uncertain significance
No assertion criteria
beta-ketothiolase deficiency
-
ACAT1 p.Lys426Thr
Uncertain significance
No assertion criteria
beta-ketothiolase deficiency
-
ACAT1 p.Met130Thr
Uncertain significance
No assertion criteria
beta-ketothiolase deficiency
-
ACAT1 p.Phe325Leu
Uncertain significance
No assertion criteria
beta-ketothiolase deficiency
-
ACAT1 p.Thr120Ile
Uncertain significance
No assertion criteria
beta-ketothiolase deficiency
Predictors split 74
The independent predictors disagree with each other — read with care.
-
ACAT1 p.Ala213Thr
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Arg31Trp
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Asn158Asp
Pathogenic/Likely pathogenic
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Asn205His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAT1 p.Gln272His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAT1 p.Glu406Gly
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Glu77Lys
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Ile70Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAT1 p.Leu427Met
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Lys257Thr
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Met163Ile
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Met296Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAT1 p.Met335Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAT1 p.Pro114Ser
Uncertain significance
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Thr297Lys
Pathogenic/Likely pathogenic
Multiple submitters
beta-ketothiolase deficiency
-
ACAT1 p.Tyr407His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACAT1 p.Ala150Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Ala201Val
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ala280Thr
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ala281Thr
Pathogenic
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ala2Val
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ala300Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Ala301Val
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ala410Val
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ala47Val
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ala5Val
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Arg258Cys
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Asn205Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Asn217Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Asn282Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Asn305Ser
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Cys119Gly
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Cys142Phe
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Gln145Glu
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Gln425Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Glu176Gly
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Glu252Lys
Uncertain significance
Single submitter
beta-ketothiolase deficiency
- ACAT1 p.Glu345Gly Uncertain significance Single submitter
- ACAT1 p.Glu345Lys Uncertain significance Single submitter
-
ACAT1 p.Gly388Ala
Likely pathogenic
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.His397Arg
Likely pathogenic
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.His397Asn
Pathogenic
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.His400Arg
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ile323Thr
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ile387Val
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ile70Thr
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Leu109Trp
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Leu178Phe
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Lys124Arg
Likely pathogenic
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Lys174Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Lys203Gln
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Lys343Arg
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Lys403Arg
Uncertain significance
Single submitter
beta-ketothiolase deficiency
- ACAT1 p.Met134Thr Uncertain significance Single submitter
-
ACAT1 p.Met141Thr
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Pro114Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Pro237Thr
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Pro326Ala
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ser10Asn
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Ser222Gly
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Thr168Ala
Conflicting
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Thr200Ile
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Val159Ile
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Val173Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACAT1 p.Val320Ala
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Val340Met
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Val360Ile
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Val395Leu
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Val45Leu
Uncertain significance
Single submitter
beta-ketothiolase deficiency
-
ACAT1 p.Arg20Trp
Uncertain significance
No assertion criteria
beta-ketothiolase deficiency
-
ACAT1 p.Asp146Asn
Uncertain significance
No assertion criteria
beta-ketothiolase deficiency
-
ACAT1 p.Gln245Glu
Uncertain significance
No assertion criteria
beta-ketothiolase deficiency
-
ACAT1 p.His400Leu
Uncertain significance
No assertion criteria
beta-ketothiolase deficiency
-
ACAT1 p.Pro237Ser
Uncertain significance
No assertion criteria
beta-ketothiolase deficiency
All ACAT1 variants
Pathogenic 79
- c.1006-1G>A Multiple submitters beta-ketothiolase deficiency
- c.1006-1G>C Multiple submitters beta-ketothiolase deficiency
- c.1006-2A>C Multiple submitters beta-ketothiolase deficiency
- c.1163+2T>C Multiple submitters beta-ketothiolase deficiency
- c.435+1G>A Multiple submitters beta-ketothiolase deficiency
- c.731-46_752del Multiple submitters beta-ketothiolase deficiency
- p.Arg208Ter Multiple submitters beta-ketothiolase deficiency
- p.Asp317Asn Multiple submitters beta-ketothiolase deficiency
- p.Gln272Ter Multiple submitters beta-ketothiolase deficiency
- p.Gln96Ter Multiple submitters beta-ketothiolase deficiency
- p.Glu345fs Multiple submitters beta-ketothiolase deficiency
- p.Glu85fs Multiple submitters beta-ketothiolase deficiency
- p.Lys373Ter Multiple submitters beta-ketothiolase deficiency
- p.Met1Thr Multiple submitters beta-ketothiolase deficiency
- p.Met1Val Multiple submitters beta-ketothiolase deficiency
- p.Thr241fs Multiple submitters beta-ketothiolase deficiency
- c.1006-4_1006-1delinsAAA Single submitter
- c.(120+1_121-1 Single submitter beta-ketothiolase deficiency
- c.120+2267_120+2268del Single submitter beta-ketothiolase deficiency
- c.120+374_731-68delinsTAA Single submitter beta-ketothiolase deficiency
- c.121-13T>A Single submitter beta-ketothiolase deficiency
- c.238+1G>A Single submitter beta-ketothiolase deficiency
- c.334+1G>A Single submitter beta-ketothiolase deficiency
- c.580-93_626del Single submitter beta-ketothiolase deficiency
- c.(72+1_73-1 Single submitter beta-ketothiolase deficiency
- c.(730+1_731-1 Single submitter beta-ketothiolase deficiency
- c.730+1G>A Single submitter beta-ketothiolase deficiency
- c.731-2A>G Single submitter beta-ketothiolase deficiency
- c.826+1G>A Single submitter beta-ketothiolase deficiency
- c.826+2T>C Single submitter beta-ketothiolase deficiency
- c.941-60T>C Single submitter beta-ketothiolase deficiency
- p.Ala111fs Single submitter beta-ketothiolase deficiency
- p.Ala207fs Single submitter beta-ketothiolase deficiency
- p.Ala281Thr Single submitter beta-ketothiolase deficiency ⚠
- p.Ala283fs Single submitter beta-ketothiolase deficiency
- p.Ala291fs Single submitter beta-ketothiolase deficiency
- p.Ala328_Pro329insLeuLeuTer Single submitter beta-ketothiolase deficiency
- p.Ala362fs Single submitter beta-ketothiolase deficiency
- p.Ala392fs Single submitter beta-ketothiolase deficiency
- p.Ala410fs Single submitter beta-ketothiolase deficiency
- p.Arg27Ter Single submitter beta-ketothiolase deficiency
- p.Asp253Asn Single submitter Inborn genetic diseases
- p.Asp339fs Single submitter beta-ketothiolase deficiency
- p.Cys119fs Single submitter beta-ketothiolase deficiency
- p.Gln106Ter Single submitter beta-ketothiolase deficiency
- p.Gln138fs Single submitter beta-ketothiolase deficiency
- p.Gln145Ter Single submitter beta-ketothiolase deficiency
- p.Gln404fs Single submitter beta-ketothiolase deficiency
- p.Glu154fs Single submitter beta-ketothiolase deficiency
- p.Glu210Ter Single submitter beta-ketothiolase deficiency
- p.Glu252fs Single submitter beta-ketothiolase deficiency
- p.Glu255Ter Single submitter beta-ketothiolase deficiency
- p.Glu25fs Single submitter beta-ketothiolase deficiency
- p.Glu321fs Single submitter beta-ketothiolase deficiency
- p.Gly152_Asn158del Single submitter beta-ketothiolase deficiency
- p.Gly388Glu Single submitter beta-ketothiolase deficiency
- p.Gly57fs Single submitter beta-ketothiolase deficiency
- p.Gly92Ser Single submitter beta-ketothiolase deficiency
- p.His397Asn Single submitter beta-ketothiolase deficiency ⚠
- p.Ile26fs Single submitter beta-ketothiolase deficiency
- p.Leu367Ter Single submitter beta-ketothiolase deficiency
- p.Lys181fs Single submitter beta-ketothiolase deficiency
- p.Lys78fs Single submitter beta-ketothiolase deficiency
- p.Met1Lys Single submitter beta-ketothiolase deficiency
- p.Met91fs Single submitter beta-ketothiolase deficiency
- p.Phe55Ile Single submitter beta-ketothiolase deficiency
- p.Pro114fs Single submitter beta-ketothiolase deficiency
- p.Ser128_Gly129insTer Single submitter beta-ketothiolase deficiency
- p.Ser218Ter Single submitter beta-ketothiolase deficiency
- p.Ser35Ter Single submitter beta-ketothiolase deficiency
- p.Thr185fs Single submitter beta-ketothiolase deficiency
- p.Thr279fs Single submitter beta-ketothiolase deficiency
- p.Thr50fs Single submitter beta-ketothiolase deficiency
- p.Tyr161Ter Single submitter beta-ketothiolase deficiency
- p.Tyr214Ter Single submitter beta-ketothiolase deficiency
- p.Tyr219delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTrpSerArgSerProAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer Single submitter beta-ketothiolase deficiency
- p.Val125fs Single submitter beta-ketothiolase deficiency
- p.Val149fs Single submitter beta-ketothiolase deficiency
- p.Val264fs Single submitter beta-ketothiolase deficiency
Pathogenic/Likely pathogenic 55
- c.1163+1G>A Multiple submitters beta-ketothiolase deficiency
- c.121-3C>G Multiple submitters beta-ketothiolase deficiency
- c.238+2T>A Multiple submitters beta-ketothiolase deficiency
- c.64_72+10del Multiple submitters beta-ketothiolase deficiency
- c.730+2T>C Multiple submitters beta-ketothiolase deficiency
- c.826+1G>T Multiple submitters beta-ketothiolase deficiency
- c.826+2T>G Multiple submitters beta-ketothiolase deficiency
- c.940+1G>T Multiple submitters beta-ketothiolase deficiency
- c.941-9T>A Multiple submitters beta-ketothiolase deficiency
- p.Ala127fs Multiple submitters beta-ketothiolase deficiency
- p.Ala127Val Multiple submitters beta-ketothiolase deficiency
- p.Ala333Pro Multiple submitters beta-ketothiolase deficiency
- p.Asn123fs Multiple submitters beta-ketothiolase deficiency
- p.Asn158Asp Multiple submitters beta-ketothiolase deficiency ⚠
- p.Asn158Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn164fs Multiple submitters beta-ketothiolase deficiency
- p.Asn217fs Multiple submitters beta-ketothiolase deficiency
- p.Asn275fs Multiple submitters beta-ketothiolase deficiency
- p.Asn375Ser Multiple submitters beta-ketothiolase deficiency
- p.Cys126Ser Multiple submitters beta-ketothiolase deficiency
- p.Gln101Ter Multiple submitters beta-ketothiolase deficiency
- p.Gln245Ter Multiple submitters beta-ketothiolase deficiency
- p.Gln372Ter Multiple submitters beta-ketothiolase deficiency
- p.Gln404Ter Multiple submitters beta-ketothiolase deficiency
- p.Gln73Ter Multiple submitters beta-ketothiolase deficiency
- p.Glu30fs Multiple submitters beta-ketothiolase deficiency
- p.Glu77fs Multiple submitters beta-ketothiolase deficiency
- p.Glu88fs Multiple submitters beta-ketothiolase deficiency
- p.Gly152Ala Multiple submitters beta-ketothiolase deficiency
- p.Gly183Arg Multiple submitters beta-ketothiolase deficiency
- p.Gly378fs Multiple submitters beta-ketothiolase deficiency
- p.His397Asp Multiple submitters beta-ketothiolase deficiency
- p.Ile179fs Multiple submitters beta-ketothiolase deficiency
- p.Ile191fs Multiple submitters beta-ketothiolase deficiency
- p.Ile312Thr Multiple submitters beta-ketothiolase deficiency
- p.Ile347Thr Multiple submitters beta-ketothiolase deficiency
- p.Ile387Thr Multiple submitters beta-ketothiolase deficiency
- p.Lys263Ter Multiple submitters beta-ketothiolase deficiency
- p.Lys302fs Multiple submitters beta-ketothiolase deficiency
- p.Met148fs Multiple submitters beta-ketothiolase deficiency
- p.Met193Arg Multiple submitters beta-ketothiolase deficiency
- p.Met193Thr Multiple submitters beta-ketothiolase deficiency
- p.Met1Leu Multiple submitters beta-ketothiolase deficiency
- p.Ser10fs Multiple submitters beta-ketothiolase deficiency
- p.Ser137fs Multiple submitters beta-ketothiolase deficiency
- p.Ser218Phe Multiple submitters beta-ketothiolase deficiency
- p.Ser46fs Multiple submitters beta-ketothiolase deficiency
- p.Thr239fs Multiple submitters beta-ketothiolase deficiency
- p.Thr269fs Multiple submitters beta-ketothiolase deficiency
- p.Thr297Lys Multiple submitters beta-ketothiolase deficiency ⚠
- p.Thr297Met Multiple submitters beta-ketothiolase deficiency ⚠
- p.Trp226Ter Multiple submitters beta-ketothiolase deficiency
- p.Trp350Ter Multiple submitters beta-ketothiolase deficiency
- p.Tyr28fs Multiple submitters beta-ketothiolase deficiency
- p.Val250fs Multiple submitters beta-ketothiolase deficiency
Likely pathogenic 73
- c.120+1G>C Multiple submitters beta-ketothiolase deficiency
- c.826+5_826+9del Multiple submitters beta-ketothiolase deficiency
- c.826+5G>T Multiple submitters beta-ketothiolase deficiency
- c.940+2T>C Multiple submitters beta-ketothiolase deficiency
- p.Ala301Pro Multiple submitters beta-ketothiolase deficiency
- p.Asn353Lys Multiple submitters beta-ketothiolase deficiency
- p.Asn414_Gly415delinsSer Multiple submitters beta-ketothiolase deficiency
- p.Asp186Tyr Multiple submitters beta-ketothiolase deficiency
- p.Asp253Glu Multiple submitters beta-ketothiolase deficiency
- p.Gln24Ter Multiple submitters beta-ketothiolase deficiency
- p.Gln73Pro Multiple submitters beta-ketothiolase deficiency
- p.Glu252del Multiple submitters beta-ketothiolase deficiency
- p.Glu345del Multiple submitters beta-ketothiolase deficiency
- p.Gly379Val Multiple submitters beta-ketothiolase deficiency
- p.His144Pro Multiple submitters beta-ketothiolase deficiency
- p.Ser390Pro Multiple submitters beta-ketothiolase deficiency
- p.Tyr161His Multiple submitters beta-ketothiolase deficiency
- p.Tyr219His Multiple submitters beta-ketothiolase deficiency
- c.1005+1G>A Single submitter beta-ketothiolase deficiency
- c.1005+2T>G Single submitter beta-ketothiolase deficiency
- c.1164-2A>G Single submitter beta-ketothiolase deficiency
- c.120+1G>A Single submitter beta-ketothiolase deficiency
- c.120+1G>T Single submitter beta-ketothiolase deficiency
- c.121-2A>G Single submitter beta-ketothiolase deficiency
- c.238+2T>C Single submitter beta-ketothiolase deficiency
- c.334+2T>A Single submitter beta-ketothiolase deficiency
- c.335-2A>G Single submitter beta-ketothiolase deficiency
- c.579+2T>A Single submitter beta-ketothiolase deficiency
- c.580-2A>G Single submitter beta-ketothiolase deficiency
- c.73-1G>A Single submitter beta-ketothiolase deficiency
- c.731-1G>A Single submitter beta-ketothiolase deficiency
- c.826+5G>A Single submitter
- c.940+2dup Single submitter beta-ketothiolase deficiency
- p.Ala12fs Single submitter beta-ketothiolase deficiency
- p.Ala132Gly Single submitter beta-ketothiolase deficiency ⚠
- p.Ala215Asn Single submitter beta-ketothiolase deficiency
- p.Ala225Glu Single submitter beta-ketothiolase deficiency
- p.Ala314Pro Single submitter beta-ketothiolase deficiency
- p.Ala380Thr Single submitter beta-ketothiolase deficiency
- p.Ala419Thr Single submitter beta-ketothiolase deficiency
- p.Asn199fs Single submitter beta-ketothiolase deficiency
- p.Asn209fs Single submitter beta-ketothiolase deficiency
- p.Asn282His Single submitter beta-ketothiolase deficiency
- p.Asn93Ser Single submitter beta-ketothiolase deficiency ⚠
- p.Asp339dup Single submitter beta-ketothiolase deficiency
- p.Gln106delinsArgTer Single submitter beta-ketothiolase deficiency
- p.Gln272fs Single submitter beta-ketothiolase deficiency
- p.Glu274fs Single submitter beta-ketothiolase deficiency
- p.Glu354Val Single submitter beta-ketothiolase deficiency
- p.Glu85Ter Single submitter beta-ketothiolase deficiency
- p.Glu88Ala Single submitter beta-ketothiolase deficiency
- p.Gly166fs Single submitter beta-ketothiolase deficiency
- p.Gly388Ala Single submitter beta-ketothiolase deficiency ⚠
- p.Gly405fs Single submitter beta-ketothiolase deficiency
- p.His397Arg Single submitter beta-ketothiolase deficiency ⚠
- p.Ile122fs Single submitter beta-ketothiolase deficiency
- p.Ile323fs Single submitter beta-ketothiolase deficiency
- p.Ile412fs Single submitter beta-ketothiolase deficiency
- p.Ile44Thr Single submitter beta-ketothiolase deficiency
- p.Ile81fs Single submitter beta-ketothiolase deficiency
- p.Leu140Arg Single submitter beta-ketothiolase deficiency
- p.Leu140fs Single submitter beta-ketothiolase deficiency
- p.Leu18fs Single submitter beta-ketothiolase deficiency
- p.Leu358fs Single submitter beta-ketothiolase deficiency
- p.Leu398fs Single submitter beta-ketothiolase deficiency
- p.Leu62fs Single submitter beta-ketothiolase deficiency
- p.Lys124Arg Single submitter beta-ketothiolase deficiency ⚠
- p.Lys124Glu Single submitter beta-ketothiolase deficiency
- p.Met366fs Single submitter beta-ketothiolase deficiency
- p.Met389Ile Single submitter beta-ketothiolase deficiency
- p.Tyr33Ter Single submitter beta-ketothiolase deficiency
- p.Val359fs Single submitter beta-ketothiolase deficiency
- p.Ala348fs No assertion criteria beta-ketothiolase deficiency
Conflicting classifications of pathogenicity 34
- c.239-8T>A Single submitter beta-ketothiolase deficiency
- c.436-4G>C Single submitter beta-ketothiolase deficiency
- c.826+3_826+6del Single submitter beta-ketothiolase deficiency
- c.941-13T>C Single submitter beta-ketothiolase deficiency
- c.941-14C>T Single submitter beta-ketothiolase deficiency
- c.941-7del Single submitter beta-ketothiolase deficiency
- p.Ala316dup Single submitter beta-ketothiolase deficiency
- p.Ala410Val Single submitter beta-ketothiolase deficiency ⚠
- p.Arg20= Single submitter beta-ketothiolase deficiency
- p.Arg208Gln Single submitter beta-ketothiolase deficiency ⚠
- p.Arg258Cys Single submitter beta-ketothiolase deficiency ⚠
- p.Asp317= Single submitter Inborn genetic diseases
- p.Cys126= Single submitter beta-ketothiolase deficiency
- p.Gln145Glu Single submitter beta-ketothiolase deficiency ⚠
- p.Glu255Asp Single submitter beta-ketothiolase deficiency ⚠
- p.Glu85del Single submitter beta-ketothiolase deficiency
- p.Gly100Glu Single submitter beta-ketothiolase deficiency ⚠
- p.Gly418Asp Single submitter beta-ketothiolase deficiency ⚠
- p.Gly68Val Single submitter beta-ketothiolase deficiency ⚠
- p.His397= Single submitter beta-ketothiolase deficiency
- p.His400fs Single submitter beta-ketothiolase deficiency
- p.Ile323Thr Single submitter beta-ketothiolase deficiency ⚠
- p.Ile323Val Single submitter beta-ketothiolase deficiency ⚠
- p.Ile327Val Single submitter beta-ketothiolase deficiency ⚠
- p.Ile387Val Single submitter beta-ketothiolase deficiency ⚠
- p.Leu178= Single submitter beta-ketothiolase deficiency
- p.Lys203Gln Single submitter beta-ketothiolase deficiency ⚠
- p.Lys343Arg Single submitter beta-ketothiolase deficiency ⚠
- p.Phe55_Leu56delinsLys Single submitter beta-ketothiolase deficiency
- p.Ser284Asn Single submitter beta-ketothiolase deficiency ⚠
- p.Ser46= Single submitter beta-ketothiolase deficiency
- p.Thr168Ala Single submitter beta-ketothiolase deficiency ⚠
- p.Thr277Pro Single submitter beta-ketothiolase deficiency ⚠
- p.Thr297= Single submitter beta-ketothiolase deficiency
Benign 57
- c.1005+175A>C Multiple submitters
- c.1005+25C>T Multiple submitters beta-ketothiolase deficiency
- c.238+134A>C Multiple submitters beta-ketothiolase deficiency
- c.238+23G>A Multiple submitters
- c.239-8del Multiple submitters beta-ketothiolase deficiency
- c.334+172C>G Multiple submitters beta-ketothiolase deficiency
- c.435+136G>A Multiple submitters
- c.435+78A>C Multiple submitters beta-ketothiolase deficiency
- c.436-244T>C Multiple submitters
- c.436-4G>A Multiple submitters beta-ketothiolase deficiency
- c.579+159G>A Multiple submitters
- c.826+85_826+86insGTAA Multiple submitters beta-ketothiolase deficiency
- c.827-158T>A Multiple submitters
- c.827-71A>G Multiple submitters
- c.940+84C>T Multiple submitters beta-ketothiolase deficiency
- c.940+94C>T Multiple submitters
- c.941-75A>C Multiple submitters
- c.-15C>G Multiple submitters beta-ketothiolase deficiency
- c.-22C>G Multiple submitters beta-ketothiolase deficiency
- c.-28T>A Multiple submitters beta-ketothiolase deficiency
- c.-9T>A Multiple submitters beta-ketothiolase deficiency
- c.*179T>G Multiple submitters beta-ketothiolase deficiency
- c.*6dup Multiple submitters beta-ketothiolase deficiency
- p.Ala5Pro Multiple submitters beta-ketothiolase deficiency
- p.Pro160= Multiple submitters beta-ketothiolase deficiency
- p.Pro326= Multiple submitters beta-ketothiolase deficiency
- p.Ser157= Multiple submitters beta-ketothiolase deficiency
- c.1005+184dup Single submitter
- c.1006-146del Single submitter
- c.239-10_239-8del Single submitter beta-ketothiolase deficiency
- c.239-11_239-8del Single submitter beta-ketothiolase deficiency
- c.239-8dup Single submitter
- c.239-9_239-8del Single submitter beta-ketothiolase deficiency
- c.335-248C>G Single submitter
- c.335-328C>G Single submitter
- c.335-3del Single submitter beta-ketothiolase deficiency
- c.435+187G>C Single submitter
- c.435+213T>G Single submitter
- c.435+300dup Single submitter
- c.580-253_580-243del Single submitter
- c.73-189T>C Single submitter
- c.731-214_731-210del Single submitter
- c.731-215_731-210dup Single submitter
- c.731-255G>A Single submitter
- c.731-28G>A Single submitter
- c.941-14del Single submitter
- c.941-14dup Single submitter
- c.941-15_941-14del Single submitter
- c.941-37dup Single submitter
- c.941-7dup Single submitter beta-ketothiolase deficiency
- c.-199+4314_-199+4315del Single submitter
- c.*214G>C Single submitter beta-ketothiolase deficiency
- c.*250C>T Single submitter beta-ketothiolase deficiency
- c.*293A>T Single submitter beta-ketothiolase deficiency
- c.*507G>A Single submitter beta-ketothiolase deficiency
- c.*555A>G Single submitter beta-ketothiolase deficiency
- c.*599A>C Single submitter beta-ketothiolase deficiency
Benign/Likely benign 2
- c.238+17C>T Multiple submitters beta-ketothiolase deficiency
- p.Phe356= Multiple submitters beta-ketothiolase deficiency
Likely benign 301
Showing the top 300 by review status; the full set is in the sitemap.
- c.1006-7A>T Multiple submitters beta-ketothiolase deficiency
- c.1164-15C>T Multiple submitters beta-ketothiolase deficiency
- c.436-5C>T Multiple submitters beta-ketothiolase deficiency
- c.*258G>A Multiple submitters beta-ketothiolase deficiency
- p.His400= Multiple submitters beta-ketothiolase deficiency
- c.1005+11A>C Single submitter beta-ketothiolase deficiency
- c.1005+11A>T Single submitter beta-ketothiolase deficiency
- c.1005+18G>A Single submitter beta-ketothiolase deficiency
- c.1005+19G>A Single submitter beta-ketothiolase deficiency
- c.1005+19G>T Single submitter beta-ketothiolase deficiency
- c.1005+20C>T Single submitter beta-ketothiolase deficiency
- c.1005+20dup Single submitter beta-ketothiolase deficiency
- c.1006-15T>C Single submitter beta-ketothiolase deficiency
- c.1006-16T>C Single submitter beta-ketothiolase deficiency
- c.1006-17C>A Single submitter beta-ketothiolase deficiency
- c.1006-17C>G Single submitter beta-ketothiolase deficiency
- c.1006-18T>A Single submitter beta-ketothiolase deficiency
- c.1006-18T>C Single submitter beta-ketothiolase deficiency
- c.1006-19G>A Single submitter beta-ketothiolase deficiency
- c.1006-21C>A Single submitter beta-ketothiolase deficiency
- c.1006-4T>G Single submitter beta-ketothiolase deficiency
- c.1006-8A>C Single submitter beta-ketothiolase deficiency
- c.1163+11A>G Single submitter beta-ketothiolase deficiency
- c.1163+14A>G Single submitter beta-ketothiolase deficiency
- c.1163+15_1163+17del Single submitter beta-ketothiolase deficiency
- c.1163+16_1163+18del Single submitter beta-ketothiolase deficiency
- c.1163+18C>T Single submitter beta-ketothiolase deficiency
- c.1163+19T>A Single submitter beta-ketothiolase deficiency
- c.1163+19T>G Single submitter beta-ketothiolase deficiency
- c.1163+20A>C Single submitter beta-ketothiolase deficiency
- c.1163+20A>G Single submitter beta-ketothiolase deficiency
- c.1163+7A>G Single submitter beta-ketothiolase deficiency
- c.1164-11C>T Single submitter beta-ketothiolase deficiency
- c.1164-14T>C Single submitter beta-ketothiolase deficiency
- c.1164-17T>C Single submitter beta-ketothiolase deficiency
- c.1164-4T>C Single submitter beta-ketothiolase deficiency
- c.1164-4T>G Single submitter beta-ketothiolase deficiency
- c.1164-7A>C Single submitter beta-ketothiolase deficiency
- c.1164-8_1164-4dup Single submitter beta-ketothiolase deficiency
- c.120+17G>A Single submitter beta-ketothiolase deficiency
- c.120+20C>G Single submitter beta-ketothiolase deficiency
- c.120+20C>T Single submitter beta-ketothiolase deficiency
- c.121-12G>A Single submitter beta-ketothiolase deficiency
- c.121-12G>T Single submitter beta-ketothiolase deficiency
- c.121-19C>A Single submitter beta-ketothiolase deficiency
- c.121-19C>T Single submitter beta-ketothiolase deficiency
- c.121-8C>T Single submitter beta-ketothiolase deficiency
- c.238+11A>G Single submitter beta-ketothiolase deficiency
- c.238+13T>C Single submitter beta-ketothiolase deficiency
- c.238+20T>C Single submitter beta-ketothiolase deficiency
- c.238+20T>G Single submitter beta-ketothiolase deficiency
- c.238+8G>T Single submitter beta-ketothiolase deficiency
- c.239-13T>G Single submitter beta-ketothiolase deficiency
- c.239-14T>G Single submitter beta-ketothiolase deficiency
- c.239-17_239-16insC Single submitter beta-ketothiolase deficiency
- c.239-6dup Single submitter beta-ketothiolase deficiency
- c.334+16T>C Single submitter beta-ketothiolase deficiency
- c.334+18_334+19del Single submitter beta-ketothiolase deficiency
- c.334+19T>G Single submitter beta-ketothiolase deficiency
- c.334+8G>A Single submitter beta-ketothiolase deficiency
- c.335-12T>C Single submitter beta-ketothiolase deficiency
- c.335-16C>T Single submitter beta-ketothiolase deficiency
- c.335-19T>C Single submitter beta-ketothiolase deficiency
- c.335-20G>A Single submitter beta-ketothiolase deficiency
- c.335-20G>C Single submitter beta-ketothiolase deficiency
- c.335-4T>G Single submitter beta-ketothiolase deficiency
- c.435+11C>T Single submitter beta-ketothiolase deficiency
- c.435+12C>T Single submitter beta-ketothiolase deficiency
- c.435+13G>A Single submitter beta-ketothiolase deficiency
- c.435+19C>T Single submitter beta-ketothiolase deficiency
- c.435+20C>T Single submitter beta-ketothiolase deficiency
- c.436-12G>A Single submitter beta-ketothiolase deficiency
- c.436-13T>C Single submitter beta-ketothiolase deficiency
- c.436-14G>A Single submitter beta-ketothiolase deficiency
- c.436-7T>C Single submitter beta-ketothiolase deficiency
- c.436-8C>T Single submitter beta-ketothiolase deficiency
- c.579+11T>C Single submitter beta-ketothiolase deficiency
- c.579+17G>T Single submitter beta-ketothiolase deficiency
- c.579+7G>A Single submitter beta-ketothiolase deficiency
- c.579+8T>C Single submitter beta-ketothiolase deficiency
- c.580-12A>C Single submitter beta-ketothiolase deficiency
- c.580-14C>A Single submitter beta-ketothiolase deficiency
- c.580-5dup Single submitter beta-ketothiolase deficiency
- c.580-7T>C Single submitter beta-ketothiolase deficiency
- c.580-8T>C Single submitter beta-ketothiolase deficiency
- c.72+10G>A Single submitter beta-ketothiolase deficiency
- c.72+10G>T Single submitter beta-ketothiolase deficiency
- c.72+13C>T Single submitter beta-ketothiolase deficiency
- c.72+15T>A Single submitter beta-ketothiolase deficiency
- c.72+17C>T Single submitter beta-ketothiolase deficiency
- c.72+19C>T Single submitter beta-ketothiolase deficiency
- c.72+8G>C Single submitter beta-ketothiolase deficiency
- c.73-10T>C Single submitter beta-ketothiolase deficiency
- c.73-10T>G Single submitter beta-ketothiolase deficiency
- c.73-12T>C Single submitter
- c.73-13A>G Single submitter beta-ketothiolase deficiency
- c.73-16_73-13del Single submitter beta-ketothiolase deficiency
- c.73-17_73-12del Single submitter beta-ketothiolase deficiency
- c.73-18T>C Single submitter beta-ketothiolase deficiency
- c.73-20_73-18del Single submitter beta-ketothiolase deficiency
- c.73-9A>G Single submitter beta-ketothiolase deficiency
- c.730+12G>A Single submitter beta-ketothiolase deficiency
- c.730+8T>G Single submitter beta-ketothiolase deficiency
- c.731-10_731-8del Single submitter beta-ketothiolase deficiency
- c.731-17A>G Single submitter beta-ketothiolase deficiency
- c.731-20T>C Single submitter beta-ketothiolase deficiency
- c.731-20T>G Single submitter beta-ketothiolase deficiency
- c.731-39T>C Single submitter
- c.731-6T>C Single submitter beta-ketothiolase deficiency
- c.826+10A>G Single submitter beta-ketothiolase deficiency
- c.826+15A>G Single submitter beta-ketothiolase deficiency
- c.826+16T>C Single submitter beta-ketothiolase deficiency
- c.826+19A>C Single submitter beta-ketothiolase deficiency
- c.826+20G>A Single submitter beta-ketothiolase deficiency
- c.826+7G>A Single submitter beta-ketothiolase deficiency
- c.827-12T>G Single submitter beta-ketothiolase deficiency
- c.827-16_827-15del Single submitter beta-ketothiolase deficiency
- c.827-16T>A Single submitter beta-ketothiolase deficiency
- c.827-16T>C Single submitter beta-ketothiolase deficiency
- c.827-17C>G Single submitter beta-ketothiolase deficiency
- c.827-18C>A Single submitter beta-ketothiolase deficiency
- c.940+12C>A Single submitter beta-ketothiolase deficiency
- c.940+12C>G Single submitter beta-ketothiolase deficiency
- c.940+13G>A Single submitter beta-ketothiolase deficiency
- c.940+14_940+18del Single submitter beta-ketothiolase deficiency
- c.940+15_940+25del Single submitter beta-ketothiolase deficiency
- c.940+15G>A Single submitter beta-ketothiolase deficiency
- c.940+16_940+20del Single submitter beta-ketothiolase deficiency
- c.940+20C>G Single submitter beta-ketothiolase deficiency
- c.940+7C>G Single submitter beta-ketothiolase deficiency
- c.941-14_941-13del Single submitter beta-ketothiolase deficiency
- c.941-15C>A Single submitter beta-ketothiolase deficiency
- c.941-15C>G Single submitter beta-ketothiolase deficiency
- c.941-15C>T Single submitter beta-ketothiolase deficiency
- c.941-16_941-15insA Single submitter beta-ketothiolase deficiency
- c.941-16C>A Single submitter beta-ketothiolase deficiency
- c.941-16C>G Single submitter beta-ketothiolase deficiency
- c.941-16C>T Single submitter beta-ketothiolase deficiency
- c.941-17C>A Single submitter beta-ketothiolase deficiency
- c.941-17C>G Single submitter beta-ketothiolase deficiency
- c.941-18_941-17insG Single submitter beta-ketothiolase deficiency
- c.941-18C>G Single submitter beta-ketothiolase deficiency
- c.941-18C>T Single submitter beta-ketothiolase deficiency
- c.941-19C>T Single submitter beta-ketothiolase deficiency
- c.941-20C>A Single submitter beta-ketothiolase deficiency
- c.941-8T>C Single submitter beta-ketothiolase deficiency
- c.941-9T>G Single submitter beta-ketothiolase deficiency
- c.*753C>T Single submitter beta-ketothiolase deficiency
- p.Ala107= Single submitter beta-ketothiolase deficiency
- p.Ala12= Single submitter beta-ketothiolase deficiency
- p.Ala136= Single submitter beta-ketothiolase deficiency
- p.Ala201= Single submitter beta-ketothiolase deficiency
- p.Ala215= Single submitter beta-ketothiolase deficiency
- p.Ala228= Single submitter beta-ketothiolase deficiency
- p.Ala292= Single submitter beta-ketothiolase deficiency
- p.Ala301= Single submitter beta-ketothiolase deficiency
- p.Ala310= Single submitter beta-ketothiolase deficiency
- p.Ala328= Single submitter beta-ketothiolase deficiency
- p.Ala332= Single submitter beta-ketothiolase deficiency
- p.Ala348= Single submitter beta-ketothiolase deficiency
- p.Ala362= Single submitter beta-ketothiolase deficiency
- p.Ala392= Single submitter beta-ketothiolase deficiency
- p.Ala401= Single submitter beta-ketothiolase deficiency
- p.Ala410= Single submitter beta-ketothiolase deficiency
- p.Ala421= Single submitter beta-ketothiolase deficiency
- p.Ala5= Single submitter beta-ketothiolase deficiency
- p.Ala6= Single submitter beta-ketothiolase deficiency
- p.Ala64= Single submitter beta-ketothiolase deficiency
- p.Ala71= Single submitter beta-ketothiolase deficiency
- p.Ala75= Single submitter beta-ketothiolase deficiency
- p.Ala89= Single submitter beta-ketothiolase deficiency
- p.Arg105= Single submitter beta-ketothiolase deficiency
- p.Arg13= Single submitter beta-ketothiolase deficiency
- p.Arg15= Single submitter beta-ketothiolase deficiency
- p.Arg208= Single submitter beta-ketothiolase deficiency
- p.Arg258= Single submitter beta-ketothiolase deficiency
- p.Arg31= Single submitter beta-ketothiolase deficiency
- p.Arg393= Single submitter beta-ketothiolase deficiency
- p.Arg9= Single submitter beta-ketothiolase deficiency
- p.Asn158= Single submitter beta-ketothiolase deficiency
- p.Asn164= Single submitter beta-ketothiolase deficiency
- p.Asn205= Single submitter beta-ketothiolase deficiency
- p.Asn209= Single submitter beta-ketothiolase deficiency
- p.Asn233= Single submitter beta-ketothiolase deficiency
- p.Asn282= Single submitter beta-ketothiolase deficiency
- p.Asn287= Single submitter beta-ketothiolase deficiency
- p.Asn305= Single submitter beta-ketothiolase deficiency
- p.Asn353= Single submitter beta-ketothiolase deficiency
- p.Asn363= Single submitter beta-ketothiolase deficiency
- p.Asn377= Single submitter beta-ketothiolase deficiency
- p.Asp146= Single submitter beta-ketothiolase deficiency
- p.Asp177= Single submitter beta-ketothiolase deficiency
- p.Asp182= Single submitter beta-ketothiolase deficiency
- p.Asp212= Single submitter beta-ketothiolase deficiency
- p.Asp253= Single submitter beta-ketothiolase deficiency
- p.Asp288= Single submitter beta-ketothiolase deficiency
- p.Asp324= Single submitter beta-ketothiolase deficiency
- p.Cys196= Single submitter beta-ketothiolase deficiency
- p.Cys413= Single submitter beta-ketothiolase deficiency
- p.Gln101= Single submitter beta-ketothiolase deficiency
- p.Gln106= Single submitter beta-ketothiolase deficiency
- p.Gln211= Single submitter beta-ketothiolase deficiency
- p.Gln372= Single submitter beta-ketothiolase deficiency
- p.Gln96= Single submitter beta-ketothiolase deficiency
- p.Glu210= Single submitter beta-ketothiolase deficiency
- p.Glu227= Single submitter beta-ketothiolase deficiency
- p.Glu234= Single submitter beta-ketothiolase deficiency
- p.Glu351= Single submitter beta-ketothiolase deficiency
- p.Glu88= Single submitter beta-ketothiolase deficiency
- p.Gly11= Single submitter beta-ketothiolase deficiency
- p.Gly110= Single submitter beta-ketothiolase deficiency
- p.Gly171= Single submitter beta-ketothiolase deficiency
- p.Gly183= Single submitter beta-ketothiolase deficiency
- p.Gly229= Single submitter beta-ketothiolase deficiency
- p.Gly244= Single submitter beta-ketothiolase deficiency
- p.Gly289= Single submitter beta-ketothiolase deficiency
- p.Gly341= Single submitter beta-ketothiolase deficiency
- p.Gly378= Single submitter beta-ketothiolase deficiency
- p.Gly405= Single submitter beta-ketothiolase deficiency
- p.Gly408= Single submitter beta-ketothiolase deficiency
- p.Gly415= Single submitter beta-ketothiolase deficiency
- p.Gly416= Single submitter beta-ketothiolase deficiency
- p.Gly57= Single submitter beta-ketothiolase deficiency
- p.Gly97= Single submitter beta-ketothiolase deficiency
- p.Ile133= Single submitter beta-ketothiolase deficiency
- p.Ile179= Single submitter beta-ketothiolase deficiency
- p.Ile312= Single submitter beta-ketothiolase deficiency
- p.Ile376= Single submitter beta-ketothiolase deficiency
- p.Ile424= Single submitter beta-ketothiolase deficiency
- p.Leu109= Single submitter beta-ketothiolase deficiency
- p.Leu184= Single submitter beta-ketothiolase deficiency
- p.Leu19= Single submitter beta-ketothiolase deficiency
- p.Leu286= Single submitter beta-ketothiolase deficiency
- p.Leu293= Single submitter beta-ketothiolase deficiency
- p.Leu304= Single submitter beta-ketothiolase deficiency
- p.Leu309= Single submitter beta-ketothiolase deficiency
- p.Leu342= Single submitter beta-ketothiolase deficiency
- p.Leu361= Single submitter beta-ketothiolase deficiency
- p.Leu367= Single submitter beta-ketothiolase deficiency
- p.Leu383= Single submitter beta-ketothiolase deficiency
- p.Leu398= Single submitter beta-ketothiolase deficiency
- p.Leu4= Single submitter beta-ketothiolase deficiency
- p.Leu402= Single submitter beta-ketothiolase deficiency
- p.Leu427= Single submitter beta-ketothiolase deficiency
- p.Leu59= Single submitter beta-ketothiolase deficiency
- p.Leu7= Single submitter beta-ketothiolase deficiency
- p.Leu8= Single submitter beta-ketothiolase deficiency
- p.Lys203= Single submitter beta-ketothiolase deficiency
- p.Lys403= Single submitter beta-ketothiolase deficiency
- p.Lys426= Single submitter beta-ketothiolase deficiency
- p.Lys78= Single submitter beta-ketothiolase deficiency
- p.Met422Leu Single submitter Inborn genetic diseases
- p.Pro114= Single submitter beta-ketothiolase deficiency
- p.Pro118= Single submitter beta-ketothiolase deficiency
- p.Pro169= Single submitter beta-ketothiolase deficiency
- p.Pro17= Single submitter beta-ketothiolase deficiency
- p.Pro246= Single submitter beta-ketothiolase deficiency
- p.Pro329= Single submitter beta-ketothiolase deficiency
- p.Pro63= Single submitter beta-ketothiolase deficiency
- p.Ser116= Single submitter beta-ketothiolase deficiency
- p.Ser128= Single submitter beta-ketothiolase deficiency
- p.Ser14= Single submitter beta-ketothiolase deficiency
- p.Ser16= Single submitter beta-ketothiolase deficiency
- p.Ser222= Single submitter beta-ketothiolase deficiency
- p.Ser284= Single submitter beta-ketothiolase deficiency
- p.Ser35= Single submitter beta-ketothiolase deficiency
- p.Ser411= Single submitter beta-ketothiolase deficiency
- p.Ser420= Single submitter beta-ketothiolase deficiency
- p.Ser58= Single submitter beta-ketothiolase deficiency
- p.Ser60= Single submitter beta-ketothiolase deficiency
- p.Thr104= Single submitter beta-ketothiolase deficiency
- p.Thr120= Single submitter beta-ketothiolase deficiency
- p.Thr269= Single submitter beta-ketothiolase deficiency
- p.Thr277= Single submitter beta-ketothiolase deficiency
- p.Thr285= Single submitter beta-ketothiolase deficiency
- p.Thr307= Single submitter beta-ketothiolase deficiency
- p.Thr38Ile Single submitter beta-ketothiolase deficiency
- p.Thr399= Single submitter beta-ketothiolase deficiency
- p.Tyr161= Single submitter beta-ketothiolase deficiency
- p.Tyr170= Single submitter beta-ketothiolase deficiency
- p.Tyr214= Single submitter beta-ketothiolase deficiency
- p.Tyr219= Single submitter beta-ketothiolase deficiency
- p.Tyr256= Single submitter
- p.Tyr28= Single submitter beta-ketothiolase deficiency
- p.Tyr33= Single submitter beta-ketothiolase deficiency
- p.Tyr407= Single submitter beta-ketothiolase deficiency
- p.Val125= Single submitter beta-ketothiolase deficiency
- p.Val149= Single submitter beta-ketothiolase deficiency
- p.Val159= Single submitter beta-ketothiolase deficiency
- p.Val249= Single submitter beta-ketothiolase deficiency
- p.Val259= Single submitter beta-ketothiolase deficiency
- p.Val270= Single submitter beta-ketothiolase deficiency
- p.Val3= Single submitter beta-ketothiolase deficiency
- p.Val306= Single submitter beta-ketothiolase deficiency
- p.Val320= Single submitter beta-ketothiolase deficiency
- p.Val340= Single submitter beta-ketothiolase deficiency
- p.Val359= Single submitter beta-ketothiolase deficiency
- p.Val42= Single submitter beta-ketothiolase deficiency
- p.Val43= Single submitter beta-ketothiolase deficiency
- c.941-6A>C No assertion criteria ACAT1-related disorder
Uncertain significance 161
- c.730+6G>C Multiple submitters beta-ketothiolase deficiency
- p.Ala12Thr Multiple submitters beta-ketothiolase deficiency ⚠
- p.Ala213Thr Multiple submitters beta-ketothiolase deficiency ⚠
- p.Arg31Trp Multiple submitters beta-ketothiolase deficiency ⚠
- p.Asn205His Multiple submitters Inborn genetic diseases ⚠
- p.Gln101Lys Multiple submitters beta-ketothiolase deficiency ⚠
- p.Gln272His Multiple submitters Inborn genetic diseases ⚠
- p.Glu255_Tyr256delinsAspAsn Multiple submitters beta-ketothiolase deficiency
- p.Glu406Gly Multiple submitters beta-ketothiolase deficiency ⚠
- p.Glu77Lys Multiple submitters beta-ketothiolase deficiency ⚠
- p.His192Arg Multiple submitters beta-ketothiolase deficiency ⚠
- p.His400Tyr Multiple submitters beta-ketothiolase deficiency ⚠
- p.Ile70Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu427Met Multiple submitters beta-ketothiolase deficiency ⚠
- p.Leu67Arg Multiple submitters beta-ketothiolase deficiency ⚠
- p.Lys257Thr Multiple submitters beta-ketothiolase deficiency ⚠
- p.Met141Leu Multiple submitters beta-ketothiolase deficiency ⚠
- p.Met163Ile Multiple submitters beta-ketothiolase deficiency ⚠
- p.Met296Leu Multiple submitters Inborn genetic diseases ⚠
- p.Met335Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro114Ser Multiple submitters beta-ketothiolase deficiency ⚠
- p.Thr241Ala Multiple submitters beta-ketothiolase deficiency ⚠
- p.Thr285Ile Multiple submitters beta-ketothiolase deficiency ⚠
- p.Tyr256Asn Multiple submitters Inborn genetic diseases ⚠
- p.Tyr407His Multiple submitters Inborn genetic diseases ⚠
- p.Val248Ile Multiple submitters beta-ketothiolase deficiency ⚠
- p.Val29Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val86Met Multiple submitters Inborn genetic diseases ⚠
- c.1006-10A>G Single submitter beta-ketothiolase deficiency
- c.239-7A>G Single submitter beta-ketothiolase deficiency
- c.435+4A>G Single submitter beta-ketothiolase deficiency
- c.436-15G>A Single submitter beta-ketothiolase deficiency
- c.72+6C>A Single submitter beta-ketothiolase deficiency
- c.73-3C>T Single submitter beta-ketothiolase deficiency
- c.-22C>T Single submitter beta-ketothiolase deficiency
- c.-5C>T Single submitter beta-ketothiolase deficiency
- c.-70T>A Single submitter beta-ketothiolase deficiency
- c.*291A>C Single submitter beta-ketothiolase deficiency
- c.*344T>C Single submitter beta-ketothiolase deficiency
- c.*365C>T Single submitter beta-ketothiolase deficiency
- c.*384A>C Single submitter beta-ketothiolase deficiency
- c.*393A>G Single submitter beta-ketothiolase deficiency
- c.*397C>T Single submitter beta-ketothiolase deficiency
- c.*464A>G Single submitter beta-ketothiolase deficiency
- c.*553T>A Single submitter beta-ketothiolase deficiency
- c.*55T>C Single submitter beta-ketothiolase deficiency
- c.*574G>C Single submitter beta-ketothiolase deficiency
- c.*591A>T Single submitter beta-ketothiolase deficiency
- c.*668G>T Single submitter beta-ketothiolase deficiency
- c.*675A>C Single submitter beta-ketothiolase deficiency
- c.*703T>C Single submitter beta-ketothiolase deficiency
- p.Ala111= Single submitter beta-ketothiolase deficiency
- p.Ala132Pro Single submitter beta-ketothiolase deficiency ⚠
- p.Ala150Val Single submitter Inborn genetic diseases ⚠
- p.Ala201Val Single submitter beta-ketothiolase deficiency ⚠
- p.Ala224Pro Single submitter beta-ketothiolase deficiency ⚠
- p.Ala280Thr Single submitter beta-ketothiolase deficiency ⚠
- p.Ala2Val Single submitter beta-ketothiolase deficiency ⚠
- p.Ala300Val Single submitter Inborn genetic diseases ⚠
- p.Ala301Val Single submitter beta-ketothiolase deficiency ⚠
- p.Ala328Val Single submitter beta-ketothiolase deficiency ⚠
- p.Ala401Thr Single submitter Inborn genetic diseases ⚠
- p.Ala47Val Single submitter beta-ketothiolase deficiency ⚠
- p.Ala5Val Single submitter beta-ketothiolase deficiency ⚠
- p.Arg15Cys Single submitter beta-ketothiolase deficiency ⚠
- p.Arg208Gly Single submitter beta-ketothiolase deficiency ⚠
- p.Asn205Ser Single submitter Inborn genetic diseases ⚠
- p.Asn217Ile Single submitter Inborn genetic diseases ⚠
- p.Asn282Ser Single submitter Inborn genetic diseases ⚠
- p.Asn287Lys Single submitter ⚠
- p.Asn305Ser Single submitter beta-ketothiolase deficiency ⚠
- p.Asn414Asp Single submitter beta-ketothiolase deficiency ⚠
- p.Cys119Gly Single submitter beta-ketothiolase deficiency ⚠
- p.Cys119Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys142Phe Single submitter beta-ketothiolase deficiency ⚠
- p.Gln101Arg Single submitter ⚠
- p.Gln425Arg Single submitter Inborn genetic diseases ⚠
- p.Glu154Lys Single submitter beta-ketothiolase deficiency ⚠
- p.Glu176Gly Single submitter beta-ketothiolase deficiency ⚠
- p.Glu198Lys Single submitter beta-ketothiolase deficiency ⚠
- p.Glu252Lys Single submitter beta-ketothiolase deficiency ⚠
- p.Glu254Lys Single submitter beta-ketothiolase deficiency ⚠
- p.Glu255Ala Single submitter beta-ketothiolase deficiency ⚠
- p.Glu345Gly Single submitter ⚠
- p.Glu345Lys Single submitter ⚠
- p.Gly11Ser Single submitter beta-ketothiolase deficiency ⚠
- p.Gly396Cys Single submitter Inborn genetic diseases ⚠
- p.Gly396Ser Single submitter Inborn genetic diseases ⚠
- p.Gly408Arg Single submitter beta-ketothiolase deficiency ⚠
- p.Gly408Ser Single submitter Inborn genetic diseases ⚠
- p.Gly408Val Single submitter ⚠
- p.Gly418dup Single submitter beta-ketothiolase deficiency
- p.Gly57Glu Single submitter
- p.His400Arg Single submitter beta-ketothiolase deficiency ⚠
- p.Ile122Arg Single submitter Inborn genetic diseases ⚠
- p.Ile236Thr Single submitter beta-ketothiolase deficiency ⚠
- p.Ile26Val Single submitter beta-ketothiolase deficiency ⚠
- p.Ile312Val Single submitter beta-ketothiolase deficiency ⚠
- p.Ile364Val Single submitter Inborn genetic diseases ⚠
- p.Ile369Val Single submitter beta-ketothiolase deficiency ⚠
- p.Ile424fs Single submitter beta-ketothiolase deficiency
- p.Ile70Thr Single submitter beta-ketothiolase deficiency ⚠
- p.Leu109Trp Single submitter beta-ketothiolase deficiency ⚠
- p.Leu140Phe Single submitter beta-ketothiolase deficiency ⚠
- p.Leu178Phe Single submitter beta-ketothiolase deficiency ⚠
- p.Leu18Val Single submitter Inborn genetic diseases ⚠
- p.Leu4Pro Single submitter beta-ketothiolase deficiency ⚠
- p.Leu4Val Single submitter beta-ketothiolase deficiency ⚠
- p.Leu62del Single submitter
- p.Lys174Asn Single submitter Inborn genetic diseases ⚠
- p.Lys403Arg Single submitter beta-ketothiolase deficiency ⚠
- p.Lys403Ter Single submitter beta-ketothiolase deficiency
- p.Met134Thr Single submitter ⚠
- p.Met135Ile Single submitter beta-ketothiolase deficiency ⚠
- p.Met141Thr Single submitter beta-ketothiolase deficiency ⚠
- p.Met153Ile Single submitter beta-ketothiolase deficiency ⚠
- p.Met366Val Single submitter beta-ketothiolase deficiency ⚠
- p.Met91Ile Single submitter ⚠
- p.Pro114Leu Single submitter Inborn genetic diseases ⚠
- p.Pro17Ala Single submitter beta-ketothiolase deficiency ⚠
- p.Pro17Ser Single submitter beta-ketothiolase deficiency ⚠
- p.Pro237Thr Single submitter beta-ketothiolase deficiency ⚠
- p.Pro326Ala Single submitter beta-ketothiolase deficiency ⚠
- p.Pro326Leu Single submitter Inborn genetic diseases ⚠
- p.Pro329Thr Single submitter ⚠
- p.Ser10Asn Single submitter beta-ketothiolase deficiency ⚠
- p.Ser128Ala Single submitter ⚠
- p.Ser137Phe Single submitter beta-ketothiolase deficiency ⚠
- p.Ser222Arg Single submitter beta-ketothiolase deficiency ⚠
- p.Ser222Gly Single submitter beta-ketothiolase deficiency ⚠
- p.Thr200Ile Single submitter beta-ketothiolase deficiency ⚠
- p.Trp350Arg Single submitter Inborn genetic diseases ⚠
- p.Val159Ile Single submitter beta-ketothiolase deficiency ⚠
- p.Val173Gly Single submitter Inborn genetic diseases ⚠
- p.Val235Ile Single submitter Inborn genetic diseases ⚠
- p.Val250del Single submitter beta-ketothiolase deficiency
- p.Val259Ala Single submitter beta-ketothiolase deficiency ⚠
- p.Val320Ala Single submitter beta-ketothiolase deficiency ⚠
- p.Val340Met Single submitter beta-ketothiolase deficiency ⚠
- p.Val360Ile Single submitter beta-ketothiolase deficiency ⚠
- p.Val381Ala Single submitter ⚠
- p.Val395Leu Single submitter beta-ketothiolase deficiency ⚠
- p.Val45Leu Single submitter beta-ketothiolase deficiency ⚠
- p.Val86Leu Single submitter beta-ketothiolase deficiency ⚠
- c.1006-10A>C No assertion criteria beta-ketothiolase deficiency
- c.121-4C>A No assertion criteria beta-ketothiolase deficiency
- p.Arg20Trp No assertion criteria beta-ketothiolase deficiency ⚠
- p.Asp146Asn No assertion criteria beta-ketothiolase deficiency ⚠
- p.Asp288Gly No assertion criteria beta-ketothiolase deficiency ⚠
- p.Gln245Glu No assertion criteria beta-ketothiolase deficiency ⚠
- p.Gln24Pro No assertion criteria beta-ketothiolase deficiency ⚠
- p.His400Leu No assertion criteria beta-ketothiolase deficiency ⚠
- p.Ile327Met No assertion criteria beta-ketothiolase deficiency ⚠
- p.Lys426Thr No assertion criteria beta-ketothiolase deficiency ⚠
- p.Met130Thr No assertion criteria beta-ketothiolase deficiency ⚠
- p.Phe325Leu No assertion criteria beta-ketothiolase deficiency ⚠
- p.Pro237Ser No assertion criteria beta-ketothiolase deficiency ⚠
- p.Ter428Tyr No assertion criteria beta-ketothiolase deficiency
- p.Thr120Ile No assertion criteria beta-ketothiolase deficiency ⚠
- p.Val187= No assertion criteria beta-ketothiolase deficiency
- p.Val330= No assertion criteria beta-ketothiolase deficiency