HIBCH — 291 ClinVar variants
All ClinVar germline HIBCH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →
10 Pathogenic · 9 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 13 Conflicting · 31 Benign · 9 Benign/Likely benign · 94 Likely benign · 98 Uncertain significance
Full HIBCH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 93
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 8
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
HIBCH p.Arg66Trp
Likely pathogenic
Multiple submitters
HIBCH-related disorders
-
HIBCH p.Cys163Phe
Pathogenic/Likely pathogenic
Multiple submitters
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Thr305Ala
Pathogenic/Likely pathogenic
Multiple submitters
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Asp287Gly
Likely pathogenic
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Cys163Tyr
Likely pathogenic
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Gln71Pro
Likely pathogenic
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.His248Arg
Likely pathogenic
Single submitter
Inborn genetic diseases
-
HIBCH p.Phe259Leu
Likely pathogenic
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
HIBCH p.Ala137Val
Conflicting
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Asp266Asn
Conflicting
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Gly179Asp
Conflicting
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Lys42Arg
Conflicting
Single submitter
Inborn genetic diseases
-
HIBCH p.Phe118Ser
Conflicting
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Tyr122Cys
Conflicting
Single submitter
Inborn genetic diseases
-
HIBCH p.Val277Glu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
HIBCH p.Ala231Val
Uncertain significance
Multiple submitters
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Ala335Val
Uncertain significance
Multiple submitters
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Ala59Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HIBCH p.Arg12Lys
Uncertain significance
Multiple submitters
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Glu80Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HIBCH p.Gly288Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HIBCH p.His215Arg
Uncertain significance
Multiple submitters
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Lys162Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HIBCH p.Met265Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HIBCH p.Met315Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HIBCH p.Phe118Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HIBCH p.Ser219Thr
Uncertain significance
Multiple submitters
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Ser270Gly
Uncertain significance
Multiple submitters
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Val346Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HIBCH p.Ala196Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Ala335Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Ala362Thr
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Arg255Gly
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Arg4Leu
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Arg66Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Asn239Ser
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
- HIBCH p.Asn373Ser Uncertain significance Single submitter
-
HIBCH p.Asp177His
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Asp287Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Asp33Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Cys271Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Cys95Ser
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Gln111Arg
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Gln132Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Gln285Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Gln3Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Glu238Lys
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Gly2Arg
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Gly345Val
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Gly380Glu
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
- HIBCH p.Gly97Arg Uncertain significance Single submitter
-
HIBCH p.His140Gln
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.His248Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.His264Tyr
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.His343Leu
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Ile212Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Ile309Val
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Ile49Val
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
- HIBCH p.Leu184Phe Uncertain significance Single submitter
-
HIBCH p.Leu23Gln
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Leu62Phe
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Lys203Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Lys320Gln
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Met10Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Met28Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- HIBCH p.Met337Val Uncertain significance Single submitter
-
HIBCH p.Phe342Leu
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Pro357Gln
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Ser104Leu
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Ser236Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- HIBCH p.Ser306Phe Uncertain significance Single submitter
-
HIBCH p.Thr19Ser
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Tyr330Ser
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
- HIBCH p.Val152Phe Uncertain significance Single submitter
- HIBCH p.Val178Met Uncertain significance Single submitter
- HIBCH p.Val298Ile Uncertain significance Single submitter
-
HIBCH p.Val325Gly
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Val349Leu
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
Predictors split 15
The independent predictors disagree with each other — read with care.
-
HIBCH p.Leu311Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HIBCH p.Lys320Glu
Uncertain significance
Multiple submitters
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Thr61Ile
Uncertain significance
Multiple submitters
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Arg157Gln
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Asn283Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Glu76Lys
Conflicting
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Gly211Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Gly88Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Ile351Met
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Ile85Phe
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Lys108Asn
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
-
HIBCH p.Lys320Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- HIBCH p.Met328Val Uncertain significance Single submitter
-
HIBCH p.Ser378Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HIBCH p.Thr160Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All HIBCH variants
Pathogenic 10
- p.Arg157Ter Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.517+1G>A Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Arg255Ter Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Gln334Ter Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Glu279Ter Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Gly199Ter Single submitter Inborn genetic diseases
- p.Thr32fs Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.220-9T>G No assertion criteria 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.79-3C>G No assertion criteria 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Gly345Ser No assertion criteria 3-hydroxyisobutyryl-CoA hydrolase deficiency
Pathogenic/Likely pathogenic 9
- c.1010_1011+3del Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.386-1G>C Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.809+1G>A Multiple submitters HIBCH-related disorders
- c.891+1G>A Multiple submitters HIBCH-related disorders
- p.Arg338Ter Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Cys163Phe Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Gly204fs Multiple submitters HIBCH-related disorder
- p.Leu284fs Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Thr305Ala Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
Likely pathogenic 27
- p.Arg66Trp Multiple submitters HIBCH-related disorders ⚠
- p.Gly317Glu Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.His153Tyr Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Lys377Ter Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.1014_1015delAG Single submitter Inborn genetic diseases
- c.304+1G>A Single submitter HIBCH-related disorders
- c.385+2T>A Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.439-1G>A Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.664-2A>G Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Arg186Ter Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Asn374del Single submitter
- p.Asp254Ile Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Asp287Gly Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Cys163Tyr Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Gln285Ter Single submitter HIBCH-related disorders
- p.Gln71Pro Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Gln71Ter Single submitter HIBCH-related disorders
- p.Glu5_Arg12del Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Gly44fs Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.His153Arg Single submitter
- p.His248Arg Single submitter Inborn genetic diseases ⚠
- p.Ile84fs Single submitter
- p.Leu124Pro Single submitter Inborn genetic diseases
- p.Leu187Phe Single submitter HIBCH-related disorders
- p.Phe165fs Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Phe259Leu Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Ser151Leu Single submitter Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
Conflicting classifications of pathogenicity 13
- c.1012-10T>G Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.439-2A>G Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.664-7C>T Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.810-4A>G Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Ala137Val Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Asp266Asn Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Glu76Lys Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Gly179Asp Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Gly345= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Lys42Arg Single submitter Inborn genetic diseases ⚠
- p.Phe118Ser Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Tyr122Cys Single submitter Inborn genetic diseases ⚠
- p.Val277Glu Single submitter Inborn genetic diseases ⚠
Benign 31
- c.1045+105A>C Multiple submitters
- c.1045+141A>G Multiple submitters
- c.304+40T>C Multiple submitters
- c.385+11del Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.517+15T>A Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.517+85T>C Multiple submitters
- c.518-173C>T Multiple submitters
- c.663+19G>T Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.750+131C>T Multiple submitters
- c.750+137A>G Multiple submitters
- c.751-107T>C Multiple submitters
- c.891+165C>T Multiple submitters
- c.891+80G>A Multiple submitters
- c.892-234T>G Multiple submitters
- c.-48G>A Multiple submitters
- c.*154A>T Multiple submitters
- p.Cys163Ser Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Glu245Asp Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Thr46Ala Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.1011+11dup Single submitter
- c.1045+196_1045+197dup Single submitter
- c.1045+196_1045+198dup Single submitter
- c.1045+196_1045+199dup Single submitter
- c.1045+196dup Single submitter
- c.305-33dup Single submitter
- c.36-118del Single submitter
- c.664-16del Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.750+34A>G Single submitter
- c.79-166G>A Single submitter
- c.809+146dup Single submitter
- c.810-176G>T Single submitter
Benign/Likely benign 9
- c.1011+11A>T Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.1011+20del Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.35+8AG[2] Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.438+9A>T Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Leu72= Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Met1Thr Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Ser319= Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Thr81= Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Val346= Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
Likely benign 94
- c.305-71A>G Multiple submitters
- c.36-13A>T Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.438+114A>G Multiple submitters
- c.438+11T>G Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.438+19C>G Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.517+12G>T Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.518-12A>G Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.518-70C>T Multiple submitters
- c.751-41A>G Multiple submitters
- c.79-7T>C Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.892-18A>C Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.-11A>G Multiple submitters
- c.*92C>G Multiple submitters
- p.Gln295= Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Leu184= Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Leu307= Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Ser104= Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Thr321= Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.1011+10dup Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.1011+20A>T Single submitter
- c.1012-16C>G Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.1012-19A>T Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.1045+16G>A Single submitter
- c.1046-124T>A Single submitter
- c.1046-15A>G Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.1046-8C>T Single submitter
- c.219+16A>G Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.220-10A>G Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.220-15G>A Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.304+9T>G Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.305-5C>T Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.35+10A>C Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.35+89C>T Single submitter
- c.36-16T>C Single submitter
- c.386-60dup Single submitter
- c.438+10C>T Single submitter
- c.517+16T>C Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.518-87A>G Single submitter
- c.663+13A>G Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.663+14T>G Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.664-13_664-7del Single submitter
- c.664-18T>C Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.664-8C>T Single submitter
- c.750+9G>A Single submitter
- c.751-19G>T Single submitter
- c.78+15T>C Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.78+17G>A Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.78+8A>G Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.79-16T>C Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.79-4A>T Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.79-9T>C Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.809+12G>C Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.809+19C>T Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.809+91T>C Single submitter
- c.810-18C>G Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.891+16T>C Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.891+18T>C Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.891+19C>T Single submitter
- c.891+9G>A Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.892-7C>T Single submitter
- c.-44C>T Single submitter
- c.-46T>C Single submitter
- c.-69G>T Single submitter
- c.-73C>T Single submitter
- c.*3T>C Single submitter
- p.Arg4Cys Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Arg66= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Asn20= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Asp266= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Asp383= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Gln285Lys Single submitter Inborn genetic diseases
- p.Gln313= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Glu294= Single submitter
- p.Gly288= Single submitter
- p.Gly317= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.His24= Single submitter
- p.Ile299= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Leu261= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Leu284= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Leu350= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Leu364= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Leu51= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Lys110= Single submitter
- p.Lys233= Single submitter
- p.Phe216= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Thr21Ile Single submitter Inborn genetic diseases
- p.Thr46= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Thr50= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Tyr135= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Val243= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Val277= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Val48= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Gly211Val No assertion criteria 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Thr143Lys No assertion criteria 3-hydroxyisobutyryl-CoA hydrolase deficiency
Uncertain significance 98
- c.751-4A>G Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Ala231Val Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Ala335Val Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Ala59Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg12Lys Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Glu278Lys Multiple submitters Inborn genetic diseases
- p.Glu80Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly288Ala Multiple submitters Inborn genetic diseases ⚠
- p.His215Arg Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Leu311Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys162Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys320Glu Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Met265Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met315Ile Multiple submitters Inborn genetic diseases ⚠
- p.Phe118Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser219Thr Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Ser270Gly Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Thr61Ile Multiple submitters 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Val346Ile Multiple submitters Inborn genetic diseases ⚠
- c.386-286T>G Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.438+4A>G Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- c.751-5_751-2del Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Ala196Thr Single submitter Inborn genetic diseases ⚠
- p.Ala335Ser Single submitter Inborn genetic diseases ⚠
- p.Ala362Thr Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Ala96= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Arg157Gln Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Arg255Gly Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Arg331Trp Single submitter mitochondrial disease
- p.Arg4Leu Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Arg66Gln Single submitter Inborn genetic diseases ⚠
- p.Asn239Ser Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Asn283Asp Single submitter Inborn genetic diseases ⚠
- p.Asn373Ser Single submitter ⚠
- p.Asp177His Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Asp206Asn Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Asp287Glu Single submitter Inborn genetic diseases ⚠
- p.Asp33Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys271Ser Single submitter Inborn genetic diseases ⚠
- p.Cys95Ser Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Gln111Arg Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Gln132Arg Single submitter Inborn genetic diseases ⚠
- p.Gln285Glu Single submitter Inborn genetic diseases ⚠
- p.Gln3Pro Single submitter Inborn genetic diseases ⚠
- p.Glu238Lys Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Glu250= Single submitter
- p.Glu263del Single submitter
- p.Gly211Glu Single submitter Inborn genetic diseases ⚠
- p.Gly2Arg Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Gly345Val Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Gly380Glu Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Gly88Ala Single submitter Inborn genetic diseases ⚠
- p.Gly97Arg Single submitter ⚠
- p.His140Gln Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.His248Gln Single submitter Inborn genetic diseases ⚠
- p.His264Tyr Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.His343Leu Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Ile212Thr Single submitter Inborn genetic diseases ⚠
- p.Ile309Phe Single submitter
- p.Ile309Val Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Ile351Met Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Ile49Val Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Ile85Phe Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Leu184Phe Single submitter ⚠
- p.Leu23Gln Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Leu62Phe Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Lys108Asn Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Lys203Gln Single submitter Inborn genetic diseases ⚠
- p.Lys320Asn Single submitter Inborn genetic diseases ⚠
- p.Lys320Gln Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Lys73= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Lys74= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Met10Leu Single submitter Inborn genetic diseases ⚠
- p.Met144Val Single submitter Inborn genetic diseases
- p.Met1Ile Single submitter
- p.Met28Thr Single submitter Inborn genetic diseases ⚠
- p.Met328Val Single submitter ⚠
- p.Met337Val Single submitter ⚠
- p.Phe165= Single submitter
- p.Phe342Leu Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Phe376fs Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Pro357Gln Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Ser104Leu Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Ser236Leu Single submitter Inborn genetic diseases ⚠
- p.Ser306Phe Single submitter ⚠
- p.Ser378Tyr Single submitter Inborn genetic diseases ⚠
- p.Thr160Ala Single submitter Inborn genetic diseases ⚠
- p.Thr198= Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Thr19Ser Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Thr368Ile Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency
- p.Trp7Ter Single submitter Inborn genetic diseases
- p.Tyr330Ser Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Val152Phe Single submitter ⚠
- p.Val178Met Single submitter ⚠
- p.Val298Ile Single submitter ⚠
- p.Val325Gly Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Val349Leu Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Val48Ala Single submitter