MMADHC — 361 ClinVar variants
All ClinVar germline MMADHC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →
27 Pathogenic · 11 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 10 Conflicting · 20 Benign · 7 Benign/Likely benign · 167 Likely benign · 92 Uncertain significance
Full MMADHC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 76
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MMADHC p.Asp246Gly
Conflicting
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Lys172Thr
Conflicting
Single submitter
Disorders of Intracellular Cobalamin Metabolism
Predictors lean, ClinVar uncertain 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MMADHC p.Ala104Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMADHC p.Ala46Pro
Uncertain significance
Multiple submitters
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Arg145Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMADHC p.Arg248Cys
Uncertain significance
Multiple submitters
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Asn85Ser
Uncertain significance
Multiple submitters
Disorders of Intracellular Cobalamin Metabolism
-
MMADHC p.His43Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMADHC p.Ile279Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMADHC p.Met186Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMADHC p.Thr152Arg
Uncertain significance
Multiple submitters
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Arg216Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMADHC p.Arg248His
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Asn121Ser
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Asn27Ser
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Asn282Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMADHC p.Asp160Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMADHC p.Asp246Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- MMADHC p.Gln124His Uncertain significance Single submitter
- MMADHC p.Gln124Leu Uncertain significance Single submitter
-
MMADHC p.Glu133Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMADHC p.Glu138Asp
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Glu147Val
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Gly125Arg
Uncertain significance
Single submitter
Disorders of Intracellular Cobalamin Metabolism
-
MMADHC p.His112Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMADHC p.His267Arg
Uncertain significance
Single submitter
Disorders of Intracellular Cobalamin Metabolism
-
MMADHC p.His43Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMADHC p.Ile51Thr
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Lys203Glu
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Pro154Arg
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Ser136Gly
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Ser255Cys
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Thr179Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMADHC p.Trp270Arg
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Tyr213Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMADHC p.Val130Phe
Uncertain significance
Single submitter
isolated methylmalonic aciduria cblD type
-
MMADHC p.Val188Ile
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Val25Leu
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Val56Met
Uncertain significance
Single submitter
Disorders of Intracellular Cobalamin Metabolism
-
MMADHC p.Val95Ala
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Cys261Gly
Uncertain significance
No assertion criteria
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Glu122Asp
Uncertain significance
No assertion criteria
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Met290Arg
Uncertain significance
No assertion criteria
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Met62Leu
Uncertain significance
No assertion criteria
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Phe243Leu
Uncertain significance
No assertion criteria
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Ser278Asn
Uncertain significance
No assertion criteria
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Ser294Arg
Uncertain significance
No assertion criteria
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Trp189Arg
Uncertain significance
No assertion criteria
methylmalonic aciduria and homocystinuria type cblD
Predictors split 28
The independent predictors disagree with each other — read with care.
-
MMADHC p.Cys82Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMADHC p.Glu122Lys
Uncertain significance
Multiple submitters
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Gly38Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMADHC p.Phe161Ile
Uncertain significance
Multiple submitters
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Pro236Leu
Likely benign
Multiple submitters
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Tyr14Cys
Uncertain significance
Multiple submitters
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Val25Phe
Uncertain significance
Multiple submitters
Disorders of Intracellular Cobalamin Metabolism
-
MMADHC p.Ala117Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMADHC p.Arg216Gly
Conflicting
Single submitter
Disorders of Intracellular Cobalamin Metabolism
-
MMADHC p.Arg266Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMADHC p.Arg266His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMADHC p.Arg71Lys
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Asp286Ala
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Asp50Gly
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Asp59Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMADHC p.Cys82Gly
Uncertain significance
Single submitter
Disorders of Intracellular Cobalamin Metabolism
-
MMADHC p.Glu110Gly
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
- MMADHC p.Gly253Arg Uncertain significance Single submitter
-
MMADHC p.Gly66Arg
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Gly79Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMADHC p.Leu242Val
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Met62Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMADHC p.Met62Val
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Pro100Leu
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Pro58Ala
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Val256Leu
Uncertain significance
Single submitter
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Asp59Glu
Uncertain significance
No assertion criteria
methylmalonic aciduria and homocystinuria type cblD
-
MMADHC p.Glu202Gly
Uncertain significance
No assertion criteria
methylmalonic aciduria and homocystinuria type cblD
All MMADHC variants
Pathogenic 27
- p.Arg158Ter Multiple submitters methylmalonic aciduria and homocystinuria type cblC
- p.Cys19_Ser20insTer Multiple submitters MMADHC-related disorders
- p.Gln180Ter Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Arg145Ter Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Arg197fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Arg54Ter Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Arg8fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Asn77fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Asp81delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Cys153fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Cys212fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Gln118Ter Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Gln68Ter Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Glu131fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.His43fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.His83_Leu84insArgPheTer Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ile51fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Leu21fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Leu231Ter Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Leu99fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Lys183fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Trp189Ter Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Trp57Ter Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Tyr213fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Val102fs Single submitter
- p.Leu103_Ser108dup No assertion criteria isolated methylmalonic aciduria cblD type
- p.Thr182Asn No assertion criteria homocystinuria-megaloblastic anemia cblD type
Pathogenic/Likely pathogenic 11
- c.10-1G>A Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- c.154+1G>A Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Arg216Ter Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Arg250Ter Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Gly219fs Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Leu259Pro Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Ser228Ter Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Thr182fs Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Trp221Ter Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Tyr140Ter Multiple submitters MMADHC-related disorders
- p.Tyr249Cys Multiple submitters methylmalonic aciduria and homocystinuria type cblC
Likely pathogenic 27
- c.10-1G>C Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- c.610-1G>A Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Leu242_Phe243insTer Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Val188fs Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- c.10-2A>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.154+1G>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.154+2T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.155-2A>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.372+1G>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.372+1G>T Single submitter methylmalonic aciduria and homocystinuria type cblC
- c.373-1G>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.373-2A>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.478+1G>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.479-2A>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.696+3_696+6del Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ala222fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Gln124fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Gln68fs Single submitter methylmalonic aciduria and homocystinuria type cblC
- p.Gln90Ter Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Glu247Ter Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Leu252Ter Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Met186fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Phe161fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Phe165fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ser37Ter Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ser53fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Trp189_Glu191delinsTer Single submitter methylmalonic aciduria and homocystinuria type cblD
Conflicting classifications of pathogenicity 10
- c.609+8_609+100del Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.696+13C>A Single submitter Disorders of Intracellular Cobalamin Metabolism
- p.Arg216Gly Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
- p.Asp246Gly Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Gly235fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Gly253= Single submitter Disorders of Intracellular Cobalamin Metabolism
- p.Leu200= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Lys172Thr Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
- p.Thr245= Single submitter Disorders of Intracellular Cobalamin Metabolism
- p.Val193Ala Single submitter Disorders of Intracellular Cobalamin Metabolism
Benign 20
- c.10-30C>T Multiple submitters
- c.373-72G>C Multiple submitters
- c.478+134G>A Multiple submitters
- c.478+6T>G Multiple submitters Disorders of Intracellular Cobalamin Metabolism
- c.479-114C>A Multiple submitters
- c.696+83G>A Multiple submitters
- c.*126A>G Multiple submitters Disorders of Intracellular Cobalamin Metabolism
- c.*164A>G Multiple submitters Disorders of Intracellular Cobalamin Metabolism
- c.*89T>C Multiple submitters Disorders of Intracellular Cobalamin Metabolism
- p.Gln151= Multiple submitters Disorders of Intracellular Cobalamin Metabolism
- c.154+173_154+174insAAAAAG Single submitter
- c.155-11dup Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.155-16del Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.372+243A>C Single submitter
- c.372+54_372+55dup Single submitter
- c.478+261A>T Single submitter
- c.478+266_478+267del Single submitter
- c.609+322_609+333del Single submitter
- c.9+255del Single submitter
- p.Asn282= Single submitter methylmalonic aciduria and homocystinuria type cblD
Benign/Likely benign 7
- c.479-22G>C Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Arg158Gln Multiple submitters Disorders of Intracellular Cobalamin Metabolism
- p.Asn206Ser Multiple submitters Disorders of Intracellular Cobalamin Metabolism
- p.Glu138Lys Multiple submitters Disorders of Intracellular Cobalamin Metabolism
- p.Lys29Asn Multiple submitters Disorders of Intracellular Cobalamin Metabolism
- p.Ser143Ile Multiple submitters Disorders of Intracellular Cobalamin Metabolism
- p.Tyr140= Multiple submitters methylmalonic aciduria and homocystinuria type cblD
Likely benign 167
- c.478+27A>T Multiple submitters
- c.609+13A>G Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- c.610-95T>C Multiple submitters
- c.9+17T>A Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Asn170= Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.His273= Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Leu156= Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Pro236Leu Multiple submitters methylmalonic aciduria and homocystinuria type cblD ⚠
- c.10-11G>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.10-13G>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.10-179T>A Single submitter
- c.10-9C>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.154+17A>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.154+187G>A Single submitter
- c.154+20G>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.154+9A>T Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.155-10T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.155-12_155-10del Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.155-16T>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.155-17T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.155-38A>G Single submitter
- c.155-6C>T Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.155-7T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.155-8C>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.372+12G>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.372+17A>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.372+19_372+20del Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.372+7T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.372+8G>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.372+8G>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.372+8G>T Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.373-10dup Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.373-13T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.373-13T>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.373-14C>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.373-16T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.373-18T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.373-4T>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.373-5C>T Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.373-8C>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.373-8C>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.373-8C>T Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.478+10G>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.478+11C>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.478+12T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.478+15A>T Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.478+19T>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.478+7C>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.478+7C>T Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.478+8A>T Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.478+9T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.479-11_479-9del Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.479-13T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.479-15T>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.479-18G>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.479-20A>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.479-232del Single submitter
- c.479-4G>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.479-6T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.479-7T>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.479-7T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.479-8A>T Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.609+11C>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.609+14T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.609+167T>G Single submitter
- c.609+8T>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.610-12C>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.610-12C>T Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.610-13A>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.610-192T>G Single submitter
- c.610-4G>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.610-8C>T Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.610-8del Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.610-9C>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.610-9C>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.696+16T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.696+17T>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.697-10A>G Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.697-16G>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.697-17C>T Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.697-18del Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.697-21_697-7dup Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.697-4T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.697-5C>T Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.9+16C>T Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.9+19A>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ala144= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ala169= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ala208= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ala222= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ala30= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ala46= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ala9= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Arg10= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Arg111= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Arg54= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Arg71= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Asn206= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Asp185= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Asp226= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Asp40= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Asp50= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Asp69= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Cys153= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Cys19= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Glu131= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Glu162= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Glu196= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Glu210= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Glu247= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Glu41= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Gly171= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Gly295= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Gly35= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Gly79= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.His288= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.His83= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ile134= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ile175= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ile195= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ile205= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ile265= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ile78= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Leu103= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Leu157= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Leu173= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Leu201= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Leu293= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Leu84= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Lys183= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Lys292= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Phe114= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Phe204= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Phe224= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Phe280= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Pro106= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Pro16= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Pro236= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Pro285= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Pro64= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ser13= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ser228= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ser255= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ser32= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ser36= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ser37= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ser39= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Ter297= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Thr152= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Thr177= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Thr179= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Thr187= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Thr238= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Thr241= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Thr33= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Thr55= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Tyr213= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Tyr220= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Tyr237= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Val120= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Val146= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Val178= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Val199= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Val274= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Val275= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Val276= Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Val56= Single submitter methylmalonic aciduria and homocystinuria type cblD
Uncertain significance 92
- c.155-3C>T Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- c.609+6T>C Multiple submitters methylmalonic aciduria and homocystinuria type cblD
- p.Ala104Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala46Pro Multiple submitters methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Arg145Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg248Cys Multiple submitters methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Asn85Ser Multiple submitters Disorders of Intracellular Cobalamin Metabolism ⚠
- p.Cys82Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Glu122Lys Multiple submitters methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Gly38Val Multiple submitters Inborn genetic diseases ⚠
- p.His43Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile279Val Multiple submitters Inborn genetic diseases ⚠
- p.Met186Thr Multiple submitters Inborn genetic diseases ⚠
- p.Phe161Ile Multiple submitters methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Thr152Arg Multiple submitters methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Tyr14Cys Multiple submitters methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Val25Phe Multiple submitters Disorders of Intracellular Cobalamin Metabolism ⚠
- c.10-3T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
- c.373-5C>A Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.478+4T>C Single submitter methylmalonic aciduria and homocystinuria type cblD
- c.697-3C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
- c.*241A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
- c.*267T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
- p.Ala117Val Single submitter Inborn genetic diseases ⚠
- p.Arg216Gln Single submitter Inborn genetic diseases ⚠
- p.Arg248His Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Arg266Cys Single submitter Inborn genetic diseases ⚠
- p.Arg266His Single submitter Inborn genetic diseases ⚠
- p.Arg71Lys Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Asn121Ser Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Asn27Ser Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Asn282Ser Single submitter Inborn genetic diseases ⚠
- p.Asp160Gly Single submitter Inborn genetic diseases ⚠
- p.Asp246Asn Single submitter Inborn genetic diseases ⚠
- p.Asp286Ala Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Asp50Gly Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Asp59Ala Single submitter Inborn genetic diseases ⚠
- p.Cys82Gly Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
- p.Gln124His Single submitter ⚠
- p.Gln124Leu Single submitter ⚠
- p.Glu110Gly Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Glu133Asp Single submitter Inborn genetic diseases ⚠
- p.Glu138Asp Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Glu147Val Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Glu192del Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Gly125Arg Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
- p.Gly253Arg Single submitter ⚠
- p.Gly66Arg Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Gly79Asp Single submitter Inborn genetic diseases ⚠
- p.His112Gln Single submitter Inborn genetic diseases ⚠
- p.His267Arg Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
- p.His43Pro Single submitter Inborn genetic diseases ⚠
- p.Ile150Thr Single submitter Inborn genetic diseases
- p.Ile225del Single submitter
- p.Ile51Thr Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Leu242Val Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Lys203Glu Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Lys263Ter Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Met62Ile Single submitter Inborn genetic diseases ⚠
- p.Met62Val Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Phe233= Single submitter Disorders of Intracellular Cobalamin Metabolism
- p.Pro100Leu Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Pro154Arg Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Pro58Ala Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Ser136Gly Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Ser255Cys Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Ser255fs Single submitter methylmalonic aciduria and homocystinuria type cblD
- p.Thr179Ile Single submitter Inborn genetic diseases ⚠
- p.Trp270Arg Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Tyr213Cys Single submitter Inborn genetic diseases ⚠
- p.Val130Phe Single submitter isolated methylmalonic aciduria cblD type ⚠
- p.Val188Ile Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Val256Leu Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Val25Leu Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Val56Leu Single submitter Inborn genetic diseases
- p.Val56Met Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
- p.Val95Ala Single submitter methylmalonic aciduria and homocystinuria type cblD ⚠
- c.696+8A>C No assertion criteria methylmalonic aciduria and homocystinuria type cblD
- p.Asn239Asp No assertion criteria methylmalonic aciduria and homocystinuria type cblD
- p.Asp59Glu No assertion criteria methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Cys261Gly No assertion criteria methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Glu122Asp No assertion criteria methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Glu202Gly No assertion criteria methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Leu259= No assertion criteria methylmalonic aciduria and homocystinuria type cblD
- p.Met290Arg No assertion criteria methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Met62Leu No assertion criteria methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Phe243Leu No assertion criteria methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Ser278Asn No assertion criteria methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Ser294Arg No assertion criteria methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Ter297Lys No assertion criteria methylmalonic aciduria and homocystinuria type cblD
- p.Trp189Arg No assertion criteria methylmalonic aciduria and homocystinuria type cblD ⚠
- p.Val56Ala No assertion criteria methylmalonic aciduria and homocystinuria type cblD