ABCD4 — 536 ClinVar variants

All ClinVar germline ABCD4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 177 flagged for review →

21 Pathogenic · 3 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 13 Conflicting · 88 Benign · 9 Benign/Likely benign · 203 Likely benign · 179 Uncertain significance

Full ABCD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 177

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 1

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

ABCD4 p.Gly486Cys Pathogenic No assertion criteria
methylmalonic acidemia with homocystinuria, type cblJ

Predictors agree, ClinVar conflicts 6

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

ABCD4 p.Arg471Trp Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Asp489Asn Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Gln530Leu Conflicting Single submitter
Inborn genetic diseases
ABCD4 p.Gly186Arg Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Leu47Phe Conflicting Single submitter
Inborn genetic diseases
ABCD4 p.Tyr319Cys Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblJ

Predictors lean, ClinVar uncertain 96

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

ABCD4 p.Ala507Glu Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Ala545Thr Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Arg121His Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Arg251His Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Arg252Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Arg391Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Arg442Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Gln446Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Gln530Lys Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Glu413Lys Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Leu204Ser Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Phe169Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Pro14Ala Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Pro397Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Ser560Gly Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Tyr130His Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Tyr298Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Tyr563Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Val287Ile Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Arg13Ser Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Arg145Cys Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Arg145Gly Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Arg145Leu Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Arg230Gln Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Arg230Trp Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Arg531Gln Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Arg602Thr Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Asn133Ser Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Asn232Ile Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Asn422Ser Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Asp140Ala Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Asp140Asn Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Asp484Asn Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Asp75Glu Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Gln254Arg Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Gln54Leu Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Gln580His Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Gln66Glu Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Glu151Gln Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Glu362Lys Uncertain significance Single submitter
ABCD4 p.Glu366Lys Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Glu480Asp Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Glu510Gln Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Glu510Gly Uncertain significance Single submitter
ABCD4 p.Gly126Arg Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Gly296Arg Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Gly345Val Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Gly468Arg Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Gly69Glu Uncertain significance Single submitter
ABCD4 p.His118Tyr Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.His342Arg Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.His342Gln Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.His586Asp Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Ile274Asn Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Ile419Val Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Leu31Trp Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Leu347Pro Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Leu540Val Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Leu76Ser Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Lys604Glu Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Met160Ile Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Met247Leu Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Met264Ile Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Met354Val Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Phe222Leu Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Phe224Leu Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Phe238Leu Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Phe464Leu Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Pro14Leu Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Pro168Leu Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Pro168Thr Uncertain significance Single submitter
ABCD4 p.Pro375Leu Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Pro397His Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Ser311Asn Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Ser331Tyr Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Ser525Cys Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Ser560Arg Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Ser581Arg Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Thr103Ile Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Thr170Asn Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Thr198Ile Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Thr332Met Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Thr428Ile Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Thr439Arg Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Trp518Cys Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Trp598Cys Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Tyr174Cys Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Tyr193Cys Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Tyr476His Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Val150Met Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Val199Leu Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Val337Met Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Val3Gly Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Val605Ala Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Val70Asp Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Gly426Cys Uncertain significance No assertion criteria

Predictors split 74

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

ABCD4 p.Ala7Val Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Arg127Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Arg136Trp Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Arg348Trp Benign Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Arg579Gln Benign/Likely benign Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Asp489Glu Likely benign Multiple submitters
Inborn genetic diseases
ABCD4 p.Gln156Leu Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Gln215Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Gly365Cys Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Gly566Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Leu122Phe Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Leu157Val Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Leu171Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Leu44Gln Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Leu537Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Lys225Asn Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Pro8Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Ser189Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Thr333Met Likely benign Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Thr341Met Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Thr350Arg Benign Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Thr449Met Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Val134Met Uncertain significance Multiple submitters
Inborn genetic diseases
ABCD4 p.Val30Gly Uncertain significance Multiple submitters
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Ala12Val Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Ala2Val Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Ala314Val Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Ala545Ser Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Arg136Gln Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Arg152Gln Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Arg155Trp Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Arg251Cys Conflicting Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Arg442Trp Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Arg471Gln Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Arg564His Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Asp329Asn Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Asp336Asn Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Gln541Glu Uncertain significance Single submitter
ABCD4 p.Glu267Asp Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Glu53Lys Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Gly192Val Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Gly414Arg Uncertain significance Single submitter
ABCD4 p.Gly436Ser Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.His118Leu Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.His243Tyr Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Ile166Thr Likely benign Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Ile475Thr Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Leu327Val Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Leu430Phe Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Leu431Phe Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Leu592Phe Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Met205Val Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Phe124Leu Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Phe451Ser Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Pro207Thr Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Pro453Ser Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Pro526Leu Uncertain significance Single submitter
ABCD4 p.Ser167Tyr Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Ser503Tyr Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Ser587Cys Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Thr175Ala Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Thr259Ser Likely benign Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Thr350Met Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Thr439Met Conflicting Single submitter
Inborn genetic diseases
ABCD4 p.Thr572Met Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Tyr239Cys Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Tyr340Cys Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Val109Met Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Val213Leu Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Val445Met Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Val456Ala Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Val516Met Uncertain significance Single submitter
Inborn genetic diseases
ABCD4 p.Val56Met Uncertain significance Single submitter
methylmalonic acidemia with homocystinuria, type cblJ
ABCD4 p.Val60Ala Uncertain significance Single submitter
Inborn genetic diseases

All ABCD4 variants

Pathogenic 21

c.542+1G>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Ser416fs Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Trp377fs Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Arg125fs Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Arg152Ter Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Arg432fs Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Arg536Ter Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Asp406fs Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Gln148Ter Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Gln177Ter Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gln215fs Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Glu480Ter Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Gly183_Trp184insTer Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Gly426Ser Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Leu44fs Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Phe387fs Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Thr449fs Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Tyr476fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Val3fs Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Glu583fs No assertion criteria methylmalonic acidemia with homocystinuria, type cblJ
p.Gly486Cys No assertion criteria methylmalonic acidemia with homocystinuria, type cblJ ⚠

Pathogenic/Likely pathogenic 3

p.Asn141Lys Multiple submitters methylmalonic aciduria and homocystinuria type cblC
p.Gln530Ter Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Tyr176Ter Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ

Likely pathogenic 20

p.Ala237fs Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Arg432Gln Multiple submitters methylmalonic aciduria and homocystinuria type cblC
c.1118+1G>A Single submitter methylmalonic aciduria and homocystinuria type cblC
c.1118+1G>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1118+2T>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1457-1G>C Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.158-1G>C Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.285+1G>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.426-1G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.669-1G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.669-2A>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.719+2T>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.936+1G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Gln101fs Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Glu413Ter Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Leu257fs Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Leu448fs Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ser189fs Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ser533fs Single submitter methylmalonic aciduria and homocystinuria type cblC
p.Thr276fs Single submitter methylmalonic acidemia with homocystinuria, type cblJ

Conflicting classifications of pathogenicity 13

c.1752+2T>C Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1753-12G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.426-4C>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Arg251Cys Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Arg471Trp Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Asp489Asn Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Gln530Leu Single submitter Inborn genetic diseases ⚠
p.Glu556fs Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Gly186Arg Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Leu47Phe Single submitter Inborn genetic diseases ⚠
p.Leu82fs Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Thr439Met Single submitter Inborn genetic diseases ⚠
p.Tyr319Cys Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠

Benign 88

c.1028+52C>A Multiple submitters
c.1028+6G>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.1028+79A>G Multiple submitters
c.1029-43C>T Multiple submitters
c.1119-90C>T Multiple submitters
c.1419+191T>C Multiple submitters
c.1419+191T>G Multiple submitters
c.1419+21T>C Multiple submitters
c.1420-26T>C Multiple submitters
c.1456+302A>G Multiple submitters
c.1457-164A>G Multiple submitters
c.1457-173C>G Multiple submitters
c.1457-208T>C Multiple submitters
c.1457-209T>A Multiple submitters
c.1559+153T>C Multiple submitters
c.1560-12A>C Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.157+165G>A Multiple submitters
c.1636+10C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.1637-48G>A Multiple submitters
c.1752+41C>T Multiple submitters
c.1752+5C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.1753-46A>G Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.285+162G>A Multiple submitters
c.285+171A>G Multiple submitters
c.286-142A>C Multiple submitters
c.286-154C>T Multiple submitters
c.39-157C>T Multiple submitters
c.425+225C>T Multiple submitters
c.425+297C>T Multiple submitters
c.425+48T>A Multiple submitters
c.426-219A>G Multiple submitters
c.426-302A>G Multiple submitters
c.543-88T>C Multiple submitters
c.668+7C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.669-11_669-8del Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.669-13T>G Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.669-6G>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.669-82C>G Multiple submitters
c.719+127C>T Multiple submitters
c.719+155C>T Multiple submitters
c.719+267T>C Multiple submitters
c.720-123T>G Multiple submitters
c.720-135C>G Multiple submitters
c.814+125A>G Multiple submitters
c.814+135G>A Multiple submitters
c.815-13G>C Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.815-83C>T Multiple submitters
c.*120A>G Multiple submitters
c.*188C>T Multiple submitters
c.*23G>A Multiple submitters
c.*262T>G Multiple submitters
c.*52G>A Multiple submitters
c.*57G>C Multiple submitters
p.Ala304Thr Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Ala4Pro Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Arg348Trp Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Gly511= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Leu164= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Leu327= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Leu434= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Leu62= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Thr341= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Thr350Arg Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Tyr286= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.1118+196dup Single submitter
c.1118+212C>G Single submitter
c.1119-163T>C Single submitter
c.1119-172G>C Single submitter
c.1119-185del Single submitter
c.1119-205_1119-204dup Single submitter
c.1119-205dup Single submitter
c.1420-11dup Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1456+317dup Single submitter
c.1456+67_1456+68del Single submitter
c.1507-11G>C Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1636+174del Single submitter
c.1636+234CTTTT[3] Single submitter
c.1636+256_1636+258del Single submitter
c.1636+257_1636+258del Single submitter
c.1636+258del Single submitter
c.1636+273_1636+274del Single submitter
c.1637-187T>G Single submitter
c.285+290A>G Single submitter
c.38+276G>A Single submitter
c.543-116G>A Single submitter
c.543-174A>G Single submitter
c.543-24_543-22dup Single submitter
c.937-17C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ

Benign/Likely benign 9

c.543-14T>C Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Ala128Val Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Arg252= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Arg348Gln Multiple submitters Inborn genetic diseases
p.Arg579Gln Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Gln59Arg Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Glu368Lys Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Ser65= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Val172Ile Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ

Likely benign 203

c.1118+9C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.1327+8C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.1419+127G>A Multiple submitters
c.1419+58G>C Multiple submitters
c.1420-194A>G Multiple submitters
c.1507-18C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.1559+20G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.158-75G>A Multiple submitters
c.1753-18G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.1753-4G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.286-122C>T Multiple submitters
c.38+20A>G Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.39-141C>T Multiple submitters
c.425+7G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.542+42G>T Multiple submitters
c.669-113G>A Multiple submitters
c.719+240G>A Multiple submitters
p.Ala379Val Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Arg125Gln Multiple submitters Inborn genetic diseases
p.Arg348Leu Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Arg579= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Asp489Glu Multiple submitters Inborn genetic diseases ⚠
p.Cys361= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Gln19= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Gln568= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Gly570= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Ile272= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Ile289= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Leu352= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Lys410= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Thr198= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Thr333Met Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Thr423= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Thr439= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Val506= Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.1028+16A>C Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1028+17C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1028+19C>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1028+20C>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1028+8C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1028+9G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1028+9G>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1029-14C>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1118+11G>C Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1119-10T>C Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1119-205_1119-203dup Single submitter
c.1119-20C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1327+8C>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1327+9C>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1328-18T>C Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1328-19G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1419+15G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1419+183A>G Single submitter
c.1420-81_1420-75dup Single submitter
c.1456+13T>C Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1456+14C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1456+9G>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1457-17G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1457-17G>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1457-18G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1507-11G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1507-4A>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1559+13C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1559+16G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1560-138A>G Single submitter
c.1560-15C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.157+15C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.158-108G>A Single submitter
c.158-14C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.158-7C>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.158-7C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.158-93C>T Single submitter
c.1636+12C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1636+16G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1637-10G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1637-146C>G Single submitter
c.1637-15G>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1637-297A>G Single submitter
c.1637-6C>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1637-7C>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1752+7G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1752+8T>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.285+18C>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.285+19T>C Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.286-10C>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.286-153G>A Single submitter
c.286-72C>T Single submitter
c.38+16G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.38+18G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.38+276del Single submitter
c.39-19C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.425+13A>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.425+207G>T Single submitter
c.426-11A>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.542+20C>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.543-11C>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.543-146A>C Single submitter
c.543-171T>C Single submitter
c.543-17CT[3] Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.543-17CT[4] Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.543-7A>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.668+9C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.669-173C>G Single submitter
c.669-51T>G Single submitter
c.669-6G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.669-7C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.719+11A>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.719+21C>A Single submitter
c.720-60G>A Single submitter
c.814+13G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.814+7G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.815-13G>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.936+11C>G Single submitter
c.936+20A>C Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.936+20A>G Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.937-13C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.937-20C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.-22A>G Single submitter
c.-29G>A Single submitter
c.*5C>T Single submitter
p.Ala2= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ala233= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ala304= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ala396= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ala4= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ala500Thr Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ala507Thr Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ala535= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Arg127= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Asn73= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Asp114= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Asp149= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Asp467= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Asp489= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Asp513= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Gln144= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Gln38= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Gln446= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Gln515= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Glu219= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Glu606= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Gly11= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Gly186= Single submitter
p.Gly376= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Gly452= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Gly455= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Gly501= Single submitter
p.His118= Single submitter
p.His120= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ile166Thr Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Ile411= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ile419= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ile493Thr Single submitter Inborn genetic diseases
p.Ile565= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Leu107= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Leu171= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Leu185= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Leu270= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Leu301= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Leu309= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Leu41= Single submitter
p.Leu457= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Leu497= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Leu499= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Leu532= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Leu569= Single submitter
p.Lys217= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Phe179= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Phe191= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Phe222= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Phe24= Single submitter
p.Pro168= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Pro292= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Pro303= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Pro375= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Pro477= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Pro483= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Pro526= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Pro542= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Pro8= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ser282= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ser295= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ser398= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ser412= Single submitter
p.Ser560= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Thr131= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Thr259Ser Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Thr332= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Thr350= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Thr449= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Thr572= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Thr83= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Tyr173= Single submitter
p.Tyr173Cys Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Tyr176= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Tyr544= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Val287= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Val3= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Val310= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Val474= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1506+63A>G No assertion criteria ABCD4-related disorder
c.542+6G>A No assertion criteria ABCD4-related disorder
p.Pro6= No assertion criteria ABCD4-related disorder

Uncertain significance 179

c.1028+5G>A Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.425+6C>T Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
c.719+6T>C Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ
p.Ala507Glu Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Ala545Thr Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Ala7Val Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Arg121His Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Arg127Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg136Trp Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Arg251His Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Arg252Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg391Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg442Gln Multiple submitters Inborn genetic diseases ⚠
p.Gln156Leu Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Gln215Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln446Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln530Lys Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Glu413Lys Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Gly365Cys Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Gly566Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu122Phe Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Leu157Val Multiple submitters Inborn genetic diseases ⚠
p.Leu171Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu204Ser Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Leu44Gln Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Leu537Ile Multiple submitters Inborn genetic diseases ⚠
p.Lys225Asn Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Phe169Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro14Ala Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Pro397Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro8Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser189Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser560Gly Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Thr341Met Multiple submitters Inborn genetic diseases ⚠
p.Thr449Met Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Tyr130His Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Tyr298Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr563Cys Multiple submitters Inborn genetic diseases ⚠
p.Val134Met Multiple submitters Inborn genetic diseases ⚠
p.Val287Ile Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Val30Gly Multiple submitters methylmalonic acidemia with homocystinuria, type cblJ ⚠
c.1328-10G>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1420-3del Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1507-3_1507-2dup Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.1559+7_1559+11del Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.286-3C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.286-7T>A Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.814+6C>T Single submitter methylmalonic acidemia with homocystinuria, type cblJ
c.936+5G>A Single submitter
p.Ala128= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Ala12Val Single submitter Inborn genetic diseases ⚠
p.Ala2Val Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Ala314Val Single submitter Inborn genetic diseases ⚠
p.Ala545Ser Single submitter Inborn genetic diseases ⚠
p.Arg136Gln Single submitter Inborn genetic diseases ⚠
p.Arg13Ser Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Arg145Cys Single submitter Inborn genetic diseases ⚠
p.Arg145Gly Single submitter Inborn genetic diseases ⚠
p.Arg145Leu Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Arg152Gln Single submitter Inborn genetic diseases ⚠
p.Arg155Trp Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Arg230Gln Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Arg230Trp Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Arg442= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Arg442Trp Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Arg471Gln Single submitter Inborn genetic diseases ⚠
p.Arg531Gln Single submitter Inborn genetic diseases ⚠
p.Arg564His Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Arg602Thr Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Asn133Ser Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Asn232Ile Single submitter Inborn genetic diseases ⚠
p.Asn422Ser Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Asp140Ala Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Asp140Asn Single submitter Inborn genetic diseases ⚠
p.Asp329Asn Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Asp336Asn Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Asp484Asn Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Asp75Glu Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Cys593fs Single submitter
p.Gln254Arg Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Gln541Glu Single submitter ⚠
p.Gln54Leu Single submitter Inborn genetic diseases ⚠
p.Gln580His Single submitter Inborn genetic diseases ⚠
p.Gln66Glu Single submitter Inborn genetic diseases ⚠
p.Glu151Gln Single submitter Inborn genetic diseases ⚠
p.Glu267Asp Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Glu362Lys Single submitter ⚠
p.Glu366Lys Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Glu480Asp Single submitter Inborn genetic diseases ⚠
p.Glu510Gln Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Glu510Gly Single submitter ⚠
p.Glu53Lys Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Gly126Arg Single submitter Inborn genetic diseases ⚠
p.Gly192Val Single submitter Inborn genetic diseases ⚠
p.Gly296Arg Single submitter Inborn genetic diseases ⚠
p.Gly345Val Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Gly365= Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Gly414Arg Single submitter ⚠
p.Gly436Ser Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Gly468Arg Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Gly69Glu Single submitter ⚠
p.His118Leu Single submitter Inborn genetic diseases ⚠
p.His118Tyr Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.His243Tyr Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.His342Arg Single submitter Inborn genetic diseases ⚠
p.His342Gln Single submitter Inborn genetic diseases ⚠
p.His586Asp Single submitter Inborn genetic diseases ⚠
p.Ile274Asn Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Ile419Val Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Ile475Thr Single submitter Inborn genetic diseases ⚠
p.Leu31Trp Single submitter Inborn genetic diseases ⚠
p.Leu327Val Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Leu347Pro Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Leu430Phe Single submitter Inborn genetic diseases ⚠
p.Leu431Phe Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Leu540Val Single submitter Inborn genetic diseases ⚠
p.Leu592Phe Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Leu76Ser Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Lys604Glu Single submitter Inborn genetic diseases ⚠
p.Met160Ile Single submitter Inborn genetic diseases ⚠
p.Met1Val Single submitter methylmalonic acidemia with homocystinuria, type cblJ
p.Met205Val Single submitter Inborn genetic diseases ⚠
p.Met247Leu Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Met264Ile Single submitter Inborn genetic diseases ⚠
p.Met354Val Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Phe124Leu Single submitter Inborn genetic diseases ⚠
p.Phe222Leu Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Phe224Leu Single submitter Inborn genetic diseases ⚠
p.Phe238Leu Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Phe451Ser Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Phe464Leu Single submitter Inborn genetic diseases ⚠
p.Pro14Leu Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Pro168Leu Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Pro168Thr Single submitter ⚠
p.Pro207Thr Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Pro375Leu Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Pro397His Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Pro453Ser Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Pro526Leu Single submitter ⚠
p.Ser167Tyr Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Ser311Asn Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Ser331Tyr Single submitter Inborn genetic diseases ⚠
p.Ser503Tyr Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Ser525Cys Single submitter Inborn genetic diseases ⚠
p.Ser560Arg Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Ser581Arg Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Ser587Cys Single submitter Inborn genetic diseases ⚠
p.Thr103Ile Single submitter Inborn genetic diseases ⚠
p.Thr170Asn Single submitter Inborn genetic diseases ⚠
p.Thr175Ala Single submitter Inborn genetic diseases ⚠
p.Thr198Ile Single submitter Inborn genetic diseases ⚠
p.Thr332Met Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Thr350Met Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Thr428Ile Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Thr439Arg Single submitter Inborn genetic diseases ⚠
p.Thr572Met Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Trp518Cys Single submitter Inborn genetic diseases ⚠
p.Trp598Cys Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Tyr174Cys Single submitter Inborn genetic diseases ⚠
p.Tyr193Cys Single submitter Inborn genetic diseases ⚠
p.Tyr239Cys Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Tyr340Cys Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Tyr476His Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Val109Met Single submitter Inborn genetic diseases ⚠
p.Val150Met Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Val199Leu Single submitter Inborn genetic diseases ⚠
p.Val213Leu Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Val337Met Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Val3Gly Single submitter Inborn genetic diseases ⚠
p.Val445Met Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Val456Ala Single submitter Inborn genetic diseases ⚠
p.Val516Met Single submitter Inborn genetic diseases ⚠
p.Val56Met Single submitter methylmalonic acidemia with homocystinuria, type cblJ ⚠
p.Val605Ala Single submitter Inborn genetic diseases ⚠
p.Val60Ala Single submitter Inborn genetic diseases ⚠
p.Val70Asp Single submitter Inborn genetic diseases ⚠
c.1118+1G>C No assertion criteria ABCD4-related disorder
p.Gly426Cys No assertion criteria ⚠
p.Met571fs No assertion criteria