MTHFR — 949 ClinVar variants

All ClinVar germline MTHFR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 252 flagged for review →

66 Pathogenic · 40 Pathogenic/Likely pathogenic · 84 Likely pathogenic · 43 Conflicting · 32 Benign · 12 Benign/Likely benign · 425 Likely benign · 247 Uncertain significance

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

⚑ Evidence disagreements 252

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 11

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

MTHFR p.Arg183Gln Pathogenic/Likely pathogenic Multiple submitters
thrombophilia due to thrombin defect
MTHFR p.Arg345Cys Pathogenic/Likely pathogenic Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg46Gln Likely pathogenic Multiple submitters
neural tube defects, folate-sensitive
MTHFR p.Arg52Gln Pathogenic/Likely pathogenic Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg535Trp Likely pathogenic Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ile153Met Pathogenic/Likely pathogenic Multiple submitters
neural tube defects, folate-sensitive
MTHFR p.Ala113Ser Likely pathogenic Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Lys372Glu Likely pathogenic Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Pro202Thr Likely pathogenic Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ile225Leu Pathogenic No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ser603Cys Pathogenic No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency

Predictors agree, ClinVar conflicts 21

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

MTHFR p.Arg132His Conflicting Single submitter
MTHFR-related disorder
MTHFR p.Arg157Trp Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg335His Conflicting Single submitter
thrombophilia due to thrombin defect
MTHFR p.Arg377Cys Conflicting Single submitter
neural tube defects, folate-sensitive
MTHFR p.Arg388Cys Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg388His Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg445Gln Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg46Trp Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg473Gln Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg519Leu Conflicting Single submitter
neural tube defects, folate-sensitive
MTHFR p.Arg535Gln Conflicting Single submitter
neural tube defects, folate-sensitive
MTHFR p.Asn542Thr Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Glu470Gln Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.His127Tyr Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.His263Pro Conflicting Single submitter
schizophrenia
MTHFR p.Ile225Val Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Pro572Leu Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ser10Thr Conflicting Single submitter
Inborn genetic diseases
MTHFR p.Trp421Cys Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Val536Phe Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Val574Ile Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency

Predictors lean, ClinVar uncertain 149

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

MTHFR p.Ala302Gly Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ala650Val Uncertain significance Multiple submitters
Inborn genetic diseases
MTHFR p.Arg238Cys Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg266Gln Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg535Pro Uncertain significance Multiple submitters
Inborn genetic diseases
MTHFR p.Arg606His Uncertain significance Multiple submitters
Inborn genetic diseases
MTHFR p.Asn12Lys Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Asn290Asp Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Asn446Ser Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Asn649Asp Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Asp629Gly Uncertain significance Multiple submitters
Inborn genetic diseases
MTHFR p.Gly36Val Uncertain significance Multiple submitters
Inborn genetic diseases
MTHFR p.Gly387Asp Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.His213Arg Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.His354Tyr Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ile192Thr Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ile91Val Uncertain significance Multiple submitters
Inborn genetic diseases
MTHFR p.Lys356Arg Uncertain significance Multiple submitters
Inborn genetic diseases
MTHFR p.Met128Val Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Pro343Ser Uncertain significance Multiple submitters
Inborn genetic diseases
MTHFR p.Pro346Arg Uncertain significance Multiple submitters
Inborn genetic diseases
MTHFR p.Pro355Leu Uncertain significance Multiple submitters
schizophrenia
MTHFR p.Ala175Glu Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ala242Gly Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ala292Val Uncertain significance Single submitter
neural tube defects, folate-sensitive
MTHFR p.Ala311Asp Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ala353Thr Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Ala461Val Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Ala524Gly Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg132Cys Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg134Cys Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg134His Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg238His Uncertain significance Single submitter
MTHFR p.Arg335Pro Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg335Ser Uncertain significance Single submitter
MTHFR p.Arg358Gln Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg363His Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg377Ser Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg388Leu Uncertain significance Single submitter
MTHFR p.Arg519His Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg51Gln Uncertain significance Single submitter
MTHFR p.Arg535Gly Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg567Gln Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg594Trp Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg645Lys Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg651Lys Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg6Lys Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Asn620Lys Uncertain significance Single submitter
MTHFR p.Asn620Ser Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Asn649Lys Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Asp191Asn Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Asp245Asn Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Asp289Glu Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Asp28Asn Uncertain significance Single submitter
MTHFR p.Asp38His Uncertain significance Single submitter
neural tube defects, folate-sensitive
MTHFR p.Asp614Asn Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Gln260Arg Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Glu123Asp Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Glu16Asp Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Glu16Gly Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Glu275Lys Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Glu300Lys Uncertain significance Single submitter
MTHFR p.Glu360Lys Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Glu383Asp Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Glu43Gly Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Glu469Asp Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Glu4Gln Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Glu4Lys Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Glu54Asp Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Gly121Val Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Gly298Ser Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Gly505Ala Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Gly562Asp Uncertain significance Single submitter
MTHFR p.His539Arg Uncertain significance Single submitter
MTHFR p.Ile112Val Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ile226Val Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ile252Asn Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ile252Ser Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ile256Asn Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ile488Val Uncertain significance Single submitter
MTHFR p.Leu318Val Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Leu333Gln Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Leu425Val Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Leu437His Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Leu513Ile Uncertain significance Single submitter
thrombophilia due to thrombin defect
MTHFR p.Leu598Pro Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Lys510Glu Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Lys510Thr Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Lys544Asn Uncertain significance Single submitter
MTHFR p.Met246Thr Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Met338Ile Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Met338Leu Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Met581Ile Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Met581Thr Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Met83Thr Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Phe236Leu Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Phe236Ser Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Phe239Leu Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Phe564Leu Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Pro254Ser Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Pro258Arg Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Pro343Leu Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Pro492Leu Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Pro556Leu Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Pro604Leu Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Pro67Ser Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ser114Gly Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Ser20Gly Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ser21Asn Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ser30Leu Uncertain significance Single submitter
MTHFR p.Ser373Asn Uncertain significance Single submitter
MTHFR p.Ser392Phe Uncertain significance Single submitter
MTHFR p.Ser410Gly Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ser412Cys Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Ser430Gly Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Ser465Arg Uncertain significance Single submitter
MTHFR p.Thr129Ala Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Thr129Ile Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Thr34Ile Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Thr426Ile Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Thr481Asn Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Thr647Ile Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Thr69Ile Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Trp389Cys Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Tyr197Asp Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Tyr262Cys Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Tyr599Cys Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Tyr611Phe Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Val194Leu Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Val194Met Uncertain significance Single submitter
MTHFR p.Val253Ile Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Val283Met Uncertain significance Single submitter
MTHFR p.Val2Met Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Val541Phe Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Asp159Glu Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Gln527Pro Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Glu470Asp Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Glu602Ala Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Gly17Asp Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Gly505Val Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.His181Tyr Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ile259Thr Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ile497Val Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Leu37Pro Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Lys414Arg Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Phe207Ser Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ser465Asn Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Thr227Lys Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Trp165Cys Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency

Predictors split 71

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

MTHFR p.Ala524Glu Uncertain significance Multiple submitters
Inborn genetic diseases
MTHFR p.Ala587Gly Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg345His Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg357His Pathogenic/Likely pathogenic Multiple submitters
neural tube defects, folate-sensitive
MTHFR p.Arg445Trp Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg51Trp Uncertain significance Multiple submitters
schizophrenia
MTHFR p.Arg68Gln Uncertain significance Multiple submitters
thrombophilia due to thrombin defect
MTHFR p.Arg68Gly Pathogenic/Likely pathogenic Multiple submitters
schizophrenia
MTHFR p.Cys631Tyr Uncertain significance Multiple submitters
MTHFR p.Gly87Asp Uncertain significance Multiple submitters
Inborn genetic diseases
MTHFR p.Met338Thr Pathogenic/Likely pathogenic Multiple submitters
neural tube defects, folate-sensitive
MTHFR p.Pro316Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MTHFR p.Ser272Phe Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ser493Thr Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Val303Met Uncertain significance Multiple submitters
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ala116Thr Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ala220Val Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg295Cys Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Arg325Cys Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg335Cys Conflicting Single submitter
neural tube defects, folate-sensitive
MTHFR p.Arg345Leu Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg473Trp Likely benign Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg476Cys Uncertain significance Single submitter
MTHFR p.Arg51Gly Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Arg606Cys Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg82Gln Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Arg82Trp Conflicting Single submitter
MTHFR-related disorder
MTHFR p.Asp100Tyr Uncertain significance Single submitter
MTHFR p.Asp223Asn Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Asp361His Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Asp361Tyr Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Cys120Arg Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Glu285Gly Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Glu285Lys Conflicting Single submitter
Inborn genetic diseases
MTHFR p.Glu470Val Conflicting Single submitter
thrombophilia due to thrombin defect
MTHFR p.Gly102Arg Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Gly261Val Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Gly313Ala Uncertain significance Single submitter
vascular dementia
MTHFR p.Gly337Glu Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Gly87Val Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Ile226Thr Uncertain significance Single submitter
MTHFR p.Ile294Thr Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Leu408Arg Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Leu89Val Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Met49Val Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Phe257Val Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Phe80Leu Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Pro202Ser Uncertain significance Single submitter
MTHFR p.Pro286Thr Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Pro343Arg Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Ser373Cys Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ser440Leu Uncertain significance Single submitter
MTHFR p.Thr139Met Conflicting Single submitter
neural tube defects, folate-sensitive
MTHFR p.Trp421Leu Uncertain significance Single submitter
MTHFR p.Trp59Cys Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Tyr189Cys Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Tyr506Cys Conflicting Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Val218Leu Uncertain significance Single submitter
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Val635Ala Uncertain significance Single submitter
Inborn genetic diseases
MTHFR p.Val93Met Uncertain significance Single submitter
MTHFR p.Ala175Ser Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ala396Pro Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Asp291Asn Uncertain significance No assertion criteria
Mendelian syndromes with cleft lip/palate
MTHFR p.Gly102Val Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Gly171Asp Uncertain significance No assertion criteria
MTHFR-related disorder
MTHFR p.Gly337Arg Likely benign No assertion criteria
intellectual disability
MTHFR p.Leu178Val Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Pro572Ser Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Ser440Trp Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Trp59Ser Pathogenic No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR p.Tyr616Cys Uncertain significance No assertion criteria
homocystinuria due to methylene tetrahydrofolate reductase deficiency

All MTHFR variants

Pathogenic 66

c.1167-2del Multiple submitters neural tube defects, folate-sensitive
c.1347+1G>A Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.237-1G>T Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.237-2A>G Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.781-1G>A Multiple submitters neural tube defects, folate-sensitive
p.Arg183Ter Multiple submitters MTHFR-related disorder
p.Arg358Ter Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg52Ter Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu423fs Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu470Ter Multiple submitters MTHFR-related disorder
p.Leu590fs Multiple submitters neural tube defects, folate-sensitive
p.Lys510= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Trp381Ter Multiple submitters neural tube defects, folate-sensitive
p.Trp421Ter Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.781-2A>G Single submitter neural tube defects, folate-sensitive
p.Ala293fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala302_Val303insTer Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg238fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg46fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg6fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp382fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gln260Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gln267Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gln571fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu279Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu433Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu514fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu553Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly149Val Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly501fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Leu418_Leu425del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Leu460fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Leu618fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Lys151Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Lys288fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Lys372fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Met1Lys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Met1Thr Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Phe435fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Phe64fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Pro355fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ser184fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ser264fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ser312fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ser518fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ser579fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Trp165Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Trp349Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Trp389Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Trp561Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Tyr321Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1530+2T>C No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.780+1G>T No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Cys130Arg No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly196Asp No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly221fs No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly255Val No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ile225Leu No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Leu628Pro No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Lys531del No assertion criteria Spasticity
p.Lys531fs No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Pro348Ser No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ser603Cys No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Trp59Ser No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Tyr599_Glu600delinsTer No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Val575Gly No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency

Pathogenic/Likely pathogenic 40

c.1166+5G>C Multiple submitters neural tube defects, folate-sensitive
c.1632+2T>G Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1752+1G>T Multiple submitters MTHFR-related disorder
c.1753-18G>A Multiple submitters MTHFR-related disorder
c.475+1G>T Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.780+1G>A Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala113Thr Multiple submitters neural tube defects, folate-sensitive
p.Ala175Thr Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala195Val Multiple submitters neural tube defects, folate-sensitive
p.Arg157Gln Multiple submitters thrombophilia due to thrombin defect
p.Arg183Gln Multiple submitters thrombophilia due to thrombin defect ⚠
p.Arg345Cys Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg357Cys Multiple submitters neural tube defects, folate-sensitive
p.Arg357His Multiple submitters neural tube defects, folate-sensitive ⚠
p.Arg377His Multiple submitters neural tube defects, folate-sensitive
p.Arg52Gln Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg567Ter Multiple submitters neural tube defects, folate-sensitive
p.Arg68Gly Multiple submitters schizophrenia ⚠
p.Arg68Ter Multiple submitters neural tube defects, folate-sensitive
p.Asn290fs Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp92fs Multiple submitters neural tube defects, folate-sensitive
p.Gln571Ter Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly158= Multiple submitters neural tube defects, folate-sensitive
p.Ile153Met Multiple submitters neural tube defects, folate-sensitive ⚠
p.Ile287fs Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ile497fs Multiple submitters neural tube defects, folate-sensitive
p.Leu323Pro Multiple submitters thrombophilia due to thrombin defect
p.Lys584Ter Multiple submitters neural tube defects, folate-sensitive
p.Met338Thr Multiple submitters neural tube defects, folate-sensitive ⚠
p.Ser410_Lys414del Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ser440= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ser78Ter Multiple submitters neural tube defects, folate-sensitive
p.Ter657Ser Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Thr227Met Multiple submitters neural tube defects, folate-sensitive
p.Trp339Gly Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Trp421Ser Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Trp500Ter Multiple submitters neural tube defects, folate-sensitive
p.Trp583Ter Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Trp59Ter Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Tyr374Ter Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency

Likely pathogenic 84

c.1166+1G>T Multiple submitters neural tube defects, folate-sensitive
c.1348-1G>C Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1530+1G>A Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1530+1G>T Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.476-2A>C Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.781-6G>A Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg46Gln Multiple submitters neural tube defects, folate-sensitive ⚠
p.Arg535Trp Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Asn324Ser Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp38fs Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Leu439Pro Multiple submitters neural tube defects, folate-sensitive
c.1032-12_1038del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1032-1G>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1347+2T>C Single submitter neural tube defects, folate-sensitive
c.1531-1G>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1633-1G>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1749_1752+7del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1750_1752+1del Single submitter neural tube defects, folate-sensitive
c.236+1G>A Single submitter schizophrenia
c.237-2A>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.475+1G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.476-1G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.476-2A>T Single submitter neural tube defects, folate-sensitive
c.585_586+2del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.586+1G>A Single submitter neural tube defects, folate-sensitive
p.Ala113Ser Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg473_Val474insTer Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg51Pro Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg79Ser Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn537fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn547fs Single submitter neural tube defects, folate-sensitive
p.Asp159Gly Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp210fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp28fs Single submitter neural tube defects, folate-sensitive
p.Cys243Gly Single submitter thrombophilia due to thrombin defect
p.Gln147Pro Single submitter neural tube defects, folate-sensitive
p.Gln278Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gln307Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gln477Ter Single submitter schizophrenia
p.Gln509Ter Single submitter neural tube defects, folate-sensitive
p.Gln527Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gln555Ter Single submitter neural tube defects, folate-sensitive
p.Gln610fs Single submitter neural tube defects, folate-sensitive
p.Glu331Ter Single submitter neural tube defects, folate-sensitive
p.Glu416Ter Single submitter neural tube defects, folate-sensitive
p.Glu424Ter Single submitter
p.Glu514Ter Single submitter MTHFR-related disorder
p.Glu586Lys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly170fs Single submitter neural tube defects, folate-sensitive
p.Gly247fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly337= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly596Ter Single submitter neural tube defects, folate-sensitive
p.Gly7fs Single submitter neural tube defects, folate-sensitive
p.His201fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.His201Pro Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ile226del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ile256fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Leu178fs Single submitter neural tube defects, folate-sensitive
p.Leu417fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Leu513Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Leu598Arg Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Leu89_Pro101dup Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Lys372Glu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Lys531_Tyr532insTer Single submitter
p.Met154fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Met338fs Single submitter neural tube defects, folate-sensitive
p.Phe384fs Single submitter neural tube defects, folate-sensitive
p.Phe435Ser Single submitter neural tube defects, folate-sensitive
p.Pro202Thr Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Pro67fs Single submitter neural tube defects, folate-sensitive
p.Pro67Leu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ser219fs Single submitter neural tube defects, folate-sensitive
p.Ser427fs Single submitter neural tube defects, folate-sensitive
p.Ser430fs Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ter657Arg Single submitter neural tube defects, folate-sensitive
p.Thr235fs Single submitter
p.Thr517fs Single submitter neural tube defects, folate-sensitive
p.Trp455Ter Single submitter
p.Trp595Ter Single submitter neural tube defects, folate-sensitive
p.Tyr197Ter Single submitter neural tube defects, folate-sensitive
p.Tyr297Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Tyr438Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Tyr506Asp Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Tyr532Ter Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency

Conflicting classifications of pathogenicity 43

c.1032-6A>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1531-12T>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-14dup Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.236+3A>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala116Thr Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ala587= Single submitter Inborn genetic diseases
p.Arg132His Single submitter MTHFR-related disorder ⚠
p.Arg157Trp Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg325Cys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg335Cys Single submitter neural tube defects, folate-sensitive ⚠
p.Arg335His Single submitter thrombophilia due to thrombin defect ⚠
p.Arg377Cys Single submitter neural tube defects, folate-sensitive ⚠
p.Arg388Cys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg388His Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg445Gln Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg46Trp Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg473Gln Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg519Leu Single submitter neural tube defects, folate-sensitive ⚠
p.Arg535Gln Single submitter neural tube defects, folate-sensitive ⚠
p.Arg82Trp Single submitter MTHFR-related disorder ⚠
p.Asn542Thr Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Asp223Asn Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Glu285Lys Single submitter Inborn genetic diseases ⚠
p.Glu470Gln Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Glu470Leu Single submitter neural tube defects, folate-sensitive
p.Glu470Val Single submitter thrombophilia due to thrombin defect ⚠
p.Gly505= Single submitter Inborn genetic diseases
p.His127Tyr Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.His263Pro Single submitter schizophrenia ⚠
p.Ile225Val Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Leu37= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Met1Ile Single submitter neural tube defects, folate-sensitive
p.Met1Val Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Phe236= Single submitter Inborn genetic diseases
p.Pro572Leu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ser10Thr Single submitter Inborn genetic diseases ⚠
p.Thr139Met Single submitter neural tube defects, folate-sensitive ⚠
p.Thr464= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Trp421Cys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Trp59Cys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Tyr506Cys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Val536Phe Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Val574Ile Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠

Benign 32

c.1166+31C>T Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1531-80G>A Multiple submitters
c.1632+35G>A Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1632+94G>C Multiple submitters
c.1752+146T>C Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1752+45G>A Multiple submitters
c.1752+79G>A Multiple submitters
c.1753-48C>G Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.476-304A>G Multiple submitters
c.476-79G>A Multiple submitters
c.-13-91C>T Multiple submitters
c.*372A>C Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Phe435= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Pro39= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ser352= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1031+117G>A Single submitter
c.1632+14del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1632+225G>A Single submitter
c.1633-18del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1633-18dup Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1633-5dup Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1752+16del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.236+160T>C Single submitter
c.236+170dup Single submitter
c.476-76G>A Single submitter
c.586+149A>G Single submitter
c.586+152T>C Single submitter
c.587-1332C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.780+179C>T Single submitter
p.Gly422Arg Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Thr647= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.-13-380C>A No assertion criteria MTHFR-related disorder

Benign/Likely benign 12

c.1167-76G>T Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1347+20G>A Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala242= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg519Cys Multiple submitters schizophrenia
p.Asn290= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn542= Multiple submitters Inborn genetic diseases
p.Asn644Lys Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp92= Multiple submitters Inborn genetic diseases
p.Pro492= Multiple submitters Inborn genetic diseases
p.Thr244= Multiple submitters Inborn genetic diseases
p.Thr653= Multiple submitters Inborn genetic diseases
p.Thr653Met Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency

Likely benign 425

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

c.1530+8A>G Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1531-7C>T Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1752+16G>C Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-26G>A Multiple submitters
c.476-13A>G Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.476-305C>T Multiple submitters
c.476-86G>C Multiple submitters
c.587-7T>C Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.587-9T>C Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala155= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala220= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg325= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn456= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp361= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp382= Multiple submitters Inborn genetic diseases
p.Asp457= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Cys130= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Cys306= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gln485= Multiple submitters Inborn genetic diseases
p.Glu458= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly171= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly261= Multiple submitters Inborn genetic diseases
p.His141= Multiple submitters Inborn genetic diseases
p.His354= Multiple submitters Inborn genetic diseases
p.His613= Multiple submitters Inborn genetic diseases
p.Ile252= Multiple submitters Inborn genetic diseases
p.Ile299= Multiple submitters Inborn genetic diseases
p.Leu271= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Leu301= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Leu318= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Leu471= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Lys151= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Lys273= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Lys334= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Phe626= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Pro385= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Pro604= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Pro66= Multiple submitters Inborn genetic diseases
p.Ser30= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ser427= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ser493= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ser494= Multiple submitters Inborn genetic diseases
p.Thr107= Multiple submitters Inborn genetic diseases
p.Thr139= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Thr227= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Thr378= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Thr573= Multiple submitters Inborn genetic diseases
p.Tyr174= Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Val574= Multiple submitters Inborn genetic diseases
c.1031+12G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1031+15C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1031+20G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1031+8C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1032-11T>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1032-12A>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1032-14C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1032-16C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1032-17del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1032-20C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1032-4C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1032-7C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1166+12C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1166+18T>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1166+7G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1166+8C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1166+9C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1167-12C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1167-14C>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1167-14C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1167-18T>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1167-5G>T Single submitter
c.1167-7C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1347+14_1347+80del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1347+16G>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1347+31C>A Single submitter
c.1347+9T>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1348-11G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1348-12C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1348-15C>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1348-15C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1348-17C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1348-4C>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1348-5C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1530+14G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1530+17C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1530+18G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1530+19G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1530+284C>T Single submitter
c.1530+49G>T Single submitter
c.1530+7T>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1530+8A>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1531-115C>A Single submitter
c.1531-11C>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1531-16C>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1531-19G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1531-5C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1531-8T>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1531-9C>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1632+10G>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1632+11C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1632+13C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1632+15A>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1632+32C>T Single submitter
c.1632+35G>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1632+9G>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1633-10A>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1633-15_1633-14delinsTT Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1633-18C>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1633-20C>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1633-29_1633-17del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1633-5C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1633-7C>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1633-7C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1633-8C>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1752+11C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1752+12G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1752+12G>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1752+29G>A Single submitter
c.1753-10GT[6] Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-12_1753-9dup Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-13T>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-14G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-15G>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-16G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-18G>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-19C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-20G>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-25_1753-18del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-25TG[2] Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-33TGTGTGCG[3] Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-34_1753-19dup Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-37_1753-20dup Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-47TG[4] Single submitter
c.1753-47TG[7] Single submitter
c.1753-4G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-4G>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-8G>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.236+10T>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.236+12C>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.236+13A>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.236+15G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.236+17T>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.236+20A>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.236+7T>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.236+8C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.236+9A>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.236+9A>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.237-10C>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.237-10C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.237-15A>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.237-208C>T Single submitter
c.237-20C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.237-4A>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.237-8C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.237-9C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.475+10C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.475+17C>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.475+17C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.475+8G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.476-6C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.476-8C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.586+11G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.586+15C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.586+18C>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.586+20T>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.587-11C>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.587-11C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.587-12C>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.587-12C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.587-14A>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.587-15C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.587-18T>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.587-19C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.587-4G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.587-4G>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.587-8A>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.780+11C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.780+13G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.780+16G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.780+18G>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.780+8G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.781-10dup Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.781-12T>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.781-13A>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.781-13A>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.781-14C>T Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.781-16C>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.781-20G>A Single submitter
c.781-5G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.-13-260G>A Single submitter
c.-13-311C>T Single submitter
c.-13-335G>A Single submitter
c.-13-353T>G Single submitter
c.-13-375G>A Single submitter
c.-13-380C>T Single submitter
c.-13-46G>A Single submitter
c.*118C>G Single submitter
c.*41C>T Single submitter
p.Ala113= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala116= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala19= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala222= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala222Val Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala233= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala302= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala353= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala396= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala461= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala462= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala511= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala522= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala558= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala589= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala650= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala98= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg134= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg157= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg238= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg295= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg363= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg370= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg41= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg445= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg46= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg473Trp Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg476= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg519= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg52= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg535= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg567= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg6= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Arg651= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn118= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn12= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn152= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn173= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn3= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn324= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn386= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn444= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn446His Single submitter Inborn genetic diseases
p.Asn475= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn483= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn489= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn537= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn547= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn550= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn615= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn649= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asn75= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp177= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp234Asn Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp245= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp28= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp282= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp342= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp495= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp57= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp585= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp625= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp629= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp638= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp81= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Cys14= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Cys452= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gln610= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gln634= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gln648= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu106= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu136= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu16= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu169= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu208= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu300= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu341= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu399= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu40= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu415= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu416= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu514= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu54= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu568= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu593= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu600= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu600Asp Single submitter Inborn genetic diseases
p.Glu601= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu602= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly102= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly149= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly205= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly255= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly422= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly490= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly499= Single submitter Inborn genetic diseases
p.Gly501= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly56= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly562= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly566= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly596= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly87= Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency

Uncertain significance 247

c.780+3G>A Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.-13-304G>A Multiple submitters
p.Ala302Gly Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ala524Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala587Gly Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ala650Val Multiple submitters Inborn genetic diseases ⚠
p.Arg238Cys Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg266Gln Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg345His Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg445Trp Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg51Trp Multiple submitters schizophrenia ⚠
p.Arg535Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg606His Multiple submitters Inborn genetic diseases ⚠
p.Arg68Gln Multiple submitters thrombophilia due to thrombin defect ⚠
p.Asn12Lys Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Asn290Asp Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Asn446Ser Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Asn649Asp Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Asp629Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys631Tyr Multiple submitters ⚠
p.Gln267Lys Multiple submitters Inborn genetic diseases
p.Glu326Lys Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly36Val Multiple submitters Inborn genetic diseases ⚠
p.Gly387Asp Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Gly87Asp Multiple submitters Inborn genetic diseases ⚠
p.His213Arg Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.His354Tyr Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ile192Thr Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ile91Val Multiple submitters Inborn genetic diseases ⚠
p.Lys215del Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Lys356Arg Multiple submitters Inborn genetic diseases ⚠
p.Met128Val Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Pro316Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro343Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro346Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro355Leu Multiple submitters schizophrenia ⚠
p.Ser272Phe Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ser493Thr Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Val303Met Multiple submitters homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
c.1530+6G>A Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1632+6C>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1633-9T>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-22_1753-3del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-34_1753-19del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-3T>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.475+4T>C Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.476-9A>G Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.-13-28_-13-12del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.-13-28_-13-27del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.*7G>A Single submitter
p.Ala175Glu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ala220Val Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ala242Gly Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ala292Val Single submitter neural tube defects, folate-sensitive ⚠
p.Ala311Asp Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ala353Thr Single submitter Inborn genetic diseases ⚠
p.Ala461Val Single submitter Inborn genetic diseases ⚠
p.Ala524Gly Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg132Cys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg134Cys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg134His Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg238His Single submitter ⚠
p.Arg295Cys Single submitter Inborn genetic diseases ⚠
p.Arg335Pro Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg335Ser Single submitter ⚠
p.Arg345Leu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg358Gln Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg363His Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg377Ser Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg388Leu Single submitter ⚠
p.Arg46_Glu47del Single submitter
p.Arg476Cys Single submitter ⚠
p.Arg519His Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg51Gln Single submitter ⚠
p.Arg51Gly Single submitter Inborn genetic diseases ⚠
p.Arg535Gly Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg567Gln Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg594Trp Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg606Cys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg645Lys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg651Lys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg6Lys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Arg82Gln Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Asn620Lys Single submitter ⚠
p.Asn620Ser Single submitter Inborn genetic diseases ⚠
p.Asn649Lys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Asp100Tyr Single submitter ⚠
p.Asp191Asn Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Asp245Asn Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Asp289Glu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Asp28Asn Single submitter ⚠
p.Asp361His Single submitter Inborn genetic diseases ⚠
p.Asp361Tyr Single submitter Inborn genetic diseases ⚠
p.Asp38His Single submitter neural tube defects, folate-sensitive ⚠
p.Asp402del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp457del Single submitter
p.Asp614Asn Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Cys120Arg Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Cys250= Single submitter
p.Gln260Arg Single submitter Inborn genetic diseases ⚠
p.Glu123Asp Single submitter Inborn genetic diseases ⚠
p.Glu137del Single submitter
p.Glu16Asp Single submitter Inborn genetic diseases ⚠
p.Glu16Gly Single submitter Inborn genetic diseases ⚠
p.Glu203Lys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu275Lys Single submitter Inborn genetic diseases ⚠
p.Glu285Gly Single submitter Inborn genetic diseases ⚠
p.Glu300Lys Single submitter ⚠
p.Glu360Lys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Glu383Asp Single submitter Inborn genetic diseases ⚠
p.Glu43Gly Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Glu469Asp Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Glu4Gln Single submitter Inborn genetic diseases ⚠
p.Glu4Lys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Glu54Asp Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Glu602del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu602Ser Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Gly102Arg Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Gly121Val Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Gly261Val Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Gly298Ser Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Gly313Ala Single submitter vascular dementia ⚠
p.Gly337Glu Single submitter Inborn genetic diseases ⚠
p.Gly505Ala Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Gly562Asp Single submitter ⚠
p.Gly87Val Single submitter Inborn genetic diseases ⚠
p.His141Asp Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.His539Arg Single submitter ⚠
p.Ile112Val Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ile226Thr Single submitter ⚠
p.Ile226Val Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ile252Asn Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ile252Ser Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ile256Asn Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ile294Thr Single submitter Inborn genetic diseases ⚠
p.Ile488Val Single submitter ⚠
p.Ile608Asn Single submitter Inborn genetic diseases
p.Leu318Val Single submitter Inborn genetic diseases ⚠
p.Leu333Gln Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Leu408Arg Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Leu418_Leu425dup Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Leu425Val Single submitter Inborn genetic diseases ⚠
p.Leu437His Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Leu513Ile Single submitter thrombophilia due to thrombin defect ⚠
p.Leu598Pro Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Leu89Val Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Lys217del Single submitter
p.Lys510Glu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Lys510Thr Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Lys544Asn Single submitter ⚠
p.Met246Thr Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Met338Ile Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Met338Leu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Met49Val Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Met581Ile Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Met581Thr Single submitter Inborn genetic diseases ⚠
p.Met83Thr Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Phe236Leu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Phe236Ser Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Phe239Leu Single submitter Inborn genetic diseases ⚠
p.Phe257Val Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Phe564Leu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Phe80Leu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Pro202Ser Single submitter ⚠
p.Pro254Ser Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Pro258Arg Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Pro286Thr Single submitter Inborn genetic diseases ⚠
p.Pro343Arg Single submitter Inborn genetic diseases ⚠
p.Pro343Leu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Pro492Leu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Pro556Leu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Pro604Leu Single submitter Inborn genetic diseases ⚠
p.Pro67Ser Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ser114Gly Single submitter Inborn genetic diseases ⚠
p.Ser20Gly Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ser21Asn Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ser30Leu Single submitter ⚠
p.Ser373Asn Single submitter ⚠
p.Ser373Cys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ser392Phe Single submitter ⚠
p.Ser410Gly Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ser412Cys Single submitter Inborn genetic diseases ⚠
p.Ser430Gly Single submitter Inborn genetic diseases ⚠
p.Ser440Leu Single submitter ⚠
p.Ser465Arg Single submitter ⚠
p.Thr129Ala Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Thr129Ile Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Thr34Ile Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Thr426Ile Single submitter Inborn genetic diseases ⚠
p.Thr481Asn Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Thr549del Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Thr647Ile Single submitter Inborn genetic diseases ⚠
p.Thr69Ile Single submitter Inborn genetic diseases ⚠
p.Trp389Cys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Trp421Leu Single submitter ⚠
p.Tyr189Cys Single submitter Inborn genetic diseases ⚠
p.Tyr197Asp Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Tyr262Cys Single submitter Inborn genetic diseases ⚠
p.Tyr599Cys Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Tyr611Phe Single submitter Inborn genetic diseases ⚠
p.Tyr616del Single submitter
p.Val176_Asp177delinsProGlyArgLeuHis Single submitter
p.Val194Leu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Val194Met Single submitter ⚠
p.Val218Leu Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Val253Ile Single submitter Inborn genetic diseases ⚠
p.Val283Met Single submitter ⚠
p.Val2Met Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Val436Ile Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Val474= Single submitter
p.Val541Ala Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Val541Phe Single submitter homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Val635Ala Single submitter Inborn genetic diseases ⚠
p.Val93Met Single submitter ⚠
c.1167-4C>T No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.1753-15G>A No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.237-7C>G No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
c.781-5G>T No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Ala175Ser No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ala396Pro No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Asp159Glu No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Asp210= No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Asp291Asn No assertion criteria Mendelian syndromes with cleft lip/palate ⚠
p.Gln527Pro No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Glu359= No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Glu470Asp No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Glu602Ala No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Gly102Val No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Gly171Asp No assertion criteria MTHFR-related disorder ⚠
p.Gly17Asp No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Gly505Val No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.His181Tyr No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ile259Thr No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ile497Val No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Leu178Val No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Leu37Pro No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Lys414Arg No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Lys48del No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Phe207Ser No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Phe580fs No assertion criteria prostate cancer
p.Pro572Ser No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ser440Trp No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Ser465Asn No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Thr227Lys No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Thr69= No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency
p.Trp165Cys No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠
p.Tyr616Cys No assertion criteria homocystinuria due to methylene tetrahydrofolate reductase deficiency ⚠