Sugi Variant

Sugi Variant/MTRR

MTRR — 999 ClinVar variants

All ClinVar germline MTRR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 228 flagged for review →

51 Pathogenic · 23 Pathogenic/Likely pathogenic · 77 Likely pathogenic · 23 Conflicting · 66 Benign · 21 Benign/Likely benign · 473 Likely benign · 265 Uncertain significance

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

⚑ Evidence disagreements 228

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 8

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

Predictors lean, ClinVar uncertain 179

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 179

Predictors split 41

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

All MTRR variants

Pathogenic 51

  • c.903+469T>C Multiple submitters methylcobalamin deficiency type cblE
  • p.Arg525Ter Multiple submitters neural tube defects, folate-sensitive
  • p.Arg559Ter Multiple submitters methylcobalamin deficiency type cblE
  • p.Glu256Ter Multiple submitters methylcobalamin deficiency type cblE
  • p.Glu560Asnfs Multiple submitters methylcobalamin deficiency type cblE
  • p.Ala166fs Single submitter methylcobalamin deficiency type cblE
  • p.Ala211fs Single submitter methylcobalamin deficiency type cblE
  • p.Arg114fs Single submitter methylcobalamin deficiency type cblE
  • p.Asp288Ter Single submitter methylcobalamin deficiency type cblE
  • p.Asp311fs Single submitter methylcobalamin deficiency type cblE
  • p.Asp419fs Single submitter methylcobalamin deficiency type cblE
  • p.Cys340Ter Single submitter methylcobalamin deficiency type cblE
  • p.Cys37fs Single submitter methylcobalamin deficiency type cblE
  • p.Cys455fs Single submitter methylcobalamin deficiency type cblE
  • p.Gln216fs Single submitter methylcobalamin deficiency type cblE
  • p.Gln402Ter Single submitter methylcobalamin deficiency type cblE
  • p.Gln502Ter Single submitter methylcobalamin deficiency type cblE
  • p.Gln563Ter Single submitter methylcobalamin deficiency type cblE
  • p.Gln77fs Single submitter methylcobalamin deficiency type cblE
  • p.Glu136fs Single submitter methylcobalamin deficiency type cblE
  • p.Glu225fs Single submitter methylcobalamin deficiency type cblE
  • p.Glu75Ter Single submitter methylcobalamin deficiency type cblE
  • p.Gly544fs Single submitter methylcobalamin deficiency type cblE
  • p.Gly548fs Single submitter methylcobalamin deficiency type cblE
  • p.Gly97fs Single submitter methylcobalamin deficiency type cblE
  • p.His88fs Single submitter methylcobalamin deficiency type cblE
  • p.Ile538fs Single submitter methylcobalamin deficiency type cblE
  • p.Ile76fs Single submitter methylcobalamin deficiency type cblE
  • p.Leu240fs Single submitter methylcobalamin deficiency type cblE
  • p.Leu388fs Single submitter methylcobalamin deficiency type cblE
  • p.Leu460Ter Single submitter methylcobalamin deficiency type cblE
  • p.Leu466fs Single submitter methylcobalamin deficiency type cblE
  • p.Leu576fs Single submitter methylcobalamin deficiency type cblE
  • p.Lys350fs Single submitter methylcobalamin deficiency type cblE
  • p.Lys407Ter Single submitter methylcobalamin deficiency type cblE
  • p.Lys447Ter Single submitter methylcobalamin deficiency type cblE
  • p.Met1Val Single submitter methylcobalamin deficiency type cblE
  • p.Phe552fs Single submitter methylcobalamin deficiency type cblE
  • p.Pro272fs Single submitter methylcobalamin deficiency type cblE
  • p.Ser156Ter Single submitter methylcobalamin deficiency type cblE
  • p.Ser301fs Single submitter methylcobalamin deficiency type cblE
  • p.Ser439fs Single submitter methylcobalamin deficiency type cblE
  • p.Thr303fs Single submitter methylcobalamin deficiency type cblE
  • p.Thr481fs Single submitter methylcobalamin deficiency type cblE
  • p.Trp492fs Single submitter methylcobalamin deficiency type cblE
  • p.Tyr307Ter Single submitter methylcobalamin deficiency type cblE
  • p.Tyr44Ter Single submitter methylcobalamin deficiency type cblE
  • p.Val133fs Single submitter methylcobalamin deficiency type cblE
  • p.Val252fs Single submitter methylcobalamin deficiency type cblE
  • p.Leu576del No assertion criteria methylcobalamin deficiency type cblE
  • p.Met542Ter No assertion criteria methylcobalamin deficiency type cblE

Pathogenic/Likely pathogenic 23

  • c.1554_1557+3del Multiple submitters MTRR-related disorder
  • c.1677-1G>A Multiple submitters methylcobalamin deficiency type cblE
  • c.1769+1G>A Multiple submitters neural tube defects, folate-sensitive
  • c.1953-6_1953-2del Multiple submitters neural tube defects, folate-sensitive
  • p.Arg114Ter Multiple submitters methylcobalamin deficiency type cblE
  • p.Arg377Ter Multiple submitters methylcobalamin deficiency type cblE
  • p.Arg386Ter Multiple submitters neural tube defects, folate-sensitive
  • p.Arg418Ter Multiple submitters neural tube defects, folate-sensitive
  • p.Arg594Ter Multiple submitters neural tube defects, folate-sensitive
  • p.Gln255Ter Multiple submitters methylcobalamin deficiency type cblE
  • p.Glu248fs Multiple submitters neural tube defects, folate-sensitive
  • p.Glu375Ter Multiple submitters methylcobalamin deficiency type cblE
  • p.Gly119fs Multiple submitters MTRR-related disorder
  • p.Leu235fs Multiple submitters methylcobalamin deficiency type cblE
  • p.Leu245fs Multiple submitters methylcobalamin deficiency type cblE
  • p.Pro247fs Multiple submitters neural tube defects, folate-sensitive
  • p.Ser395fs Multiple submitters methylcobalamin deficiency type cblE
  • p.Ser454Leu Multiple submitters neural tube defects, folate-sensitive
  • p.Ser458Ter Multiple submitters methylcobalamin deficiency type cblE
  • p.Trp492Ter Multiple submitters neural tube defects, folate-sensitive
  • p.Tyr91fs Multiple submitters methylcobalamin deficiency type cblE
  • p.Val473fs Multiple submitters neural tube defects, folate-sensitive
  • p.Val56Met Multiple submitters methylcobalamin deficiency type cblE

Likely pathogenic 77

  • c.1057+1G>A Multiple submitters neural tube defects, folate-sensitive
  • c.1146+1G>A Multiple submitters methylcobalamin deficiency type cblE
  • c.1371-1G>A Multiple submitters methylcobalamin deficiency type cblE
  • c.1676+2T>C Multiple submitters neural tube defects, folate-sensitive
  • c.401+1G>A Multiple submitters methylcobalamin deficiency type cblE
  • c.402-1G>T Multiple submitters methylcobalamin deficiency type cblE
  • c.-25-1G>A Multiple submitters methylcobalamin deficiency type cblE
  • p.Glu40Ter Multiple submitters methylcobalamin deficiency type cblE
  • p.Gly127fs Multiple submitters neural tube defects, folate-sensitive
  • p.Lys109fs Multiple submitters methylcobalamin deficiency type cblE
  • p.Ser199Ter Multiple submitters methylcobalamin deficiency type cblE
  • c.1057+1G>T Single submitter methylcobalamin deficiency type cblE
  • c.1146+1G>C Single submitter methylcobalamin deficiency type cblE
  • c.1147-1G>A Single submitter methylcobalamin deficiency type cblE
  • c.1147-7_1147-2delinsAAATGCCCACAAG Single submitter methylcobalamin deficiency type cblE
  • c.129+2T>G Single submitter neural tube defects, folate-sensitive
  • c.130-1G>A Single submitter methylcobalamin deficiency type cblE
  • c.130-2A>G Single submitter neural tube defects, folate-sensitive
  • c.1327+1G>A Single submitter methylcobalamin deficiency type cblE
  • c.1370+1G>A Single submitter methylcobalamin deficiency type cblE
  • c.1371-2A>G Single submitter methylcobalamin deficiency type cblE
  • c.1557+1G>C Single submitter methylcobalamin deficiency type cblE
  • c.1558-1G>A Single submitter methylcobalamin deficiency type cblE
  • c.1677-1G>C Single submitter neural tube defects, folate-sensitive
  • c.1677-2A>G Single submitter neural tube defects, folate-sensitive
  • c.1952+1G>A Single submitter neural tube defects, folate-sensitive
  • c.283+1_283+20del Single submitter methylcobalamin deficiency type cblE
  • c.283+1G>A Single submitter methylcobalamin deficiency type cblE
  • c.401+1G>T Single submitter methylcobalamin deficiency type cblE
  • c.401+2_401+7del Single submitter methylcobalamin deficiency type cblE
  • c.402-1G>C Single submitter methylcobalamin deficiency type cblE
  • c.402-2A>G Single submitter methylcobalamin deficiency type cblE
  • c.(780+1_781-1 Single submitter methylcobalamin deficiency type cblE
  • c.781-2A>C Single submitter methylcobalamin deficiency type cblE
  • c.903+1G>A Single submitter methylcobalamin deficiency type cblE
  • c.904-1G>T Single submitter methylcobalamin deficiency type cblE
  • c.904-2A>G Single submitter methylcobalamin deficiency type cblE
  • c.973_1146+462del Single submitter methylcobalamin deficiency type cblE
  • p.Ala120fs Single submitter neural tube defects, folate-sensitive
  • p.Arg3del Single submitter methylcobalamin deficiency type cblE
  • p.Asn504fs Single submitter neural tube defects, folate-sensitive
  • p.Asp198fs Single submitter methylcobalamin deficiency type cblE
  • p.Asp288fs Single submitter methylcobalamin deficiency type cblE
  • p.Asp534fs Single submitter neural tube defects, folate-sensitive
  • p.Gln190Ter Single submitter neural tube defects, folate-sensitive
  • p.Gln325delinsIleLeuHisAsnTyrLeuLeuLeuTer Single submitter methylcobalamin deficiency type cblE
  • p.Gln358fs Single submitter neural tube defects, folate-sensitive
  • p.Gln449Ter Single submitter methylcobalamin deficiency type cblE
  • p.Gln557Ter Single submitter neural tube defects, folate-sensitive
  • p.Gln626Ter Single submitter methylcobalamin deficiency type cblE
  • p.Glu117fs Single submitter methylcobalamin deficiency type cblE
  • p.Glu183Ter Single submitter methylcobalamin deficiency type cblE
  • p.Glu192Ter Single submitter neural tube defects, folate-sensitive
  • p.Glu560fs Single submitter methylcobalamin deficiency type cblE
  • p.Gly200fs Single submitter methylcobalamin deficiency type cblE
  • p.Gly487Arg Single submitter methylcobalamin deficiency type cblE
  • p.His558fs Single submitter neural tube defects, folate-sensitive
  • p.Ile163fs Single submitter methylcobalamin deficiency type cblE
  • p.Leu194fs Single submitter MTRR-related disorder
  • p.Leu250fs Single submitter methylcobalamin deficiency type cblE
  • p.Leu429del Single submitter methylcobalamin deficiency type cblE
  • p.Leu602Ter Single submitter neural tube defects, folate-sensitive
  • p.Leu93fs Single submitter neural tube defects, folate-sensitive
  • p.Lys113fs Single submitter methylcobalamin deficiency type cblE
  • p.Phe85fs Single submitter methylcobalamin deficiency type cblE
  • p.Ser175Ter Single submitter neural tube defects, folate-sensitive
  • p.Ser266fs Single submitter
  • p.Ser279fs Single submitter neural tube defects, folate-sensitive
  • p.Ser306fs Single submitter methylcobalamin deficiency type cblE
  • p.Ser414fs Single submitter neural tube defects, folate-sensitive
  • p.Ser499Ter Single submitter neural tube defects, folate-sensitive
  • p.Ser610Leu Single submitter methylcobalamin deficiency type cblE
  • p.Trp147Ter Single submitter neural tube defects, folate-sensitive
  • p.Trp575Ter Single submitter methylcobalamin deficiency type cblE
  • p.Tyr124Ter Single submitter neural tube defects, folate-sensitive
  • p.Val212fs Single submitter methylcobalamin deficiency type cblE
  • p.Val389fs Single submitter methylcobalamin deficiency type cblE

Conflicting classifications of pathogenicity 23

  • c.283+13C>G Single submitter methylcobalamin deficiency type cblE
  • c.781-2A>T Single submitter methylcobalamin deficiency type cblG
  • p.Ala149Val Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ala362= Single submitter methylcobalamin deficiency type cblE
  • p.Ala9= Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Arg2= Single submitter methylcobalamin deficiency type cblE
  • p.Asp394Glu Single submitter Inborn genetic diseases ⚠
  • p.Cys340= Single submitter methylcobalamin deficiency type cblE
  • p.Cys364del Single submitter methylcobalamin deficiency type cblE
  • p.Gln116Lys Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Gly513Arg Single submitter methylcobalamin deficiency type cblE ⚠
  • p.His661Arg Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Ile290Thr Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Ile345Met Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ile379Val Single submitter Inborn genetic diseases ⚠
  • p.Leu401= Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Phe416= Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Pro82Leu Single submitter neural tube defects, folate-sensitive ⚠
  • p.Ser521= Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Thr126= Single submitter methylcobalamin deficiency type cblE
  • p.Thr355Ala Single submitter Inborn genetic diseases ⚠
  • p.Tyr648= Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Val180= Single submitter Disorders of Intracellular Cobalamin Metabolism

Benign 66

Benign/Likely benign 21

  • c.1057+22C>T Multiple submitters
  • c.1147-14G>A Multiple submitters methylcobalamin deficiency type cblE
  • c.780+20T>C Multiple submitters methylcobalamin deficiency type cblE
  • c.781-14A>G Multiple submitters methylcobalamin deficiency type cblE
  • c.*151A>G Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • c.*167A>G Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • c.*49A>G Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Ala515Val Multiple submitters methylcobalamin deficiency type cblE
  • p.Arg155= Multiple submitters methylcobalamin deficiency type cblE
  • p.Arg70= Multiple submitters methylcobalamin deficiency type cblE
  • p.His595Tyr Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Ile22Met Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Leu442= Multiple submitters methylcobalamin deficiency type cblE
  • p.Lys350Arg Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Ser175Leu Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Thr286Met Multiple submitters methylcobalamin deficiency type cblE
  • p.Thr292= Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Thr48= Multiple submitters methylcobalamin deficiency type cblE
  • p.Thr490Ala Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Val276= Multiple submitters methylcobalamin deficiency type cblE
  • p.Val607Ile Multiple submitters Disorders of Intracellular Cobalamin Metabolism

Likely benign 473

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

  • c.1057+8C>G Multiple submitters methylcobalamin deficiency type cblE
  • c.1058-160A>G Multiple submitters
  • c.1058-17C>T Multiple submitters methylcobalamin deficiency type cblE
  • c.1058-86C>A Multiple submitters
  • c.1147-16G>A Multiple submitters methylcobalamin deficiency type cblE
  • c.1328-13T>A Multiple submitters methylcobalamin deficiency type cblE
  • c.1370+18C>T Multiple submitters methylcobalamin deficiency type cblE
  • c.1370+69A>C Multiple submitters
  • c.1557+47T>G Multiple submitters
  • c.1676+57C>T Multiple submitters
  • c.1676+86T>C Multiple submitters
  • c.1769+14C>T Multiple submitters methylcobalamin deficiency type cblE
  • c.1952+14G>A Multiple submitters methylcobalamin deficiency type cblE
  • c.1952+67G>C Multiple submitters
  • c.1953-124T>G Multiple submitters
  • c.401+10G>A Multiple submitters methylcobalamin deficiency type cblE
  • c.402-19G>A Multiple submitters methylcobalamin deficiency type cblE
  • c.904-19dup Multiple submitters methylcobalamin deficiency type cblE
  • c.904-4C>G Multiple submitters methylcobalamin deficiency type cblE
  • p.Ala144= Multiple submitters methylcobalamin deficiency type cblE
  • p.Ala173= Multiple submitters methylcobalamin deficiency type cblE
  • p.Ala396= Multiple submitters methylcobalamin deficiency type cblE
  • p.Ala684= Multiple submitters methylcobalamin deficiency type cblE
  • p.Gln25= Multiple submitters methylcobalamin deficiency type cblE
  • p.Glu248= Multiple submitters methylcobalamin deficiency type cblE
  • p.Ile18= Multiple submitters methylcobalamin deficiency type cblE
  • p.Leu245= Multiple submitters methylcobalamin deficiency type cblE
  • p.Pro247Ser Multiple submitters Inborn genetic diseases
  • p.Ser41= Multiple submitters methylcobalamin deficiency type cblE
  • p.Thr547= Multiple submitters methylcobalamin deficiency type cblE
  • p.Thr62= Multiple submitters methylcobalamin deficiency type cblE
  • c.1057+12G>A Single submitter methylcobalamin deficiency type cblE
  • c.1057+131A>G Single submitter
  • c.1057+17T>C Single submitter methylcobalamin deficiency type cblE
  • c.1057+7G>T Single submitter methylcobalamin deficiency type cblE
  • c.1057+8C>T Single submitter methylcobalamin deficiency type cblE
  • c.1057+9_1057+16del Single submitter methylcobalamin deficiency type cblE
  • c.1057+9C>T Single submitter methylcobalamin deficiency type cblE
  • c.1058-16G>A Single submitter methylcobalamin deficiency type cblE
  • c.1058-19C>T Single submitter methylcobalamin deficiency type cblE
  • c.1058-204T>C Single submitter
  • c.1058-5A>C Single submitter methylcobalamin deficiency type cblE
  • c.1058-8del Single submitter methylcobalamin deficiency type cblE
  • c.1058-9C>T Single submitter methylcobalamin deficiency type cblE
  • c.1146+10dup Single submitter methylcobalamin deficiency type cblE
  • c.1146+12T>C Single submitter methylcobalamin deficiency type cblE
  • c.1146+13G>T Single submitter methylcobalamin deficiency type cblE
  • c.1146+150G>A Single submitter
  • c.1146+19T>G Single submitter methylcobalamin deficiency type cblE
  • c.1147-11C>G Single submitter methylcobalamin deficiency type cblE
  • c.1147-14G>T Single submitter methylcobalamin deficiency type cblE
  • c.1147-15G>T Single submitter methylcobalamin deficiency type cblE
  • c.1147-17C>T Single submitter methylcobalamin deficiency type cblE
  • c.1147-6T>C Single submitter methylcobalamin deficiency type cblE
  • c.1147-8T>C Single submitter methylcobalamin deficiency type cblE
  • c.129+10G>A Single submitter methylcobalamin deficiency type cblE
  • c.129+10G>C Single submitter methylcobalamin deficiency type cblE
  • c.129+11T>C Single submitter methylcobalamin deficiency type cblE
  • c.129+12T>C Single submitter methylcobalamin deficiency type cblE
  • c.129+13A>T Single submitter methylcobalamin deficiency type cblE
  • c.129+14C>A Single submitter methylcobalamin deficiency type cblE
  • c.129+14C>G Single submitter methylcobalamin deficiency type cblE
  • c.129+152C>G Single submitter
  • c.129+15A>G Single submitter methylcobalamin deficiency type cblE
  • c.129+16G>A Single submitter
  • c.129+20A>C Single submitter methylcobalamin deficiency type cblE
  • c.129+20A>T Single submitter methylcobalamin deficiency type cblE
  • c.129+7G>A Single submitter methylcobalamin deficiency type cblE
  • c.129+9C>T Single submitter methylcobalamin deficiency type cblE
  • c.130-12C>G Single submitter methylcobalamin deficiency type cblE
  • c.130-14T>C Single submitter methylcobalamin deficiency type cblE
  • c.130-17A>T Single submitter methylcobalamin deficiency type cblE
  • c.130-18G>A Single submitter methylcobalamin deficiency type cblE
  • c.130-20T>C Single submitter methylcobalamin deficiency type cblE
  • c.130-20T>G Single submitter methylcobalamin deficiency type cblE
  • c.130-272C>T Single submitter
  • c.130-4G>A Single submitter methylcobalamin deficiency type cblE
  • c.1327+10C>G Single submitter methylcobalamin deficiency type cblE
  • c.1327+10C>T Single submitter methylcobalamin deficiency type cblE
  • c.1327+11G>A Single submitter methylcobalamin deficiency type cblE
  • c.1327+14T>G Single submitter methylcobalamin deficiency type cblE
  • c.1327+158A>G Single submitter
  • c.1327+19A>G Single submitter methylcobalamin deficiency type cblE
  • c.1327+20A>G Single submitter methylcobalamin deficiency type cblE
  • c.1327+8G>A Single submitter methylcobalamin deficiency type cblE
  • c.1328-12A>G Single submitter methylcobalamin deficiency type cblE
  • c.1328-13T>C Single submitter methylcobalamin deficiency type cblE
  • c.1328-4C>G Single submitter methylcobalamin deficiency type cblE
  • c.1328-4C>T Single submitter methylcobalamin deficiency type cblE
  • c.1328-6T>G Single submitter methylcobalamin deficiency type cblE
  • c.1328-7_1328-5del Single submitter methylcobalamin deficiency type cblE
  • c.1328-8T>C Single submitter methylcobalamin deficiency type cblE
  • c.1370+12del Single submitter methylcobalamin deficiency type cblE
  • c.1370+12T>C Single submitter methylcobalamin deficiency type cblE
  • c.1370+17A>G Single submitter methylcobalamin deficiency type cblE
  • c.1370+20T>A Single submitter methylcobalamin deficiency type cblE
  • c.1370+2TAC[3] Single submitter methylcobalamin deficiency type cblE
  • c.1370+9A>G Single submitter methylcobalamin deficiency type cblE
  • c.1370+9del Single submitter methylcobalamin deficiency type cblE
  • c.1371-10A>G Single submitter methylcobalamin deficiency type cblE
  • c.1371-11dup Single submitter methylcobalamin deficiency type cblE
  • c.1371-12_1371-11del Single submitter methylcobalamin deficiency type cblE
  • c.1371-17T>C Single submitter methylcobalamin deficiency type cblE
  • c.1371-18G>A Single submitter methylcobalamin deficiency type cblE
  • c.1371-20T>C Single submitter methylcobalamin deficiency type cblE
  • c.1371-245A>G Single submitter
  • c.1371-4G>T Single submitter methylcobalamin deficiency type cblE
  • c.1371-8C>G Single submitter methylcobalamin deficiency type cblE
  • c.1557+10T>C Single submitter methylcobalamin deficiency type cblE
  • c.1557+16C>T Single submitter methylcobalamin deficiency type cblE
  • c.1557+18T>C Single submitter methylcobalamin deficiency type cblE
  • c.1558-12G>A Single submitter methylcobalamin deficiency type cblE
  • c.1558-12G>C Single submitter methylcobalamin deficiency type cblE
  • c.1558-13T>C Single submitter methylcobalamin deficiency type cblE
  • c.1558-14A>G Single submitter methylcobalamin deficiency type cblE
  • c.1558-15del Single submitter methylcobalamin deficiency type cblE
  • c.1558-17T>C Single submitter methylcobalamin deficiency type cblE
  • c.1558-8T>C Single submitter methylcobalamin deficiency type cblE
  • c.1676+10T>C Single submitter methylcobalamin deficiency type cblE
  • c.1676+137G>A Single submitter
  • c.1676+7T>G Single submitter methylcobalamin deficiency type cblE
  • c.1676+8C>T Single submitter methylcobalamin deficiency type cblE
  • c.1677-11T>C Single submitter methylcobalamin deficiency type cblE
  • c.1677-20C>T Single submitter methylcobalamin deficiency type cblE
  • c.1677-4T>C Single submitter methylcobalamin deficiency type cblE
  • c.1677-5C>T Single submitter methylcobalamin deficiency type cblE
  • c.1677-6A>G Single submitter methylcobalamin deficiency type cblE
  • c.1677-7dup Single submitter methylcobalamin deficiency type cblE
  • c.1677-8C>T Single submitter methylcobalamin deficiency type cblE
  • c.1677-9T>C Single submitter methylcobalamin deficiency type cblE
  • c.1769+10A>G Single submitter methylcobalamin deficiency type cblE
  • c.1769+10A>T Single submitter methylcobalamin deficiency type cblE
  • c.1769+11A>G Single submitter methylcobalamin deficiency type cblE
  • c.1769+15C>G Single submitter methylcobalamin deficiency type cblE
  • c.1769+8A>G Single submitter methylcobalamin deficiency type cblE
  • c.1769+9C>G Single submitter methylcobalamin deficiency type cblE
  • c.1770-12A>G Single submitter methylcobalamin deficiency type cblE
  • c.1770-14A>G Single submitter methylcobalamin deficiency type cblE
  • c.1770-42G>C Single submitter
  • c.1770-7A>G Single submitter methylcobalamin deficiency type cblE
  • c.1952+10_1952+12del Single submitter methylcobalamin deficiency type cblE
  • c.1952+10T>A Single submitter methylcobalamin deficiency type cblE
  • c.1952+10T>C Single submitter methylcobalamin deficiency type cblE
  • c.1952+11A>T Single submitter methylcobalamin deficiency type cblE
  • c.1952+12_1952+16dup Single submitter methylcobalamin deficiency type cblE
  • c.1952+13C>T Single submitter methylcobalamin deficiency type cblE
  • c.1952+176G>A Single submitter
  • c.1952+17C>A Single submitter methylcobalamin deficiency type cblE
  • c.1952+20A>G Single submitter methylcobalamin deficiency type cblE
  • c.1952+7C>T Single submitter methylcobalamin deficiency type cblE
  • c.1953-14_1953-12del Single submitter methylcobalamin deficiency type cblE
  • c.1953-14A>G Single submitter methylcobalamin deficiency type cblE
  • c.1953-15T>C Single submitter methylcobalamin deficiency type cblE
  • c.1953-16T>C Single submitter methylcobalamin deficiency type cblE
  • c.1953-18T>C Single submitter methylcobalamin deficiency type cblE
  • c.1953-19T>C Single submitter methylcobalamin deficiency type cblE
  • c.1953-20C>T Single submitter methylcobalamin deficiency type cblE
  • c.1953-4C>G Single submitter methylcobalamin deficiency type cblE
  • c.1953-4C>T Single submitter methylcobalamin deficiency type cblE
  • c.1953-9C>A Single submitter methylcobalamin deficiency type cblE
  • c.283+13C>T Single submitter methylcobalamin deficiency type cblE
  • c.283+15C>G Single submitter methylcobalamin deficiency type cblE
  • c.283+9C>T Single submitter methylcobalamin deficiency type cblE
  • c.284-17del Single submitter methylcobalamin deficiency type cblE
  • c.284-17G>A Single submitter methylcobalamin deficiency type cblE
  • c.284-18T>C Single submitter methylcobalamin deficiency type cblE
  • c.284-34T>C Single submitter
  • c.284-5T>G Single submitter methylcobalamin deficiency type cblE
  • c.284-6C>T Single submitter methylcobalamin deficiency type cblE
  • c.401+12_401+13del Single submitter methylcobalamin deficiency type cblE
  • c.401+14T>A Single submitter methylcobalamin deficiency type cblE
  • c.401+17C>G Single submitter methylcobalamin deficiency type cblE
  • c.401+17C>T Single submitter methylcobalamin deficiency type cblE
  • c.401+19G>T Single submitter methylcobalamin deficiency type cblE
  • c.401+8C>T Single submitter methylcobalamin deficiency type cblE
  • c.401+9A>G Single submitter methylcobalamin deficiency type cblE
  • c.402-18T>C Single submitter methylcobalamin deficiency type cblE
  • c.402-20C>T Single submitter methylcobalamin deficiency type cblE
  • c.402-6del Single submitter methylcobalamin deficiency type cblE
  • c.402-6G>T Single submitter methylcobalamin deficiency type cblE
  • c.780+17T>C Single submitter methylcobalamin deficiency type cblE
  • c.780+17T>G Single submitter methylcobalamin deficiency type cblE
  • c.780+18dup Single submitter methylcobalamin deficiency type cblE
  • c.780+19A>G Single submitter methylcobalamin deficiency type cblE
  • c.780+19del Single submitter methylcobalamin deficiency type cblE
  • c.780+8A>G Single submitter methylcobalamin deficiency type cblE
  • c.781-291G>T Single submitter
  • c.781-4C>G Single submitter
  • c.781-4C>T Single submitter methylcobalamin deficiency type cblE
  • c.781-5T>G Single submitter methylcobalamin deficiency type cblE
  • c.781-6T>C Single submitter methylcobalamin deficiency type cblE
  • c.781-8T>C Single submitter methylcobalamin deficiency type cblE
  • c.903+11A>G Single submitter methylcobalamin deficiency type cblE
  • c.903+15T>G Single submitter methylcobalamin deficiency type cblE
  • c.903+17_903+20del Single submitter methylcobalamin deficiency type cblE
  • c.903+19T>A Single submitter methylcobalamin deficiency type cblE
  • c.903+265G>A Single submitter
  • c.903+7T>C Single submitter methylcobalamin deficiency type cblE
  • c.903+9C>T Single submitter methylcobalamin deficiency type cblE
  • c.904-10del Single submitter methylcobalamin deficiency type cblE
  • c.904-10T>C Single submitter methylcobalamin deficiency type cblE
  • c.904-12G>T Single submitter methylcobalamin deficiency type cblE
  • c.904-16T>C Single submitter methylcobalamin deficiency type cblE
  • c.904-18A>G Single submitter methylcobalamin deficiency type cblE
  • c.904-19C>T Single submitter methylcobalamin deficiency type cblE
  • c.904-20_904-19insTTC Single submitter methylcobalamin deficiency type cblE
  • c.904-3dup Single submitter methylcobalamin deficiency type cblE
  • c.904-4C>A Single submitter methylcobalamin deficiency type cblE
  • p.Ala120= Single submitter methylcobalamin deficiency type cblE
  • p.Ala166= Single submitter methylcobalamin deficiency type cblE
  • p.Ala17= Single submitter methylcobalamin deficiency type cblE
  • p.Ala19= Single submitter methylcobalamin deficiency type cblE
  • p.Ala289= Single submitter methylcobalamin deficiency type cblE
  • p.Ala312= Single submitter methylcobalamin deficiency type cblE
  • p.Ala33= Single submitter methylcobalamin deficiency type cblE
  • p.Ala347= Single submitter methylcobalamin deficiency type cblE
  • p.Ala383= Single submitter methylcobalamin deficiency type cblE
  • p.Ala387= Single submitter methylcobalamin deficiency type cblE
  • p.Ala410= Single submitter methylcobalamin deficiency type cblE
  • p.Ala411= Single submitter methylcobalamin deficiency type cblE
  • p.Ala420= Single submitter methylcobalamin deficiency type cblE
  • p.Ala422= Single submitter methylcobalamin deficiency type cblE
  • p.Ala430= Single submitter methylcobalamin deficiency type cblE
  • p.Ala456= Single submitter methylcobalamin deficiency type cblE
  • p.Ala494= Single submitter methylcobalamin deficiency type cblE
  • p.Ala515= Single submitter methylcobalamin deficiency type cblE
  • p.Ala550= Single submitter methylcobalamin deficiency type cblE
  • p.Ala613= Single submitter methylcobalamin deficiency type cblE
  • p.Ala622= Single submitter methylcobalamin deficiency type cblE
  • p.Ala637Val Single submitter Inborn genetic diseases
  • p.Ala653= Single submitter methylcobalamin deficiency type cblE
  • p.Ala657= Single submitter methylcobalamin deficiency type cblE
  • p.Ala663= Single submitter methylcobalamin deficiency type cblE
  • p.Ala679= Single submitter methylcobalamin deficiency type cblE
  • p.Ala87= Single submitter methylcobalamin deficiency type cblE
  • p.Arg114= Single submitter methylcobalamin deficiency type cblE
  • p.Arg158= Single submitter methylcobalamin deficiency type cblE
  • p.Arg377= Single submitter methylcobalamin deficiency type cblE
  • p.Arg525= Single submitter methylcobalamin deficiency type cblE
  • p.Arg581= Single submitter methylcobalamin deficiency type cblE
  • p.Arg638= Single submitter methylcobalamin deficiency type cblE
  • p.Arg691= Single submitter methylcobalamin deficiency type cblE
  • p.Asn106= Single submitter methylcobalamin deficiency type cblE
  • p.Asn210= Single submitter methylcobalamin deficiency type cblE
  • p.Asn215= Single submitter methylcobalamin deficiency type cblE
  • p.Asn218= Single submitter methylcobalamin deficiency type cblE
  • p.Asn302= Single submitter methylcobalamin deficiency type cblE
  • p.Asn319= Single submitter methylcobalamin deficiency type cblE
  • p.Asn628= Single submitter methylcobalamin deficiency type cblE
  • p.Asn644= Single submitter methylcobalamin deficiency type cblE
  • p.Asn78= Single submitter methylcobalamin deficiency type cblE
  • p.Asp125= Single submitter methylcobalamin deficiency type cblE
  • p.Asp131= Single submitter methylcobalamin deficiency type cblE
  • p.Asp178= Single submitter methylcobalamin deficiency type cblE
  • p.Asp197= Single submitter methylcobalamin deficiency type cblE
  • p.Asp198= Single submitter methylcobalamin deficiency type cblE
  • p.Asp34= Single submitter methylcobalamin deficiency type cblE
  • p.Asp394= Single submitter methylcobalamin deficiency type cblE
  • p.Asp419= Single submitter methylcobalamin deficiency type cblE
  • p.Asp511= Single submitter methylcobalamin deficiency type cblE
  • p.Asp534= Single submitter methylcobalamin deficiency type cblE
  • p.Asp568= Single submitter methylcobalamin deficiency type cblE
  • p.Asp652= Single submitter methylcobalamin deficiency type cblE
  • p.Asp662= Single submitter methylcobalamin deficiency type cblE
  • p.Cys132= Single submitter methylcobalamin deficiency type cblE
  • p.Gln116= Single submitter methylcobalamin deficiency type cblE
  • p.Gln251= Single submitter methylcobalamin deficiency type cblE
  • p.Gln275= Single submitter methylcobalamin deficiency type cblE
  • p.Gln283= Single submitter methylcobalamin deficiency type cblE
  • p.Gln308= Single submitter methylcobalamin deficiency type cblE
  • p.Gln358= Single submitter methylcobalamin deficiency type cblE
  • p.Gln435= Single submitter methylcobalamin deficiency type cblE
  • p.Gln502= Single submitter methylcobalamin deficiency type cblE
  • p.Gln565= Single submitter methylcobalamin deficiency type cblE
  • p.Gln626= Single submitter methylcobalamin deficiency type cblE
  • p.Gln630= Single submitter methylcobalamin deficiency type cblE
  • p.Gln634= Single submitter methylcobalamin deficiency type cblE
  • p.Gln666= Single submitter methylcobalamin deficiency type cblE
  • p.Gln79= Single submitter methylcobalamin deficiency type cblE
  • p.Glu140= Single submitter methylcobalamin deficiency type cblE
  • p.Glu161= Single submitter methylcobalamin deficiency type cblE
  • p.Glu375= Single submitter methylcobalamin deficiency type cblE
  • p.Glu403= Single submitter methylcobalamin deficiency type cblE
  • p.Glu560= Single submitter methylcobalamin deficiency type cblE
  • p.Glu618= Single submitter methylcobalamin deficiency type cblE
  • p.Glu619= Single submitter methylcobalamin deficiency type cblE
  • p.Glu643= Single submitter methylcobalamin deficiency type cblE
  • p.Gly108= Single submitter methylcobalamin deficiency type cblE
  • p.Gly127= Single submitter methylcobalamin deficiency type cblE
  • p.Gly13= Single submitter methylcobalamin deficiency type cblE
  • p.Gly159= Single submitter methylcobalamin deficiency type cblE
  • p.Gly165= Single submitter methylcobalamin deficiency type cblE
  • p.Gly310= Single submitter methylcobalamin deficiency type cblE
  • p.Gly363= Single submitter methylcobalamin deficiency type cblE
  • p.Gly409= Single submitter methylcobalamin deficiency type cblE
  • p.Gly491= Single submitter methylcobalamin deficiency type cblE
  • p.Gly544= Single submitter methylcobalamin deficiency type cblE
  • p.Gly548= Single submitter methylcobalamin deficiency type cblE
  • p.Gly572= Single submitter methylcobalamin deficiency type cblE
  • p.Gly61= Single submitter methylcobalamin deficiency type cblE

Uncertain significance 265

  • c.1676+3A>G Multiple submitters Inborn genetic diseases
  • c.1677-2dup Multiple submitters methylcobalamin deficiency type cblE
  • p.Ala166Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala19Thr Multiple submitters methylcobalamin deficiency type cblE ⚠
  • p.Ala456Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala9Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg121Trp Multiple submitters methylcobalamin deficiency type cblE ⚠
  • p.Arg418Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg485Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg525Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg691Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg691His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg70Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg70His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg90Trp Multiple submitters Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Asn106Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn628Ser Multiple submitters methylcobalamin deficiency type cblE ⚠
  • p.Asp197His Multiple submitters methylcobalamin deficiency type cblE ⚠
  • p.Cys340Gly Multiple submitters methylcobalamin deficiency type cblE ⚠
  • p.Gln325Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln557Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln565Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu688Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly491Asp Multiple submitters Inborn genetic diseases
  • p.His128Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His339Arg Multiple submitters methylcobalamin deficiency type cblE ⚠
  • p.Ile163Val Multiple submitters methylcobalamin deficiency type cblE ⚠
  • p.Ile18Val Multiple submitters methylcobalamin deficiency type cblE ⚠
  • p.Ile522Val Multiple submitters methylcobalamin deficiency type cblE ⚠
  • p.Leu228Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu245Phe Multiple submitters methylcobalamin deficiency type cblE ⚠
  • p.Leu374Phe Multiple submitters methylcobalamin deficiency type cblE ⚠
  • p.Leu576Trp Multiple submitters methylcobalamin deficiency type cblE ⚠
  • p.Leu593Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Lys181Arg Multiple submitters methylcobalamin deficiency type cblE ⚠
  • p.Lys291Gln Multiple submitters methylcobalamin deficiency type cblE ⚠
  • p.Lys352Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Phe416Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro168Leu Multiple submitters Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Pro318Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro533Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser164Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser231Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser239Phe Multiple submitters methylcobalamin deficiency type cblE ⚠
  • p.Ser669Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr102Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Thr303Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr60Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr80Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Val169Met Multiple submitters Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Val180Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val341Ile Multiple submitters Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Val674Ala Multiple submitters Inborn genetic diseases ⚠
  • c.1057+6A>C Single submitter
  • c.1146+3A>G Single submitter methylcobalamin deficiency type cblE
  • c.1558-6T>C Single submitter methylcobalamin deficiency type cblE
  • c.1769+6G>A Single submitter methylcobalamin deficiency type cblE
  • c.1952+2T>C Single submitter neural tube defects, folate-sensitive
  • c.1952+4A>G Single submitter
  • c.780+5G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1058A>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*163C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*21G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*222A>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*48T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*490A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*569A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*686G>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*693G>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*709T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*717C>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*853G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*884T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*935T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*935T>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*977T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Ala166Thr Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ala289Thr Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ala312Gly Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ala411Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala422Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala430Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala498Thr Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ala498Val Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ala507Val Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ala515Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala613Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala637Glu Single submitter methylcobalamin deficiency type cblE
  • p.Ala637Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala653Glu Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ala653Val Single submitter Inborn genetic diseases ⚠
  • p.Ala657Val Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Arg121Gln Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Arg176Thr Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Arg230His Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Arg418Gln Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Arg590Gly Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Arg611Thr Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Asn215His Single submitter Inborn genetic diseases ⚠
  • p.Asn218Asp Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Asn218His Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Asn218Lys Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Asn287Ile Single submitter Inborn genetic diseases ⚠
  • p.Asn287Ser Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Asn319Lys Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Asn319Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn471Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn528Ser Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Asn528Thr Single submitter Inborn genetic diseases ⚠
  • p.Asn644Lys Single submitter Inborn genetic diseases ⚠
  • p.Asp178Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp197Asn Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Asp203Tyr Single submitter ⚠
  • p.Asp288Gly Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Asp34Val Single submitter Inborn genetic diseases ⚠
  • p.Asp390Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp42Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp42Gly Single submitter ⚠
  • p.Asp652fs Single submitter methylcobalamin deficiency type cblE
  • p.Asp659Glu Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Asp659Tyr Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Asp67Ala Single submitter Inborn genetic diseases ⚠
  • p.Cys105Gly Single submitter methylcobalamin deficiency type cblE
  • p.Cys455Ser Single submitter Inborn genetic diseases ⚠
  • p.Gln255Pro Single submitter Inborn genetic diseases ⚠
  • p.Gln358Arg Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Gln666His Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Gln77Arg Single submitter Inborn genetic diseases ⚠
  • p.Glu100Gly Single submitter methylcobalamin deficiency type cblE
  • p.Glu117Gly Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Glu162Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu162Gly Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Glu334Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu40Asp Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Glu482Asp Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Glu643Gln Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Gly107Glu Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Gly353Glu Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Gly491Val Single submitter Inborn genetic diseases ⚠
  • p.Gly548Ser Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Gly579Val Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Gly616Arg Single submitter methylcobalamin deficiency type cblE ⚠
  • p.His122Arg Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.His339Asp Single submitter methylcobalamin deficiency type cblE ⚠
  • p.His359Arg Single submitter Inborn genetic diseases ⚠
  • p.His359Tyr Single submitter methylcobalamin deficiency type cblE ⚠
  • p.His36Tyr Single submitter methylcobalamin deficiency type cblE ⚠
  • p.His467Gln Single submitter methylcobalamin deficiency type cblE ⚠
  • p.His506Arg Single submitter Inborn genetic diseases ⚠
  • p.His509Arg Single submitter methylcobalamin deficiency type cblE ⚠
  • p.His531Tyr Single submitter methylcobalamin deficiency type cblE ⚠
  • p.His595Arg Single submitter methylcobalamin deficiency type cblE ⚠
  • p.His599Arg Single submitter methylcobalamin deficiency type cblE ⚠
  • p.His599Leu Single submitter Inborn genetic diseases ⚠
  • p.His88Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile278Val Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ile300Val Single submitter Inborn genetic diseases ⚠
  • p.Ile379Ser Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ile472Thr Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ile505Met Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ile520Val Single submitter Inborn genetic diseases ⚠
  • p.Ile540Ser Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ile541Val Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Leu135Phe Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Leu150Arg Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Leu167Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu167Val Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Leu235Phe Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Leu245Val Single submitter Inborn genetic diseases ⚠
  • p.Leu258Pro Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Leu284Phe Single submitter methylcobalamin deficiency type cblE
  • p.Leu328Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu333Phe Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Leu356_Pro357delinsTrpTyr Single submitter methylcobalamin deficiency type cblE
  • p.Leu35Phe Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Leu438Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu476Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu501Arg Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Leu532Phe Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Leu597Ile Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Leu693Phe Single submitter ⚠
  • p.Leu96Val Single submitter Inborn genetic diseases ⚠
  • p.Lys352del Single submitter methylcobalamin deficiency type cblE
  • p.Lys382Glu Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Lys43Glu Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Lys486Arg Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Lys561Arg Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Lys591Glu Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Lys598Arg Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Lys606Asn Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Lys74Glu Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Met574Leu Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Phe475Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe552Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe609Leu Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Phe85Val Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Pro141Leu Single submitter Inborn genetic diseases
  • p.Pro148Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro243Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro277Thr Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Pro318Leu Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Pro357Leu Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Pro380Thr Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Pro518Ser Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Pro536Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro539Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro65Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser156Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser326Gly Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ser406Gly Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ser477Cys Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Ser512Arg Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Thr229= Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Thr229Ser Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Thr285Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr392Ile Single submitter methylcobalamin deficiency type cblE
  • p.Thr480Ala Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Thr60Met Single submitter Inborn genetic diseases ⚠
  • p.Tyr124Cys Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Tyr124His Single submitter
  • p.Tyr648fs Single submitter neural tube defects, folate-sensitive
  • p.Val133Leu Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Val212Ala Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Val265Gly Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Val265Ile Single submitter ⚠
  • p.Val265Leu Single submitter Inborn genetic diseases ⚠
  • p.Val28Ala Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Val315Met Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Val389Met Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Val473Ala Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Val500Gly Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Val543Glu Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Val55Ile Single submitter Inborn genetic diseases ⚠
  • p.Val615Ala Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Val672Ile Single submitter methylcobalamin deficiency type cblE ⚠
  • p.Val73Phe Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • c.1057+4A>G No assertion criteria methylcobalamin deficiency type cblE
  • c.1058-6G>A No assertion criteria methylcobalamin deficiency type cblE
  • c.284-9G>A No assertion criteria methylcobalamin deficiency type cblE
  • c.401+6G>A No assertion criteria methylcobalamin deficiency type cblE
  • c.904-6C>G No assertion criteria methylcobalamin deficiency type cblE
  • p.Ala573Thr No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Ala684Ser No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Asn644Ser No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Asp203Asn No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Glu482Val No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Gly108Glu No assertion criteria MTRR-related disorder ⚠
  • p.Gly487= No assertion criteria methylcobalamin deficiency type cblE
  • p.Gly600Glu No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Ile639Ser No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Leu641Phe No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Lys381Glu No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Phe555Ile No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Pro450Ser No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Pro503Arg No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Ser175Pro No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Ser199Leu No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Ser301Leu No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Ser439Thr No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Thr303Ala No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Thr349Ile No assertion criteria methylcobalamin deficiency type cblE
  • p.Thr603Ser No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Tyr413Cys No assertion criteria methylcobalamin deficiency type cblE
  • p.Val315Leu No assertion criteria methylcobalamin deficiency type cblE ⚠
  • p.Val497Ala No assertion criteria methylcobalamin deficiency type cblE ⚠