Sugi Variant

Sugi Variant/TCN2

TCN2 — 743 ClinVar variants

All ClinVar germline TCN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 227 flagged for review →

46 Pathogenic · 8 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 26 Conflicting · 47 Benign · 17 Benign/Likely benign · 335 Likely benign · 250 Uncertain significance

Full TCN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 227

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 13

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

Predictors lean, ClinVar uncertain 180

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 180

Predictors split 34

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

All TCN2 variants

Pathogenic 46

  • c.1106+1G>A Multiple submitters transcobalamin II deficiency
  • p.Gln291Ter Multiple submitters transcobalamin II deficiency
  • p.Leu376fs Multiple submitters transcobalamin II deficiency
  • p.Ser256fs Multiple submitters transcobalamin II deficiency
  • p.Thr333fs Multiple submitters transcobalamin II deficiency
  • c.427+2T>G Single submitter TCN2-related disorder
  • p.Ala111fs Single submitter transcobalamin II deficiency
  • p.Arg120fs Single submitter transcobalamin II deficiency
  • p.Arg140fs Single submitter transcobalamin II deficiency
  • p.Arg208fs Single submitter transcobalamin II deficiency
  • p.Asn212fs Single submitter transcobalamin II deficiency
  • p.Cys165fs Single submitter transcobalamin II deficiency
  • p.Cys309fs Single submitter transcobalamin II deficiency
  • p.Gln156Ter Single submitter transcobalamin II deficiency
  • p.Gln217fs Single submitter transcobalamin II deficiency
  • p.Gln279fs Single submitter transcobalamin II deficiency
  • p.Gln335Ter Single submitter transcobalamin II deficiency
  • p.Gln345Ter Single submitter transcobalamin II deficiency
  • p.Gln373Ter Single submitter transcobalamin II deficiency
  • p.Gln82Ter Single submitter transcobalamin II deficiency
  • p.Glu364Ter Single submitter transcobalamin II deficiency
  • p.Glu91Ter Single submitter transcobalamin II deficiency
  • p.Gly79fs Single submitter transcobalamin II deficiency
  • p.Gly86fs Single submitter transcobalamin II deficiency
  • p.His29fs Single submitter transcobalamin II deficiency
  • p.Ile142fs Single submitter transcobalamin II deficiency
  • p.Leu127fs Single submitter transcobalamin II deficiency
  • p.Leu274fs Single submitter transcobalamin II deficiency
  • p.Leu39fs Single submitter transcobalamin II deficiency
  • p.Leu39Ter Single submitter transcobalamin II deficiency
  • p.Leu45fs Single submitter transcobalamin II deficiency
  • p.Lys99fs Single submitter transcobalamin II deficiency
  • p.Met1Ile Single submitter transcobalamin II deficiency
  • p.Phe134fs Single submitter transcobalamin II deficiency
  • p.Phe203fs Single submitter transcobalamin II deficiency
  • p.Pro40fs Single submitter transcobalamin II deficiency
  • p.Thr322fs Single submitter transcobalamin II deficiency
  • p.Tyr108Ter Single submitter transcobalamin II deficiency
  • p.Tyr155fs Single submitter transcobalamin II deficiency
  • p.Tyr370Ter Single submitter transcobalamin II deficiency
  • p.Tyr380Ter Single submitter transcobalamin II deficiency
  • p.Val295fs Single submitter transcobalamin II deficiency
  • p.Val295Ter Single submitter transcobalamin II deficiency
  • c.581-176A>T No assertion criteria transcobalamin II deficiency
  • c.940+303_1106+746delinsCTGG No assertion criteria transcobalamin II deficiency
  • p.Leu58fs No assertion criteria transcobalamin II deficiency

Pathogenic/Likely pathogenic 8

  • c.428-2_428-1del Multiple submitters transcobalamin II deficiency
  • c.428-2A>G Multiple submitters transcobalamin II deficiency
  • p.Arg227Ter Multiple submitters transcobalamin II deficiency
  • p.Asn115fs Multiple submitters transcobalamin II deficiency
  • p.Gln188Ter Multiple submitters Inborn genetic diseases
  • p.Gly367Ter Multiple submitters transcobalamin II deficiency
  • p.Phe118fs Multiple submitters transcobalamin II deficiency
  • p.Val13fs Multiple submitters transcobalamin II deficiency

Likely pathogenic 14

Conflicting classifications of pathogenicity 26

Benign 47

Benign/Likely benign 17

  • c.427+17C>T Multiple submitters transcobalamin II deficiency
  • c.427+18G>A Multiple submitters transcobalamin II deficiency
  • c.65-17C>T Multiple submitters transcobalamin II deficiency
  • c.941-13C>T Multiple submitters transcobalamin II deficiency
  • c.*29C>A Multiple submitters transcobalamin II deficiency
  • p.Arg120= Multiple submitters Inborn genetic diseases
  • p.Arg208His Multiple submitters transcobalamin II deficiency
  • p.Arg259Pro Multiple submitters transcobalamin II deficiency
  • p.Arg399Gln Multiple submitters transcobalamin II deficiency
  • p.Cys83= Multiple submitters transcobalamin II deficiency
  • p.Gly94Ser Multiple submitters transcobalamin II deficiency
  • p.His167= Multiple submitters transcobalamin II deficiency
  • p.Ile23Val Multiple submitters transcobalamin II deficiency
  • p.Leu30= Multiple submitters transcobalamin II deficiency
  • p.Leu30Arg Multiple submitters transcobalamin II deficiency
  • p.Phe89Leu Multiple submitters transcobalamin II deficiency
  • p.Pro341= Multiple submitters transcobalamin II deficiency

Likely benign 335

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

  • c.1106+13_1106+19del Multiple submitters transcobalamin II deficiency
  • c.1106+17C>T Multiple submitters transcobalamin II deficiency
  • c.1106+307C>T Multiple submitters
  • c.1107-10C>T Multiple submitters transcobalamin II deficiency
  • c.1223-185G>T Multiple submitters
  • c.257+12CT[2] Multiple submitters transcobalamin II deficiency
  • c.257+13T>A Multiple submitters transcobalamin II deficiency
  • c.257+16C>G Multiple submitters transcobalamin II deficiency
  • c.427+12C>G Multiple submitters transcobalamin II deficiency
  • c.427+7A>G Multiple submitters transcobalamin II deficiency
  • c.428-7C>T Multiple submitters transcobalamin II deficiency
  • c.580+17G>A Multiple submitters transcobalamin II deficiency
  • c.581-7C>A Multiple submitters transcobalamin II deficiency
  • c.753+18G>A Multiple submitters transcobalamin II deficiency
  • c.753+19del Multiple submitters transcobalamin II deficiency
  • c.940+11T>C Multiple submitters transcobalamin II deficiency
  • c.940+125G>A Multiple submitters
  • c.*209G>C Multiple submitters transcobalamin II deficiency
  • c.*300T>G Multiple submitters transcobalamin II deficiency
  • p.Ala163= Multiple submitters transcobalamin II deficiency
  • p.Ala222= Multiple submitters transcobalamin II deficiency
  • p.Ala351= Multiple submitters transcobalamin II deficiency
  • p.Ala362= Multiple submitters transcobalamin II deficiency
  • p.Arg170Gln Multiple submitters transcobalamin II deficiency
  • p.Asp70= Multiple submitters transcobalamin II deficiency
  • p.Gln130= Multiple submitters transcobalamin II deficiency
  • p.Glu421= Multiple submitters transcobalamin II deficiency
  • p.Gly352= Multiple submitters transcobalamin II deficiency
  • p.Leu164= Multiple submitters transcobalamin II deficiency
  • p.Leu248= Multiple submitters transcobalamin II deficiency
  • p.Leu359= Multiple submitters transcobalamin II deficiency
  • p.Leu58= Multiple submitters transcobalamin II deficiency
  • p.Phe394= Multiple submitters transcobalamin II deficiency
  • p.Pro24Ser Multiple submitters transcobalamin II deficiency
  • p.Thr204= Multiple submitters transcobalamin II deficiency
  • p.Thr333= Multiple submitters transcobalamin II deficiency
  • p.Tyr412= Multiple submitters transcobalamin II deficiency
  • c.1106+10C>T Single submitter transcobalamin II deficiency
  • c.1106+11C>G Single submitter transcobalamin II deficiency
  • c.1106+11C>T Single submitter transcobalamin II deficiency
  • c.1106+14C>T Single submitter transcobalamin II deficiency
  • c.1107-11C>G Single submitter transcobalamin II deficiency
  • c.1107-11C>T Single submitter transcobalamin II deficiency
  • c.1107-15C>T Single submitter transcobalamin II deficiency
  • c.1107-16C>T Single submitter transcobalamin II deficiency
  • c.1107-17G>T Single submitter transcobalamin II deficiency
  • c.1107-18T>C Single submitter transcobalamin II deficiency
  • c.1107-4G>A Single submitter transcobalamin II deficiency
  • c.1107-6C>T Single submitter transcobalamin II deficiency
  • c.1107-7T>G Single submitter transcobalamin II deficiency
  • c.1107-9C>T Single submitter transcobalamin II deficiency
  • c.1222+11G>A Single submitter transcobalamin II deficiency
  • c.1222+11G>T Single submitter transcobalamin II deficiency
  • c.1222+19C>T Single submitter transcobalamin II deficiency
  • c.1222+228dup Single submitter
  • c.1223-10_1223-9del Single submitter transcobalamin II deficiency
  • c.1223-15A>C Single submitter transcobalamin II deficiency
  • c.1223-16C>T Single submitter transcobalamin II deficiency
  • c.1223-18C>G Single submitter transcobalamin II deficiency
  • c.1223-18C>T Single submitter transcobalamin II deficiency
  • c.1223-19G>A Single submitter transcobalamin II deficiency
  • c.1223-19G>C Single submitter transcobalamin II deficiency
  • c.1223-20T>C Single submitter transcobalamin II deficiency
  • c.1223-22_1223-20del Single submitter transcobalamin II deficiency
  • c.1223-5T>G Single submitter transcobalamin II deficiency
  • c.1223-6C>A Single submitter transcobalamin II deficiency
  • c.1223-6C>T Single submitter transcobalamin II deficiency
  • c.1223-8T>C Single submitter transcobalamin II deficiency
  • c.257+10C>T Single submitter transcobalamin II deficiency
  • c.257+11A>G Single submitter transcobalamin II deficiency
  • c.257+12C>T Single submitter transcobalamin II deficiency
  • c.257+15dup Single submitter transcobalamin II deficiency
  • c.257+16C>A Single submitter transcobalamin II deficiency
  • c.257+16C>T Single submitter transcobalamin II deficiency
  • c.257+17T>C Single submitter transcobalamin II deficiency
  • c.257+188G>T Single submitter
  • c.257+18T>C Single submitter transcobalamin II deficiency
  • c.257+242A>G Single submitter
  • c.257+7C>G Single submitter transcobalamin II deficiency
  • c.257+7C>T Single submitter transcobalamin II deficiency
  • c.257+8C>T Single submitter transcobalamin II deficiency
  • c.258-10C>T Single submitter transcobalamin II deficiency
  • c.258-11C>A Single submitter transcobalamin II deficiency
  • c.258-11C>G Single submitter transcobalamin II deficiency
  • c.258-11C>T Single submitter transcobalamin II deficiency
  • c.258-14T>G Single submitter transcobalamin II deficiency
  • c.258-15C>T Single submitter transcobalamin II deficiency
  • c.258-16A>G Single submitter transcobalamin II deficiency
  • c.258-18dup Single submitter transcobalamin II deficiency
  • c.258-4C>T Single submitter transcobalamin II deficiency
  • c.258-5C>T Single submitter transcobalamin II deficiency
  • c.258-67G>A Single submitter
  • c.258-8_258-6dup Single submitter transcobalamin II deficiency
  • c.258-9T>G Single submitter transcobalamin II deficiency
  • c.427+10C>T Single submitter transcobalamin II deficiency
  • c.427+13C>T Single submitter transcobalamin II deficiency
  • c.427+15T>C Single submitter transcobalamin II deficiency
  • c.427+17C>A Single submitter transcobalamin II deficiency
  • c.427+18G>C Single submitter transcobalamin II deficiency
  • c.427+18G>T Single submitter transcobalamin II deficiency
  • c.427+20T>C Single submitter transcobalamin II deficiency
  • c.427+20T>G Single submitter
  • c.427+8G>A Single submitter transcobalamin II deficiency
  • c.427+8G>T Single submitter transcobalamin II deficiency
  • c.427+9A>G Single submitter transcobalamin II deficiency
  • c.428-10T>C Single submitter transcobalamin II deficiency
  • c.428-11T>G Single submitter transcobalamin II deficiency
  • c.428-14T>G Single submitter transcobalamin II deficiency
  • c.428-15T>C Single submitter transcobalamin II deficiency
  • c.428-17_428-16del Single submitter transcobalamin II deficiency
  • c.428-17_428-16dup Single submitter transcobalamin II deficiency
  • c.428-18dup Single submitter transcobalamin II deficiency
  • c.428-19_428-18del Single submitter transcobalamin II deficiency
  • c.428-19_428-18insG Single submitter transcobalamin II deficiency
  • c.428-31G>A Single submitter
  • c.428-4_428-3del Single submitter transcobalamin II deficiency
  • c.428-5C>G Single submitter transcobalamin II deficiency
  • c.428-5C>T Single submitter transcobalamin II deficiency
  • c.428-7C>G Single submitter transcobalamin II deficiency
  • c.428-8C>T Single submitter transcobalamin II deficiency
  • c.428-9C>A Single submitter transcobalamin II deficiency
  • c.428-9C>T Single submitter transcobalamin II deficiency
  • c.580+10T>C Single submitter transcobalamin II deficiency
  • c.580+16C>T Single submitter transcobalamin II deficiency
  • c.580+17G>T Single submitter transcobalamin II deficiency
  • c.580+20C>T Single submitter transcobalamin II deficiency
  • c.580+7A>G Single submitter transcobalamin II deficiency
  • c.581-10C>T Single submitter transcobalamin II deficiency
  • c.581-14T>C Single submitter transcobalamin II deficiency
  • c.581-15G>A Single submitter transcobalamin II deficiency
  • c.581-176A>C Single submitter transcobalamin II deficiency
  • c.581-176A>G Single submitter transcobalamin II deficiency
  • c.581-20G>A Single submitter transcobalamin II deficiency
  • c.581-7C>T Single submitter
  • c.581-8del Single submitter transcobalamin II deficiency
  • c.64+12_64+16del Single submitter transcobalamin II deficiency
  • c.64+14C>T Single submitter transcobalamin II deficiency
  • c.64+16C>G Single submitter transcobalamin II deficiency
  • c.64+18A>G Single submitter transcobalamin II deficiency
  • c.64+19T>A Single submitter transcobalamin II deficiency
  • c.65-10C>A Single submitter transcobalamin II deficiency
  • c.65-10C>T Single submitter transcobalamin II deficiency
  • c.65-15A>G Single submitter transcobalamin II deficiency
  • c.65-244dup Single submitter
  • c.65-6del Single submitter transcobalamin II deficiency
  • c.65-6T>A Single submitter transcobalamin II deficiency
  • c.65-7T>C Single submitter transcobalamin II deficiency
  • c.65-8T>C Single submitter transcobalamin II deficiency
  • c.65-9T>C Single submitter transcobalamin II deficiency
  • c.753+13C>A Single submitter transcobalamin II deficiency
  • c.753+14C>T Single submitter transcobalamin II deficiency
  • c.753+15C>T Single submitter transcobalamin II deficiency
  • c.753+20G>A Single submitter transcobalamin II deficiency
  • c.753+7A>G Single submitter transcobalamin II deficiency
  • c.753+8A>G Single submitter transcobalamin II deficiency
  • c.753+9G>A Single submitter transcobalamin II deficiency
  • c.754-10C>T Single submitter transcobalamin II deficiency
  • c.754-11T>A Single submitter transcobalamin II deficiency
  • c.754-12C>T Single submitter transcobalamin II deficiency
  • c.754-13_754-10del Single submitter transcobalamin II deficiency
  • c.754-13A>G Single submitter transcobalamin II deficiency
  • c.754-14C>G Single submitter transcobalamin II deficiency
  • c.754-17C>T Single submitter transcobalamin II deficiency
  • c.754-18T>C Single submitter transcobalamin II deficiency
  • c.754-4C>A Single submitter transcobalamin II deficiency
  • c.754-8_754-7del Single submitter transcobalamin II deficiency
  • c.754-8A>G Single submitter transcobalamin II deficiency
  • c.754-9dup Single submitter transcobalamin II deficiency
  • c.940+10C>A Single submitter transcobalamin II deficiency
  • c.941-13C>A Single submitter transcobalamin II deficiency
  • c.941-13C>G Single submitter transcobalamin II deficiency
  • c.941-14T>C Single submitter transcobalamin II deficiency
  • c.941-164C>T Single submitter
  • c.941-17C>G Single submitter transcobalamin II deficiency
  • c.941-17C>T Single submitter transcobalamin II deficiency
  • c.941-18C>T Single submitter transcobalamin II deficiency
  • c.941-4A>G Single submitter transcobalamin II deficiency
  • c.941-5C>T Single submitter transcobalamin II deficiency
  • c.941-6G>C Single submitter transcobalamin II deficiency
  • c.941-8T>C Single submitter transcobalamin II deficiency
  • c.941-9_941-5del Single submitter transcobalamin II deficiency
  • c.941-9C>T Single submitter transcobalamin II deficiency
  • c.*29C>T Single submitter
  • p.Ala106= Single submitter transcobalamin II deficiency
  • p.Ala114= Single submitter transcobalamin II deficiency
  • p.Ala141= Single submitter transcobalamin II deficiency
  • p.Ala199= Single submitter
  • p.Ala233= Single submitter transcobalamin II deficiency
  • p.Ala266= Single submitter transcobalamin II deficiency
  • p.Ala276= Single submitter transcobalamin II deficiency
  • p.Ala282= Single submitter transcobalamin II deficiency
  • p.Ala286= Single submitter transcobalamin II deficiency
  • p.Ala320= Single submitter transcobalamin II deficiency
  • p.Ala374= Single submitter transcobalamin II deficiency
  • p.Ala388= Single submitter transcobalamin II deficiency
  • p.Ala389= Single submitter transcobalamin II deficiency
  • p.Ala410= Single submitter transcobalamin II deficiency
  • p.Ala6= Single submitter transcobalamin II deficiency
  • p.Arg170= Single submitter transcobalamin II deficiency
  • p.Arg216= Single submitter transcobalamin II deficiency
  • p.Arg227= Single submitter transcobalamin II deficiency
  • p.Arg399= Single submitter transcobalamin II deficiency
  • p.Arg59= Single submitter transcobalamin II deficiency
  • p.Asn115= Single submitter transcobalamin II deficiency
  • p.Asn285= Single submitter transcobalamin II deficiency
  • p.Asn297= Single submitter transcobalamin II deficiency
  • p.Asn402= Single submitter transcobalamin II deficiency
  • p.Asn51= Single submitter transcobalamin II deficiency
  • p.Asp145= Single submitter transcobalamin II deficiency
  • p.Asp173= Single submitter transcobalamin II deficiency
  • p.Asp194= Single submitter transcobalamin II deficiency
  • p.Asp27= Single submitter transcobalamin II deficiency
  • p.Asp308= Single submitter transcobalamin II deficiency
  • p.Asp411= Single submitter transcobalamin II deficiency
  • p.Asp93= Single submitter transcobalamin II deficiency
  • p.Asp95= Single submitter transcobalamin II deficiency
  • p.Cys165= Single submitter
  • p.Cys96= Single submitter transcobalamin II deficiency
  • p.Gln104= Single submitter transcobalamin II deficiency
  • p.Gln168= Single submitter transcobalamin II deficiency
  • p.Gln279= Single submitter transcobalamin II deficiency
  • p.Gln291= Single submitter transcobalamin II deficiency
  • p.Gln327= Single submitter transcobalamin II deficiency
  • p.Gln36= Single submitter transcobalamin II deficiency
  • p.Glu356= Single submitter
  • p.Glu393= Single submitter transcobalamin II deficiency
  • p.Gly121= Single submitter transcobalamin II deficiency
  • p.Gly124= Single submitter transcobalamin II deficiency
  • p.Gly143= Single submitter transcobalamin II deficiency
  • p.Gly158= Single submitter transcobalamin II deficiency
  • p.Gly160= Single submitter transcobalamin II deficiency
  • p.Gly189= Single submitter transcobalamin II deficiency
  • p.Gly200= Single submitter transcobalamin II deficiency
  • p.Gly238= Single submitter transcobalamin II deficiency
  • p.Gly281= Single submitter transcobalamin II deficiency
  • p.Gly35= Single submitter transcobalamin II deficiency
  • p.Gly378= Single submitter transcobalamin II deficiency
  • p.Gly386= Single submitter transcobalamin II deficiency
  • p.Gly417= Single submitter transcobalamin II deficiency
  • p.Gly57= Single submitter transcobalamin II deficiency
  • p.Gly94= Single submitter transcobalamin II deficiency
  • p.His190= Single submitter transcobalamin II deficiency
  • p.His239= Single submitter transcobalamin II deficiency
  • p.His29= Single submitter transcobalamin II deficiency
  • p.His49= Single submitter transcobalamin II deficiency
  • p.Ile230= Single submitter transcobalamin II deficiency
  • p.Ile302= Single submitter transcobalamin II deficiency
  • p.Ile302Val Single submitter Inborn genetic diseases
  • p.Ile305= Single submitter transcobalamin II deficiency
  • p.Ile329= Single submitter transcobalamin II deficiency
  • p.Ile347= Single submitter transcobalamin II deficiency
  • p.Ile409= Single submitter transcobalamin II deficiency
  • p.Leu10= Single submitter transcobalamin II deficiency
  • p.Leu109= Single submitter transcobalamin II deficiency
  • p.Leu11= Single submitter transcobalamin II deficiency
  • p.Leu110= Single submitter transcobalamin II deficiency
  • p.Leu127= Single submitter transcobalamin II deficiency
  • p.Leu159= Single submitter transcobalamin II deficiency
  • p.Leu162= Single submitter transcobalamin II deficiency
  • p.Leu180= Single submitter transcobalamin II deficiency
  • p.Leu201= Single submitter transcobalamin II deficiency
  • p.Leu206= Single submitter transcobalamin II deficiency
  • p.Leu231= Single submitter transcobalamin II deficiency
  • p.Leu253= Single submitter transcobalamin II deficiency
  • p.Leu274= Single submitter transcobalamin II deficiency
  • p.Leu287= Single submitter transcobalamin II deficiency
  • p.Leu293= Single submitter transcobalamin II deficiency
  • p.Leu296= Single submitter transcobalamin II deficiency
  • p.Leu304= Single submitter transcobalamin II deficiency
  • p.Leu334= Single submitter transcobalamin II deficiency
  • p.Leu339= Single submitter transcobalamin II deficiency
  • p.Leu340= Single submitter transcobalamin II deficiency
  • p.Leu350= Single submitter transcobalamin II deficiency
  • p.Leu38= Single submitter transcobalamin II deficiency
  • p.Leu397= Single submitter transcobalamin II deficiency
  • p.Leu422= Single submitter transcobalamin II deficiency
  • p.Leu424= Single submitter transcobalamin II deficiency
  • p.Leu50= Single submitter transcobalamin II deficiency
  • p.Leu60= Single submitter transcobalamin II deficiency
  • p.Leu8= Single submitter transcobalamin II deficiency
  • p.Leu84= Single submitter transcobalamin II deficiency
  • p.Leu85= Single submitter transcobalamin II deficiency
  • p.Lys147= Single submitter transcobalamin II deficiency
  • p.Lys169= Single submitter transcobalamin II deficiency
  • p.Lys33= Single submitter transcobalamin II deficiency
  • p.Lys99= Single submitter transcobalamin II deficiency
  • p.Phe134= Single submitter transcobalamin II deficiency
  • p.Phe203= Single submitter transcobalamin II deficiency
  • p.Phe240= Single submitter transcobalamin II deficiency
  • p.Phe252= Single submitter transcobalamin II deficiency
  • p.Phe306= Single submitter transcobalamin II deficiency
  • p.Phe89= Single submitter transcobalamin II deficiency
  • p.Phe9= Single submitter transcobalamin II deficiency
  • p.Pro236= Single submitter transcobalamin II deficiency
  • p.Pro247= Single submitter transcobalamin II deficiency
  • p.Pro294= Single submitter transcobalamin II deficiency
  • p.Pro312= Single submitter transcobalamin II deficiency
  • p.Pro342= Single submitter transcobalamin II deficiency
  • p.Pro379= Single submitter transcobalamin II deficiency
  • p.Pro40= Single submitter transcobalamin II deficiency

Uncertain significance 250