CD320 — 223 ClinVar variants
All ClinVar germline CD320 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →
2 Conflicting · 42 Benign · 5 Benign/Likely benign · 55 Likely benign · 119 Uncertain significance
Full CD320 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 110
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CD320 p.Gly3Ser
Conflicting
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Val113Ile
Conflicting
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
Predictors lean, ClinVar uncertain 62
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CD320 p.Arg129Leu
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Arg138Ser
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Asn170Ser
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Gly30Arg
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Gly4Ala
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Pro104Ser
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Pro93Ser
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Thr244Ile
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Thr71Ser
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Trp12Leu
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Ala11Pro Uncertain significance Single submitter
-
CD320 p.Ala11Val
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Ala219Ser Uncertain significance Single submitter
-
CD320 p.Ala233Val
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Ala267Val
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Ala44Thr Uncertain significance Single submitter
- CD320 p.Ala46Pro Uncertain significance Single submitter
-
CD320 p.Ala47Pro
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Ala47Thr Uncertain significance Single submitter
- CD320 p.Ala7Val Uncertain significance Single submitter
- CD320 p.Arg125Cys Uncertain significance Single submitter
-
CD320 p.Arg129His
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Arg138Pro Uncertain significance Single submitter
-
CD320 p.Arg151Cys
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Arg260His Uncertain significance Single submitter
- CD320 p.Arg90Lys Uncertain significance Single submitter
- CD320 p.Asp115Gly Uncertain significance Single submitter
-
CD320 p.Asp121Glu
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Asp160Tyr Uncertain significance Single submitter
-
CD320 p.Asp163Asn
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Asp75Glu Uncertain significance Single submitter
-
CD320 p.Asp82Val
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Cys145Phe
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Cys158Tyr
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Gln45Glu
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Gln60Leu
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Glu164Lys Uncertain significance Single submitter
-
CD320 p.Gly105Val
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Gly112Ser
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Gly168Arg
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Gly212Arg
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Gly48Arg
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Ile91Val Uncertain significance Single submitter
-
CD320 p.Leu124Pro
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Leu133Val Uncertain significance Single submitter
-
CD320 p.Pro101Arg
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Pro102Leu
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Pro109Leu
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Pro56Ser
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Ser114Gly Uncertain significance Single submitter
-
CD320 p.Ser280Leu
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Ser36Arg Uncertain significance Single submitter
- CD320 p.Ser39Ala Uncertain significance Single submitter
- CD320 p.Ser53Leu Uncertain significance Single submitter
- CD320 p.Thr140Met Uncertain significance Single submitter
- CD320 p.Thr14Lys Uncertain significance Single submitter
-
CD320 p.Thr227Ala
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Thr227Pro
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Thr42Ala Uncertain significance Single submitter
- CD320 p.Thr63Ala Uncertain significance Single submitter
-
CD320 p.Tyr229His
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Val68Met
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
Predictors split 46
The independent predictors disagree with each other — read with care.
-
CD320 p.Arg254Gln
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Arg258Cys
Benign
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Arg258His
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Asp143Asn
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Asp160Asn
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Gly166Val
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Pro184Leu
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Ser117Phe
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Thr14Ile
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Thr169Ile
Uncertain significance
Multiple submitters
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Ala11Glu
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Ala16Thr Uncertain significance Single submitter
- CD320 p.Ala196Ser Uncertain significance Single submitter
-
CD320 p.Ala35Thr
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Ala46Val
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Asn195Ser
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Asn213Lys
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Asn213Thr
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Asp77Asn
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Glu32Asp
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Gly119Glu
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Gly119Val
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Gly135Val
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Gly154Ser Uncertain significance Single submitter
-
CD320 p.Gly200Val
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Gly212Trp
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Gly26Ser
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Gly26Val Uncertain significance Single submitter
-
CD320 p.Gly4Asp
Benign
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Gly65Ser
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Leu148Phe
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Leu249Phe
Likely benign
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Leu250Trp Uncertain significance Single submitter
- CD320 p.Leu259Phe Uncertain significance Single submitter
-
CD320 p.Leu25Phe
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Leu27Phe Likely benign Single submitter
-
CD320 p.Met181Ile
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Pro174Leu
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Pro56Leu
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Ser216Tyr Uncertain significance Single submitter
-
CD320 p.Ser241Asn
Likely benign
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Ser2Ile
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Ser81Asn
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
- CD320 p.Thr198Ile Uncertain significance Single submitter
-
CD320 p.Thr42Ile
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
-
CD320 p.Val9Phe
Uncertain significance
Single submitter
methylmalonic acidemia due to transcobalamin receptor defect
All CD320 variants
Conflicting classifications of pathogenicity 2
- p.Gly3Ser Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Val113Ile Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
Benign 42
- c.142+10G>C Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect
- c.142+39G>C Multiple submitters
- c.143-40G>A Multiple submitters
- c.268+172C>T Multiple submitters
- c.268+185G>A Multiple submitters
- c.268+19T>G Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect
- c.503-48G>T Multiple submitters
- c.707-15A>T Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect
- c.707-36C>G Multiple submitters
- c.-2G>A Multiple submitters
- c.*129C>T Multiple submitters
- c.*189G>A Multiple submitters
- c.*83C>G Multiple submitters
- p.Arg258Cys Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gln8Arg Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect
- p.Gly220Arg Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect
- p.Ser161= Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect
- p.Thr149= Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect
- p.Thr279= Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect
- c.142+164C>T Single submitter
- c.142+180C>A Single submitter
- c.268+175A>G Single submitter
- c.268+251C>T Single submitter
- c.268+306A>G Single submitter
- c.269-107del Single submitter
- c.269-249C>G Single submitter
- c.269-293A>G Single submitter
- c.502+118G>A Single submitter
- c.502+297C>A Single submitter
- c.502+309G>A Single submitter
- c.503-120_503-118dup Single submitter
- c.503-124C>T Single submitter
- c.503-153dup Single submitter
- c.503-154C>A Single submitter
- c.503-155C>T Single submitter
- c.503-18C>T Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- c.503-244T>G Single submitter
- c.503-278T>G Single submitter
- c.503-294C>T Single submitter
- p.Gly4Asp Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Ile146= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Leu165= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
Benign/Likely benign 5
- c.143-11C>T Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect
- p.Glu257Lys Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect
- p.Leu253= Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect
- p.Pro174= Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect
- p.Ser280= Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect
Likely benign 55
- p.Asn126= Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect
- c.142+10G>A Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- c.143-4G>A Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- c.143-5C>T Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- c.143-9A>G Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- c.268+12C>T Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- c.268+15C>T Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- c.268+35G>A Single submitter
- c.269-13C>A Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- c.269-4C>G Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- c.502+12C>T Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- c.502+13G>C Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- c.503-135del Single submitter
- c.503-155_503-154del Single submitter
- c.503-17G>T Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- c.707-12T>C Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- c.707-19_707-18del Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Ala196= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Ala219= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Ala236= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Ala236Val Single submitter
- p.Arg125His Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Asp153= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Cys152= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Cys67= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Cys80= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Gln96= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Gly135= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Gly220= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Ile172= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Ile172Thr Single submitter
- p.Leu106= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Leu173= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Leu205= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Leu249Phe Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Leu25= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Leu27Phe Single submitter ⚠
- p.Leu70= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Pro102= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Pro159= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Pro209= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Pro37= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Ser162= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Ser2= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Ser207= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Ser210= Single submitter
- p.Ser241Asn Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Thr111= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Thr149Met Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Thr227= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Thr42= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Thr95= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Val185= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Val211= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Gly263= No assertion criteria CD320-related disorder
Uncertain significance 119
- p.Arg129Leu Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Arg138Ser Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Arg254Gln Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Arg258His Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Asn170Ser Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Asp143Asn Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Asp160Asn Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gly166Val Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gly30Arg Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gly4Ala Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Pro104Ser Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Pro184Leu Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Pro93Ser Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Ser117Phe Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Thr14Ile Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Thr169Ile Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Thr244Ile Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Thr71Ser Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Trp12Leu Multiple submitters methylmalonic acidemia due to transcobalamin receptor defect ⚠
- c.142+4A>G Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- c.268+4A>C Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- c.502+3A>G Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Ala11Glu Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Ala11Pro Single submitter ⚠
- p.Ala11Val Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Ala16Thr Single submitter ⚠
- p.Ala196Ser Single submitter ⚠
- p.Ala219Ser Single submitter ⚠
- p.Ala233Val Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Ala267Val Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Ala35Thr Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Ala44Thr Single submitter ⚠
- p.Ala46Pro Single submitter ⚠
- p.Ala46Val Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Ala47Pro Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Ala47Thr Single submitter ⚠
- p.Ala7Val Single submitter ⚠
- p.Arg125Cys Single submitter ⚠
- p.Arg129His Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Arg138Pro Single submitter ⚠
- p.Arg151Cys Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Arg254= Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Arg254Ter Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Arg260His Single submitter ⚠
- p.Arg90Lys Single submitter ⚠
- p.Asn195Ser Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Asn213Lys Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Asn213Thr Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Asp115Gly Single submitter ⚠
- p.Asp121Glu Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Asp160Tyr Single submitter ⚠
- p.Asp163Asn Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Asp75Glu Single submitter ⚠
- p.Asp77Asn Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Asp82Val Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Cys145Phe Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Cys158Tyr Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gln45Glu Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gln60Leu Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gln60Ter Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Glu164Lys Single submitter ⚠
- p.Glu32Asp Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Glu88_Cys89insGlu Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Gly105Val Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gly112Ser Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gly119Glu Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gly119Val Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gly135Val Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gly154Ser Single submitter ⚠
- p.Gly168Arg Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gly200Val Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gly212Arg Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gly212Trp Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gly26Ser Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gly26Val Single submitter ⚠
- p.Gly48Arg Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Gly65Ser Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Ile91Val Single submitter ⚠
- p.Leu124Pro Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Leu133Val Single submitter ⚠
- p.Leu148Phe Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Leu24_Leu25dup Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Leu250Trp Single submitter ⚠
- p.Leu259Phe Single submitter ⚠
- p.Leu25Phe Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Leu66fs Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Met181Ile Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Met1Ile Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Pro101Arg Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Pro102Leu Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Pro109Leu Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Pro174Leu Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Pro56Leu Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Pro56Ser Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Pro69Thr Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Ser114Gly Single submitter ⚠
- p.Ser216Tyr Single submitter ⚠
- p.Ser280Leu Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Ser2Ile Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Ser36Arg Single submitter ⚠
- p.Ser39Ala Single submitter ⚠
- p.Ser53Leu Single submitter ⚠
- p.Ser81Asn Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Thr140Met Single submitter ⚠
- p.Thr14Lys Single submitter ⚠
- p.Thr191_Val208del Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Thr198Ile Single submitter ⚠
- p.Thr227Ala Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Thr227Pro Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Thr42Ala Single submitter ⚠
- p.Thr42Ile Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Thr57fs Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Thr63Ala Single submitter ⚠
- p.Tyr229His Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Val185fs Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Val208_Pro209insThrSerLeuArgAsnAlaThrThrMetGlyProProValThrLeuGluSerVal Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Val208del Single submitter methylmalonic acidemia due to transcobalamin receptor defect
- p.Val68Met Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠
- p.Val9Phe Single submitter methylmalonic acidemia due to transcobalamin receptor defect ⚠