Sugi Variant

Sugi Variant/MTR

MTR — 1388 ClinVar variants

All ClinVar germline MTR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 281 flagged for review →

59 Pathogenic · 6 Pathogenic/Likely pathogenic · 39 Likely pathogenic · 41 Conflicting · 161 Benign · 30 Benign/Likely benign · 650 Likely benign · 402 Uncertain significance

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

⚑ Evidence disagreements 281

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 15

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

Predictors lean, ClinVar uncertain 200

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 200

Predictors split 65

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

All MTR variants

Pathogenic 59

Pathogenic/Likely pathogenic 6

  • c.340-166A>G Multiple submitters methylcobalamin deficiency type cblG
  • c.866-2A>C Multiple submitters methylcobalamin deficiency type cblG
  • p.Arg585Ter Multiple submitters neural tube defects, folate-sensitive
  • p.Arg802Ter Multiple submitters methylcobalamin deficiency type cblG
  • p.Pro1173Leu Multiple submitters MTR-related disorder ⚠
  • p.Val401fs Multiple submitters methylcobalamin deficiency type cblG

Likely pathogenic 39

  • c.1812+1G>A Multiple submitters methylcobalamin deficiency type cblG
  • c.2595-2A>G Multiple submitters methylcobalamin deficiency type cblG
  • p.Asn1018fs Multiple submitters methylcobalamin deficiency type cblG
  • c.1188+1G>A Single submitter methylcobalamin deficiency type cblG
  • c.1515+2T>C Single submitter methylcobalamin deficiency type cblG
  • c.1695+2T>A Single submitter neural tube defects, folate-sensitive
  • c.1954-12A>G Single submitter methylcobalamin deficiency type cblG
  • c.2044-1_2047del Single submitter methylcobalamin deficiency type cblG
  • c.2044-1G>A Single submitter methylcobalamin deficiency type cblG
  • c.2305-1G>T Single submitter methylcobalamin deficiency type cblG
  • c.2305-2A>G Single submitter methylcobalamin deficiency type cblG
  • c.2406-1G>A Single submitter methylcobalamin deficiency type cblG
  • c.2406-2A>G Single submitter methylcobalamin deficiency type cblG
  • c.2406-2A>T Single submitter methylcobalamin deficiency type cblG
  • c.2775+1G>T Single submitter methylcobalamin deficiency type cblG
  • c.2851+2T>G Single submitter methylcobalamin deficiency type cblG
  • c.3007+1G>A Single submitter methylcobalamin deficiency type cblG
  • c.3007+1G>C Single submitter methylcobalamin deficiency type cblG
  • c.3008-2A>G Single submitter methylcobalamin deficiency type cblG
  • c.3008-4A>G Single submitter methylcobalamin deficiency type cblG
  • c.3406-2A>G Single submitter methylcobalamin deficiency type cblG
  • c.3712-1G>A Single submitter neural tube defects, folate-sensitive
  • c.503-2A>G Single submitter methylcobalamin deficiency type cblG
  • c.927+1G>A Single submitter methylcobalamin deficiency type cblG
  • c.927+1G>C Single submitter methylcobalamin deficiency type cblG
  • p.Arg674His Single submitter methylcobalamin deficiency type cblG
  • p.Asn379Asp Single submitter methylcobalamin deficiency type cblG
  • p.Asn668fs Single submitter
  • p.Asp1119fs Single submitter MTR-related disorder
  • p.Asp825Gly Single submitter MTR-related disorder
  • p.Cys812fs Single submitter
  • p.Gln411Ter Single submitter neural tube defects, folate-sensitive
  • p.Gln505Ter Single submitter neural tube defects, folate-sensitive
  • p.Glu1108Ter Single submitter
  • p.Glu214fs Single submitter neural tube defects, folate-sensitive
  • p.Leu930Ter Single submitter methylcobalamin deficiency type cblG
  • p.Met1fs Single submitter
  • p.Trp975Ter Single submitter MTR-related disorder
  • p.Ala129Pro No assertion criteria homocystinuria

Conflicting classifications of pathogenicity 41

  • c.1695+15G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.1953+6G>C Single submitter methylcobalamin deficiency type cblG
  • c.2405+8A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.250-1G>C Single submitter methylcobalamin deficiency type cblG
  • c.502+13C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.764+6T>C Single submitter methylcobalamin deficiency type cblG
  • c.866-10C>G Single submitter methylcobalamin deficiency type cblG
  • c.-6G>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Ala381Thr Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Ala410Pro Single submitter neural tube defects, folate-sensitive ⚠
  • p.Ala818= Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Arg1027Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1027Trp Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Arg514Ser Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Arg61= Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Arg674Cys Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Arg674Ser Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asn998= Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Asp1012Val Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asp1042= Single submitter methylcobalamin deficiency type cblG
  • p.Asp621Gly Single submitter Inborn genetic diseases ⚠
  • p.Gln772Arg Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Glu376= Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Gly828Ser Single submitter methylcobalamin deficiency type cblG ⚠
  • p.His595Pro Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Ile661Thr Single submitter Inborn genetic diseases ⚠
  • p.Leu360= Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Leu896= Single submitter methylcobalamin deficiency type cblG
  • p.Lys659= Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Met495Ile Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Met495Val Single submitter Inborn genetic diseases ⚠
  • p.Pro367= Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Pro874= Single submitter methylcobalamin deficiency type cblG
  • p.Ser450Asp Single submitter methylcobalamin deficiency type cblG
  • p.Ser574= Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Ser938Ile Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Thr1076Met Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Tyr520Cys Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Val248Met Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Val619Leu Single submitter Inborn genetic diseases ⚠
  • p.Val776= Single submitter Disorders of Intracellular Cobalamin Metabolism

Benign 161

Benign/Likely benign 30

  • c.1076-11C>T Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • c.1076-8C>T Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • c.2044-9C>T Multiple submitters
  • c.2473+8G>T Multiple submitters methylcobalamin deficiency type cblG
  • c.2474-16A>T Multiple submitters methylcobalamin deficiency type cblG
  • c.2474-17A>T Multiple submitters methylcobalamin deficiency type cblG
  • c.2474-18_2474-17del Multiple submitters methylcobalamin deficiency type cblG
  • c.2474-19_2474-18del Multiple submitters
  • c.2474-20_2474-18del Multiple submitters
  • c.2474-4dup Multiple submitters methylcobalamin deficiency type cblG
  • c.2474-5_2474-4dup Multiple submitters methylcobalamin deficiency type cblG
  • c.250-7G>A Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • c.3007+20C>A Multiple submitters methylcobalamin deficiency type cblG
  • c.3599-11G>A Multiple submitters methylcobalamin deficiency type cblG
  • c.3712-7T>G Multiple submitters neural tube defects, folate-sensitive
  • c.669+20C>T Multiple submitters methylcobalamin deficiency type cblG
  • c.764+16T>C Multiple submitters methylcobalamin deficiency type cblG
  • c.*15_*16del Multiple submitters
  • p.Arg52Gln Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Asp479= Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Asp783= Multiple submitters methylcobalamin deficiency type cblG
  • p.Gly939Arg Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Ile1195Val Multiple submitters Inborn genetic diseases
  • p.Leu1158= Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Leu901= Multiple submitters methylcobalamin deficiency type cblG
  • p.Leu924= Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Pro1258= Multiple submitters methylcobalamin deficiency type cblG
  • p.Pro286= Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Tyr1047= Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Val345Ile Multiple submitters Disorders of Intracellular Cobalamin Metabolism

Likely benign 650

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

  • c.1075+130G>A Multiple submitters
  • c.1075+7C>T Multiple submitters methylcobalamin deficiency type cblG
  • c.1188+19C>T Multiple submitters methylcobalamin deficiency type cblG
  • c.1515+102C>T Multiple submitters
  • c.1515+103A>C Multiple submitters
  • c.1696-143T>C Multiple submitters
  • c.1953+7A>G Multiple submitters methylcobalamin deficiency type cblG
  • c.1954-12A>C Multiple submitters methylcobalamin deficiency type cblG
  • c.2043+10A>G Multiple submitters methylcobalamin deficiency type cblG
  • c.2044-2A>T Multiple submitters
  • c.2196+19G>T Multiple submitters methylcobalamin deficiency type cblG
  • c.2473+14A>G Multiple submitters methylcobalamin deficiency type cblG
  • c.2474-19_2474-15del Multiple submitters methylcobalamin deficiency type cblG
  • c.2474-19_2474-18insA Multiple submitters methylcobalamin deficiency type cblG
  • c.2775+17G>T Multiple submitters methylcobalamin deficiency type cblG
  • c.3405+18C>T Multiple submitters methylcobalamin deficiency type cblG
  • c.3405+19G>A Multiple submitters methylcobalamin deficiency type cblG
  • c.35-19A>G Multiple submitters methylcobalamin deficiency type cblG
  • c.3598+15G>A Multiple submitters methylcobalamin deficiency type cblG
  • c.409+15_409+17del Multiple submitters methylcobalamin deficiency type cblG
  • c.866-94T>C Multiple submitters
  • c.*287G>A Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • c.*2887C>G Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Ala1113Thr Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Ala1212= Multiple submitters methylcobalamin deficiency type cblG
  • p.Arg1172= Multiple submitters methylcobalamin deficiency type cblG
  • p.Asp1084= Multiple submitters methylcobalamin deficiency type cblG
  • p.Asp1119= Multiple submitters methylcobalamin deficiency type cblG
  • p.Glu911= Multiple submitters methylcobalamin deficiency type cblG
  • p.Gly186= Multiple submitters methylcobalamin deficiency type cblG
  • p.Gly36= Multiple submitters methylcobalamin deficiency type cblG
  • p.Gly465= Multiple submitters methylcobalamin deficiency type cblG
  • p.Gly745= Multiple submitters methylcobalamin deficiency type cblG
  • p.His250= Multiple submitters methylcobalamin deficiency type cblG
  • p.Ile956= Multiple submitters methylcobalamin deficiency type cblG
  • p.Leu357= Multiple submitters methylcobalamin deficiency type cblG
  • p.Leu87= Multiple submitters methylcobalamin deficiency type cblG
  • p.Phe213= Multiple submitters methylcobalamin deficiency type cblG
  • p.Pro148= Multiple submitters Inborn genetic diseases
  • p.Pro162= Multiple submitters methylcobalamin deficiency type cblG
  • p.Pro362= Multiple submitters methylcobalamin deficiency type cblG
  • p.Ser581= Multiple submitters methylcobalamin deficiency type cblG
  • p.Tyr921= Multiple submitters methylcobalamin deficiency type cblG
  • p.Val970= Multiple submitters methylcobalamin deficiency type cblG
  • c.1075+12A>C Single submitter methylcobalamin deficiency type cblG
  • c.1075+14A>T Single submitter methylcobalamin deficiency type cblG
  • c.1075+19G>T Single submitter methylcobalamin deficiency type cblG
  • c.1076-11C>G Single submitter methylcobalamin deficiency type cblG
  • c.1076-16T>C Single submitter methylcobalamin deficiency type cblG
  • c.1076-19A>T Single submitter methylcobalamin deficiency type cblG
  • c.1076-20A>T Single submitter methylcobalamin deficiency type cblG
  • c.1076-9C>T Single submitter methylcobalamin deficiency type cblG
  • c.1188+7A>G Single submitter methylcobalamin deficiency type cblG
  • c.1189-11T>C Single submitter methylcobalamin deficiency type cblG
  • c.1189-14C>G Single submitter methylcobalamin deficiency type cblG
  • c.1189-17_1189-14del Single submitter methylcobalamin deficiency type cblG
  • c.1189-18C>T Single submitter methylcobalamin deficiency type cblG
  • c.1189-19T>G Single submitter methylcobalamin deficiency type cblG
  • c.1189-20C>T Single submitter methylcobalamin deficiency type cblG
  • c.1189-7C>T Single submitter methylcobalamin deficiency type cblG
  • c.1329+14T>C Single submitter methylcobalamin deficiency type cblG
  • c.1329+15_1329+16del Single submitter methylcobalamin deficiency type cblG
  • c.1329+15A>G Single submitter methylcobalamin deficiency type cblG
  • c.1329+16del Single submitter methylcobalamin deficiency type cblG
  • c.1329+16T>C Single submitter methylcobalamin deficiency type cblG
  • c.1329+19T>G Single submitter methylcobalamin deficiency type cblG
  • c.1329+9A>G Single submitter methylcobalamin deficiency type cblG
  • c.1330-10C>T Single submitter methylcobalamin deficiency type cblG
  • c.1330-12T>C Single submitter methylcobalamin deficiency type cblG
  • c.1330-5C>A Single submitter methylcobalamin deficiency type cblG
  • c.1515+14T>G Single submitter methylcobalamin deficiency type cblG
  • c.1515+16T>C Single submitter methylcobalamin deficiency type cblG
  • c.1515+17G>A Single submitter methylcobalamin deficiency type cblG
  • c.1515+26C>T Single submitter
  • c.1515+8G>C Single submitter methylcobalamin deficiency type cblG
  • c.1515+9_1515+18del Single submitter methylcobalamin deficiency type cblG
  • c.1516-11C>G Single submitter methylcobalamin deficiency type cblG
  • c.1516-11C>T Single submitter methylcobalamin deficiency type cblG
  • c.1516-19C>T Single submitter methylcobalamin deficiency type cblG
  • c.1516-201G>A Single submitter
  • c.1516-5C>T Single submitter methylcobalamin deficiency type cblG
  • c.1516-6C>G Single submitter methylcobalamin deficiency type cblG
  • c.1516-6C>T Single submitter methylcobalamin deficiency type cblG
  • c.1516-7T>G Single submitter methylcobalamin deficiency type cblG
  • c.1516-83A>C Single submitter
  • c.1695+10G>A Single submitter methylcobalamin deficiency type cblG
  • c.1695+11G>A Single submitter methylcobalamin deficiency type cblG
  • c.1695+13A>G Single submitter methylcobalamin deficiency type cblG
  • c.1695+13A>T Single submitter methylcobalamin deficiency type cblG
  • c.1695+14T>C Single submitter methylcobalamin deficiency type cblG
  • c.1695+17T>G Single submitter methylcobalamin deficiency type cblG
  • c.1695+18C>T Single submitter methylcobalamin deficiency type cblG
  • c.1695+20C>T Single submitter methylcobalamin deficiency type cblG
  • c.1695+7G>A Single submitter methylcobalamin deficiency type cblG
  • c.1695+7G>T Single submitter methylcobalamin deficiency type cblG
  • c.1696-14A>G Single submitter methylcobalamin deficiency type cblG
  • c.1696-18T>C Single submitter methylcobalamin deficiency type cblG
  • c.1696-19A>G Single submitter methylcobalamin deficiency type cblG
  • c.1696-4C>T Single submitter methylcobalamin deficiency type cblG
  • c.1696-5G>A Single submitter methylcobalamin deficiency type cblG
  • c.1696-5G>T Single submitter methylcobalamin deficiency type cblG
  • c.1696-6T>C Single submitter methylcobalamin deficiency type cblG
  • c.1812+10A>G Single submitter methylcobalamin deficiency type cblG
  • c.1812+12G>T Single submitter methylcobalamin deficiency type cblG
  • c.1812+15C>T Single submitter methylcobalamin deficiency type cblG
  • c.1812+16T>A Single submitter methylcobalamin deficiency type cblG
  • c.1812+17C>T Single submitter methylcobalamin deficiency type cblG
  • c.1813-11A>G Single submitter methylcobalamin deficiency type cblG
  • c.1953+11A>C Single submitter methylcobalamin deficiency type cblG
  • c.1953+12A>G Single submitter methylcobalamin deficiency type cblG
  • c.1953+13G>A Single submitter methylcobalamin deficiency type cblG
  • c.1953+15G>T Single submitter methylcobalamin deficiency type cblG
  • c.1953+18C>T Single submitter methylcobalamin deficiency type cblG
  • c.1953+19T>A Single submitter methylcobalamin deficiency type cblG
  • c.1953+20A>G Single submitter methylcobalamin deficiency type cblG
  • c.1953+9A>C Single submitter methylcobalamin deficiency type cblG
  • c.1954-11T>A Single submitter methylcobalamin deficiency type cblG
  • c.1954-19G>C Single submitter methylcobalamin deficiency type cblG
  • c.1954-4T>C Single submitter methylcobalamin deficiency type cblG
  • c.2043+15C>T Single submitter methylcobalamin deficiency type cblG
  • c.2043+18G>C Single submitter methylcobalamin deficiency type cblG
  • c.2043+8A>G Single submitter methylcobalamin deficiency type cblG
  • c.2043+9C>T Single submitter methylcobalamin deficiency type cblG
  • c.2044-11_2044-9del Single submitter methylcobalamin deficiency type cblG
  • c.2044-11dup Single submitter methylcobalamin deficiency type cblG
  • c.2044-12del Single submitter
  • c.2044-12dup Single submitter
  • c.2044-12T>C Single submitter methylcobalamin deficiency type cblG
  • c.2044-13_2044-12del Single submitter
  • c.2044-17T>C Single submitter methylcobalamin deficiency type cblG
  • c.2044-19T>C Single submitter methylcobalamin deficiency type cblG
  • c.2044-20T>C Single submitter methylcobalamin deficiency type cblG
  • c.2044-4T>C Single submitter methylcobalamin deficiency type cblG
  • c.2044-7T>G Single submitter methylcobalamin deficiency type cblG
  • c.2044-8T>C Single submitter methylcobalamin deficiency type cblG
  • c.2196+12A>C Single submitter methylcobalamin deficiency type cblG
  • c.2196+13T>C Single submitter methylcobalamin deficiency type cblG
  • c.2196+15G>A Single submitter methylcobalamin deficiency type cblG
  • c.2196+17G>A Single submitter methylcobalamin deficiency type cblG
  • c.2196+17G>C Single submitter methylcobalamin deficiency type cblG
  • c.2196+19G>A Single submitter methylcobalamin deficiency type cblG
  • c.2197-11T>C Single submitter methylcobalamin deficiency type cblG
  • c.2197-18C>A Single submitter methylcobalamin deficiency type cblG
  • c.2197-18C>G Single submitter methylcobalamin deficiency type cblG
  • c.2197-5C>G Single submitter methylcobalamin deficiency type cblG
  • c.2197-6T>C Single submitter methylcobalamin deficiency type cblG
  • c.2304+16C>A Single submitter methylcobalamin deficiency type cblG
  • c.2304+16C>T Single submitter methylcobalamin deficiency type cblG
  • c.2305-11T>C Single submitter methylcobalamin deficiency type cblG
  • c.2305-11T>G Single submitter methylcobalamin deficiency type cblG
  • c.2305-14G>T Single submitter methylcobalamin deficiency type cblG
  • c.2305-4C>T Single submitter methylcobalamin deficiency type cblG
  • c.2305-5T>C Single submitter methylcobalamin deficiency type cblG
  • c.2305-9C>T Single submitter methylcobalamin deficiency type cblG
  • c.2405+11A>T Single submitter methylcobalamin deficiency type cblG
  • c.2405+13C>T Single submitter methylcobalamin deficiency type cblG
  • c.2405+18del Single submitter methylcobalamin deficiency type cblG
  • c.2405+20C>G Single submitter methylcobalamin deficiency type cblG
  • c.2405+20C>T Single submitter methylcobalamin deficiency type cblG
  • c.2406-106C>T Single submitter
  • c.2406-10T>C Single submitter methylcobalamin deficiency type cblG
  • c.2406-18C>G Single submitter methylcobalamin deficiency type cblG
  • c.2406-18C>T Single submitter methylcobalamin deficiency type cblG
  • c.2406-8T>G Single submitter methylcobalamin deficiency type cblG
  • c.2406-9G>C Single submitter methylcobalamin deficiency type cblG
  • c.2473+17C>T Single submitter methylcobalamin deficiency type cblG
  • c.2473+20T>A Single submitter methylcobalamin deficiency type cblG
  • c.2473+9C>A Single submitter methylcobalamin deficiency type cblG
  • c.2474-10A>T Single submitter methylcobalamin deficiency type cblG
  • c.2474-145_2474-144insT Single submitter
  • c.2474-15A>T Single submitter methylcobalamin deficiency type cblG
  • c.2474-17_2474-16inv Single submitter methylcobalamin deficiency type cblG
  • c.2474-18_2474-17insTA Single submitter methylcobalamin deficiency type cblG
  • c.2474-18T>C Single submitter methylcobalamin deficiency type cblG
  • c.2474-19_2474-16del Single submitter methylcobalamin deficiency type cblG
  • c.2474-19_2474-17del Single submitter methylcobalamin deficiency type cblG
  • c.2474-19_2474-18insAA Single submitter methylcobalamin deficiency type cblG
  • c.2474-19_2474-18inv Single submitter methylcobalamin deficiency type cblG
  • c.2474-20_2474-19insA Single submitter methylcobalamin deficiency type cblG
  • c.2474-20T>A Single submitter methylcobalamin deficiency type cblG
  • c.2474-9A>C Single submitter methylcobalamin deficiency type cblG
  • c.249+11C>T Single submitter methylcobalamin deficiency type cblG
  • c.249+15G>T Single submitter methylcobalamin deficiency type cblG
  • c.249+16del Single submitter methylcobalamin deficiency type cblG
  • c.249+17T>C Single submitter methylcobalamin deficiency type cblG
  • c.249+19C>G Single submitter methylcobalamin deficiency type cblG
  • c.249+20C>G Single submitter methylcobalamin deficiency type cblG
  • c.250-10C>G Single submitter methylcobalamin deficiency type cblG
  • c.250-12C>G Single submitter methylcobalamin deficiency type cblG
  • c.250-15A>C Single submitter methylcobalamin deficiency type cblG
  • c.250-20A>G Single submitter methylcobalamin deficiency type cblG
  • c.250-4dup Single submitter methylcobalamin deficiency type cblG
  • c.2594+10A>G Single submitter methylcobalamin deficiency type cblG
  • c.2594+11C>T Single submitter methylcobalamin deficiency type cblG
  • c.2594+16G>A Single submitter methylcobalamin deficiency type cblG
  • c.2594+18G>A Single submitter methylcobalamin deficiency type cblG
  • c.2594+19C>G Single submitter methylcobalamin deficiency type cblG
  • c.2594+20_2594+28dup Single submitter methylcobalamin deficiency type cblG
  • c.2595-8C>G Single submitter methylcobalamin deficiency type cblG
  • c.2595-8C>T Single submitter methylcobalamin deficiency type cblG
  • c.2676+11G>A Single submitter methylcobalamin deficiency type cblG
  • c.2676+14C>G Single submitter methylcobalamin deficiency type cblG
  • c.2676+17A>C Single submitter methylcobalamin deficiency type cblG
  • c.2676+17A>G Single submitter methylcobalamin deficiency type cblG
  • c.2676+19A>G Single submitter methylcobalamin deficiency type cblG
  • c.2676+8G>T Single submitter methylcobalamin deficiency type cblG
  • c.2677-10dup Single submitter methylcobalamin deficiency type cblG
  • c.2677-13C>T Single submitter methylcobalamin deficiency type cblG
  • c.2677-15A>G Single submitter methylcobalamin deficiency type cblG
  • c.2677-5T>G Single submitter methylcobalamin deficiency type cblG
  • c.2775+122A>G Single submitter
  • c.2775+17G>A Single submitter methylcobalamin deficiency type cblG
  • c.2775+19T>C Single submitter methylcobalamin deficiency type cblG
  • c.2775+19T>G Single submitter methylcobalamin deficiency type cblG
  • c.2775+7G>A Single submitter methylcobalamin deficiency type cblG
  • c.2776-11T>G Single submitter methylcobalamin deficiency type cblG
  • c.2776-139C>T Single submitter
  • c.2776-16C>T Single submitter methylcobalamin deficiency type cblG
  • c.2851+13A>G Single submitter methylcobalamin deficiency type cblG
  • c.2851+8T>G Single submitter methylcobalamin deficiency type cblG
  • c.2851+9G>C Single submitter
  • c.2852-11C>G Single submitter methylcobalamin deficiency type cblG
  • c.2852-13T>C Single submitter methylcobalamin deficiency type cblG
  • c.2852-15A>T Single submitter methylcobalamin deficiency type cblG
  • c.2852-17A>G Single submitter methylcobalamin deficiency type cblG
  • c.2852-18C>T Single submitter methylcobalamin deficiency type cblG
  • c.2852-4G>T Single submitter methylcobalamin deficiency type cblG
  • c.2852-7C>T Single submitter methylcobalamin deficiency type cblG
  • c.3007+11T>C Single submitter methylcobalamin deficiency type cblG
  • c.3007+15T>G Single submitter methylcobalamin deficiency type cblG
  • c.3007+20C>T Single submitter methylcobalamin deficiency type cblG
  • c.3007+7G>A Single submitter methylcobalamin deficiency type cblG
  • c.3008-13G>T Single submitter methylcobalamin deficiency type cblG
  • c.3008-15C>A Single submitter methylcobalamin deficiency type cblG
  • c.3008-19_3008-14del Single submitter methylcobalamin deficiency type cblG
  • c.3008-5A>G Single submitter methylcobalamin deficiency type cblG
  • c.3204+11T>C Single submitter methylcobalamin deficiency type cblG
  • c.3204+14A>G Single submitter methylcobalamin deficiency type cblG
  • c.3204+20A>C Single submitter methylcobalamin deficiency type cblG
  • c.3204+20A>G Single submitter methylcobalamin deficiency type cblG
  • c.3204+9G>A Single submitter methylcobalamin deficiency type cblG
  • c.3205-12C>T Single submitter methylcobalamin deficiency type cblG
  • c.3205-13C>T Single submitter methylcobalamin deficiency type cblG
  • c.3205-15C>T Single submitter methylcobalamin deficiency type cblG
  • c.3205-16A>G Single submitter methylcobalamin deficiency type cblG
  • c.3205-18A>G Single submitter methylcobalamin deficiency type cblG
  • c.3205-202C>G Single submitter
  • c.3205-7T>C Single submitter methylcobalamin deficiency type cblG
  • c.3205-8G>C Single submitter methylcobalamin deficiency type cblG
  • c.3205-9G>T Single submitter methylcobalamin deficiency type cblG
  • c.339+12A>G Single submitter methylcobalamin deficiency type cblG
  • c.339+19C>T Single submitter methylcobalamin deficiency type cblG
  • c.339+20A>G Single submitter methylcobalamin deficiency type cblG
  • c.340-165G>T Single submitter
  • c.340-166A>C Single submitter methylcobalamin deficiency type cblG
  • c.340-20G>A Single submitter methylcobalamin deficiency type cblG
  • c.340-5G>C Single submitter methylcobalamin deficiency type cblG
  • c.340-9A>T Single submitter methylcobalamin deficiency type cblG
  • c.3405+17G>A Single submitter methylcobalamin deficiency type cblG
  • c.3405+21del Single submitter methylcobalamin deficiency type cblG
  • c.3405+6_3405+33dup Single submitter methylcobalamin deficiency type cblG
  • c.3406-12T>C Single submitter methylcobalamin deficiency type cblG
  • c.3406-20C>T Single submitter methylcobalamin deficiency type cblG
  • c.3406-4C>T Single submitter methylcobalamin deficiency type cblG
  • c.3406-5C>T Single submitter methylcobalamin deficiency type cblG
  • c.35-12C>T Single submitter methylcobalamin deficiency type cblG
  • c.35-14del Single submitter methylcobalamin deficiency type cblG
  • c.3598+13A>C Single submitter methylcobalamin deficiency type cblG
  • c.3598+18G>A Single submitter methylcobalamin deficiency type cblG
  • c.3598+19C>T Single submitter methylcobalamin deficiency type cblG
  • c.3598+20G>A Single submitter methylcobalamin deficiency type cblG
  • c.3598+20G>C Single submitter methylcobalamin deficiency type cblG
  • c.3599-14G>A Single submitter methylcobalamin deficiency type cblG
  • c.3599-14G>C Single submitter methylcobalamin deficiency type cblG
  • c.3599-17T>C Single submitter methylcobalamin deficiency type cblG
  • c.3599-18_3599-17del Single submitter methylcobalamin deficiency type cblG
  • c.3599-4C>G Single submitter methylcobalamin deficiency type cblG
  • c.3599-4C>T Single submitter methylcobalamin deficiency type cblG
  • c.3599-5T>C Single submitter methylcobalamin deficiency type cblG
  • c.3599-6C>G Single submitter methylcobalamin deficiency type cblG
  • c.3599-8C>T Single submitter methylcobalamin deficiency type cblG
  • c.3711+10C>A Single submitter methylcobalamin deficiency type cblG
  • c.3711+10C>T Single submitter methylcobalamin deficiency type cblG
  • c.3711+15del Single submitter methylcobalamin deficiency type cblG
  • c.3711+194_3711+195insTGCGCGCGCGCGCACGCGCGCG Single submitter
  • c.3711+194A>G Single submitter
  • c.3711+196A>G Single submitter
  • c.3711+20A>G Single submitter methylcobalamin deficiency type cblG
  • c.3711+22_3711+23del Single submitter methylcobalamin deficiency type cblG
  • c.3711+8A>C Single submitter
  • c.3712-4G>A Single submitter methylcobalamin deficiency type cblG
  • c.3712-9C>A Single submitter methylcobalamin deficiency type cblG
  • c.409+14T>G Single submitter methylcobalamin deficiency type cblG
  • c.409+16C>T Single submitter methylcobalamin deficiency type cblG
  • c.409+17T>C Single submitter methylcobalamin deficiency type cblG
  • c.502+14A>G Single submitter methylcobalamin deficiency type cblG
  • c.502+15C>T Single submitter methylcobalamin deficiency type cblG
  • c.502+16A>C Single submitter methylcobalamin deficiency type cblG
  • c.502+19T>C Single submitter methylcobalamin deficiency type cblG
  • c.502+21_502+24dup Single submitter methylcobalamin deficiency type cblG

Uncertain significance 402

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

  • c.3205-196A>G Multiple submitters methylcobalamin deficiency type cblG
  • c.*5537T>C Multiple submitters Disorders of Intracellular Cobalamin Metabolism
  • p.Ala122Val Multiple submitters methylcobalamin deficiency type cblG
  • p.Ala205Val Multiple submitters Inborn genetic diseases
  • p.Ala442Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Ala678Ser Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Arg1029Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1094His Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Arg1144Gly Multiple submitters methylcobalamin deficiency type cblG
  • p.Arg1144Thr Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Arg1164Cys Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Arg1167Gln Multiple submitters Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Arg220Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg220Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg43Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg43Leu Multiple submitters methylcobalamin deficiency type cblG
  • p.Arg43Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg648His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg703Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Asn532Asp Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Asn706Ser Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Asp971Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Gln895Pro Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Gln941Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Glu672Lys Multiple submitters Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Gly109Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1257Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly528Ala Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Gly724Ala Multiple submitters Inborn genetic diseases ⚠
  • p.His1183Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His624Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ile804Thr Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Ile881del Multiple submitters neural tube defects, folate-sensitive
  • p.Lys1226Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys525Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Lys995Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Met1125Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met117Val Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Met119Val Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Met303Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met40Val Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Met594Val Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Phe363Leu Multiple submitters Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Phe431Val Multiple submitters Inborn genetic diseases ⚠
  • p.Pro148Leu Multiple submitters Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Pro301Ala Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Pro347Ser Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Pro749Ser Multiple submitters Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Pro953Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1155Gly Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Ser437Tyr Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Thr300Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr774Ile Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Thr954Met Multiple submitters Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Tyr1114Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr281Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr972Cys Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Val776Met Multiple submitters methylcobalamin deficiency type cblG ⚠
  • p.Val883Ile Multiple submitters methylcobalamin deficiency type cblG ⚠
  • c.1075+6T>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.1330-3C>G Single submitter
  • c.1695+6T>C Single submitter methylcobalamin deficiency type cblG
  • c.1953+3A>G Single submitter methylcobalamin deficiency type cblG
  • c.1954-6A>G Single submitter methylcobalamin deficiency type cblG
  • c.2044-1G>T Single submitter methylcobalamin deficiency type cblG
  • c.2196+5G>A Single submitter methylcobalamin deficiency type cblG
  • c.2304+3A>C Single submitter methylcobalamin deficiency type cblG
  • c.2304+4A>G Single submitter methylcobalamin deficiency type cblG
  • c.2474-3T>A Single submitter methylcobalamin deficiency type cblG
  • c.2594+1_2594+36dup Single submitter methylcobalamin deficiency type cblG
  • c.2594+3A>G Single submitter methylcobalamin deficiency type cblG
  • c.2594+5G>A Single submitter methylcobalamin deficiency type cblG
  • c.2775+4A>G Single submitter methylcobalamin deficiency type cblG
  • c.2852-3T>C Single submitter methylcobalamin deficiency type cblG
  • c.3008-3T>C Single submitter methylcobalamin deficiency type cblG
  • c.3205-9G>A Single submitter methylcobalamin deficiency type cblG
  • c.340-3T>C Single submitter methylcobalamin deficiency type cblG
  • c.35-20A>G Single submitter methylcobalamin deficiency type cblG
  • c.35-3A>C Single submitter methylcobalamin deficiency type cblG
  • c.409+7A>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.503-5del Single submitter
  • c.928-11C>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.-413C>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.-96C>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1004C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1022G>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*102G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1030A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1087G>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1098T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1105G>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1147T>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1150G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1252C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1401A>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1585C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1657C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*169C>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1709C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1732T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1785A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1786C>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1809C>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*1864T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*201T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*208C>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*2095G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*212C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*2197C>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*2276G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*2343A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*2364C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*2526G>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*2726A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*2773_*2774dup Single submitter
  • c.*2994A>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*314T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*3166C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*318T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*3226A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*3230G>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*3298G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*3320G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*3389A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*3428G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*3446G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*3554A>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*356G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*3660G>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*3677T>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*3808A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*3819A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*3823C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*3988G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*4039C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*4114A>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*4148A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*4292G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*4347A>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*4409G>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*4423C>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*4558A>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*4667C>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*467A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*4724G>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*4747G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*485G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*5112A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*5153T>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*5194AAAAC[5] Single submitter
  • c.*5204A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*5248A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*5255T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*5297T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*5344G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*5352C>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*5374C>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*56T>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*572C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*5884A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*5892A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*5956A>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*5977A>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*6081C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*6101A>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*6243A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*755T>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*760G>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*765T>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*813G>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*820A>G Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*826G>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*839T>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*841C>T Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*899G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*917G>A Single submitter Disorders of Intracellular Cobalamin Metabolism
  • c.*921A>C Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Ala1013Thr Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Ala1048Thr Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Ala1048Val Single submitter methylcobalamin deficiency type cblG
  • p.Ala1128Val Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Ala205Thr Single submitter Inborn genetic diseases
  • p.Ala381Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala392Thr Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Ala571Gly Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Ala60Gly Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Ala778Val Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Ala824= Single submitter methylcobalamin deficiency type cblG
  • p.Ala844Val Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Ala886Thr Single submitter ⚠
  • p.Arg1094Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg1132Gln Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Arg1165Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg1167Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg116Gln Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Arg1172Cys Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Arg1172Pro Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Arg19Trp Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Arg377Cys Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Arg518Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg585Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg648Cys Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Arg738Gln Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Arg802Gln Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Arg849Thr Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Arg936Thr Single submitter ⚠
  • p.Arg985Trp Single submitter methylcobalamin deficiency type cblG
  • p.Asn150= Single submitter Disorders of Intracellular Cobalamin Metabolism
  • p.Asn201Lys Single submitter ⚠
  • p.Asn211Ser Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asn23Ser Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asn287Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn340Lys Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asn373Lys Single submitter ⚠
  • p.Asn416Ser Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asn452Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn470Ser Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asn539Asp Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asn551Asp Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asn616Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn799Asp Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asp1011Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp1011Gly Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asp1043Asn Single submitter Inborn genetic diseases
  • p.Asp1084Gly Single submitter ⚠
  • p.Asp1084Tyr Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asp1095Asn Single submitter ⚠
  • p.Asp1120Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp1236Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp1240Tyr Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asp310Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp419Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp664Glu Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asp783Asn Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asp786Asn Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asp821Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp903Gly Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asp915Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp915Val Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Asp91His Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Cys255Tyr Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Cys631Ser Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Gln27Arg Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Gln405His Single submitter ⚠
  • p.Gln411Pro Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Gln42Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln629Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln651Arg Single submitter ⚠
  • p.Gln662His Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Gln772Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln959Glu Single submitter Inborn genetic diseases ⚠
  • p.Glu1108Lys Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Glu1139Gly Single submitter ⚠
  • p.Glu1148Val Single submitter ⚠
  • p.Glu1239Asp Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Glu130Lys Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Glu21Asp Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Glu252Gly Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Glu502Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu503del Single submitter methylcobalamin deficiency type cblG
  • p.Glu508Gln Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Glu55Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu644Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu766Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu767Gln Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Gly1098Cys Single submitter ⚠
  • p.Gly1154Ser Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Gly187Glu Single submitter ⚠
  • p.Gly238Arg Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Gly353Ala Single submitter ⚠
  • p.Gly359= Single submitter methylcobalamin deficiency type cblG
  • p.Gly424Asp Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Gly465Glu Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Gly477Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly657Arg Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Gly65Asp Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Gly682Asp Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Gly763Asp Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Gly763Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly986Ala Single submitter Inborn genetic diseases ⚠
  • p.His1014Tyr Single submitter Inborn genetic diseases ⚠
  • p.His1090Arg Single submitter methylcobalamin deficiency type cblG ⚠
  • p.His112Pro Single submitter ⚠
  • p.His1142Tyr Single submitter methylcobalamin deficiency type cblG ⚠
  • p.His785Asn Single submitter ⚠
  • p.Ile103Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile1059Val Single submitter Disorders of Intracellular Cobalamin Metabolism ⚠
  • p.Ile1247Val Single submitter Inborn genetic diseases ⚠
  • p.Ile190Val Single submitter Inborn genetic diseases ⚠
  • p.Ile196Val Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Ile274Thr Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Ile374Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile707Val Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Ile72Val Single submitter ⚠
  • p.Ile734Val Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Ile748Val Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Ile956Val Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Leu1026Pro Single submitter methylcobalamin deficiency type cblG ⚠
  • p.Leu1187Pro Single submitter
  • p.Leu183Val Single submitter ⚠