Total 94 pathogenic variants reported for Transcobalamin II deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000355.4(TCN2):c.427+2T>G SNV
Germline		 Chr22:30613044 Pathogenic Transcobalamin II deficiency No Assertion Criteria Provided
 CA113852 rs_606231119

1 SubmittersRCV000000118
NM_000355.4(TCN2):c.581-176A>T SNV
Germline		 Chr22:30615125 Pathogenic Transcobalamin II deficiency No Assertion Criteria Provided
 CA212722 rs_372866837

1 SubmittersRCV000000120
NM_000355.4(TCN2):c.810G>T (p.Ala270=) SNV
Germline		 Chr22:30615657 Conflicting classifications of pathogenicity Transcobalamin II deficiency Criteria Provided
Conflicting Classifications
 CA10184856 rs_61748898

2 SubmittersRCV000282541
NM_000355.4(TCN2):c.921A>C (p.Pro307=) SNV
Germline		 Chr22:30615768 Conflicting classifications of pathogenicity Transcobalamin II deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10184884 rs_138738105

6 SubmittersRCV000351982RCV000756755
NM_000355.4(TCN2):c.428-4T>C SNV
Germline		 Chr22:30614345 Conflicting classifications of pathogenicity Transcobalamin II deficiency
TCN2-related disorder		 Criteria Provided
Conflicting Classifications
 CA10184666 rs_201408393

4 SubmittersRCV000272121RCV003957761
NM_000355.4(TCN2):c.1017C>G (p.Leu339=) SNV
Germline		 Chr22:30617406 Conflicting classifications of pathogenicity Transcobalamin II deficiency Criteria Provided
Conflicting Classifications
 CA10184932 rs_35997415

2 SubmittersRCV000345945
NM_000355.4(TCN2):c.1092G>A (p.Glu364=) SNV
Germline		 Chr22:30617481 Conflicting classifications of pathogenicity Transcobalamin II deficiency Criteria Provided
Conflicting Classifications
 CA10653353 rs_886057397

2 SubmittersRCV000266712
NM_000355.4(TCN2):c.138C>T (p.Ser46=) SNV
Germline		 Chr22:30610944 Conflicting classifications of pathogenicity Transcobalamin II deficiency Criteria Provided
Conflicting Classifications
 CA10184497 rs_143250551

3 SubmittersRCV000311007
NM_000355.4(TCN2):c.459C>T (p.Ser153=) SNV
Germline		 Chr22:30614380 Conflicting classifications of pathogenicity Transcobalamin II deficiency Criteria Provided
Conflicting Classifications
 CA10184671 rs_201344377

2 SubmittersRCV000310871
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu) SNV
Germline		 Chr22:30614475 Conflicting classifications of pathogenicity Transcobalamin II deficiency
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10184699 rs_146009793

4 SubmittersRCV000323191RCV004703871RCV006386813
NM_000355.4(TCN2):c.644G>A (p.Arg215Gln) SNV
Germline		 Chr22:30615364 Conflicting classifications of pathogenicity Transcobalamin II deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10184764 rs_760721315

3 SubmittersRCV000317458RCV006386814
NM_000355.4(TCN2):c.903C>T (p.Tyr301=) SNV
Germline		 Chr22:30615750 Conflicting classifications of pathogenicity Transcobalamin II deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10184878 rs_146036025

4 SubmittersRCV000294735RCV002512075
NM_000355.4(TCN2):c.1099G>T (p.Gly367Ter) SNV
Germline		 Chr22:30617488 Pathogenic/Likely pathogenic Condition: not provided
Transcobalamin II deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603221 rs_1057520098

2 SubmittersRCV000434122RCV003766185
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) SNV
Germline		 Chr22:30614483 Pathogenic/Likely pathogenic Condition: not provided
Inborn genetic diseases
Transcobalamin II deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA411211030 rs_1456983114

3 SubmittersRCV000505958RCV000622503RCV000779371
NM_000355.4(TCN2):c.810G>A (p.Ala270=) SNV
Germline		 Chr22:30615657 Conflicting classifications of pathogenicity Transcobalamin II deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10184855 rs_61748898

3 SubmittersRCV000548306RCV003424099
NM_000355.4(TCN2):c.871C>T (p.Gln291Ter) SNV
Germline		 Chr22:30615718 Pathogenic Condition: not provided
Transcobalamin II deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA411213510 rs_1461973241

2 SubmittersRCV000579082RCV005056230
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) SNV
Germline		 Chr22:30612911 Conflicting classifications of pathogenicity Transcobalamin II deficiency
Condition: not provided
TCN2-related disorder		 Criteria Provided
Conflicting Classifications
 CA10184575 rs_150225103

5 SubmittersRCV000635260RCV001771857RCV004754514
NM_000355.4(TCN2):c.523G>A (p.Val175Met) SNV
Germline		 Chr22:30614444 Conflicting classifications of pathogenicity Transcobalamin II deficiency
TCN2-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10184691 rs_142791153

5 SubmittersRCV000635264RCV003965329RCV005502855
NM_000355.4(TCN2):c.581-8A>G SNV
Germline		 Chr22:30615293 Conflicting classifications of pathogenicity Transcobalamin II deficiency Criteria Provided
Conflicting Classifications
 CA10184742 rs_7290898

3 SubmittersRCV000635259
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly) SNV
Germline		 Chr22:30626474 Conflicting classifications of pathogenicity Transcobalamin II deficiency
Condition: not provided
TCN2-related disorder		 Criteria Provided
Conflicting Classifications
 CA10185067 rs_148963479

6 SubmittersRCV000635256RCV003424207RCV003928068
NM_000355.4(TCN2):c.522C>T (p.Ser174=) SNV
Germline		 Chr22:30614443 Conflicting classifications of pathogenicity Transcobalamin II deficiency Criteria Provided
Conflicting Classifications
 CA10184690 rs_537115632

2 SubmittersRCV000960584
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln) SNV
Germline		 Chr22:30615631 Conflicting classifications of pathogenicity Transcobalamin II deficiency Criteria Provided
Conflicting Classifications
 CA10184850 rs_61743653

2 SubmittersRCV000974728
NM_000355.4(TCN2):c.882C>T (p.Pro294=) SNV
Germline		 Chr22:30615729 Conflicting classifications of pathogenicity Transcobalamin II deficiency Criteria Provided
Conflicting Classifications
 CA10184869 rs_142689742

2 SubmittersRCV000934025
NM_000355.4(TCN2):c.547G>A (p.Val183Met) SNV
Germline		 Chr22:30614468 Conflicting classifications of pathogenicity Transcobalamin II deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10184697 rs_201925682

3 SubmittersRCV000978137RCV005492912
NM_000355.4(TCN2):c.855T>A (p.Asn285Lys) SNV
Germline		 Chr22:30615702 Conflicting classifications of pathogenicity Transcobalamin II deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10184860 rs_376839271

2 SubmittersRCV001065072RCV004809014
NM_000355.4(TCN2):c.1022C>T (p.Pro341Leu) SNV
Germline		 Chr22:30617411 Conflicting classifications of pathogenicity Transcobalamin II deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA323235155 rs_1017195499

2 SubmittersRCV001048694RCV004031524
NM_000355.4(TCN2):c.1117C>T (p.Gln373Ter) SNV
Germline		 Chr22:30622978 Pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter
 CA411216604 rs_1279321570

1 SubmittersRCV001070249
NM_000355.4(TCN2):c.428-2A>G SNV
Germline		 Chr22:30614347 Pathogenic/Likely pathogenic Transcobalamin II deficiency
Condition: not provided
Pancytopenia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA411210436 rs_2087581122

3 SubmittersRCV001212472RCV001587229RCV001730751
NM_000355.4(TCN2):c.1089T>G (p.His363Gln) SNV
Germline		 Chr22:30617478 Conflicting classifications of pathogenicity Transcobalamin II deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10184957 rs_772074405

2 SubmittersRCV001304192RCV005749779
NM_000355.4(TCN2):c.424A>G (p.Ile142Val) SNV
Germline		 Chr22:30613039 Conflicting classifications of pathogenicity Transcobalamin II deficiency Criteria Provided
Conflicting Classifications
 CA10184618 rs_200771616

2 SubmittersRCV001331168
NM_000355.4(TCN2):c.448C>G (p.Pro150Ala) SNV
Germline		 Chr22:30614369 Conflicting classifications of pathogenicity Transcobalamin II deficiency Criteria Provided
Conflicting Classifications
 CA10184669 rs_776493564

2 SubmittersRCV001348701
NM_000355.4(TCN2):c.1003C>T (p.Gln335Ter) SNV
Germline		 Chr22:30617392 Pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter
 CA411215319 rs_771755125

1 SubmittersRCV001806355
NM_000355.4(TCN2):c.756C>G (p.Phe252Leu) SNV
Germline		 Chr22:30615603 Conflicting classifications of pathogenicity Transcobalamin II deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10184841 rs_142553702

2 SubmittersRCV002045336RCV005281087
NM_000355.4(TCN2):c.1106+1G>A SNV
Germline		 Chr22:30617496 Pathogenic Transcobalamin II deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA10184960 rs_766478911

2 SubmittersRCV001863330
NM_000355.4(TCN2):c.937C>T (p.Arg313Ter) SNV
Germline		 Chr22:30615784 Pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter
 CA10184887 rs_747257199

1 SubmittersRCV003064652
NM_000355.4(TCN2):c.19T>C (p.Phe7Leu) SNV
Germline		 Chr22:30607350 Conflicting classifications of pathogenicity Transcobalamin II deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA411204672 rs_2517894740

2 SubmittersRCV002829038RCV004673724
NM_000355.4(TCN2):c.941-2A>G SNV
Germline		 Chr22:30617328 Likely pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter
 CA411215018 rs_2517912354

1 SubmittersRCV003496937
NM_000355.4(TCN2):c.324C>A (p.Tyr108Ter) SNV
Germline		 Chr22:30612939 Pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter
 CA411208493 rs_779779694

1 SubmittersRCV003497066
NM_000355.4(TCN2):c.580+1G>C SNV
Germline		 Chr22:30614502 Likely pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter
 CA411211103 rs_1166150272

1 SubmittersRCV003494766
NM_000355.4(TCN2):c.679C>T (p.Arg227Ter) SNV
Germline		 Chr22:30615399 Pathogenic/Likely pathogenic Transcobalamin II deficiency
TCN2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA411212550 rs_1198019350

3 SubmittersRCV003494767RCV003909040
NM_000355.4(TCN2):c.1090G>T (p.Glu364Ter) SNV
Germline		 Chr22:30617479 Pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter
 CA411215792 rs_2087630072

1 SubmittersRCV003599017
NM_000355.4(TCN2):c.258-1G>A SNV
Germline		 Chr22:30612872 Likely pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter
 CA411207849 rs_1387442810

1 SubmittersRCV003597750
NM_000355.4(TCN2):c.466C>T (p.Gln156Ter) SNV
Germline		 Chr22:30614387 Pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter
 CA411210626 rs_2087582545

1 SubmittersRCV003597933
NM_000355.4(TCN2):c.324C>G (p.Tyr108Ter) SNV
Germline		 Chr22:30612939 Pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter
 CA411208494 rs_779779694

1 SubmittersRCV003598498
NM_000355.4(TCN2):c.1033C>T (p.Gln345Ter) SNV
Germline		 Chr22:30617422 Pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter
 CA10184937 rs_769078432

1 SubmittersRCV003843073
NM_000355.4(TCN2):c.3G>A (p.Met1Ile) SNV
Germline		 Chr22:30607334 Pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter

1 SubmittersRCV004821033
NM_000355.4(TCN2):c.1195C>T (p.Arg399Ter) SNV
Germline		 Chr22:30623056 Likely pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005029287
NM_000355.4(TCN2):c.271G>T (p.Glu91Ter) SNV
Germline		 Chr22:30612886 Pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005071220
NM_000355.4(TCN2):c.581-1G>A SNV
Germline		 Chr22:30615300 Likely pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005117265
NM_000355.4(TCN2):c.116T>G (p.Leu39Ter) SNV
Germline		 Chr22:30610922 Pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005141187
NM_000355.4(TCN2):c.244C>T (p.Gln82Ter) SNV
Germline		 Chr22:30611050 Pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006516311
NM_000355.4(TCN2):c.258-1G>T SNV
Germline		 Chr22:30612872 Likely pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006586569
NM_000355.4(TCN2):c.1110T>A (p.Tyr370Ter) SNV
Germline		 Chr22:30622971 Pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006619474
NM_000355.4(TCN2):c.754-1G>T SNV
Germline		 Chr22:30615600 Likely pathogenic Transcobalamin II deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006624288