Total 130 pathogenic variants reported for Methylmalonic aciduria, cblB type 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) SNV
Germline		 Chr12:109561068 Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type
Condition: not provided
Methylmalonic acidemia
MMAB-related disorder
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA312714 rs_28941784

19 SubmittersRCV000003241RCV000186017RCV000296390RCV003398428RCV002512694
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) SNV
Germline		 Chr12:109561056 Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA223862 rs_398124434

8 SubmittersRCV000203347RCV000790778
NM_052845.4(MMAB):c.519+10G>A SNV
Germline		 Chr12:109561410 Conflicting classifications of pathogenicity Condition: not provided
Methylmalonic aciduria, cblB type		 Criteria Provided
Conflicting Classifications
 CA246833 rs_771725706

2 SubmittersRCV000179548RCV001081293
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) SNV
Germline		 Chr12:109557081 Pathogenic Methylmalonic aciduria, cblB type
Condition: not provided
Methylmalonic acidemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA312718 rs_369296618

10 SubmittersRCV000190603RCV000420410RCV000780427
NM_052845.4(MMAB):c.569G>A (p.Arg190His) SNV
Germline		 Chr12:109561055 Pathogenic Condition: not provided
Methylmalonic aciduria, cblB type
Methylmalonic acidemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA312716 rs_756414548

7 SubmittersRCV000186018RCV000203392RCV001420745
NM_052845.4(MMAB):c.584G>A (p.Arg195His) SNV
Germline		 Chr12:109561040 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
Methylmalonic acidemia
Familial prostate cancer		 Criteria Provided
Conflicting Classifications
 CA278556 rs_756195708

6 SubmittersRCV000202574RCV000780426RCV005893617
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr) SNV
Germline		 Chr12:109568773 Pathogenic Methylmalonic aciduria, cblB type No Assertion Criteria Provided
 CA347809 rs_864309509

2 SubmittersRCV000202588
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) SNV
Germline		 Chr12:109561053 Pathogenic Methylmalonic aciduria, cblB type
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347810 rs_376128990

14 SubmittersRCV000202597RCV000414492RCV002515492
NM_052845.4(MMAB):c.349-1G>C SNV
Germline		 Chr12:109561853 Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA278558 rs_864309510

5 SubmittersRCV000202577RCV004812307
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu) SNV
Germline		 Chr12:109568770 Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Multiple Submitters
No Conflicts
 CA278561 rs_864309511

4 SubmittersRCV000202589
NM_052845.4(MMAB):c.548A>T (p.His183Leu) SNV
Germline		 Chr12:109561076 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
not specified		 Criteria Provided
Conflicting Classifications
 CA278559 rs_752866643

7 SubmittersRCV000202581RCV001804941
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) SNV
Germline		 Chr12:109557125 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA347903 rs_765547005

6 SubmittersRCV000203386RCV000424166RCV002509300
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) SNV
Germline		 Chr12:109561052 Pathogenic Methylmalonic aciduria, cblB type
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347882 rs_746219370

6 SubmittersRCV000203356RCV002517365RCV002281067
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) SNV
Germline		 Chr12:109561798 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
Condition: not provided
not specified
MMAB-related disorder		 Criteria Provided
Conflicting Classifications
 CA347906 rs_35648932

7 SubmittersRCV000203394RCV000482151RCV002271462RCV003967547
NM_052845.4(MMAB):c.291-1G>A SNV
Germline		 Chr12:109565177 Pathogenic Methylmalonic aciduria, cblB type
Condition: not provided
Methylmalonic acidemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347875 rs_199971687

12 SubmittersRCV000203348RCV000727663RCV001194232
NM_052845.4(MMAB):c.197-1G>T SNV
Germline		 Chr12:109568864 Pathogenic Methylmalonic aciduria, cblB type
Methylmalonic acidemia
Methylmalonic aciduria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347865 rs_763935916

14 SubmittersRCV000203326RCV000590462RCV004798809
NM_052845.4(MMAB):c.563T>G (p.Val188Gly) SNV
Germline		 Chr12:109561061 Pathogenic Methylmalonic aciduria, cblB type No Assertion Criteria Provided
 CA358789 rs_869320654

1 SubmittersRCV000210838
NM_052845.4(MMAB):c.2T>C (p.Met1Thr) SNV
Germline		 Chr12:109573479 Pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA358800 rs_869320655

2 SubmittersRCV000210846
NM_052845.4(MMAB):c.333C>T (p.Ala111=) SNV
Germline		 Chr12:109565134 Conflicting classifications of pathogenicity not specified
Methylmalonic aciduria, cblB type		 Criteria Provided
Conflicting Classifications
 CA6778958 rs_769385276

3 SubmittersRCV000244814RCV000876753
NM_052845.4(MMAB):c.625G>A (p.Val209Met) SNV
Germline		 Chr12:109559115 Pathogenic/Likely pathogenic Condition: not provided
Methylmalonic aciduria, cblB type
Methylmalonic acidemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10604766 rs_200903284

6 SubmittersRCV000277473RCV001211421RCV006456931
NM_052845.4(MMAB):c.444G>A (p.Gly148=) SNV
Germline		 Chr12:109561495 Conflicting classifications of pathogenicity not specified
Condition: not provided
Methylmalonic aciduria, cblB type		 Criteria Provided
Conflicting Classifications
 CA6778896 rs_117269384

5 SubmittersRCV000385100RCV000726068RCV001079264
NM_052845.4(MMAB):c.732G>A (p.Ser244=) SNV
Germline		 Chr12:109557049 Conflicting classifications of pathogenicity not specified
Methylmalonic aciduria, cblB type
MMAB-related disorder		 Criteria Provided
Conflicting Classifications
 CA6778749 rs_186864802

5 SubmittersRCV000443067RCV000872449RCV003930298
NM_052845.4(MMAB):c.561C>T (p.Ala187=) SNV
Germline		 Chr12:109561063 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type Criteria Provided
Conflicting Classifications
 CA6778829 rs_370773720

4 SubmittersRCV000969362
NM_052845.4(MMAB):c.644+7G>A SNV
Germline		 Chr12:109559089 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
MMAB-related disorder		 Criteria Provided
Conflicting Classifications
 CA6778786 rs_147637814

3 SubmittersRCV000872126RCV003897700
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) SNV
Germline		 Chr12:109557103 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
MMAB-related disorder		 Criteria Provided
Conflicting Classifications
 CA6778762 rs_111678627

3 SubmittersRCV000384506RCV003977893
NM_052845.4(MMAB):c.-4G>C SNV
Germline		 Chr12:109573484 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6779094 rs_372195202

3 SubmittersRCV000335052RCV001612972
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) SNV
Germline		 Chr12:109561807 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6778924 rs_147457956

7 SubmittersRCV000824472RCV001703464RCV002524773
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu) SNV
Germline		 Chr12:109561824 Conflicting classifications of pathogenicity Condition: not provided
Methylmalonic aciduria, cblB type		 Criteria Provided
Conflicting Classifications
 CA6778929 rs_771053425

3 SubmittersRCV000498258RCV000673685
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) SNV
Germline		 Chr12:109559120 Conflicting classifications of pathogenicity Condition: not provided
Methylmalonic aciduria, cblB type
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6778791 rs_61739388

5 SubmittersRCV000513550RCV000814646RCV002527401
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) SNV
Germline		 Chr12:109561103 Conflicting classifications of pathogenicity Condition: not provided
Methylmalonic aciduria, cblB type
MMAB-related disorder		 Criteria Provided
Conflicting Classifications
 CA6778842 rs_140881518

8 SubmittersRCV000514970RCV000671507RCV004752925
NM_052845.4(MMAB):c.584+15G>A SNV
Germline		 Chr12:109561025 Conflicting classifications of pathogenicity not specified
Methylmalonic aciduria, cblB type		 Criteria Provided
Conflicting Classifications
 CA6778818 rs_750655720

3 SubmittersRCV000613917RCV001110622
NM_052845.4(MMAB):c.387G>A (p.Ala129=) SNV
Germline		 Chr12:109561814 Conflicting classifications of pathogenicity not specified
Methylmalonic aciduria, cblB type		 Criteria Provided
Conflicting Classifications
 CA6778925 rs_549807022

3 SubmittersRCV000599646RCV000924416
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln) SNV
Germline		 Chr12:109561047 Likely pathogenic Methylmalonic aciduria, cblB type No Assertion Criteria Provided
 CA386636823 rs_749758687

1 SubmittersRCV000625542
NM_052845.4(MMAB):c.585-2A>C SNV
Germline		 Chr12:109559157 Pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386636314 rs_1555274254

2 SubmittersRCV000665914
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) SNV
Germline		 Chr12:109561067 Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type
Methylmalonic acidemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6778832 rs_773059864

5 SubmittersRCV000667435RCV004017714
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) SNV
Germline		 Chr12:109561803 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type Criteria Provided
Conflicting Classifications
 CA6778922 rs_749936057

5 SubmittersRCV000668683
NM_052845.4(MMAB):c.562G>A (p.Val188Met) SNV
Germline		 Chr12:109561062 Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Multiple Submitters
No Conflicts
 CA6778828 rs_768176676

7 SubmittersRCV000666491
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) SNV
Germline		 Chr12:109561485 Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type
Methylmalonic acidemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA386637472 rs_557884699

5 SubmittersRCV000666211RCV001194231
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) SNV
Germline		 Chr12:109561047 Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Multiple Submitters
No Conflicts
 CA6778824 rs_749758687

4 SubmittersRCV000669558
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) SNV
Germline		 Chr12:109573469 Pathogenic Methylmalonic aciduria, cblB type
Condition: not provided
Methylmalonic acidemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA386641620 rs_1481415459

7 SubmittersRCV000665638RCV001576371RCV005240422
NM_052845.4(MMAB):c.644+1G>A SNV
Germline		 Chr12:109559095 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386636041 rs_1592996077

1 SubmittersRCV000809713
NM_052845.4(MMAB):c.519+1G>A SNV
Germline		 Chr12:109561419 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386637167 rs_1592998207

2 SubmittersRCV000799238
NM_052845.4(MMAB):c.150G>A (p.Ser50=) SNV
Germline		 Chr12:109571695 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
MMAB-related disorder		 Criteria Provided
Conflicting Classifications
 CA6779031 rs_754357121

4 SubmittersRCV000877707RCV003948259
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) SNV
Germline		 Chr12:109573471 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
MMAB-related disorder		 Criteria Provided
Conflicting Classifications
 CA6779089 rs_146668962

4 SubmittersRCV000883287RCV003910420
NM_052845.4(MMAB):c.99G>A (p.Gln33=) SNV
Germline		 Chr12:109573382 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
Condition: not provided
MMAB-related disorder		 Criteria Provided
Conflicting Classifications
 CA6779063 rs_749127574

4 SubmittersRCV001274953RCV003332273RCV003895724
NM_052845.4(MMAB):c.522G>A (p.Ser174=) SNV
Germline		 Chr12:109561102 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
Malignant tumor of esophagus		 Criteria Provided
Conflicting Classifications
 CA6778841 rs_545625368

4 SubmittersRCV000983917RCV005912102
NM_052845.4(MMAB):c.468G>A (p.Trp156Ter) SNV
Germline		 Chr12:109561471 Pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386637408 rs_1884201610

1 SubmittersRCV001035736
NM_052845.4(MMAB):c.1A>C (p.Met1Leu) SNV
Germline		 Chr12:109573480 Pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386641683 rs_1884749143

1 SubmittersRCV001067639
NM_052845.4(MMAB):c.290+1G>A SNV
Germline		 Chr12:109568769 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Multiple Submitters
No Conflicts
 CA386639405 rs_1351673148

2 SubmittersRCV001241506
NM_052845.4(MMAB):c.665C>T (p.Thr222Met) SNV
Germline		 Chr12:109557116 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6778765 rs_142070439

4 SubmittersRCV001279871RCV001357401RCV005601730
NM_052845.4(MMAB):c.2T>G (p.Met1Arg) SNV
Germline		 Chr12:109573479 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386641676 rs_869320655

2 SubmittersRCV001377746
NM_052845.4(MMAB):c.220G>T (p.Glu74Ter) SNV
Germline		 Chr12:109568840 Pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Multiple Submitters
No Conflicts
 CA386639750 rs_2136208377

3 SubmittersRCV001380085
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys) SNV
Germline		 Chr12:109573390 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
not specified		 Criteria Provided
Conflicting Classifications
 CA6779064 rs_142447736

3 SubmittersRCV001456833RCV006266796
NM_052845.4(MMAB):c.650G>T (p.Ser217Ile) SNV
Germline		 Chr12:109557131 Pathogenic Methylmalonic aciduria, cblB type No Assertion Criteria Provided
 CA386635775 rs_2136192612

1 SubmittersRCV001527456
NM_052845.4(MMAB):c.487C>T (p.Gln163Ter) SNV
Germline		 Chr12:109561452 Pathogenic Methylmalonic aciduria, cblB type No Assertion Criteria Provided
 CA386637309 rs_2136199221

1 SubmittersRCV001527452
NM_052845.4(MMAB):c.462G>T (p.Glu154Asp) SNV
Germline		 Chr12:109561477 Pathogenic Methylmalonic aciduria, cblB type No Assertion Criteria Provided
 CA386637438 rs_1392513631

1 SubmittersRCV001527451
NM_052845.4(MMAB):c.422-1G>C SNV
Germline		 Chr12:109561518 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386637611 rs_2136199436

2 SubmittersRCV001527450
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp) SNV
Germline		 Chr12:109561821 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA6778927 rs_778169806

2 SubmittersRCV001527449
NM_052845.4(MMAB):c.291-1G>T SNV
Germline		 Chr12:109565177 Pathogenic Methylmalonic aciduria, cblB type No Assertion Criteria Provided
 CA386638698 rs_199971687

1 SubmittersRCV001527446
NM_052845.4(MMAB):c.135-1G>A SNV
Germline		 Chr12:109571711 Pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386640547 rs_1566137903

2 SubmittersRCV001527445
NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter) SNV
Germline		 Chr12:109573394 Pathogenic Methylmalonic aciduria, cblB type No Assertion Criteria Provided
 CA386641296 rs_2136213423

1 SubmittersRCV001527444
NM_052845.4(MMAB):c.580A>G (p.Arg194Gly) SNV
Germline		 Chr12:109561044 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386636808 rs_2136198139

1 SubmittersRCV001806320
NM_052845.4(MMAB):c.467G>A (p.Trp156Ter) SNV
Germline		 Chr12:109561472 Pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386637414 rs_2136199270

1 SubmittersRCV001897087
NM_052845.4(MMAB):c.523G>T (p.Gly175Ter) SNV
Germline		 Chr12:109561101 Pathogenic Methylmalonic aciduria, cblB type
MMAB-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6778840 rs_758790126

2 SubmittersRCV002007211RCV003401960
NM_052845.4(MMAB):c.638T>G (p.Leu213Ter) SNV
Germline		 Chr12:109559102 Pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386636074 rs_2136195113

1 SubmittersRCV001941853
NM_052845.4(MMAB):c.197-1G>A SNV
Germline		 Chr12:109568864 Pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386639885 rs_763935916

1 SubmittersRCV001960672
NM_052845.4(MMAB):c.421+1G>A SNV
Germline		 Chr12:109561779 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386637621 rs_2136199734

1 SubmittersRCV002012364
NM_052845.4(MMAB):c.460G>T (p.Glu154Ter) SNV
Germline		 Chr12:109561479 Pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386637445 rs_2136199292

1 SubmittersRCV001939364
NM_052845.4(MMAB):c.52C>A (p.Leu18Met) SNV
Germline		 Chr12:109573429 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6779079 rs_374802787

2 SubmittersRCV002122178RCV005601872
NM_052845.4(MMAB):c.134+2T>A SNV
Germline		 Chr12:109573345 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386641095 rs_1593008134

1 SubmittersRCV002876177
NM_052845.4(MMAB):c.572G>C (p.Arg191Pro) SNV
Germline		 Chr12:109561052 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386636835 rs_746219370

1 SubmittersRCV003227567
NM_052845.4(MMAB):c.112C>T (p.Gln38Ter) SNV
Unknown		 Chr12:109573369 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386641198 rs_2548614137

1 SubmittersRCV003461862
NM_052845.4(MMAB):c.539C>A (p.Ser180Ter) SNV
Unknown		 Chr12:109561085 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386637012 rs_368584846

1 SubmittersRCV003461864
NM_052845.4(MMAB):c.63C>A (p.Cys21Ter) SNV
Germline		 Chr12:109573418 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Multiple Submitters
No Conflicts
 CA386641394 rs_376611965

2 SubmittersRCV003470143
NM_052845.4(MMAB):c.571C>G (p.Arg191Gly) SNV
Germline		 Chr12:109561053 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386636840 rs_376128990

1 SubmittersRCV003482196
NM_052845.4(MMAB):c.134+1G>T SNV
Germline		 Chr12:109573346 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386641098 rs_2548614097

1 SubmittersRCV003501379
NM_052845.4(MMAB):c.334G>T (p.Glu112Ter) SNV
Germline		 Chr12:109565133 Pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386638601 rs_376219481

1 SubmittersRCV003501721
NM_052845.4(MMAB):c.139C>T (p.Gln47Ter) SNV
Germline		 Chr12:109571706 Pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Multiple Submitters
No Conflicts
 CA386640512 rs_1884632948

2 SubmittersRCV003502005
NM_052845.4(MMAB):c.2T>A (p.Met1Lys) SNV
Germline		 Chr12:109573479 Pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386641680 rs_869320655

1 SubmittersRCV003500093
NM_052845.4(MMAB):c.422-1G>A SNV
Germline		 Chr12:109561518 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386637612 rs_2136199436

1 SubmittersRCV003500120
NM_052845.4(MMAB):c.357C>A (p.Cys119Ter) SNV
Germline		 Chr12:109561844 Pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386637748 rs_2548605435

1 SubmittersRCV003607680
NM_052845.4(MMAB):c.463C>T (p.Gln155Ter) SNV
Germline		 Chr12:109561476 Pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 CA386637436 rs_2548604750

1 SubmittersRCV003608428
NM_052845.4(MMAB):c.585-16T>A SNV
Germline		 Chr12:109559171 Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type Criteria Provided
Conflicting Classifications
 CA951700769 rs_1884100386

2 SubmittersRCV003608524
NM_052845.4(MMAB):c.557G>C (p.Arg186Pro) SNV
Germline		 Chr12:109561067 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Multiple Submitters
No Conflicts
 CA386636903 rs_773059864

2 SubmittersRCV003815824
NM_052845.4(MMAB):c.197-2A>G SNV
Unknown		 Chr12:109568865 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 rs_2084305079

1 SubmittersRCV004576190
NM_052845.4(MMAB):c.584+2T>A SNV
Unknown		 Chr12:109561038 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter
 rs_2548603971

1 SubmittersRCV004574884
NM_052845.4(MMAB):c.584+2T>C SNV
Germline		 Chr12:109561038 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004797312
NM_052845.4(MMAB):c.691G>T (p.Glu231Ter) SNV
Germline		 Chr12:109557090 Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005004788
NM_052845.4(MMAB):c.577G>T (p.Glu193Ter) SNV
Germline		 Chr12:109561047 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter

1 SubmittersRCV005006777
NM_052845.4(MMAB):c.196+1G>T SNV
Unknown		 Chr12:109571648 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter

1 SubmittersRCV005637744
NM_052845.4(MMAB):c.519+1G>C SNV
Germline		 Chr12:109561419 Likely pathogenic Methylmalonic aciduria, cblB type Criteria Provided
Single Submitter

1 SubmittersRCV005885929