Total 585 pathogenic variants reported for Propionic acidemia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) SNV
Germline
Chr3:136327184 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA343136 rs_121964959

8 SubmittersRCV000012791

NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) SNV
Germline
Chr3:136262024 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA341173 rs_121964960

9 SubmittersRCV000012795

NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) SNV
Germline
Chr3:136327239 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA341174 rs_111033542

9 SubmittersRCV000012796

NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) SNV
Germline
Chr3:136327638 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA341178 rs_121964961

10 SubmittersRCV000012798

NM_000532.5(PCCB):c.654+462A>G SNV
Germline
Chr3:136284409 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1576327011

4 SubmittersRCV000012799

NM_000282.4(PCCA):c.862A>T (p.Arg288Ter) SNV
Germline
Chr13:100268731 Pathogenic Propionic acidemia No Assertion Criteria Provided
CA278124 rs_121964957

1 SubmittersRCV000012803

NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) SNV
Germline
Chr13:100301512 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA278126 rs_121964958

4 SubmittersRCV000012804

NM_000282.4(PCCA):c.1285-1416A>G SNV
Germline
Chr13:100305776 Pathogenic Propionic acidemia No Assertion Criteria Provided
rs_1362195093

1 SubmittersRCV000012805

NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) SNV
Germline
Chr13:100368479 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA292687 rs_61749895

9 SubmittersRCV000032108RCV000127322RCV002262596

NM_000282.4(PCCA):c.412G>A (p.Ala138Thr) SNV
Germline
Chr13:100155090 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA343123 rs_202247814

4 SubmittersRCV000032110

NM_000282.4(PCCA):c.491T>C (p.Ile164Thr) SNV
Germline
Chr13:100209354 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA343124 rs_202247815

3 SubmittersRCV000032111

NM_000282.4(PCCA):c.862A>G (p.Arg288Gly) SNV
Germline
Chr13:100268731 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA343125 rs_121964957

4 SubmittersRCV000032112

NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) SNV
Germline
Chr13:100273218 Pathogenic Propionic acidemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA220602 rs_138149179

12 SubmittersRCV000032113RCV000790683

NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) SNV
Germline
Chr3:136328854 Pathogenic Propionic acidemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA343138 rs_202247820

8 SubmittersRCV000032127RCV001090670

NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) SNV
Germline
Chr3:136329940 Pathogenic Propionic acidemia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA343140 rs_186710233

8 SubmittersRCV000032128RCV001090671RCV002513291

NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro) SNV
Germline
Chr3:136329962 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA343141 rs_202247822

4 SubmittersRCV000032129

NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) SNV
Germline
Chr3:136330012 Pathogenic Propionic acidemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA221097 rs_202247823

9 SubmittersRCV000032130RCV000790698

NM_000532.5(PCCB):c.335G>A (p.Gly112Asp) SNV
Germline
Chr3:136256586 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA343144 rs_202247818

2 SubmittersRCV000032132

NM_000532.5(PCCB):c.457G>C (p.Ala153Pro) SNV
Germline
Chr3:136261979 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA343145 rs_202247819

3 SubmittersRCV000032133

NM_000282.4(PCCA):c.300+20G>T SNV
Germline
Chr13:100112081 Conflicting classifications of pathogenicity Condition: not provided
Propionic acidemia
Criteria Provided
Conflicting Classifications
CA220601 rs_371217257

3 SubmittersRCV000078550RCV000669365

NM_000532.5(PCCB):c.183+1G>A SNV
Germline
Chr3:136250559 Pathogenic/Likely pathogenic Condition: not provided
Propionic acidemia
Criteria Provided
Multiple Submitters
No Conflicts
CA221098 rs_398123460

2 SubmittersRCV000173154RCV002515758

NM_000532.5(PCCB):c.183+3G>C SNV
Germline
Chr3:136250561 Conflicting classifications of pathogenicity Condition: not provided
Propionic acidemia
PCCB-related disorder
Criteria Provided
Conflicting Classifications
CA221099 rs_398123461

6 SubmittersRCV000079092RCV002281914RCV003415845

NM_000532.5(PCCB):c.3G>A (p.Met1Ile) SNV
Germline
Chr3:136250378 Pathogenic Condition: not provided
Propionic acidemia
Criteria Provided
Multiple Submitters
No Conflicts
CA221103 rs_398123464

2 SubmittersRCV000173153RCV001203595

NM_000532.5(PCCB):c.1398+1G>T SNV
Germline
Chr3:136327733 Pathogenic/Likely pathogenic Propionic acidemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278500 rs_794727092

6 SubmittersRCV000174489RCV000724428

NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) SNV
Germline
Chr13:100425674 Pathogenic/Likely pathogenic Propionic acidemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278503 rs_776496862

3 SubmittersRCV000176030RCV000724429

NM_000282.4(PCCA):c.232-1G>A SNV
Germline
Chr13:100111992 Pathogenic/Likely pathogenic Condition: not provided
Propionic acidemia
Criteria Provided
Multiple Submitters
No Conflicts
CA278509 rs_794727620

2 SubmittersRCV000178067RCV002516765

NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) SNV
Germline
Chr3:136293784 Pathogenic Propionic acidemia
not specified
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA278515 rs_374722096

13 SubmittersRCV000179767RCV000507200RCV000413250RCV003372636

NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) SNV
Germline
Chr3:136298003 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
PCCB-related disorder
Criteria Provided
Conflicting Classifications
CA247546 rs_150555106

10 SubmittersRCV000515420RCV000723557RCV003937633

NM_000532.5(PCCB):c.49C>A (p.Leu17Met) SNV
Germline
Chr3:136250424 Conflicting classifications of pathogenicity not specified
Condition: not provided
Propionic acidemia
PCCB-related disorder
Criteria Provided
Conflicting Classifications
CA312824 rs_200185747

10 SubmittersRCV000186089RCV000441240RCV001083724RCV003917704

NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) SNV
Germline
Chr3:136283856 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_796052024

3 SubmittersRCV000669412

NM_000532.5(PCCB):c.611C>T (p.Ala204Val) SNV
Germline
Chr3:136283904 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_760499581

3 SubmittersRCV000664635

NM_000532.5(PCCB):c.655-2A>G SNV
Germline
Chr3:136293754 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1553778865

5 SubmittersRCV001293409

NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) SNV
Germline
Chr3:136301087 Pathogenic/Likely pathogenic Propionic acidemia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA312822 rs_572246667

9 SubmittersRCV000341685RCV000186088RCV002517828

NM_000282.4(PCCA):c.328G>C (p.Val110Leu) SNV
Germline
Chr13:100155006 Conflicting classifications of pathogenicity Condition: not provided
Propionic acidemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA312817 rs_150788587

5 SubmittersRCV000186084RCV000380145RCV002513960

NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) SNV
Germline
Chr13:100157297 Pathogenic Condition: not provided
Propionic acidemia
Pontocerebellar hypoplasia type 2D
Criteria Provided
Multiple Submitters
No Conflicts
CA312819 rs_796052019

7 SubmittersRCV000186085RCV000414788RCV003984829

NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) SNV
Germline
Chr13:100449297 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_796052018

2 SubmittersRCV000664489

NM_000532.5(PCCB):c.183+5G>A SNV
Germline
Chr3:136250563 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA10575808 rs_879253813

4 SubmittersRCV000236355

NM_000532.5(PCCB):c.372+2T>C SNV
Germline
Chr3:136256625 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA10575809 rs_879253814

3 SubmittersRCV000236940

NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) SNV
Germline
Chr3:136262015 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA10575810 rs_879253815

6 SubmittersRCV000236206

NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys) SNV
Germline
Chr3:136327166 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA2632093 rs_777027944

3 SubmittersRCV000235547

NM_000532.5(PCCB):c.1498+2T>C SNV
Germline
Chr3:136328859 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA10575811 rs_879253816

6 SubmittersRCV000237038

NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) SNV
Germline
Chr3:136329946 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA2632235 rs_749908889

8 SubmittersRCV000235647

NM_000282.4(PCCA):c.105+1G>A SNV
Germline
Chr13:100089226 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA10575819 rs_879253804

2 SubmittersRCV000235483

NM_000282.4(PCCA):c.184-1G>A SNV
Germline
Chr13:100111840 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA10575822 rs_879253807

3 SubmittersRCV000235869

NM_000282.4(PCCA):c.284A>G (p.Asp95Gly) SNV
Germline
Chr13:100112045 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA10575823 rs_879253801

1 SubmittersRCV000235343

NM_000282.4(PCCA):c.431G>T (p.Gly144Val) SNV
Germline
Chr13:100157303 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA10575824 rs_879253808

1 SubmittersRCV000237065

NM_000282.4(PCCA):c.467T>A (p.Leu156Ter) SNV
Germline
Chr13:100157339 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA7033231 rs_760387660

1 SubmittersRCV000235728

NM_000282.4(PCCA):c.548T>G (p.Leu183Ter) SNV
Germline
Chr13:100209411 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA10575825 rs_879253811

1 SubmittersRCV000235810

NM_000282.4(PCCA):c.600+1G>T SNV
Germline
Chr13:100209464 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA10575826 rs_879253802

2 SubmittersRCV000235932

NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) SNV
Germline
Chr13:100268732 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA10575827 rs_879253810

2 SubmittersRCV000236908

NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) SNV
Germline
Chr13:100268747 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10575828 rs_879253805

4 SubmittersRCV000236234RCV002282038RCV002515491

NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) SNV
Germline
Chr13:100309905 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA7033643 rs_768703749

6 SubmittersRCV000236395

NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) SNV
Germline
Chr13:100368504 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7033745 rs_118169528

9 SubmittersRCV000236220RCV000611609RCV003401094

NM_000282.4(PCCA):c.1747-1G>C SNV
Germline
Chr13:100425632 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA10575829 rs_879253803

3 SubmittersRCV000236764

NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) SNV
Germline
Chr13:100515529 Pathogenic/Likely pathogenic Propionic acidemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA7033866 rs_771438170

6 SubmittersRCV000235940RCV003884401

NM_000282.4(PCCA):c.2040G>A (p.Ala680=) SNV
Germline
Chr13:100515567 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA7033876 rs_369982920

7 SubmittersRCV000236921

NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) SNV
Germline
Chr13:100527696 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA7033896 rs_774949844

3 SubmittersRCV000236842

NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) SNV
Germline
Chr3:136327650 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA2632149 rs_769521436

5 SubmittersRCV000490483

NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) SNV
Germline
Chr13:100301465 Conflicting classifications of pathogenicity Condition: not provided
Propionic acidemia
Criteria Provided
Conflicting Classifications
CA10581345 rs_761295534

3 SubmittersRCV000224898RCV000675079

NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) SNV
Germline
Chr3:136256588 Pathogenic Condition: not provided
Propionic acidemia
Abnormality of metabolism/homeostasis
Criteria Provided
Multiple Submitters
No Conflicts
CA2631690 rs_186031457

13 SubmittersRCV000255741RCV000613658RCV001814133

NM_000282.4(PCCA):c.1284+1G>A SNV
Germline
Chr13:100302999 Pathogenic/Likely pathogenic Condition: not provided
Propionic acidemia
PCCA-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA7033564 rs_752761437

9 SubmittersRCV000382350RCV000670117RCV003409392

NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) SNV
Germline
Chr13:100262814 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA7033380 rs_774738181

7 SubmittersRCV000343943RCV000726318RCV003479094

NM_000532.5(PCCB):c.184-1G>A SNV
Germline
Chr3:136255855 Pathogenic/Likely pathogenic Propionic acidemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA10606527 rs_886044246

3 SubmittersRCV000353159RCV000726367

NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) SNV
Germline
Chr3:136328780 Conflicting classifications of pathogenicity Propionic acidemia
Global developmental delay
Hyperammonemia
Condition: not provided
PCCB-related disorder
Criteria Provided
Conflicting Classifications
CA2632188 rs_145628302

7 SubmittersRCV000392658RCV000626699RCV000859703RCV003957774

NM_000532.5(PCCB):c.429+7G>A SNV
Germline
Chr3:136260542 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2631743 rs_201986472

5 SubmittersRCV000263351RCV000437361RCV002057841

NM_000532.5(PCCB):c.603T>C (p.Ala201=) SNV
Germline
Chr3:136283896 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA2631795 rs_141340198

2 SubmittersRCV000379889

NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) SNV
Germline
Chr3:136298024 Conflicting classifications of pathogenicity Propionic acidemia
PCCB-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2631888 rs_780837200

5 SubmittersRCV000321726RCV003418067RCV002504151

NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser) SNV
Germline
Chr3:136326866 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2632027 rs_151078515

4 SubmittersRCV000336865RCV000727577

NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) SNV
Germline
Chr3:136283888 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
PCCB-related disorder
Criteria Provided
Conflicting Classifications
CA2631791 rs_371155999

4 SubmittersRCV000325301RCV001706552RCV003950206

NM_000532.5(PCCB):c.1452A>G (p.Ala484=) SNV
Germline
Chr3:136328811 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Criteria Provided
Conflicting Classifications
CA2632194 rs_781556055

4 SubmittersRCV000312229RCV000427679

NM_000532.5(PCCB):c.45C>T (p.Ser15=) SNV
Germline
Chr3:136250420 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA2631555 rs_754664563

3 SubmittersRCV000348610

NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) SNV
Germline
Chr3:136256589 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
PCCB-related disorder
Criteria Provided
Conflicting Classifications
CA2631691 rs_138246328

7 SubmittersRCV000355728RCV001556201RCV003950205

NM_000532.5(PCCB):c.555G>C (p.Thr185=) SNV
Germline
Chr3:136283848 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA10617427 rs_543691110

2 SubmittersRCV000270284

NM_000532.5(PCCB):c.882C>T (p.Pro294=) SNV
Germline
Chr3:136298070 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2631904 rs_142730126

7 SubmittersRCV000281740RCV000439688RCV001705512

NM_000532.5(PCCB):c.1199-8A>G SNV
Germline
Chr3:136327147 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA10617428 rs_886058019

3 SubmittersRCV000372795

NM_000282.4(PCCA):c.432A>G (p.Gly144=) SNV
Germline
Chr13:100157304 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA7033227 rs_768756825

3 SubmittersRCV000283779

NM_000282.4(PCCA):c.231+15C>T SNV
Germline
Chr13:100111903 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7033143 rs_202049874

5 SubmittersRCV000323167RCV000611978RCV000514592

NM_000282.4(PCCA):c.2172C>T (p.Leu724=) SNV
Germline
Chr13:100530151 Conflicting classifications of pathogenicity Propionic acidemia
PCCA-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7033935 rs_150352833

7 SubmittersRCV000363413RCV003977916RCV001705465

NM_000282.4(PCCA):c.-20G>A SNV
Germline
Chr13:100089101 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Criteria Provided
Conflicting Classifications
CA7033052 rs_374941593

2 SubmittersRCV000381820RCV000421667

NM_000282.4(PCCA):c.1236A>G (p.Pro412=) SNV
Germline
Chr13:100302950 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7033551 rs_41281120

7 SubmittersRCV000405157RCV001705464

NM_000282.4(PCCA):c.2037C>T (p.Asp679=) SNV
Germline
Chr13:100515564 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA7033873 rs_146870931

3 SubmittersRCV000364451

NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) SNV
Germline
Chr3:136298060 Conflicting classifications of pathogenicity Condition: not provided
Propionic acidemia
not specified
Criteria Provided
Conflicting Classifications
CA2631898 rs_77820367

6 SubmittersRCV000430877RCV001086397RCV003488590

NM_000282.4(PCCA):c.1285-4C>T SNV
Germline
Chr13:100307188 Conflicting classifications of pathogenicity not specified
Propionic acidemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7033599 rs_372262089

3 SubmittersRCV000429591RCV000938495RCV002521719

NM_000282.4(PCCA):c.42C>T (p.Ala14=) SNV
Germline
Chr13:100089162 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7033065 rs_200714802

3 SubmittersRCV000864224RCV001704456

NM_000282.4(PCCA):c.828T>C (p.Gly276=) SNV
Germline
Chr13:100268697 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
PCCA-related disorder
Criteria Provided
Conflicting Classifications
CA7033415 rs_143838146

5 SubmittersRCV000870682RCV001698237RCV003959930

NM_000282.4(PCCA):c.742G>A (p.Glu248Lys) SNV
Germline
Chr13:100262754 Conflicting classifications of pathogenicity Condition: not provided
Propionic acidemia
Criteria Provided
Conflicting Classifications
CA16619606 rs_1064793224

2 SubmittersRCV000480056RCV002525770

NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) SNV
Germline
Chr13:100340174 Conflicting classifications of pathogenicity Condition: not provided
Propionic acidemia
not specified
PCCA-related disorder
Criteria Provided
Conflicting Classifications
CA7033719 rs_112237881

5 SubmittersRCV000493022RCV001083571RCV003330725RCV003972818

NM_000532.5(PCCB):c.303+8T>A SNV
Germline
Chr3:136255983 Conflicting classifications of pathogenicity Condition: not provided
Propionic acidemia
Criteria Provided
Conflicting Classifications
CA2631658 rs_199769617

2 SubmittersRCV000513545RCV001084379

NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) SNV
Germline
Chr13:100268762 Pathogenic/Likely pathogenic Condition: not provided
Propionic acidemia
Criteria Provided
Multiple Submitters
No Conflicts
CA388694612 rs_1444049793

5 SubmittersRCV000522063RCV000664657

NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) SNV
Germline
Chr13:100515544 Conflicting classifications of pathogenicity Condition: not provided
Propionic acidemia
PCCA-related disorder
Criteria Provided
Conflicting Classifications
CA7033870 rs_142646074

6 SubmittersRCV000525403RCV001086663RCV003915506

NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) SNV
Germline
Chr13:100262794 Conflicting classifications of pathogenicity Propionic acidemia
not specified
PCCA-related disorder
Criteria Provided
Conflicting Classifications
CA388694346 rs_1169861687

6 SubmittersRCV000538185RCV003230533RCV003942761

NM_000282.4(PCCA):c.1896A>G (p.Thr632=) SNV
Germline
Chr13:100449302 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7033820 rs_61760965

4 SubmittersRCV000551482RCV003403270

NM_000282.4(PCCA):c.2119-9A>G SNV
Germline
Chr13:100530089 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA484535001 rs_1389933015

3 SubmittersRCV000534995

NM_000282.4(PCCA):c.947T>A (p.Met316Lys) SNV
Germline
Chr13:100273228 Conflicting classifications of pathogenicity Condition: not provided
Propionic acidemia
Criteria Provided
Conflicting Classifications
CA388694736 rs_137861347

3 SubmittersRCV000586456RCV001853980

NM_000282.4(PCCA):c.947T>G (p.Met316Arg) SNV
Germline
Chr13:100273228 Conflicting classifications of pathogenicity Condition: not provided
Propionic acidemia
Criteria Provided
Conflicting Classifications
CA388694737 rs_137861347

2 SubmittersRCV000597665RCV001867939

NM_000282.4(PCCA):c.1065+5C>T SNV
Germline
Chr13:100273351 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
PCCA-related disorder
Criteria Provided
Conflicting Classifications
CA7033480 rs_201597816

8 SubmittersRCV000804989RCV001529879RCV003927991

NM_000532.5(PCCB):c.763+10C>G SNV
Germline
Chr3:136293874 Conflicting classifications of pathogenicity Global developmental delay
Hyperammonemia
Propionic acidemia
PCCB-related disorder
Criteria Provided
Conflicting Classifications
CA2631852 rs_180982841

5 SubmittersRCV000626700RCV000634865RCV003917994

NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) SNV
Germline
Chr3:136262006 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Criteria Provided
Conflicting Classifications
CA2631758 rs_754752068

4 SubmittersRCV000634872RCV001193212

NM_000532.5(PCCB):c.654+3A>C SNV
Germline
Chr3:136283950 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
PCCB-related disorder
Criteria Provided
Conflicting Classifications
CA2631806 rs_199886085

6 SubmittersRCV000634873RCV001637106RCV003928063

NM_000532.5(PCCB):c.184-2A>G SNV
Unknown
Chr3:136255854 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1553774015

2 SubmittersRCV000667421

NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) SNV
Germline
Chr3:136256582 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_753981900

4 SubmittersRCV000668811

NM_000532.5(PCCB):c.763+1G>A SNV
Unknown
Chr3:136293865 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1553778912

1 SubmittersRCV000671247

NM_000532.5(PCCB):c.884+1G>C SNV
Unknown
Chr3:136298073 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1553779458

1 SubmittersRCV000673821

NM_000532.5(PCCB):c.885-2A>G SNV
Unknown
Chr3:136301028 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1553780163

1 SubmittersRCV000673046

NM_000532.5(PCCB):c.966+1G>T SNV
Unknown
Chr3:136301112 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1385850128

2 SubmittersRCV000670425

NM_000532.5(PCCB):c.967-2A>C SNV
Unknown
Chr3:136316939 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1553782747

2 SubmittersRCV000674427

NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) SNV
Germline
Chr3:136326839 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_142982097

2 SubmittersRCV000674584

NM_000532.5(PCCB):c.1300-2A>C SNV
Unknown
Chr3:136327632 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1553784684

1 SubmittersRCV000669264

NM_000532.5(PCCB):c.14T>G (p.Leu5Ter) SNV
Germline
Chr3:136250389 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1292452485

3 SubmittersRCV000672023

NM_000532.5(PCCB):c.429+1G>A SNV
Germline
Chr3:136260536 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1317017233

2 SubmittersRCV000673514

NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) SNV
Germline
Chr3:136262016 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1304714042

4 SubmittersRCV000666130

NM_000532.5(PCCB):c.544-2A>G SNV
Germline
Chr3:136283835 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_752377212

3 SubmittersRCV000672362

NM_000532.5(PCCB):c.654+1G>C SNV
Unknown
Chr3:136283948 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1553777590

1 SubmittersRCV000673118

NM_000532.5(PCCB):c.1127G>A (p.Arg376His) SNV
Germline
Chr3:136326839 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_142982097

3 SubmittersRCV000674433

NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter) SNV
Germline
Chr3:136328788 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1553784921

3 SubmittersRCV000667545

NM_000532.5(PCCB):c.319G>A (p.Val107Met) SNV
Germline
Chr3:136256570 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_1553774114

2 SubmittersRCV000671409

NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) SNV
Germline
Chr3:136283855 Pathogenic/Likely pathogenic Propionic acidemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_746102997

5 SubmittersRCV000674578RCV001268006

NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) SNV
Unknown
Chr3:136293864 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_1553778909

2 SubmittersRCV000673510

NM_000532.5(PCCB):c.763+2T>A SNV
Unknown
Chr3:136293866 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1553778914

2 SubmittersRCV000672128

NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) SNV
Germline
Chr3:136327635 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_751538672

5 SubmittersRCV000670133

NM_000532.5(PCCB):c.1090+2T>C SNV
Germline
Chr3:136317066 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1553782779

2 SubmittersRCV000668574

NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) SNV
Germline
Chr3:136327185 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_778742647

5 SubmittersRCV000673426

NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) SNV
Germline
Chr13:100257616 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_1555396108

3 SubmittersRCV000669398

NM_000282.4(PCCA):c.915-1G>C SNV
Germline
Chr13:100273195 Pathogenic/Likely pathogenic Propionic acidemia
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
rs_367615795

6 SubmittersRCV000667400RCV002530710

NM_000282.4(PCCA):c.1540+2T>A SNV
Germline
Chr13:100330673 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1555422449

2 SubmittersRCV000669915

NM_000282.4(PCCA):c.2040+1G>T SNV
Unknown
Chr13:100515568 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1555327732

1 SubmittersRCV000674408

NM_000282.4(PCCA):c.183+2T>C SNV
Germline
Chr13:100102962 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1555342593

2 SubmittersRCV000667341

NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) SNV
Germline
Chr13:100111886 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_141371306

6 SubmittersRCV000665579

NM_000282.4(PCCA):c.1209+3A>G SNV
Germline
Chr13:100301606 Pathogenic/Likely pathogenic Propionic acidemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1467680142

4 SubmittersRCV000668869RCV002275128

NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) SNV
Germline
Chr13:100330561 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_776355907

2 SubmittersRCV000664973

NM_000282.4(PCCA):c.1746G>A (p.Ser582=) SNV
Germline
Chr13:100368574 Conflicting classifications of pathogenicity Propionic acidemia
PCCA-related disorder
Criteria Provided
Conflicting Classifications
rs_192171304

5 SubmittersRCV000672493RCV003892521

NM_000282.4(PCCA):c.231+1G>C SNV
Germline
Chr13:100111889 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_972937270

5 SubmittersRCV000664756

NM_000282.4(PCCA):c.1846-1G>A SNV
Germline
Chr13:100449251 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1555298451

2 SubmittersRCV000673557

NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) SNV
Germline
Chr13:100449261 Pathogenic/Likely pathogenic Propionic acidemia
PCCA-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
rs_1194679272

5 SubmittersRCV000669487RCV003928159

NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) SNV
Germline
Chr13:100302982 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1443858896

4 SubmittersRCV000669921

NM_000282.4(PCCA):c.1540+1G>C SNV
Germline
Chr13:100330672 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_199604072

2 SubmittersRCV000670479

NM_000282.4(PCCA):c.1997T>A (p.Met666Lys) SNV
Germline
Chr13:100515524 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Criteria Provided
Conflicting Classifications
rs_999241357

3 SubmittersRCV000674908RCV004526009

NM_000282.4(PCCA):c.2041-2A>G SNV
Germline
Chr13:100527673 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_776281864

4 SubmittersRCV000667861

NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter) SNV
Germline
Chr13:100527690 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1241896966

3 SubmittersRCV000667828

NM_000532.5(PCCB):c.467T>C (p.Ile156Thr) SNV
Germline
Chr3:136261989 Conflicting classifications of pathogenicity Propionic acidemia
PCCB-related disorder
Criteria Provided
Conflicting Classifications
rs_1559998737

3 SubmittersRCV000690991RCV003403602

NM_000532.5(PCCB):c.791A>G (p.Asp264Gly) SNV
Germline
Chr3:136297979 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1560017781

1 SubmittersRCV000705128

NM_000282.4(PCCA):c.819+9A>G SNV
Germline
Chr13:100262840 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_372739944

3 SubmittersRCV000689202

NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) SNV
Germline
Chr13:100111887 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_1387778734

4 SubmittersRCV000778383

NM_000282.4(PCCA):c.415-2A>C SNV
Germline
Chr13:100157285 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_746286209

4 SubmittersRCV000780576

NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) SNV
Germline
Chr3:136301034 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_549397464

4 SubmittersRCV000784910

NM_000532.5(PCCB):c.365T>C (p.Phe122Ser) SNV
Germline
Chr3:136256616 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
rs_1576402832

1 SubmittersRCV000790497

NM_000532.5(PCCB):c.410A>G (p.His137Arg) SNV
Germline
Chr3:136260516 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
rs_1391142709

1 SubmittersRCV000790498

NM_000532.5(PCCB):c.703A>C (p.Thr235Pro) SNV
Germline
Chr3:136293804 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
rs_1021206121

1 SubmittersRCV000790499

NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) SNV
Germline
Chr3:136293834 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_756414710

4 SubmittersRCV000790500

NM_000532.5(PCCB):c.800C>A (p.Ala267Asp) SNV
Germline
Chr3:136297988 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
rs_774249198

1 SubmittersRCV000790501

NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser) SNV
Germline
Chr3:136327190 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
rs_1576360539

1 SubmittersRCV000790505

NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe) SNV
Germline
Chr3:136327673 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
rs_1576360934

1 SubmittersRCV000790506

NM_000532.5(PCCB):c.1373C>T (p.Ala458Val) SNV
Germline
Chr3:136327707 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
rs_1576360976

1 SubmittersRCV000790507

NM_000282.4(PCCA):c.2T>A (p.Met1Lys) SNV
Germline
Chr13:100089122 Pathogenic Propionic acidemia No Assertion Criteria Provided
rs_372093520

1 SubmittersRCV000790481

NM_000282.4(PCCA):c.43G>T (p.Gly15Ter) SNV
Germline
Chr13:100089163 Pathogenic Propionic acidemia No Assertion Criteria Provided
rs_1593996636

1 SubmittersRCV000790482

NM_000282.4(PCCA):c.524G>A (p.Gly175Asp) SNV
Germline
Chr13:100209387 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
rs_1421021643

1 SubmittersRCV000790485

NM_000282.4(PCCA):c.683G>T (p.Gly228Val) SNV
Germline
Chr13:100257640 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
rs_1594961620

1 SubmittersRCV000790486

NM_000282.4(PCCA):c.734C>G (p.Ser245Ter) SNV
Germline
Chr13:100262746 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1594992191

2 SubmittersRCV000790487

NM_000282.4(PCCA):c.803G>T (p.Arg268Leu) SNV
Germline
Chr13:100262815 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
rs_368047060

1 SubmittersRCV000790488

NM_000282.4(PCCA):c.869G>A (p.Cys290Tyr) SNV
Germline
Chr13:100268738 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
rs_1595032920

1 SubmittersRCV000790489

NM_000282.4(PCCA):c.872C>T (p.Ser291Leu) SNV
Germline
Chr13:100268741 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
rs_1595033018

1 SubmittersRCV000790490

NM_000282.4(PCCA):c.1066G>C (p.Val356Leu) SNV
Germline
Chr13:100301460 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
rs_1595202534

1 SubmittersRCV000790491

NM_000282.4(PCCA):c.2077A>T (p.Met693Leu) SNV
Germline
Chr13:100527711 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
rs_1594160545

1 SubmittersRCV000790495

NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) SNV
Germline
Chr13:100257645 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_778530330

3 SubmittersRCV000800267

NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) SNV
Germline
Chr13:100301587 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_149293297

2 SubmittersRCV000810903

NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp) SNV
Germline
Chr13:100301589 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1234167788

2 SubmittersRCV000820501

NM_000282.4(PCCA):c.2041-1G>T SNV
Germline
Chr13:100527674 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1367867218

2 SubmittersRCV000802701

NM_000532.5(PCCB):c.561C>T (p.Ser187=) SNV
Germline
Chr3:136283854 Conflicting classifications of pathogenicity Condition: not provided
Propionic acidemia
PCCB-related disorder
Criteria Provided
Conflicting Classifications
rs_145057852

5 SubmittersRCV000830858RCV001083919RCV003918294

NM_000532.5(PCCB):c.180G>A (p.Lys60=) SNV
Germline
Chr3:136250555 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_140636870

4 SubmittersRCV000877066RCV001565080

NM_000532.5(PCCB):c.774C>G (p.His258Gln) SNV
Germline
Chr3:136297962 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_141615209

5 SubmittersRCV000874732RCV001192545RCV001547426

NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) SNV
Germline
Chr3:136329947 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_577625696

3 SubmittersRCV000872035

NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) SNV
Germline
Chr13:100449256 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
PCCA-related disorder
Criteria Provided
Conflicting Classifications
rs_563417983

5 SubmittersRCV000877589RCV003411870RCV003948256

NM_000532.5(PCCB):c.544-5G>C SNV
Germline
Chr3:136283832 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_372351800

4 SubmittersRCV001148765RCV001551113

NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) SNV
Germline
Chr3:136327686 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_145135400

3 SubmittersRCV000973820RCV001563448

NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) SNV
Germline
Chr13:100273210 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_146927771

7 SubmittersRCV000970533RCV001558271RCV004029951

NM_000282.4(PCCA):c.945G>A (p.Ala315=) SNV
Germline
Chr13:100273226 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_373115130

3 SubmittersRCV000911741RCV002065812

NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter) SNV
Unknown
Chr3:136327163 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_768935968

1 SubmittersRCV000987339

NM_000282.4(PCCA):c.1845+1G>A SNV
Germline
Chr13:100425732 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1595860868

1 SubmittersRCV001030037

NM_000532.5(PCCB):c.749A>G (p.His250Arg) SNV
Germline
Chr3:136293850 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1933813724

2 SubmittersRCV001055500

NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser) SNV
Germline
Chr3:136327643 Conflicting classifications of pathogenicity Propionic acidemia
PCCB-related disorder
Criteria Provided
Conflicting Classifications
rs_1349202366

5 SubmittersRCV001037425RCV003413821

NM_000532.5(PCCB):c.1535G>A (p.Arg512His) SNV
Germline
Chr3:136329941 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_764697873

4 SubmittersRCV001053931

NM_000282.4(PCCA):c.451G>T (p.Glu151Ter) SNV
Germline
Chr13:100157323 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_2053984648

2 SubmittersRCV001054472

NM_000282.4(PCCA):c.556A>T (p.Lys186Ter) SNV
Germline
Chr13:100209419 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2059069232

1 SubmittersRCV001058543

NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter) SNV
Germline
Chr13:100307195 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_776821944

4 SubmittersRCV001055670

NM_000282.4(PCCA):c.717-2A>G SNV
Germline
Chr13:100262727 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_2062611307

3 SubmittersRCV001054532

NM_000282.4(PCCA):c.1065+1G>C SNV
Germline
Chr13:100273347 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2063433750

1 SubmittersRCV001068159

NM_000282.4(PCCA):c.805C>T (p.His269Tyr) SNV
Germline
Chr13:100262817 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2062620327

1 SubmittersRCV001089988

NM_000282.4(PCCA):c.762C>T (p.Gly254=) SNV
Germline
Chr13:100262774 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_758211858

2 SubmittersRCV001115048

NM_000282.4(PCCA):c.1953G>A (p.Leu651=) SNV
Germline
Chr13:100515480 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_765771203

3 SubmittersRCV001112175

NM_000282.4(PCCA):c.638-5G>A SNV
Germline
Chr13:100257590 Conflicting classifications of pathogenicity Propionic acidemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_764316702

3 SubmittersRCV001115046RCV002556256

NM_000532.5(PCCB):c.884G>C (p.Ser295Thr) SNV
Germline
Chr3:136298072 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Criteria Provided
Conflicting Classifications
rs_752029455

4 SubmittersRCV001144196RCV002265954

NM_000532.5(PCCB):c.654+14G>T SNV
Germline
Chr3:136283961 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_1457950469

2 SubmittersRCV001253909

NM_000532.5(PCCB):c.1499-1G>C SNV
Germline
Chr3:136329904 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1935478339

1 SubmittersRCV001192546

NM_000532.5(PCCB):c.505G>T (p.Gly169Ter) SNV
Germline
Chr3:136262027 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1941842008

1 SubmittersRCV001215763

NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro) SNV
Germline
Chr3:136317061 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_770341883

3 SubmittersRCV001208742

NM_000282.4(PCCA):c.1181G>A (p.Trp394Ter) SNV
Germline
Chr13:100301575 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1165198558

1 SubmittersRCV001203915

NM_000282.4(PCCA):c.637+1G>A SNV
Germline
Chr13:100235879 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1265911468

1 SubmittersRCV001202303

NM_000282.4(PCCA):c.820-1G>A SNV
Germline
Chr13:100268688 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2063103516

1 SubmittersRCV001217000

NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) SNV
Germline
Chr3:136329920 Conflicting classifications of pathogenicity Propionic acidemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_1353542774

4 SubmittersRCV001247013RCV002568671

NM_000532.5(PCCB):c.1198+1G>A SNV
Germline
Chr3:136326911 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1935333494

1 SubmittersRCV001235194

NM_000282.4(PCCA):c.106-1G>A SNV
Germline
Chr13:100102882 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_769819121

2 SubmittersRCV001236808

NM_000532.5(PCCB):c.1597A>G (p.Lys533Glu) SNV
Germline
Chr3:136330003 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
rs_1935483520

1 SubmittersRCV001257444

NM_000282.4(PCCA):c.2119-2A>G SNV
Germline
Chr13:100530096 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_867315913

2 SubmittersRCV001261624

NM_000277.3(PAH):c.223G>C (p.Asp75His) SNV
Germline
Chr12:102894864 Likely pathogenic Phenylketonuria
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Propionic acidemia
Reviewed By Expert Panel
rs_767453024

3 SubmittersRCV001269068RCV004526825RCV004545164

NM_000282.4(PCCA):c.468+1G>A SNV
Germline
Chr13:100157341 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_766139678

1 SubmittersRCV001293405

NM_000282.4(PCCA):c.1187T>G (p.Val396Gly) SNV
Germline
Chr13:100301581 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1555411216

1 SubmittersRCV001293406

NM_000532.5(PCCB):c.332G>A (p.Arg111Gln) SNV
Germline
Chr3:136256583 Conflicting classifications of pathogenicity Propionic acidemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_757534748

3 SubmittersRCV001352317RCV002547553

NM_000532.5(PCCB):c.2T>C (p.Met1Thr) SNV
Germline
Chr3:136250377 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_398123462

1 SubmittersRCV001378948

NM_000282.4(PCCA):c.183+1G>A SNV
Germline
Chr13:100102961 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_757540625

2 SubmittersRCV001377891

NM_000282.4(PCCA):c.232-2A>G SNV
Germline
Chr13:100111991 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_747968405

1 SubmittersRCV001379088

NM_000282.4(PCCA):c.232-2A>T SNV
Germline
Chr13:100111991 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_747968405

1 SubmittersRCV001377595

NM_000282.4(PCCA):c.637+2T>A SNV
Germline
Chr13:100235880 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2152522245

1 SubmittersRCV001379930

NM_000282.4(PCCA):c.1846-1G>T SNV
Germline
Chr13:100449251 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1555298451

1 SubmittersRCV001378081

NM_000532.5(PCCB):c.600T>A (p.Cys200Ter) SNV
Germline
Chr3:136283893 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_759098964

1 SubmittersRCV001388863

NM_000532.5(PCCB):c.737G>T (p.Gly246Val) SNV
Germline
Chr3:136293838 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2108197348

1 SubmittersRCV001389822

NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu) SNV
Germline
Chr3:136326858 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_2108237867

2 SubmittersRCV001384626

NM_000282.4(PCCA):c.872C>G (p.Ser291Ter) SNV
Germline
Chr13:100268741 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1595033018

1 SubmittersRCV001385418

NM_000282.4(PCCA):c.1189G>T (p.Glu397Ter) SNV
Germline
Chr13:100301583 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1295357399

1 SubmittersRCV001383530

NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter) SNV
Germline
Chr13:100307219 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2152692650

1 SubmittersRCV001386768

NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter) SNV
Germline
Chr13:100340177 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_2071086995

2 SubmittersRCV001387357

NM_000282.4(PCCA):c.1988G>A (p.Arg663His) SNV
Germline
Chr13:100515515 Conflicting classifications of pathogenicity Propionic acidemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_780042764

2 SubmittersRCV001463129RCV004038620

NM_000532.5(PCCB):c.1091-6T>C SNV
Germline
Chr3:136326797 Conflicting classifications of pathogenicity Propionic acidemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_778146041

2 SubmittersRCV001487056RCV002562713

NM_000282.4(PCCA):c.1831C>T (p.Gln611Ter) SNV
Germline
Chr13:100425717 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_2152894046

3 SubmittersRCV001733363

NM_000532.5(PCCB):c.430-1G>A SNV
Germline
Chr3:136261951 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2108146606

1 SubmittersRCV001784801

NM_000282.4(PCCA):c.362A>G (p.Tyr121Cys) SNV
Germline
Chr13:100155040 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_936088423

2 SubmittersRCV001782572

NM_000282.4(PCCA):c.1900-2A>G SNV
Germline
Chr13:100515425 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2152998141

1 SubmittersRCV001782573

NM_000532.5(PCCB):c.947T>G (p.Met316Arg) SNV
Germline
Chr3:136301092 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_2108208811

2 SubmittersRCV001806836

NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg) SNV
Germline
Chr13:100368510 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_2152811823

2 SubmittersRCV001805737

NM_000532.5(PCCB):c.682C>G (p.Pro228Ala) SNV
Germline
Chr3:136293783 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_1052979420

2 SubmittersRCV001808255

NM_000532.5(PCCB):c.836C>G (p.Pro279Arg) SNV
Germline
Chr3:136298024 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_780837200

1 SubmittersRCV002012814

NM_000282.4(PCCA):c.1430-1G>A SNV
Germline
Chr13:100330560 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2152733805

1 SubmittersRCV001990336

NM_000532.5(PCCB):c.334G>A (p.Gly112Ser) SNV
Germline
Chr3:136256585 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1941676220

1 SubmittersRCV001969147

NM_000532.5(PCCB):c.734G>A (p.Gly245Asp) SNV
Germline
Chr3:136293835 Conflicting classifications of pathogenicity Propionic acidemia
PCCB-related disorder
Criteria Provided
Conflicting Classifications
rs_778242891

2 SubmittersRCV001965438RCV003401934

NM_000282.4(PCCA):c.1456C>T (p.Arg486Ter) SNV
Germline
Chr13:100330587 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2069404553

1 SubmittersRCV001930581

NM_000532.5(PCCB):c.814C>T (p.Arg272Trp) SNV
Germline
Chr3:136298002 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
rs_375999824

2 SubmittersRCV001933382

NM_000282.4(PCCA):c.415-2A>G SNV
Germline
Chr13:100157285 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_746286209

1 SubmittersRCV001875421

NM_000532.5(PCCB):c.303+1G>T SNV
Germline
Chr3:136255976 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1941662983

1 SubmittersRCV002005208

NM_000282.4(PCCA):c.2038G>A (p.Ala680Thr) SNV
Germline
Chr13:100515565 Conflicting classifications of pathogenicity Propionic acidemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_201570489

2 SubmittersRCV001930791RCV002557775

NM_000532.5(PCCB):c.177C>G (p.His59Gln) SNV
Germline
Chr3:136250552 Conflicting classifications of pathogenicity Propionic acidemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_757134877

2 SubmittersRCV002045334RCV002657689

NM_000532.5(PCCB):c.543+1G>A SNV
Germline
Chr3:136262066 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2108146835

1 SubmittersRCV001976657

NM_000282.4(PCCA):c.1900-1G>A SNV
Germline
Chr13:100515426 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_2152998142

3 SubmittersRCV002007017

NM_000532.5(PCCB):c.493C>G (p.Arg165Gly) SNV
Germline
Chr3:136262015 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_879253815

1 SubmittersRCV001986014

NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys) SNV
Germline
Chr3:136326838 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Criteria Provided
Conflicting Classifications
rs_200306164

2 SubmittersRCV001993127RCV002300631

NM_000532.5(PCCB):c.1519C>T (p.Gln507Ter) SNV
Germline
Chr3:136329925 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2108241656

1 SubmittersRCV002007145

NM_000532.5(PCCB):c.1091-1G>A SNV
Germline
Chr3:136326802 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2108237784

1 SubmittersRCV001974202

NM_000282.4(PCCA):c.1196G>T (p.Arg399Leu) SNV
Germline
Chr13:100301590 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1301904623

1 SubmittersRCV001983721

NM_000282.4(PCCA):c.689G>A (p.Arg230His) SNV
Germline
Chr13:100257646 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_747943045

1 SubmittersRCV002011594

NM_000282.4(PCCA):c.414+1G>T SNV
Germline
Chr13:100155093 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2152383049

1 SubmittersRCV002025075

NM_000532.5(PCCB):c.1582C>T (p.Gln528Ter) SNV
Germline
Chr3:136329988 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1935482553

3 SubmittersRCV001949114

NM_000282.4(PCCA):c.217G>T (p.Glu73Ter) SNV
Germline
Chr13:100111874 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_2152278559

2 SubmittersRCV001953433

NM_000282.4(PCCA):c.127C>T (p.Gln43Ter) SNV
Germline
Chr13:100102904 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2047400320

1 SubmittersRCV001877608

NM_000282.4(PCCA):c.600+1G>A SNV
Germline
Chr13:100209464 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_879253802

2 SubmittersRCV001864042

NM_000282.4(PCCA):c.1746+1G>A SNV
Germline
Chr13:100368575 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_2075369142

2 SubmittersRCV001963180

NM_000532.5(PCCB):c.373-1G>C SNV
Germline
Chr3:136260478 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2108144374

1 SubmittersRCV002006356

NM_000532.5(PCCB):c.614T>A (p.Val205Asp) SNV
Germline
Chr3:136283907 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_1303129574

1 SubmittersRCV001975047

NM_000532.5(PCCB):c.991G>T (p.Glu331Ter) SNV
Germline
Chr3:136316965 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_2108226567

2 SubmittersRCV001956511

NM_000282.4(PCCA):c.1196G>A (p.Arg399Gln) SNV
Germline
Chr13:100301590 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_1301904623

2 SubmittersRCV001977302

NM_000532.5(PCCB):c.967-14A>G SNV
Germline
Chr3:136316927 Conflicting classifications of pathogenicity Propionic acidemia
PCCB-related disorder
Criteria Provided
Conflicting Classifications
rs_1011978513

2 SubmittersRCV001892524RCV003416534

NM_000532.5(PCCB):c.764-3T>C SNV
Germline
Chr3:136297949 Conflicting classifications of pathogenicity Propionic acidemia
PCCB-related disorder
Criteria Provided
Conflicting Classifications
rs_147939913

2 SubmittersRCV001979356RCV003948850

NM_000532.5(PCCB):c.632C>G (p.Thr211Arg) SNV
Germline
Chr3:136283925 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2108182082

1 SubmittersRCV001978640

NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg) SNV
Germline
Chr3:136326908 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_753037539

2 SubmittersRCV002251221

NM_000532.5(PCCB):c.593G>A (p.Gly198Asp) SNV
Germline
Chr3:136283886 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002281827

NM_000532.5(PCCB):c.1499-2A>G SNV
Germline
Chr3:136329903 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002308622

NM_000282.4(PCCA):c.493G>T (p.Gly165Ter) SNV
Unknown
Chr13:100209356 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002307856

NM_000532.5(PCCB):c.934A>T (p.Lys312Ter) SNV
Unknown
Chr3:136301079 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002308182

NM_000532.5(PCCB):c.923T>A (p.Leu308Ter) SNV
Unknown
Chr3:136301068 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002309092

NM_000532.5(PCCB):c.1095C>A (p.Cys365Ter) SNV
Unknown
Chr3:136326807 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002309375

NM_000282.4(PCCA):c.904G>T (p.Glu302Ter) SNV
Unknown
Chr13:100268773 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002310207

NM_000282.4(PCCA):c.959C>A (p.Ala320Asp) SNV
Germline
Chr13:100273240 Pathogenic Propionic acidemia No Assertion Criteria Provided

1 SubmittersRCV002466762

NM_000282.4(PCCA):c.877C>G (p.Gln293Glu) SNV
Germline
Chr13:100268746 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003062605

NM_000532.5(PCCB):c.1199-1G>C SNV
Germline
Chr3:136327154 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003075163

NM_000532.5(PCCB):c.748C>T (p.His250Tyr) SNV
Germline
Chr3:136293849 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003061546

NM_000282.4(PCCA):c.1267C>T (p.Pro423Ser) SNV
Germline
Chr13:100302981 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003090307

NM_000282.4(PCCA):c.1117A>G (p.Met373Val) SNV
Germline
Chr13:100301511 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002606046

NM_000282.4(PCCA):c.172C>T (p.Pro58Ser) SNV
Germline
Chr13:100102949 Conflicting classifications of pathogenicity Propionic acidemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002611714RCV004070521

NM_000532.5(PCCB):c.1199-2A>G SNV
Germline
Chr3:136327153 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002651748

NM_000532.5(PCCB):c.1313C>T (p.Ala438Val) SNV
Germline
Chr3:136327647 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002651751

NM_000532.5(PCCB):c.1514T>A (p.Ile505Asn) SNV
Germline
Chr3:136329920 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002664322

NM_000282.4(PCCA):c.468+1G>C SNV
Germline
Chr13:100157341 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002642592

NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser) SNV
Germline
Chr3:136326884 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002646825

NM_000282.4(PCCA):c.1408C>G (p.Leu470Val) SNV
Germline
Chr13:100309887 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002790703

NM_000532.5(PCCB):c.1143T>A (p.Cys381Ter) SNV
Germline
Chr3:136326855 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002852807

NM_000532.5(PCCB):c.304-1G>A SNV
Germline
Chr3:136256554 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002880913

NM_000532.5(PCCB):c.835C>T (p.Pro279Ser) SNV
Germline
Chr3:136298023 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002862696

NM_000532.5(PCCB):c.175C>A (p.His59Asn) SNV
Germline
Chr3:136250550 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002858392

NM_000282.4(PCCA):c.468+2T>C SNV
Germline
Chr13:100157342 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002871506

NM_000532.5(PCCB):c.1465A>T (p.Lys489Ter) SNV
Germline
Chr3:136328824 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002885338

NM_000282.4(PCCA):c.300+1G>A SNV
Germline
Chr13:100112062 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002909085

NM_000532.5(PCCB):c.1172T>G (p.Phe391Cys) SNV
Germline
Chr3:136326884 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002948401

NM_000282.4(PCCA):c.1209+2T>G SNV
Germline
Chr13:100301605 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002947973

NM_000282.4(PCCA):c.1763C>A (p.Ser588Ter) SNV
Germline
Chr13:100425649 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002982607

NM_000282.4(PCCA):c.914+1G>A SNV
Germline
Chr13:100268784 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003009355

NM_000532.5(PCCB):c.1008T>G (p.Tyr336Ter) SNV
Germline
Chr3:136316982 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV002995896

NM_000532.5(PCCB):c.847C>T (p.Gln283Ter) SNV
Germline
Chr3:136298035 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003010333

NM_000282.4(PCCA):c.2040+2T>G SNV
Germline
Chr13:100515569 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003032547

NM_000532.5(PCCB):c.372+1G>A SNV
Germline
Chr3:136256624 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003045260

NM_000282.4(PCCA):c.638-1G>A SNV
Germline
Chr13:100257594 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003019975

NM_000282.4(PCCA):c.300+2T>G SNV
Germline
Chr13:100112063 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003027630

NM_000282.4(PCCA):c.317C>A (p.Ala106Glu) SNV
Germline
Chr13:100154995 Pathogenic/Likely pathogenic Condition: not provided
Propionic acidemia
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003120419RCV003479500

NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp) SNV
Germline
Chr3:136327647 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications

2 SubmittersRCV003131883

NM_000532.5(PCCB):c.1379T>C (p.Ile460Thr) SNV
Germline
Chr3:136327713 Conflicting classifications of pathogenicity PCCB-related disorder
Propionic acidemia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003414264RCV004572967

NM_000282.4(PCCA):c.2002G>T (p.Gly668Ter) SNV
Unknown
Chr13:100515529 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476637

NM_000282.4(PCCA):c.820-1G>T SNV
Unknown
Chr13:100268688 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476638

NM_000282.4(PCCA):c.734C>A (p.Ser245Ter) SNV
Germline
Chr13:100262746 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003476639

NM_000282.4(PCCA):c.1065+1G>A SNV
Germline
Chr13:100273347 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003476641

NM_000282.4(PCCA):c.106-2A>G SNV
Unknown
Chr13:100102881 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476642

NM_000282.4(PCCA):c.1349C>G (p.Ser450Ter) SNV
Unknown
Chr13:100307256 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476644

NM_000282.4(PCCA):c.716+2T>C SNV
Unknown
Chr13:100257675 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476645

NM_000282.4(PCCA):c.2119-1G>C SNV
Unknown
Chr13:100530097 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476646

NM_000282.4(PCCA):c.889C>T (p.Gln297Ter) SNV
Unknown
Chr13:100268758 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476647

NM_000282.4(PCCA):c.414+1G>C SNV
Unknown
Chr13:100155093 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476648

NM_000282.4(PCCA):c.955C>T (p.Gln319Ter) SNV
Unknown
Chr13:100273236 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476649

NM_000282.4(PCCA):c.1899+1G>T SNV
Unknown
Chr13:100449306 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476650

NM_000282.4(PCCA):c.870C>A (p.Cys290Ter) SNV
Unknown
Chr13:100268739 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476653

NM_000282.4(PCCA):c.105+1G>C SNV
Unknown
Chr13:100089226 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476656

NM_000282.4(PCCA):c.415-1G>C SNV
Unknown
Chr13:100157286 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476658

NM_000282.4(PCCA):c.2086C>T (p.Gln696Ter) SNV
Unknown
Chr13:100527720 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476659

NM_000282.4(PCCA):c.1541-1G>C SNV
Unknown
Chr13:100340156 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476660

NM_000282.4(PCCA):c.699G>A (p.Trp233Ter) SNV
Unknown
Chr13:100257656 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003476661

NM_000532.5(PCCB):c.1199-1G>A SNV
Unknown
Chr3:136327154 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003463227

NM_000532.5(PCCB):c.543+2T>G SNV
Unknown
Chr3:136262067 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003463229

NM_000532.5(PCCB):c.494G>C (p.Arg165Pro) SNV
Germline
Chr3:136262016 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003463230

NM_000532.5(PCCB):c.415C>T (p.Gln139Ter) SNV
Germline
Chr3:136260521 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003463231

NM_000532.5(PCCB):c.184-2A>C SNV
Unknown
Chr3:136255854 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003471657

NM_000532.5(PCCB):c.183+5G>T SNV
Unknown
Chr3:136250563 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003471658

NM_000532.5(PCCB):c.499C>T (p.Gln167Ter) SNV
Germline
Chr3:136262021 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003471659

NM_000532.5(PCCB):c.1215C>G (p.Tyr405Ter) SNV
Unknown
Chr3:136327171 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003463233

NM_000532.5(PCCB):c.1399-1G>C SNV
Unknown
Chr3:136328757 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003463234

NM_000532.5(PCCB):c.884+1G>A SNV
Unknown
Chr3:136298073 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003471660

NM_000532.5(PCCB):c.1145A>T (p.Asp382Val) SNV
Germline
Chr3:136326857 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003512332

NM_000282.4(PCCA):c.716+1G>C SNV
Germline
Chr13:100257674 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003512425

NM_000282.4(PCCA):c.1132A>T (p.Lys378Ter) SNV
Germline
Chr13:100301526 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003513062

NM_000282.4(PCCA):c.322G>T (p.Glu108Ter) SNV
Germline
Chr13:100155000 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003512933

NM_000532.5(PCCB):c.484G>A (p.Gly162Arg) SNV
Germline
Chr3:136262006 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003513593

NM_000282.4(PCCA):c.1285-2A>G SNV
Germline
Chr13:100307190 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003511550

NM_000532.5(PCCB):c.2T>G (p.Met1Arg) SNV
Germline
Chr3:136250377 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003511578

NM_000532.5(PCCB):c.543+1G>C SNV
Germline
Chr3:136262066 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003511741

NM_000282.4(PCCA):c.415-1G>A SNV
Germline
Chr13:100157286 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003511811

NM_000532.5(PCCB):c.427A>T (p.Lys143Ter) SNV
Germline
Chr3:136260533 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003511807

NM_000532.5(PCCB):c.461C>T (p.Pro154Leu) SNV
Germline
Chr3:136261983 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003511943

NM_000532.5(PCCB):c.733G>T (p.Gly245Cys) SNV
Germline
Chr3:136293834 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003512615

NM_000282.4(PCCA):c.1845+2T>G SNV
Germline
Chr13:100425733 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003512644

NM_000282.4(PCCA):c.1746+2T>C SNV
Germline
Chr13:100368576 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003512596

NM_000532.5(PCCB):c.1398+1G>C SNV
Germline
Chr3:136327733 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003624696

NM_000532.5(PCCB):c.183+1G>C SNV
Germline
Chr3:136250559 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003624735

NM_000282.4(PCCA):c.638-2A>G SNV
Germline
Chr13:100257593 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003624794

NM_000282.4(PCCA):c.1430-2A>T SNV
Germline
Chr13:100330559 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003625178

NM_000282.4(PCCA):c.819+1G>A SNV
Germline
Chr13:100262832 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003625418

NM_000532.5(PCCB):c.1300-1G>C SNV
Germline
Chr3:136327633 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003625405

NM_000532.5(PCCB):c.1094G>A (p.Cys365Tyr) SNV
Germline
Chr3:136326806 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003625706

NM_000282.4(PCCA):c.1902C>G (p.Tyr634Ter) SNV
Germline
Chr13:100515429 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003625826

NM_000532.5(PCCB):c.1300-1G>A SNV
Germline
Chr3:136327633 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003623996

NM_000532.5(PCCB):c.439C>T (p.Gln147Ter) SNV
Germline
Chr3:136261961 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003623956

NM_000532.5(PCCB):c.614T>G (p.Val205Gly) SNV
Germline
Chr3:136283907 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003624192

NM_000282.4(PCCA):c.1210-1G>A SNV
Germline
Chr13:100302923 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003624257

NM_000532.5(PCCB):c.1310G>A (p.Gly437Asp) SNV
Germline
Chr3:136327644 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003624330

NM_000532.5(PCCB):c.737G>A (p.Gly246Asp) SNV
Germline
Chr3:136293838 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003625011

NM_000532.5(PCCB):c.1309G>T (p.Gly437Cys) SNV
Germline
Chr3:136327643 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003625042

NM_000532.5(PCCB):c.304-2A>G SNV
Germline
Chr3:136256553 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003828771

NM_000532.5(PCCB):c.1398+1G>A SNV
Germline
Chr3:136327733 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003842880

NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly) SNV
Germline
Chr3:136326838 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003848196

NM_000282.4(PCCA):c.496C>A (p.Pro166Thr) SNV
Germline
Chr13:100209359 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003990533

NM_000532.5(PCCB):c.1163T>A (p.Leu388His) SNV
Germline
Chr3:136326875 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003990676

NM_000532.5(PCCB):c.1174G>T (p.Val392Phe) SNV
Germline
Chr3:136326886 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV003989341

NM_000532.5(PCCB):c.373-1G>T SNV
Germline
Chr3:136260478 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV004547404

NM_000282.4(PCCA):c.1306C>T (p.Gln436Ter) SNV
Unknown
Chr13:100307213 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV004574446

NM_000282.4(PCCA):c.414+5G>A SNV
Unknown
Chr13:100155097 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV004574450

NM_000282.4(PCCA):c.1524T>G (p.Tyr508Ter) SNV
Unknown
Chr13:100330655 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV004574452

NM_000282.4(PCCA):c.819+1G>T SNV
Unknown
Chr13:100262832 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV004574453

NM_000532.5(PCCB):c.1091-2A>G SNV
Unknown
Chr3:136326801 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV004574460

NM_000532.5(PCCB):c.925G>T (p.Glu309Ter) SNV
Unknown
Chr3:136301070 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV004574462