Total 645 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
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA343136 rs_121964959

13 SubmittersRCV000012791RCV004589508

NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) SNV
Germline
Chr3:136262024 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

11 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

11 SubmittersRCV000012798

NM_000532.5(PCCB):c.654+462A>G SNV
Germline
Chr3:136284409 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA913187449 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

5 SubmittersRCV000012804

NM_000282.4(PCCA):c.1285-1416A>G SNV
Germline
Chr13:100305776 Pathogenic Propionic acidemia No Assertion Criteria Provided
CA612003722 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
Thyroid cancer, nonmedullary, 1
Melanoma
Hepatocellular carcinoma
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma
Thymoma
Nonpapillary renal cell carcinoma
Lung cancer
Clear cell carcinoma of kidney
Uveal melanoma
Colorectal cancer
Gastric cancer
Uterine carcinosarcoma
Adrenocortical carcinoma, hereditary
Cervical cancer
Criteria Provided
Conflicting Classifications
CA292687 rs_61749895

11 SubmittersRCV000032108RCV000127322RCV002262596RCV005888856RCV005888857RCV005888844RCV005888845RCV005888853RCV005888855RCV005888846RCV005888858RCV005888849RCV005888850RCV005888851RCV005888852RCV005888854RCV005888847RCV005888848

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

5 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

13 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

9 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
PCCB-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA221097 rs_202247823

11 SubmittersRCV000032130RCV000790698RCV004752730

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

7 SubmittersRCV000079092RCV002281914RCV003415845

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

3 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 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
Condition: not provided
not specified
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA278515 rs_374722096

13 SubmittersRCV000179767RCV000413250RCV000507200RCV003372636

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

12 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

11 SubmittersRCV000186089RCV000441240RCV001083724RCV003917704

NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) SNV
Germline
Chr3:136283856 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA312831 rs_796052024

4 SubmittersRCV000669412

NM_000532.5(PCCB):c.611C>T (p.Ala204Val) SNV
Germline
Chr3:136283904 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA312833 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
CA312821 rs_1553778865

5 SubmittersRCV001293409

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

10 SubmittersRCV000186088RCV000341685RCV002517828

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.437T>C (p.Leu146Pro) SNV
Germline
Chr13:100157309 Conflicting classifications of pathogenicity Condition: not provided
not specified
Propionic acidemia
Criteria Provided
Conflicting Classifications
CA312810 rs_774457925

3 SubmittersRCV000186079RCV001193473RCV005055686

NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) SNV
Germline
Chr13:100449297 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA312816 rs_796052018

2 SubmittersRCV000664489

NM_000532.5(PCCB):c.183+5G>A SNV
Germline
Chr3:136250563 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA10575808 rs_879253813

3 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 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 Propionic acidemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2632235 rs_749908889

9 SubmittersRCV000235647RCV004701265

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/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA7033231 rs_760387660

2 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
Single Submitter
CA10575826 rs_879253802

2 SubmittersRCV000235932

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

3 SubmittersRCV000236908

NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) SNV
Germline
Chr13:100268747 Conflicting classifications of pathogenicity Propionic acidemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10575828 rs_879253805

5 SubmittersRCV000236234RCV002515491

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

7 SubmittersRCV000235940RCV003884401

NM_000282.4(PCCA):c.2040G>A (p.Ala680=) SNV
Germline
Chr13:100515567 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA7033876 rs_369982920

9 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

6 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
Malignant tumor of urinary bladder
Cervical cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA7033564 rs_752761437

10 SubmittersRCV000382350RCV000670117RCV003409392RCV005895469RCV005895470

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

8 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
Hyperammonemia
Global developmental delay
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

6 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 Pathogenic/Likely pathogenic Propionic acidemia
Condition: not provided
PCCB-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA2631888 rs_780837200

6 SubmittersRCV000321726RCV002504151RCV003418067

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

5 SubmittersRCV000336865RCV000727577RCV004955449

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

8 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
Thyroid cancer, nonmedullary, 1
Familial cancer of breast
Uterine corpus endometrial carcinoma
Criteria Provided
Conflicting Classifications
CA2631904 rs_142730126

8 SubmittersRCV000281740RCV000439688RCV001705512RCV005897604RCV005897603RCV005897605

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
Condition: not provided
PCCA-related disorder
Criteria Provided
Conflicting Classifications
CA7033935 rs_150352833

9 SubmittersRCV000363413RCV001705465RCV003977916

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
not specified
Criteria Provided
Conflicting Classifications
CA7033551 rs_41281120

8 SubmittersRCV000405157RCV001705464RCV006441686

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

6 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
Nonpapillary renal cell carcinoma
Criteria Provided
Conflicting Classifications
CA7033719 rs_112237881

6 SubmittersRCV000493022RCV001083571RCV003330725RCV003972818RCV005899781

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

3 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

7 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

7 SubmittersRCV000525403RCV001086663RCV003915506

NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) SNV
Germline
Chr13:100262794 Likely pathogenic Propionic acidemia
PCCA-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA388694346 rs_1169861687

7 SubmittersRCV000538185RCV003942761

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

5 SubmittersRCV000551482RCV003403270RCV005901335

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

5 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

9 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
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2631758 rs_754752068

6 SubmittersRCV000634872RCV005870712

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

7 SubmittersRCV000634873RCV001637106RCV003928063RCV005900152RCV005900153

NM_000532.5(PCCB):c.184-2A>G SNV
Unknown
Chr3:136255854 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354738349 rs_1553774015

2 SubmittersRCV000667421

NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) SNV
Germline
Chr3:136256582 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA2631688 rs_753981900

5 SubmittersRCV000668811

NM_000532.5(PCCB):c.763+1G>A SNV
Unknown
Chr3:136293865 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
CA354643742 rs_1553778912

1 SubmittersRCV000671247

NM_000532.5(PCCB):c.884+1G>C SNV
Unknown
Chr3:136298073 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
CA354645003 rs_1553779458

1 SubmittersRCV000673821

NM_000532.5(PCCB):c.885-2A>G SNV
Unknown
Chr3:136301028 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
CA354645590 rs_1553780163

1 SubmittersRCV000673046

NM_000532.5(PCCB):c.966+1G>T SNV
Unknown
Chr3:136301112 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354645762 rs_1385850128

2 SubmittersRCV000670425

NM_000532.5(PCCB):c.967-2A>C SNV
Germline
Chr3:136316939 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA354647156 rs_1553782747

3 SubmittersRCV000674427

NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) SNV
Germline
Chr3:136326839 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA354648532 rs_142982097

3 SubmittersRCV000674584

NM_000532.5(PCCB):c.1300-2A>C SNV
Unknown
Chr3:136327632 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
CA354649264 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
CA354737829 rs_1292452485

3 SubmittersRCV000672023

NM_000532.5(PCCB):c.429+1G>A SNV
Germline
Chr3:136260536 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354739424 rs_1317017233

2 SubmittersRCV000673514

NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) SNV
Germline
Chr3:136262016 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA354739684 rs_1304714042

5 SubmittersRCV000666130

NM_000532.5(PCCB):c.544-2A>G SNV
Germline
Chr3:136283835 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA2631777 rs_752377212

4 SubmittersRCV000672362

NM_000532.5(PCCB):c.654+1G>C SNV
Unknown
Chr3:136283948 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
CA354641989 rs_1553777590

1 SubmittersRCV000673118

NM_000532.5(PCCB):c.1127G>A (p.Arg376His) SNV
Germline
Chr3:136326839 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2632025 rs_142982097

7 SubmittersRCV000674433RCV005626148

NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter) SNV
Germline
Chr3:136328788 Pathogenic/Likely pathogenic Propionic acidemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA354649608 rs_1553784921

4 SubmittersRCV000667545RCV005411532

NM_000532.5(PCCB):c.319G>A (p.Val107Met) SNV
Germline
Chr3:136256570 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA354738674 rs_1553774114

3 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
CA2631784 rs_746102997

5 SubmittersRCV000674578RCV001268006

NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) SNV
Germline
Chr3:136293864 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA354643739 rs_1553778909

4 SubmittersRCV000673510

NM_000532.5(PCCB):c.763+2T>A SNV
Unknown
Chr3:136293866 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354643745 rs_1553778914

2 SubmittersRCV000672128

NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) SNV
Germline
Chr3:136327635 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA2632146 rs_751538672

5 SubmittersRCV000670133

NM_000532.5(PCCB):c.1090+2T>C SNV
Germline
Chr3:136317066 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354647448 rs_1553782779

2 SubmittersRCV000668574

NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) SNV
Germline
Chr3:136327185 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA2632108 rs_778742647

7 SubmittersRCV000673426

NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) SNV
Germline
Chr13:100257616 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388694077 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
CA388694670 rs_367615795

6 SubmittersRCV000667400RCV002530710

NM_000282.4(PCCA):c.1540+2T>A SNV
Germline
Chr13:100330673 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388696282 rs_1555422449

2 SubmittersRCV000669915

NM_000282.4(PCCA):c.2040+1G>T SNV
Unknown
Chr13:100515568 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
CA388640444 rs_1555327732

1 SubmittersRCV000674408

NM_000282.4(PCCA):c.183+2T>C SNV
Germline
Chr13:100102962 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388692966 rs_1555342593

3 SubmittersRCV000667341

NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) SNV
Germline
Chr13:100111886 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA7033140 rs_141371306

7 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
CA612003058 rs_1467680142

5 SubmittersRCV000668869RCV002275128

NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) SNV
Germline
Chr13:100330561 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA388696047 rs_776355907

2 SubmittersRCV000664973

NM_000282.4(PCCA):c.1746G>A (p.Ser582=) SNV
Germline
Chr13:100368574 Pathogenic/Likely pathogenic Propionic acidemia
PCCA-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA7033757 rs_192171304

6 SubmittersRCV000672493RCV003892521

NM_000282.4(PCCA):c.231+1G>C SNV
Germline
Chr13:100111889 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA255965887 rs_972937270

5 SubmittersRCV000664756

NM_000282.4(PCCA):c.1846-1G>A SNV
Germline
Chr13:100449251 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388695916 rs_1555298451

2 SubmittersRCV000673557

NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) SNV
Germline
Chr13:100449261 Pathogenic Propionic acidemia
PCCA-related disorder
Condition: not provided
Uterine corpus endometrial carcinoma
Criteria Provided
Multiple Submitters
No Conflicts
CA388695938 rs_1194679272

7 SubmittersRCV000669487RCV003928159RCV005641775RCV005901469

NM_000282.4(PCCA):c.2T>C (p.Met1Thr) SNV
Germline
Chr13:100089122 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Criteria Provided
Conflicting Classifications
CA7033055 rs_372093520

5 SubmittersRCV000673344RCV003317333

NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) SNV
Germline
Chr13:100302982 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388695538 rs_1443858896

4 SubmittersRCV000669921

NM_000282.4(PCCA):c.1540+1G>C SNV
Germline
Chr13:100330672 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA7033693 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
CA255366731 rs_999241357

3 SubmittersRCV000674908RCV004526009

NM_000282.4(PCCA):c.2041-2A>G SNV
Germline
Chr13:100527673 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA7033893 rs_776281864

4 SubmittersRCV000667861

NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter) SNV
Germline
Chr13:100527690 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388640607 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
CA354739611 rs_1559998737

3 SubmittersRCV000690991RCV003403602

NM_000532.5(PCCB):c.791A>G (p.Asp264Gly) SNV
Germline
Chr3:136297979 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Criteria Provided
Conflicting Classifications
CA354644489 rs_1560017781

2 SubmittersRCV000705128RCV004800552

NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) SNV
Germline
Chr3:136301056 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2631934 rs_147538201

8 SubmittersRCV000686636RCV003222100RCV004026241

NM_000282.4(PCCA):c.819+9A>G SNV
Germline
Chr13:100262840 Conflicting classifications of pathogenicity Propionic acidemia
Uterine corpus endometrial carcinoma
Criteria Provided
Conflicting Classifications
CA7033385 rs_372739944

5 SubmittersRCV000689202RCV005901647

NM_000282.4(PCCA):c.202G>A (p.Val68Ile) SNV
Germline
Chr13:100111859 Conflicting classifications of pathogenicity Propionic acidemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7033136 rs_768750176

3 SubmittersRCV000688231RCV004957996

NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) SNV
Germline
Chr13:100111887 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388693074 rs_1387778734

3 SubmittersRCV000778383

NM_000282.4(PCCA):c.415-2A>C SNV
Germline
Chr13:100157285 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA7033223 rs_746286209

5 SubmittersRCV000780576

NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) SNV
Germline
Chr3:136301034 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA2631926 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
CA354738762 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
CA354739354 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
CA354643615 rs_1021206121

1 SubmittersRCV000790499

NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) SNV
Germline
Chr3:136293834 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA2631842 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
CA354644543 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
CA354649114 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
CA354649356 rs_1576360934

1 SubmittersRCV000790506

NM_000282.4(PCCA):c.2T>A (p.Met1Lys) SNV
Germline
Chr13:100089122 Pathogenic Propionic acidemia No Assertion Criteria Provided
CA388692577 rs_372093520

1 SubmittersRCV000790481

NM_000282.4(PCCA):c.43G>T (p.Gly15Ter) SNV
Germline
Chr13:100089163 Pathogenic Propionic acidemia No Assertion Criteria Provided
CA388692660 rs_1593996636

1 SubmittersRCV000790482

NM_000282.4(PCCA):c.524G>A (p.Gly175Asp) SNV
Germline
Chr13:100209387 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388693366 rs_1421021643

2 SubmittersRCV000790485

NM_000282.4(PCCA):c.683G>T (p.Gly228Val) SNV
Germline
Chr13:100257640 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
CA388694125 rs_1594961620

1 SubmittersRCV000790486

NM_000282.4(PCCA):c.734C>G (p.Ser245Ter) SNV
Germline
Chr13:100262746 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388694250 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
CA388694398 rs_368047060

1 SubmittersRCV000790488

NM_000282.4(PCCA):c.872C>T (p.Ser291Leu) SNV
Germline
Chr13:100268741 Likely pathogenic Propionic acidemia No Assertion Criteria Provided
CA388694564 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
CA388695094 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
CA388640653 rs_1594160545

1 SubmittersRCV000790495

NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) SNV
Germline
Chr13:100257645 Pathogenic/Likely pathogenic Propionic acidemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA7033331 rs_778530330

5 SubmittersRCV000800267RCV004588263

NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) SNV
Germline
Chr13:100301587 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA7033527 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
CA388695371 rs_1234167788

2 SubmittersRCV000820501

NM_000282.4(PCCA):c.2041-1G>T SNV
Germline
Chr13:100527674 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388640570 rs_1367867218

3 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
CA2631783 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
CA2631601 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
CA2631870 rs_141615209

6 SubmittersRCV000874732RCV001192545RCV001547426

NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) SNV
Germline
Chr3:136329947 Conflicting classifications of pathogenicity Propionic acidemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2632236 rs_577625696

4 SubmittersRCV000872035RCV004958213

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
CA7033815 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
CA2631776 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
Hypertrophic cardiomyopathy
Criteria Provided
Conflicting Classifications
CA2632153 rs_145135400

4 SubmittersRCV000973820RCV001563448RCV005626279

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
CA7033456 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
CA7033461 rs_373115130

4 SubmittersRCV000911741RCV002065812

NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter) SNV
Unknown
Chr3:136327163 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA2632092 rs_768935968

1 SubmittersRCV000987339

NM_000282.4(PCCA):c.1845+1G>A SNV
Germline
Chr13:100425732 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388696931 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
CA354643711 rs_1933813724

2 SubmittersRCV001055500

NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser) SNV
Germline
Chr3:136327643 Pathogenic/Likely pathogenic Propionic acidemia
PCCB-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA354649286 rs_1349202366

7 SubmittersRCV001037425RCV003413821

NM_000532.5(PCCB):c.1535G>A (p.Arg512His) SNV
Germline
Chr3:136329941 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA2632234 rs_764697873

5 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
CA388693888 rs_2053984648

3 SubmittersRCV001054472

NM_000282.4(PCCA):c.556A>T (p.Lys186Ter) SNV
Germline
Chr13:100209419 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388693440 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
CA7033602 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
CA388694204 rs_2062611307

3 SubmittersRCV001054532

NM_000282.4(PCCA):c.1065+1G>C SNV
Germline
Chr13:100273347 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388694999 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
CA388694399 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
CA7033373 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
CA7033853 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
CA7033321 rs_764316702

3 SubmittersRCV001115046RCV002556256

NM_000532.5(PCCB):c.884G>C (p.Ser295Thr) SNV
Germline
Chr3:136298072 Conflicting classifications of pathogenicity not specified
Propionic acidemia
Criteria Provided
Conflicting Classifications
CA2631905 rs_752029455

4 SubmittersRCV002265954RCV001144196

NM_000532.5(PCCB):c.654+14G>T SNV
Germline
Chr3:136283961 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA546468418 rs_1457950469

2 SubmittersRCV001253909

NM_000532.5(PCCB):c.1499-1G>C SNV
Germline
Chr3:136329904 Pathogenic/Likely pathogenic Propionic acidemia
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA354649894 rs_1935478339

2 SubmittersRCV001192546RCV004960516

NM_000532.5(PCCB):c.505G>T (p.Gly169Ter) SNV
Germline
Chr3:136262027 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354739897 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
CA2631997 rs_770341883

4 SubmittersRCV001208742

NM_000282.4(PCCA):c.1181G>A (p.Trp394Ter) SNV
Germline
Chr13:100301575 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388695339 rs_1165198558

1 SubmittersRCV001203915

NM_000282.4(PCCA):c.637+1G>A SNV
Germline
Chr13:100235879 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388694019 rs_1265911468

1 SubmittersRCV001202303

NM_000282.4(PCCA):c.820-1G>A SNV
Germline
Chr13:100268688 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388694443 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
not specified
Criteria Provided
Conflicting Classifications
CA354649951 rs_1353542774

6 SubmittersRCV001247013RCV002568671RCV005057151

NM_000532.5(PCCB):c.1198+1G>A SNV
Germline
Chr3:136326911 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354648896 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
CA7033096 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
CA354650298 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
CA388640973 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
CA386304179 rs_767453024

3 SubmittersRCV001269068RCV004526825RCV004545164

NM_000282.4(PCCA):c.468+1G>A SNV
Germline
Chr13:100157341 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388693928 rs_766139678

1 SubmittersRCV001293405

NM_000282.4(PCCA):c.1187T>G (p.Val396Gly) SNV
Germline
Chr13:100301581 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388695354 rs_1555411216

1 SubmittersRCV001293406

NM_000532.5(PCCB):c.914T>G (p.Ile305Ser) SNV
Germline
Chr3:136301059 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2631937 rs_144907014

4 SubmittersRCV001319121RCV004793419

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
CA2631689 rs_757534748

3 SubmittersRCV001352317RCV002547553

NM_000532.5(PCCB):c.449C>T (p.Thr150Met) SNV
Germline
Chr3:136261971 Conflicting classifications of pathogenicity Propionic acidemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA84266988 rs_372770908

5 SubmittersRCV001346006RCV003169680

NM_000532.5(PCCB):c.2T>C (p.Met1Thr) SNV
Germline
Chr3:136250377 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354737808 rs_398123462

1 SubmittersRCV001378948

NM_000282.4(PCCA):c.183+1G>A SNV
Germline
Chr13:100102961 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA7033109 rs_757540625

4 SubmittersRCV001377891

NM_000282.4(PCCA):c.232-2A>G SNV
Germline
Chr13:100111991 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388693082 rs_747968405

1 SubmittersRCV001379088

NM_000282.4(PCCA):c.232-2A>T SNV
Germline
Chr13:100111991 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA7033156 rs_747968405

1 SubmittersRCV001377595

NM_000282.4(PCCA):c.637+2T>A SNV
Germline
Chr13:100235880 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388694022 rs_2152522245

1 SubmittersRCV001379930

NM_000282.4(PCCA):c.1846-1G>T SNV
Germline
Chr13:100449251 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388695918 rs_1555298451

1 SubmittersRCV001378081

NM_000532.5(PCCB):c.600T>A (p.Cys200Ter) SNV
Germline
Chr3:136283893 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA2631793 rs_759098964

1 SubmittersRCV001388863

NM_000532.5(PCCB):c.737G>T (p.Gly246Val) SNV
Germline
Chr3:136293838 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354643688 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
CA354648616 rs_2108237867

2 SubmittersRCV001384626

NM_000282.4(PCCA):c.872C>G (p.Ser291Ter) SNV
Germline
Chr13:100268741 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388694563 rs_1595033018

1 SubmittersRCV001385418

NM_000282.4(PCCA):c.1189G>T (p.Glu397Ter) SNV
Germline
Chr13:100301583 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388695357 rs_1295357399

2 SubmittersRCV001383530

NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter) SNV
Germline
Chr13:100307219 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388695640 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
CA388696337 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
CA7033862 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
CA2632019 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
CA388696901 rs_2152894046

3 SubmittersRCV001733363

NM_000532.5(PCCB):c.430-1G>A SNV
Germline
Chr3:136261951 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354739494 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
CA255970804 rs_936088423

2 SubmittersRCV001782572

NM_000282.4(PCCA):c.1900-2A>G SNV
Germline
Chr13:100515425 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388639909 rs_2152998141

3 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
CA354645718 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
CA388698232 rs_2152811823

2 SubmittersRCV001805737

NM_000532.5(PCCB):c.682C>G (p.Pro228Ala) SNV
Germline
Chr3:136293783 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA83793889 rs_1052979420

4 SubmittersRCV001808255RCV005419217RCV005409838

NM_000532.5(PCCB):c.836C>G (p.Pro279Arg) SNV
Germline
Chr3:136298024 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354644761 rs_780837200

1 SubmittersRCV002012814

NM_000282.4(PCCA):c.1430-1G>A SNV
Germline
Chr13:100330560 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388696043 rs_2152733805

1 SubmittersRCV001990336

NM_000532.5(PCCB):c.334G>A (p.Gly112Ser) SNV
Germline
Chr3:136256585 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Criteria Provided
Conflicting Classifications
CA354738697 rs_1941676220

2 SubmittersRCV001969147RCV005406241

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
CA2631843 rs_778242891

2 SubmittersRCV001965438RCV003401934

NM_000282.4(PCCA):c.1456C>T (p.Arg486Ter) SNV
Germline
Chr13:100330587 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388696101 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
CA2631879 rs_375999824

2 SubmittersRCV001933382

NM_000532.5(PCCB):c.1088C>T (p.Ser363Leu) SNV
Germline
Chr3:136317062 Conflicting classifications of pathogenicity Propionic acidemia Criteria Provided
Conflicting Classifications
CA354647440 rs_2108226720

3 SubmittersRCV002016648

NM_000282.4(PCCA):c.415-2A>G SNV
Germline
Chr13:100157285 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388693806 rs_746286209

3 SubmittersRCV001875421

NM_000532.5(PCCB):c.303+1G>T SNV
Germline
Chr3:136255976 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354738626 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
CA7033874 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
CA2631598 rs_757134877

2 SubmittersRCV002045334RCV002657689

NM_000532.5(PCCB):c.543+1G>A SNV
Germline
Chr3:136262066 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354740022 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
CA388640140 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
CA354739682 rs_879253815

1 SubmittersRCV001986014

NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys) SNV
Germline
Chr3:136326838 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA83819667 rs_200306164

2 SubmittersRCV001993127

NM_000532.5(PCCB):c.1519C>T (p.Gln507Ter) SNV
Germline
Chr3:136329925 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA354649974 rs_2108241656

2 SubmittersRCV002007145

NM_000532.5(PCCB):c.1091-1G>A SNV
Germline
Chr3:136326802 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354648354 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
CA388695374 rs_1301904623

1 SubmittersRCV001983721

NM_000282.4(PCCA):c.689G>A (p.Arg230His) SNV
Germline
Chr13:100257646 Likely pathogenic Propionic acidemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA7033332 rs_747943045

2 SubmittersRCV002011594RCV005433605

NM_000282.4(PCCA):c.414+1G>T SNV
Germline
Chr13:100155093 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388693802 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
CA354650233 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
CA388693048 rs_2152278559

2 SubmittersRCV001953433

NM_000282.4(PCCA):c.127C>T (p.Gln43Ter) SNV
Germline
Chr13:100102904 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388692842 rs_2047400320

1 SubmittersRCV001877608

NM_000282.4(PCCA):c.600+1G>A SNV
Germline
Chr13:100209464 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA255976845 rs_879253802

4 SubmittersRCV001864042

NM_000282.4(PCCA):c.1746+1G>A SNV
Germline
Chr13:100368575 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388698364 rs_2075369142

3 SubmittersRCV001963180

NM_000532.5(PCCB):c.373-1G>C SNV
Germline
Chr3:136260478 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354739223 rs_2108144374

1 SubmittersRCV002006356

NM_000532.5(PCCB):c.614T>A (p.Val205Asp) SNV
Germline
Chr3:136283907 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA354641903 rs_1303129574

2 SubmittersRCV001975047

NM_000532.5(PCCB):c.991G>T (p.Glu331Ter) SNV
Germline
Chr3:136316965 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA354647233 rs_2108226567

2 SubmittersRCV001956511

NM_000282.4(PCCA):c.1196G>A (p.Arg399Gln) SNV
Germline
Chr13:100301590 Pathogenic/Likely pathogenic Propionic acidemia
Gastric cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA388695372 rs_1301904623

4 SubmittersRCV001977302RCV005925425

NM_000532.5(PCCB):c.967-14A>G SNV
Germline
Chr3:136316927 Conflicting classifications of pathogenicity Propionic acidemia
PCCB-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA83814017 rs_1011978513

3 SubmittersRCV001892524RCV003416534RCV005642656

NM_000532.5(PCCB):c.632C>G (p.Thr211Arg) SNV
Germline
Chr3:136283925 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354641938 rs_2108182082

1 SubmittersRCV001978640

NM_000532.5(PCCB):c.941A>G (p.Tyr314Cys) SNV
Germline
Chr3:136301086 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2631943 rs_148578333

3 SubmittersRCV002108841RCV005412376

NM_000532.5(PCCB):c.787A>G (p.Asn263Asp) SNV
Germline
Chr3:136297975 Conflicting classifications of pathogenicity Propionic acidemia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2631872 rs_529945350

2 SubmittersRCV002191067RCV005382396

NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg) SNV
Germline
Chr3:136326908 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA2632034 rs_753037539

3 SubmittersRCV002251221

NM_000532.5(PCCB):c.593G>A (p.Gly198Asp) SNV
Germline
Chr3:136283886 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA2631790 rs_762354873

2 SubmittersRCV002281827

NM_000532.5(PCCB):c.1499-2A>G SNV
Germline
Chr3:136329903 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354649888 rs_2529980257

1 SubmittersRCV002308622

NM_000282.4(PCCA):c.493G>T (p.Gly165Ter) SNV
Unknown
Chr13:100209356 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388693302 rs_2547726543

1 SubmittersRCV002307856

NM_000532.5(PCCB):c.934A>T (p.Lys312Ter) SNV
Unknown
Chr3:136301079 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354645690 rs_2529894121

1 SubmittersRCV002308182

NM_000532.5(PCCB):c.923T>A (p.Leu308Ter) SNV
Unknown
Chr3:136301068 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354645664 rs_2529894056

1 SubmittersRCV002309092

NM_000532.5(PCCB):c.1095C>A (p.Cys365Ter) SNV
Unknown
Chr3:136326807 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354648393 rs_2529970250

1 SubmittersRCV002309375

NM_000282.4(PCCA):c.904G>T (p.Glu302Ter) SNV
Unknown
Chr13:100268773 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388694637 rs_775686458

1 SubmittersRCV002310207

NM_000282.4(PCCA):c.959C>A (p.Ala320Asp) SNV
Germline
Chr13:100273240 Pathogenic Propionic acidemia No Assertion Criteria Provided
CA388694762 rs_1245721727

1 SubmittersRCV002466762

NM_000282.4(PCCA):c.877C>G (p.Gln293Glu) SNV
Germline
Chr13:100268746 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Criteria Provided
Conflicting Classifications
CA388694573 rs_2547957968

2 SubmittersRCV003062605RCV005433305

NM_000532.5(PCCB):c.1199-1G>C SNV
Germline
Chr3:136327154 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354648966 rs_2529971938

1 SubmittersRCV003075163

NM_000532.5(PCCB):c.748C>T (p.His250Tyr) SNV
Germline
Chr3:136293849 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354643707 rs_2529866093

1 SubmittersRCV003061546

NM_000282.4(PCCA):c.1267C>T (p.Pro423Ser) SNV
Germline
Chr13:100302981 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Criteria Provided
Conflicting Classifications
CA7033559 rs_754755038

2 SubmittersRCV003090307RCV004801284

NM_000282.4(PCCA):c.1117A>G (p.Met373Val) SNV
Germline
Chr13:100301511 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388695204 rs_2066053673

2 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
CA7033105 rs_753195550

2 SubmittersRCV002611714RCV004070521

NM_000282.4(PCCA):c.1101G>A (p.Leu367=) SNV
Germline
Chr13:100301495 Conflicting classifications of pathogenicity Propionic acidemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7033509 rs_186756601

2 SubmittersRCV002640627RCV005626751

NM_000532.5(PCCB):c.1199-2A>G SNV
Germline
Chr3:136327153 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA354648962 rs_1935349786

2 SubmittersRCV002651748

NM_000532.5(PCCB):c.1253C>T (p.Ala418Val) SNV
Germline
Chr3:136327209 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Criteria Provided
Conflicting Classifications
CA354649160 rs_770279302

3 SubmittersRCV002651750RCV004690377

NM_000532.5(PCCB):c.1313C>T (p.Ala438Val) SNV
Germline
Chr3:136327647 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA354649295 rs_2529974111

2 SubmittersRCV002651751

NM_000532.5(PCCB):c.1514T>A (p.Ile505Asn) SNV
Germline
Chr3:136329920 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354649955 rs_1353542774

1 SubmittersRCV002664322

NM_000282.4(PCCA):c.468+1G>C SNV
Germline
Chr13:100157341 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA7033232 rs_766139678

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
CA354648766 rs_1189355322

2 SubmittersRCV002646825

NM_000282.4(PCCA):c.1408C>G (p.Leu470Val) SNV
Germline
Chr13:100309887 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388695857 rs_1566911871

1 SubmittersRCV002790703

NM_000532.5(PCCB):c.1143T>A (p.Cys381Ter) SNV
Germline
Chr3:136326855 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354648602 rs_2529970463

1 SubmittersRCV002852807

NM_000532.5(PCCB):c.304-1G>A SNV
Germline
Chr3:136256554 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354738635 rs_2529750337

1 SubmittersRCV002880913

NM_000532.5(PCCB):c.835C>T (p.Pro279Ser) SNV
Germline
Chr3:136298023 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354644756 rs_2529877601

1 SubmittersRCV002862696

NM_000532.5(PCCB):c.175C>A (p.His59Asn) SNV
Germline
Chr3:136250550 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354738130 rs_147954363

1 SubmittersRCV002858392

NM_000282.4(PCCA):c.468+2T>C SNV
Germline
Chr13:100157342 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388693931 rs_2542895898

1 SubmittersRCV002871506

NM_000532.5(PCCB):c.1465A>T (p.Lys489Ter) SNV
Germline
Chr3:136328824 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354649689 rs_2529977421

1 SubmittersRCV002885338

NM_000282.4(PCCA):c.300+1G>A SNV
Germline
Chr13:100112062 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388693237 rs_2542289588

2 SubmittersRCV002909085

NM_000532.5(PCCB):c.1172T>G (p.Phe391Cys) SNV
Germline
Chr3:136326884 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354648769 rs_1189355322

1 SubmittersRCV002948401

NM_000282.4(PCCA):c.1209+2T>G SNV
Germline
Chr13:100301605 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388695406 rs_1595204045

1 SubmittersRCV002947973

NM_000282.4(PCCA):c.1763C>A (p.Ser588Ter) SNV
Germline
Chr13:100425649 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388696760 rs_532947142

1 SubmittersRCV002982607

NM_000282.4(PCCA):c.914+1G>A SNV
Germline
Chr13:100268784 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388694661 rs_1162998218

2 SubmittersRCV003009355

NM_000532.5(PCCB):c.1008T>G (p.Tyr336Ter) SNV
Germline
Chr3:136316982 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354647268 rs_769437282

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
CA354644822 rs_1934015542

2 SubmittersRCV003010333

NM_000282.4(PCCA):c.2040+2T>G SNV
Germline
Chr13:100515569 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388640446 rs_918806733

1 SubmittersRCV003032547

NM_000532.5(PCCB):c.372+1G>A SNV
Germline
Chr3:136256624 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354738782 rs_2529750602

1 SubmittersRCV003045260

NM_000282.4(PCCA):c.638-1G>A SNV
Germline
Chr13:100257594 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388694029 rs_2547899480

1 SubmittersRCV003019975

NM_000282.4(PCCA):c.300+2T>G SNV
Germline
Chr13:100112063 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388693242 rs_2542289602

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
CA7033190 rs_765468519

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
CA354649293 rs_2529974111

2 SubmittersRCV003131883

NM_000532.5(PCCB):c.773A>G (p.His258Arg) SNV
Germline
Chr3:136297961 Conflicting classifications of pathogenicity not specified
Propionic acidemia
Criteria Provided
Conflicting Classifications
CA354644391 rs_2529877254

2 SubmittersRCV003230926RCV005029948

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
CA354649470 rs_2529974319

3 SubmittersRCV003414264RCV004572967

NM_000282.4(PCCA):c.2002G>T (p.Gly668Ter) SNV
Unknown
Chr13:100515529 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388640368 rs_771438170

1 SubmittersRCV003476637

NM_000282.4(PCCA):c.820-1G>T SNV
Unknown
Chr13:100268688 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388694445 rs_2063103516

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
CA388694249 rs_1594992191

2 SubmittersRCV003476639

NM_000282.4(PCCA):c.1065+1G>A SNV
Germline
Chr13:100273347 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388694998 rs_2063433750

2 SubmittersRCV003476641

NM_000282.4(PCCA):c.106-2A>G SNV
Germline
Chr13:100102881 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA255964899 rs_1011184132

2 SubmittersRCV003476642

NM_000282.4(PCCA):c.1349C>G (p.Ser450Ter) SNV
Germline
Chr13:100307256 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388695725 rs_2548143083

2 SubmittersRCV003476644

NM_000282.4(PCCA):c.716+2T>C SNV
Unknown
Chr13:100257675 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388694200 rs_2547899934

1 SubmittersRCV003476645

NM_000282.4(PCCA):c.2119-1G>C SNV
Unknown
Chr13:100530097 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388640977 rs_2088290505

2 SubmittersRCV003476646

NM_000282.4(PCCA):c.889C>T (p.Gln297Ter) SNV
Unknown
Chr13:100268758 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388694603 rs_2547958051

1 SubmittersRCV003476647

NM_000282.4(PCCA):c.414+1G>C SNV
Unknown
Chr13:100155093 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388693801 rs_2152383049

1 SubmittersRCV003476648

NM_000282.4(PCCA):c.955C>T (p.Gln319Ter) SNV
Germline
Chr13:100273236 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388694754 rs_750840362

2 SubmittersRCV003476649

NM_000282.4(PCCA):c.1899+1G>T SNV
Unknown
Chr13:100449306 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388696034 rs_2548793915

1 SubmittersRCV003476650

NM_000282.4(PCCA):c.870C>A (p.Cys290Ter) SNV
Unknown
Chr13:100268739 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388694558 rs_141174380

1 SubmittersRCV003476653

NM_000282.4(PCCA):c.105+1G>C SNV
Unknown
Chr13:100089226 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388692785 rs_879253804

1 SubmittersRCV003476656

NM_000282.4(PCCA):c.415-1G>C SNV
Unknown
Chr13:100157286 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388693809 rs_2542894392

1 SubmittersRCV003476658

NM_000282.4(PCCA):c.2086C>T (p.Gln696Ter) SNV
Germline
Chr13:100527720 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388640677 rs_2549086402

2 SubmittersRCV003476659

NM_000282.4(PCCA):c.1541-1G>C SNV
Unknown
Chr13:100340156 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388696288 rs_3899076

1 SubmittersRCV003476660

NM_000282.4(PCCA):c.699G>A (p.Trp233Ter) SNV
Unknown
Chr13:100257656 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388694155 rs_2547899803

1 SubmittersRCV003476661

NM_000532.5(PCCB):c.1199-1G>A SNV
Unknown
Chr3:136327154 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354648964 rs_2529971938

1 SubmittersRCV003463227

NM_000532.5(PCCB):c.543+2T>G SNV
Unknown
Chr3:136262067 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354740030 rs_2529764039

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
CA354739686 rs_1304714042

3 SubmittersRCV003463230

NM_000532.5(PCCB):c.415C>T (p.Gln139Ter) SNV
Germline
Chr3:136260521 Pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA354739373 rs_1191525733

2 SubmittersRCV003463231

NM_000532.5(PCCB):c.184-2A>C SNV
Unknown
Chr3:136255854 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354738348 rs_1553774015

1 SubmittersRCV003471657

NM_000532.5(PCCB):c.183+5G>T SNV
Germline
Chr3:136250563 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA546894778 rs_879253813

2 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
CA354739875 rs_2529763878

2 SubmittersRCV003471659

NM_000532.5(PCCB):c.1215C>G (p.Tyr405Ter) SNV
Unknown
Chr3:136327171 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA2632096 rs_191375566

1 SubmittersRCV003463233

NM_000532.5(PCCB):c.1399-1G>C SNV
Unknown
Chr3:136328757 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354649541 rs_2529977115

1 SubmittersRCV003463234

NM_000532.5(PCCB):c.884+1G>A SNV
Unknown
Chr3:136298073 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354645001 rs_1553779458

1 SubmittersRCV003471660

NM_000532.5(PCCB):c.1145A>T (p.Asp382Val) SNV
Germline
Chr3:136326857 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354648614 rs_201138170

1 SubmittersRCV003512332

NM_000282.4(PCCA):c.716+1G>C SNV
Germline
Chr13:100257674 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388694197 rs_2547899930

1 SubmittersRCV003512425

NM_000282.4(PCCA):c.1132A>T (p.Lys378Ter) SNV
Germline
Chr13:100301526 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388695235 rs_2548113260

1 SubmittersRCV003513062

NM_000282.4(PCCA):c.322G>T (p.Glu108Ter) SNV
Germline
Chr13:100155000 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388693599 rs_2542865771

1 SubmittersRCV003512933

NM_000532.5(PCCB):c.484G>A (p.Gly162Arg) SNV
Germline
Chr3:136262006 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA354739659 rs_754752068

2 SubmittersRCV003513593

NM_000282.4(PCCA):c.1285-2A>G SNV
Germline
Chr13:100307190 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388695577 rs_2066519077

1 SubmittersRCV003511550

NM_000532.5(PCCB):c.2T>G (p.Met1Arg) SNV
Germline
Chr3:136250377 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354737809 rs_398123462

1 SubmittersRCV003511578

NM_000532.5(PCCB):c.543+1G>C SNV
Germline
Chr3:136262066 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354740024 rs_2108146835

1 SubmittersRCV003511741

NM_000282.4(PCCA):c.415-1G>A SNV
Germline
Chr13:100157286 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388693808 rs_2542894392

1 SubmittersRCV003511811

NM_000532.5(PCCB):c.427A>T (p.Lys143Ter) SNV
Germline
Chr3:136260533 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354739416 rs_2108144496

1 SubmittersRCV003511807

NM_000532.5(PCCB):c.461C>T (p.Pro154Leu) SNV
Germline
Chr3:136261983 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354739596 rs_2529763737

1 SubmittersRCV003511943

NM_000532.5(PCCB):c.733G>T (p.Gly245Cys) SNV
Germline
Chr3:136293834 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354643680 rs_756414710

1 SubmittersRCV003512615

NM_000282.4(PCCA):c.1845+2T>G SNV
Germline
Chr13:100425733 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388696935 rs_2548677635

1 SubmittersRCV003512644

NM_000282.4(PCCA):c.1746+2T>C SNV
Germline
Chr13:100368576 Pathogenic Propionic acidemia
Nonpapillary renal cell carcinoma
Criteria Provided
Single Submitter
CA388698368 rs_2548445790

2 SubmittersRCV003512596RCV005931539

NM_000532.5(PCCB):c.1398+1G>C SNV
Germline
Chr3:136327733 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354649533 rs_794727092

1 SubmittersRCV003624696

NM_000532.5(PCCB):c.183+1G>C SNV
Germline
Chr3:136250559 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354738146 rs_398123460

1 SubmittersRCV003624735

NM_000282.4(PCCA):c.638-2A>G SNV
Germline
Chr13:100257593 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388694027 rs_2547899469

3 SubmittersRCV003624794

NM_000282.4(PCCA):c.1430-2A>T SNV
Germline
Chr13:100330559 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388696040 rs_2548248522

1 SubmittersRCV003625178

NM_000282.4(PCCA):c.819+1G>A SNV
Germline
Chr13:100262832 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA388694434 rs_2062621871

2 SubmittersRCV003625418

NM_000532.5(PCCB):c.1300-1G>C SNV
Germline
Chr3:136327633 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354649265 rs_766240417

1 SubmittersRCV003625405

NM_000532.5(PCCB):c.1094G>A (p.Cys365Tyr) SNV
Germline
Chr3:136326806 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354648391 rs_2529970244

1 SubmittersRCV003625706

NM_000282.4(PCCA):c.1902C>G (p.Tyr634Ter) SNV
Germline
Chr13:100515429 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388640155 rs_1468526380

1 SubmittersRCV003625826

NM_000532.5(PCCB):c.1300-1G>A SNV
Germline
Chr3:136327633 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA2632145 rs_766240417

1 SubmittersRCV003623996

NM_000532.5(PCCB):c.439C>T (p.Gln147Ter) SNV
Germline
Chr3:136261961 Pathogenic/Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
CA354739529 rs_1941839852

2 SubmittersRCV003623956

NM_000532.5(PCCB):c.614T>G (p.Val205Gly) SNV
Germline
Chr3:136283907 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354641905 rs_1303129574

1 SubmittersRCV003624192

NM_000282.4(PCCA):c.1210-1G>A SNV
Germline
Chr13:100302923 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388695410 rs_2548122686

1 SubmittersRCV003624257

NM_000532.5(PCCB):c.1310G>A (p.Gly437Asp) SNV
Germline
Chr3:136327644 Conflicting classifications of pathogenicity not specified
Propionic acidemia
Criteria Provided
Conflicting Classifications
CA354649288 rs_2529974099

2 SubmittersRCV004801389RCV003624330

NM_000532.5(PCCB):c.737G>A (p.Gly246Asp) SNV
Germline
Chr3:136293838 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354643686 rs_2108197348

1 SubmittersRCV003625011

NM_000532.5(PCCB):c.1309G>T (p.Gly437Cys) SNV
Germline
Chr3:136327643 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354649287 rs_1349202366

1 SubmittersRCV003625042

NM_000532.5(PCCB):c.304-2A>G SNV
Germline
Chr3:136256553 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354738632 rs_2529750335

1 SubmittersRCV003828771

NM_000532.5(PCCB):c.1398+1G>A SNV
Germline
Chr3:136327733 Pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354649532 rs_794727092

1 SubmittersRCV003842880

NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly) SNV
Germline
Chr3:136326838 Conflicting classifications of pathogenicity Propionic acidemia
not specified
Criteria Provided
Conflicting Classifications
CA83819671 rs_200306164

2 SubmittersRCV003848196RCV005433482

NM_000282.4(PCCA):c.496C>A (p.Pro166Thr) SNV
Germline
Chr13:100209359 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA388693307 rs_1285387273

1 SubmittersRCV003990533

NM_000532.5(PCCB):c.1163T>A (p.Leu388His) SNV
Germline
Chr3:136326875 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354648719 rs_2529970523

1 SubmittersRCV003990676

NM_000532.5(PCCB):c.1174G>T (p.Val392Phe) SNV
Germline
Chr3:136326886 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354648778 rs_2529970593

1 SubmittersRCV003989341

NM_000532.5(PCCB):c.373-1G>T SNV
Germline
Chr3:136260478 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
CA354739224 rs_2108144374

1 SubmittersRCV004547404

NM_000282.4(PCCA):c.1306C>T (p.Gln436Ter) SNV
Unknown
Chr13:100307213 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2548142725

1 SubmittersRCV004574446

NM_000282.4(PCCA):c.414+5G>A SNV
Unknown
Chr13:100155097 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2542867677

1 SubmittersRCV004574450

NM_000282.4(PCCA):c.1524T>G (p.Tyr508Ter) SNV
Unknown
Chr13:100330655 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2152734002

1 SubmittersRCV004574452

NM_000282.4(PCCA):c.819+1G>T SNV
Unknown
Chr13:100262832 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2062621871

1 SubmittersRCV004574453

NM_000532.5(PCCB):c.1091-2A>G SNV
Unknown
Chr3:136326801 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_771726762

1 SubmittersRCV004574460

NM_000532.5(PCCB):c.925G>T (p.Glu309Ter) SNV
Unknown
Chr3:136301070 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter
rs_2529894068

1 SubmittersRCV004574462

NM_000282.4(PCCA):c.1367G>T (p.Gly456Val) SNV
Germline
Chr13:100309846 Likely pathogenic Propionic acidemia Criteria Provided
Multiple Submitters
No Conflicts
rs_2066766926

2 SubmittersRCV004586322

NM_000532.5(PCCB):c.653A>G (p.Lys218Arg) SNV
Germline
Chr3:136283946 Conflicting classifications of pathogenicity not specified
Propionic acidemia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004689535RCV005023642

NM_000282.4(PCCA):c.756T>A (p.Ser252Arg) SNV
Germline
Chr13:100262768 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV004800108

NM_000532.5(PCCB):c.1288A>C (p.Ile430Leu) SNV
Germline
Chr3:136327244 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV004800769

NM_000282.4(PCCA):c.67C>T (p.Gln23Ter) SNV
Germline
Chr13:100089187 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV005005516

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

1 SubmittersRCV005013308

NM_000282.4(PCCA):c.301-2A>G SNV
Germline
Chr13:100154977 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV005013309

NM_000282.4(PCCA):c.915-2A>G SNV
Germline
Chr13:100273194 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV005005517

NM_000282.4(PCCA):c.1746+5G>C SNV
Germline
Chr13:100368579 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV005013313

NM_000282.4(PCCA):c.2137C>T (p.Gln713Ter) SNV
Germline
Chr13:100530116 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV005013315

NM_000532.5(PCCB):c.654+2T>G SNV
Germline
Chr3:136283949 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV005035013

NM_000532.5(PCCB):c.764-1G>C SNV
Germline
Chr3:136297951 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV005031255

NM_000532.5(PCCB):c.1299+1G>T SNV
Germline
Chr3:136327256 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV005124707

NM_000532.5(PCCB):c.172C>T (p.Gln58Ter) SNV
Germline
Chr3:136250547 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV005167741

NM_000532.5(PCCB):c.1325T>C (p.Met442Thr) SNV
Germline
Chr3:136327659 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV005198345

NM_000282.4(PCCA):c.1846-2A>G SNV
Germline
Chr13:100449250 Likely pathogenic Propionic acidemia No Assertion Criteria Provided

1 SubmittersRCV005609552

NM_000282.4(PCCA):c.637+2T>C SNV
Germline
Chr13:100235880 Likely pathogenic Propionic acidemia
Nonpapillary renal cell carcinoma
No Assertion Criteria Provided

2 SubmittersRCV005609572RCV005934575

NM_000532.5(PCCB):c.929C>A (p.Ser310Ter) SNV
Germline
Chr3:136301074 Likely pathogenic Propionic acidemia No Assertion Criteria Provided

1 SubmittersRCV005611101

NM_000532.5(PCCB):c.1199-2A>T SNV
Germline
Chr3:136327153 Pathogenic Propionic acidemia No Assertion Criteria Provided

1 SubmittersRCV005611118

NM_000282.4(PCCA):c.59G>A (p.Trp20Ter) SNV
Germline
Chr13:100089179 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV005884584

NM_000282.4(PCCA):c.1724C>G (p.Ser575Ter) SNV
Germline
Chr13:100368552 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV006496436

NM_000282.4(PCCA):c.1066-1G>T SNV
Germline
Chr13:100301459 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV006512020

NM_000282.4(PCCA):c.915-1G>A SNV
Germline
Chr13:100273195 Likely pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV006500244

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

1 SubmittersRCV006525452

NM_000532.5(PCCB):c.1222A>T (p.Ile408Phe) SNV
Germline
Chr3:136327178 Pathogenic Propionic acidemia Criteria Provided
Single Submitter

1 SubmittersRCV006572351

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

1 SubmittersRCV006633297