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	12 SubmittersRCV000012791 RCV004589508
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	10 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	Criteria Provided Conflicting Classifications	CA292687	rs_61749895	9 SubmittersRCV000032108 RCV000127322 RCV002262596
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 SubmittersRCV000032113 RCV000790683
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 SubmittersRCV000032127 RCV001090670
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 SubmittersRCV000032128 RCV001090671 RCV002513291
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 SubmittersRCV000032130 RCV000790698 RCV004752730
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 SubmittersRCV000078550 RCV000669365
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 SubmittersRCV000173154 RCV002515758
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 SubmittersRCV000079092 RCV002281914 RCV003415845
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 SubmittersRCV000173153 RCV001203595
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 SubmittersRCV000174489 RCV000724428
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 SubmittersRCV000176030 RCV000724429
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 SubmittersRCV000178067 RCV002516765
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 SubmittersRCV000179767 RCV000413250 RCV000507200 RCV003372636
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 SubmittersRCV000515420 RCV000723557 RCV003937633
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 SubmittersRCV000186089 RCV000441240 RCV001083724 RCV003917704
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 SubmittersRCV000186088 RCV000341685 RCV002517828
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 SubmittersRCV000186084 RCV000380145 RCV002513960
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 SubmittersRCV000186085 RCV000414788 RCV003984829
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 SubmittersRCV000186079 RCV001193473 RCV005055686
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 SubmittersRCV000235647 RCV004701265
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 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10575828	rs_879253805	5 SubmittersRCV000236234 RCV002282038 RCV002515491
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 SubmittersRCV000236220 RCV000611609 RCV003401094
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 SubmittersRCV000235940 RCV003884401
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 SubmittersRCV000224898 RCV000675079
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 SubmittersRCV000255741 RCV000613658 RCV001814133
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 SubmittersRCV000382350 RCV000670117 RCV003409392
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 SubmittersRCV000343943 RCV000726318 RCV003479094
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 SubmittersRCV000353159 RCV000726367
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 SubmittersRCV000392658 RCV000626699 RCV000859703 RCV003957774
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 SubmittersRCV000263351 RCV000437361 RCV002057841
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 SubmittersRCV000321726 RCV002504151 RCV003418067
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 SubmittersRCV000336865 RCV000727577 RCV004955449
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser)	SNV Germline	Chr3:136283888	Conflicting classifications of pathogenicity	Propionic acidemia PCCB-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2631791	rs_371155999	4 SubmittersRCV000325301 RCV003950206 RCV001706552
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 SubmittersRCV000312229 RCV000427679
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 SubmittersRCV000355728 RCV001556201 RCV003950205
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 SubmittersRCV000281740 RCV000439688 RCV001705512
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 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7033143	rs_202049874	5 SubmittersRCV000323167 RCV000514592 RCV000611978
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	8 SubmittersRCV000363413 RCV001705465 RCV003977916
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 SubmittersRCV000381820 RCV000421667
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 SubmittersRCV000405157 RCV001705464
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 SubmittersRCV000430877 RCV001086397 RCV003488590
NM_000282.4(PCCA):c.1285-4C>T	SNV Germline	Chr13:100307188	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Propionic acidemia	Criteria Provided Conflicting Classifications	CA7033599	rs_372262089	3 SubmittersRCV000429591 RCV002521719 RCV000938495
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 SubmittersRCV000864224 RCV001704456
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 SubmittersRCV000870682 RCV001698237 RCV003959930
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 SubmittersRCV000480056 RCV002525770
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)	SNV Germline	Chr13:100340174	Conflicting classifications of pathogenicity	Propionic acidemia not specified PCCA-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA7033719	rs_112237881	5 SubmittersRCV001083571 RCV003330725 RCV003972818 RCV000493022
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 SubmittersRCV000513545 RCV001084379
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)	SNV Germline	Chr13:100268762	Conflicting classifications of pathogenicity	Condition: not provided Propionic acidemia	Criteria Provided Conflicting Classifications	CA388694612	rs_1444049793	7 SubmittersRCV000522063 RCV000664657
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 SubmittersRCV000525403 RCV001086663 RCV003915506
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 SubmittersRCV000538185 RCV003942761
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 SubmittersRCV000551482 RCV003403270
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	4 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 SubmittersRCV000586456 RCV001853980
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 SubmittersRCV000597665 RCV001867939
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 SubmittersRCV000804989 RCV001529879 RCV003927991
NM_000532.5(PCCB):c.763+10C>G	SNV Germline	Chr3:136293874	Conflicting classifications of pathogenicity	Hyperammonemia Global developmental delay PCCB-related disorder Propionic acidemia	Criteria Provided Conflicting Classifications	CA2631852	rs_180982841	5 SubmittersRCV000626700 RCV003917994 RCV000634865
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)	SNV Germline	Chr3:136262006	Pathogenic/Likely pathogenic	Propionic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA2631758	rs_754752068	4 SubmittersRCV000634872
NM_000532.5(PCCB):c.654+3A>C	SNV Germline	Chr3:136283950	Conflicting classifications of pathogenicity	Propionic acidemia PCCB-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2631806	rs_199886085	6 SubmittersRCV000634873 RCV003928063 RCV001637106
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	6 SubmittersRCV000674433 RCV005626148
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 SubmittersRCV000667545 RCV005411532
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 SubmittersRCV000674578 RCV001268006
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser)	SNV Germline	Chr3:136293864	Likely pathogenic	Propionic acidemia	Criteria Provided Single Submitter	CA354643739	rs_1553778909	3 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	6 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	Inborn genetic diseases Propionic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA388694670	rs_367615795	6 SubmittersRCV002530710 RCV000667400
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	Likely pathogenic	Propionic acidemia	Criteria Provided Single Submitter	CA388692966	rs_1555342593	2 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	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	CA612003058	rs_1467680142	5 SubmittersRCV000668869 RCV002275128
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	5 SubmittersRCV000672493 RCV003892521
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	Criteria Provided Multiple Submitters No Conflicts	CA388695938	rs_1194679272	5 SubmittersRCV000669487 RCV003928159
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 SubmittersRCV000673344 RCV003317333
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 SubmittersRCV000674908 RCV004526009
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 SubmittersRCV000690991 RCV003403602
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 SubmittersRCV000705128 RCV004800552
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	7 SubmittersRCV000686636 RCV003222100 RCV004026241
NM_000282.4(PCCA):c.819+9A>G	SNV Germline	Chr13:100262840	Conflicting classifications of pathogenicity	Propionic acidemia	Criteria Provided Conflicting Classifications	CA7033385	rs_372739944	3 SubmittersRCV000689202
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 SubmittersRCV000688231 RCV004957996
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	No Assertion Criteria Provided	CA388693366	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	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 SubmittersRCV000800267 RCV004588263
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	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 SubmittersRCV000830858 RCV001083919 RCV003918294
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 SubmittersRCV000877066 RCV001565080
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	5 SubmittersRCV000874732 RCV001192545 RCV001547426
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 SubmittersRCV000872035 RCV004958213
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 SubmittersRCV000877589 RCV003411870 RCV003948256
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 SubmittersRCV001148765 RCV001551113
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile)	SNV Germline	Chr3:136327686	Conflicting classifications of pathogenicity	Propionic acidemia Hypertrophic cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA2632153	rs_145135400	4 SubmittersRCV000973820 RCV005626279 RCV001563448
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 SubmittersRCV000970533 RCV001558271 RCV004029951
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	3 SubmittersRCV000911741 RCV002065812
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	6 SubmittersRCV001037425 RCV003413821
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)	SNV Germline	Chr3:136329941	Likely pathogenic	Propionic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA2632234	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	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 SubmittersRCV001115046 RCV002556256
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 SubmittersRCV002265954 RCV001144196
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 SubmittersRCV001192546 RCV004960516
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 SubmittersRCV001247013 RCV002568671 RCV005057151
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 SubmittersRCV001269068 RCV004526825 RCV004545164
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 SubmittersRCV001319121 RCV004793419
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 SubmittersRCV001352317 RCV002547553
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	4 SubmittersRCV001346006 RCV003169680
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 SubmittersRCV001463129 RCV004038620
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 SubmittersRCV001487056 RCV002562713
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 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA83793889	rs_1052979420	4 SubmittersRCV001808255 RCV005409838 RCV005419217
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 SubmittersRCV001969147 RCV005406241
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 SubmittersRCV001965438 RCV003401934
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 SubmittersRCV001930791 RCV002557775
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 SubmittersRCV002045334 RCV002657689
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 SubmittersRCV002011594 RCV005433605
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	3 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	Criteria Provided Multiple Submitters No Conflicts	CA388695372	rs_1301904623	3 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	CA83814017	rs_1011978513	2 SubmittersRCV001892524 RCV003416534
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 SubmittersRCV002108841 RCV005412376
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 SubmittersRCV002191067 RCV005382396
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 SubmittersRCV003062605 RCV005433305
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 SubmittersRCV003090307 RCV004801284
NM_000282.4(PCCA):c.1117A>G (p.Met373Val)	SNV Germline	Chr13:100301511	Likely pathogenic	Propionic acidemia	Criteria Provided Single Submitter	CA388695204	rs_2066053673	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	CA7033105	rs_753195550	2 SubmittersRCV002611714 RCV004070521
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 SubmittersRCV002640627 RCV005626751
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 SubmittersRCV002651750 RCV004690377
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 SubmittersRCV003120419 RCV003479500
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 SubmittersRCV003230926 RCV005029948
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 SubmittersRCV003414264 RCV004572967
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 Single Submitter	CA388640977	rs_2088290505	1 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	Conflicting classifications of pathogenicity	Propionic acidemia not specified	Criteria Provided Conflicting Classifications	CA354739659	rs_754752068	2 SubmittersRCV003513593 RCV004801365
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	Criteria Provided Single Submitter	CA388698368	rs_2548445790	1 SubmittersRCV003512596
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	Propionic acidemia not specified	Criteria Provided Conflicting Classifications	CA354649288	rs_2529974099	2 SubmittersRCV003624330 RCV004801389
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 SubmittersRCV003848196 RCV005433482
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 SubmittersRCV004689535 RCV005023642
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	No Assertion Criteria Provided			1 SubmittersRCV005609572
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_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

12 SubmittersRCV000012791 RCV004589508

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

10 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

Criteria Provided
Conflicting Classifications

CA292687

rs_61749895

9 SubmittersRCV000032108 RCV000127322 RCV002262596

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 SubmittersRCV000032113 RCV000790683

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 SubmittersRCV000032127 RCV001090670

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 SubmittersRCV000032128 RCV001090671 RCV002513291

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 SubmittersRCV000032130 RCV000790698 RCV004752730

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 SubmittersRCV000078550 RCV000669365

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 SubmittersRCV000173154 RCV002515758

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 SubmittersRCV000079092 RCV002281914 RCV003415845

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 SubmittersRCV000173153 RCV001203595

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 SubmittersRCV000174489 RCV000724428

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 SubmittersRCV000176030 RCV000724429

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 SubmittersRCV000178067 RCV002516765

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 SubmittersRCV000179767 RCV000413250 RCV000507200 RCV003372636

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 SubmittersRCV000515420 RCV000723557 RCV003937633

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 SubmittersRCV000186089 RCV000441240 RCV001083724 RCV003917704

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 SubmittersRCV000186088 RCV000341685 RCV002517828

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 SubmittersRCV000186084 RCV000380145 RCV002513960

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 SubmittersRCV000186085 RCV000414788 RCV003984829

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 SubmittersRCV000186079 RCV001193473 RCV005055686

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 SubmittersRCV000235647 RCV004701265

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
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10575828

rs_879253805

5 SubmittersRCV000236234 RCV002282038 RCV002515491

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 SubmittersRCV000236220 RCV000611609 RCV003401094

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 SubmittersRCV000235940 RCV003884401

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 SubmittersRCV000224898 RCV000675079

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 SubmittersRCV000255741 RCV000613658 RCV001814133

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 SubmittersRCV000382350 RCV000670117 RCV003409392

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 SubmittersRCV000343943 RCV000726318 RCV003479094

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 SubmittersRCV000353159 RCV000726367

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 SubmittersRCV000392658 RCV000626699 RCV000859703 RCV003957774

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 SubmittersRCV000263351 RCV000437361 RCV002057841

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 SubmittersRCV000321726 RCV002504151 RCV003418067

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 SubmittersRCV000336865 RCV000727577 RCV004955449

NM_000532.5(PCCB):c.595C>T (p.Pro199Ser)

SNV
Germline

Chr3:136283888

Conflicting classifications of pathogenicity

Propionic acidemia
PCCB-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2631791

rs_371155999

4 SubmittersRCV000325301 RCV003950206 RCV001706552

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 SubmittersRCV000312229 RCV000427679

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 SubmittersRCV000355728 RCV001556201 RCV003950205

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 SubmittersRCV000281740 RCV000439688 RCV001705512

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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7033143

rs_202049874

5 SubmittersRCV000323167 RCV000514592 RCV000611978

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

8 SubmittersRCV000363413 RCV001705465 RCV003977916

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 SubmittersRCV000381820 RCV000421667

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 SubmittersRCV000405157 RCV001705464

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 SubmittersRCV000430877 RCV001086397 RCV003488590

NM_000282.4(PCCA):c.1285-4C>T

SNV
Germline

Chr13:100307188

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Propionic acidemia

Criteria Provided
Conflicting Classifications

CA7033599

rs_372262089

3 SubmittersRCV000429591 RCV002521719 RCV000938495

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 SubmittersRCV000864224 RCV001704456

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 SubmittersRCV000870682 RCV001698237 RCV003959930

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 SubmittersRCV000480056 RCV002525770

NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)

SNV
Germline

Chr13:100340174

Conflicting classifications of pathogenicity

Propionic acidemia
not specified
PCCA-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7033719

rs_112237881

5 SubmittersRCV001083571 RCV003330725 RCV003972818 RCV000493022

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 SubmittersRCV000513545 RCV001084379

NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)

SNV
Germline

Chr13:100268762

Conflicting classifications of pathogenicity

Condition: not provided
Propionic acidemia

Criteria Provided
Conflicting Classifications

CA388694612

rs_1444049793

7 SubmittersRCV000522063 RCV000664657

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 SubmittersRCV000525403 RCV001086663 RCV003915506

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 SubmittersRCV000538185 RCV003942761

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 SubmittersRCV000551482 RCV003403270

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

4 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 SubmittersRCV000586456 RCV001853980

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 SubmittersRCV000597665 RCV001867939

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 SubmittersRCV000804989 RCV001529879 RCV003927991

NM_000532.5(PCCB):c.763+10C>G

SNV
Germline

Chr3:136293874

Conflicting classifications of pathogenicity

Hyperammonemia
Global developmental delay
PCCB-related disorder
Propionic acidemia

Criteria Provided
Conflicting Classifications

CA2631852

rs_180982841

5 SubmittersRCV000626700 RCV003917994 RCV000634865

NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)

SNV
Germline

Chr3:136262006

Pathogenic/Likely pathogenic

Propionic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA2631758

rs_754752068

4 SubmittersRCV000634872

NM_000532.5(PCCB):c.654+3A>C

SNV
Germline

Chr3:136283950

Conflicting classifications of pathogenicity

Propionic acidemia
PCCB-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2631806

rs_199886085

6 SubmittersRCV000634873 RCV003928063 RCV001637106

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

6 SubmittersRCV000674433 RCV005626148

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 SubmittersRCV000667545 RCV005411532

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 SubmittersRCV000674578 RCV001268006

NM_000532.5(PCCB):c.763G>A (p.Gly255Ser)

SNV
Germline

Chr3:136293864

Likely pathogenic

Propionic acidemia

Criteria Provided
Single Submitter

CA354643739

rs_1553778909

3 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

6 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

Inborn genetic diseases
Propionic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA388694670

rs_367615795

6 SubmittersRCV002530710 RCV000667400

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

Likely pathogenic

Propionic acidemia

Criteria Provided
Single Submitter

CA388692966

rs_1555342593

2 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

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

CA612003058

rs_1467680142

5 SubmittersRCV000668869 RCV002275128

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

5 SubmittersRCV000672493 RCV003892521

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

Criteria Provided
Multiple Submitters
No Conflicts

CA388695938

rs_1194679272

5 SubmittersRCV000669487 RCV003928159

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 SubmittersRCV000673344 RCV003317333

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 SubmittersRCV000674908 RCV004526009

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 SubmittersRCV000690991 RCV003403602

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 SubmittersRCV000705128 RCV004800552

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

7 SubmittersRCV000686636 RCV003222100 RCV004026241

NM_000282.4(PCCA):c.819+9A>G

SNV
Germline

Chr13:100262840

Conflicting classifications of pathogenicity

Propionic acidemia

Criteria Provided
Conflicting Classifications

CA7033385

rs_372739944

3 SubmittersRCV000689202

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 SubmittersRCV000688231 RCV004957996

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

No Assertion Criteria Provided

CA388693366

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

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 SubmittersRCV000800267 RCV004588263

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

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 SubmittersRCV000830858 RCV001083919 RCV003918294

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 SubmittersRCV000877066 RCV001565080

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

5 SubmittersRCV000874732 RCV001192545 RCV001547426

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 SubmittersRCV000872035 RCV004958213

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 SubmittersRCV000877589 RCV003411870 RCV003948256

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 SubmittersRCV001148765 RCV001551113

NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile)

SNV
Germline

Chr3:136327686

Conflicting classifications of pathogenicity

Propionic acidemia
Hypertrophic cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2632153

rs_145135400

4 SubmittersRCV000973820 RCV005626279 RCV001563448

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 SubmittersRCV000970533 RCV001558271 RCV004029951

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

3 SubmittersRCV000911741 RCV002065812

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

6 SubmittersRCV001037425 RCV003413821

NM_000532.5(PCCB):c.1535G>A (p.Arg512His)

SNV
Germline

Chr3:136329941

Likely pathogenic

Propionic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA2632234

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

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 SubmittersRCV001115046 RCV002556256

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 SubmittersRCV002265954 RCV001144196

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 SubmittersRCV001192546 RCV004960516

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 SubmittersRCV001247013 RCV002568671 RCV005057151

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 SubmittersRCV001269068 RCV004526825 RCV004545164

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 SubmittersRCV001319121 RCV004793419

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 SubmittersRCV001352317 RCV002547553

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

4 SubmittersRCV001346006 RCV003169680

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 SubmittersRCV001463129 RCV004038620

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 SubmittersRCV001487056 RCV002562713

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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA83793889

rs_1052979420

4 SubmittersRCV001808255 RCV005409838 RCV005419217

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 SubmittersRCV001969147 RCV005406241

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 SubmittersRCV001965438 RCV003401934

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 SubmittersRCV001930791 RCV002557775

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 SubmittersRCV002045334 RCV002657689

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 SubmittersRCV002011594 RCV005433605

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

3 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

Criteria Provided
Multiple Submitters
No Conflicts

CA388695372

rs_1301904623

3 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

CA83814017

rs_1011978513

2 SubmittersRCV001892524 RCV003416534

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 SubmittersRCV002108841 RCV005412376

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 SubmittersRCV002191067 RCV005382396

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 SubmittersRCV003062605 RCV005433305

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 SubmittersRCV003090307 RCV004801284

NM_000282.4(PCCA):c.1117A>G (p.Met373Val)

SNV
Germline

Chr13:100301511

Likely pathogenic

Propionic acidemia

Criteria Provided
Single Submitter

CA388695204

rs_2066053673

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

CA7033105

rs_753195550

2 SubmittersRCV002611714 RCV004070521

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 SubmittersRCV002640627 RCV005626751

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 SubmittersRCV002651750 RCV004690377

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 SubmittersRCV003120419 RCV003479500

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 SubmittersRCV003230926 RCV005029948

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 SubmittersRCV003414264 RCV004572967

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
Single Submitter

CA388640977

rs_2088290505

1 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

Conflicting classifications of pathogenicity

Propionic acidemia
not specified

Criteria Provided
Conflicting Classifications

CA354739659

rs_754752068

2 SubmittersRCV003513593 RCV004801365

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

Criteria Provided
Single Submitter

CA388698368

rs_2548445790

1 SubmittersRCV003512596

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

Propionic acidemia
not specified

Criteria Provided
Conflicting Classifications

CA354649288

rs_2529974099

2 SubmittersRCV003624330 RCV004801389

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 SubmittersRCV003848196 RCV005433482

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 SubmittersRCV004689535 RCV005023642

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

No Assertion Criteria Provided

1 SubmittersRCV005609572

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