Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr)	SNV Germline	Chr11:66851944	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter	CA339936	rs_28940589	2 SubmittersRCV000002175
NM_001040716.2(PC):c.2229G>T (p.Met743Ile)	SNV Germline	Chr11:66850918	Pathogenic	Pyruvate carboxylase deficiency	No Assertion Criteria Provided	CA339938	rs_28940590	1 SubmittersRCV000002176
NM_001040716.2(PC):c.434T>C (p.Val145Ala)	SNV Germline	Chr11:66871368	Pathogenic	Pyruvate carboxylase deficiency	No Assertion Criteria Provided	CA339940	rs_28940591	1 SubmittersRCV000002177
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)	SNV Germline	Chr11:66863791	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter	CA339942	rs_113994143	2 SubmittersRCV000002178
NM_001040716.2(PC):c.1748G>T (p.Arg583Leu)	SNV Germline	Chr11:66852516	Pathogenic	Pyruvate carboxylase deficiency	No Assertion Criteria Provided	CA252102	rs_119103242	1 SubmittersRCV000002182
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)	SNV Germline	Chr11:66851880	Pathogenic/Likely pathogenic	Pyruvate carboxylase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341754	rs_113994145	5 SubmittersRCV000020384 RCV000484861
NM_001040716.2(PC):c.2114C>A (p.Ser705Ter)	SNV Germline	Chr11:66851149	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_113994146	1 SubmittersRCV003811121
NM_001040716.2(PC):c.2550C>T (p.Cys850=)	SNV Germline	Chr11:66850388	Conflicting classifications of pathogenicity	not specified Pyruvate carboxylase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA292675	rs_61749179	4 SubmittersRCV000127316 RCV000347109 RCV003398745
NM_001040716.2(PC):c.1368+11G>A	SNV Germline	Chr11:66863763	Conflicting classifications of pathogenicity	not specified Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications	CA292686	rs_371731636	3 SubmittersRCV000127321 RCV001107031
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)	SNV Germline	Chr11:66849651	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA312911	rs_141237842	9 SubmittersRCV000437686 RCV000765003 RCV004020256
NM_001040716.2(PC):c.2723C>T (p.Thr908Met)	SNV Germline	Chr11:66850112	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications	CA312930	rs_796052032	2 SubmittersRCV000186130 RCV000675135
NM_001040716.2(PC):c.1767G>T (p.Lys589Asn)	SNV Germline	Chr11:66852497	Conflicting classifications of pathogenicity	not specified Pyruvate carboxylase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA312851	rs_143725101	3 SubmittersRCV000186103 RCV002513961 RCV003380511
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr)	SNV Germline	Chr11:66852547	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency not specified	Criteria Provided Conflicting Classifications	CA312896	rs_796052029	3 SubmittersRCV000186118 RCV001824667 RCV003323437
NM_001040716.2(PC):c.1640G>A (p.Arg547Gln)	SNV Germline	Chr11:66852624	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications	CA312893	rs_142036463	2 SubmittersRCV000186117 RCV002516969
NM_001040716.2(PC):c.788G>A (p.Arg263Gln)	SNV Germline	Chr11:66870417	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications	CA312921	rs_769177104	3 SubmittersRCV000186127 RCV000632922
NM_001040716.2(PC):c.786G>T (p.Glu262Asp)	SNV Germline	Chr11:66870419	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency Inborn genetic diseases PC-related disorder	Criteria Provided Conflicting Classifications	CA312908	rs_200030109	5 SubmittersRCV000186122 RCV000664794 RCV002516970 RCV003895221
NM_001040716.2(PC):c.616G>T (p.Val206Leu)	SNV Germline	Chr11:66871069	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications	CA312918	rs_147945506	5 SubmittersRCV000676961 RCV001083901
NM_001040716.2(PC):c.496G>A (p.Val166Ile)	SNV Germline	Chr11:66871189	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA312915	rs_147697454	6 SubmittersRCV000186125 RCV000765004 RCV003330549 RCV002516971
NM_001040716.2(PC):c.321+5G>A	SNV Germline	Chr11:66871682	Conflicting classifications of pathogenicity	not specified Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications	CA312914	rs_200766019	2 SubmittersRCV000186124 RCV000935621
NM_001040716.2(PC):c.89G>A (p.Arg30Gln)	SNV Germline	Chr11:66872071	Conflicting classifications of pathogenicity	not specified Pyruvate carboxylase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA312881	rs_199616332	4 SubmittersRCV000186113 RCV001104367 RCV002054188
NM_001040716.2(PC):c.50G>A (p.Arg17His)	SNV Germline	Chr11:66872110	Conflicting classifications of pathogenicity	not specified Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications	CA312875	rs_375282341	2 SubmittersRCV000186111 RCV001239120
NM_001040716.2(PC):c.879C>T (p.Ser293=)	SNV Germline	Chr11:66870326	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA6132083	rs_183131461	3 SubmittersRCV000292711 RCV001711910
NM_001040716.2(PC):c.1514-6C>T	SNV Germline	Chr11:66852842	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications	CA6131347	rs_745563711	2 SubmittersRCV000406206
NM_001040716.2(PC):c.715A>G (p.Ile239Val)	SNV Germline	Chr11:66870811	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA6132143	rs_148805312	4 SubmittersRCV000319569 RCV003128620
NM_001040716.2(PC):c.543C>T (p.His181=)	SNV Germline	Chr11:66871142	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency PC-related disorder	Criteria Provided Conflicting Classifications	CA6132189	rs_139717038	3 SubmittersRCV000374071 RCV003930296
NM_001040716.2(PC):c.3198C>T (p.Ser1066=)	SNV Germline	Chr11:66849320	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA6130863	rs_144087445	3 SubmittersRCV000330539 RCV001718619
NM_001040716.2(PC):c.1233C>T (p.Ser411=)	SNV Germline	Chr11:66863909	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications	CA6131935	rs_747247743	2 SubmittersRCV000362739
NM_001040716.2(PC):c.1023-14C>G	SNV Germline	Chr11:66866363	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications	CA6132003	rs_111858832	3 SubmittersRCV000332434
NM_001040716.2(PC):c.*15G>A	SNV Germline	Chr11:66848884	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency not specified	Criteria Provided Conflicting Classifications	CA6130758	rs_45501894	2 SubmittersRCV000260329 RCV000429446
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile)	SNV Germline	Chr11:66849001	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Condition: not provided PC-related disorder	Criteria Provided Conflicting Classifications	CA6130782	rs_201796252	4 SubmittersRCV000356215 RCV002461065 RCV003897696
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)	SNV Germline	Chr11:66849095	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA6130812	rs_148492494	4 SubmittersRCV000263852 RCV002466484
NM_001040716.2(PC):c.927C>T (p.Thr309=)	SNV Germline	Chr11:66868941	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency not specified	Criteria Provided Conflicting Classifications	CA6132059	rs_373717650	3 SubmittersRCV000387000 RCV000612724
NM_001040716.2(PC):c.796T>G (p.Ser266Ala)	SNV Germline	Chr11:66870409	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency not specified	Criteria Provided Conflicting Classifications	CA16606005	rs_113994142	4 SubmittersRCV000431389 RCV000675077 RCV003235208
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr)	SNV Germline	Chr11:66866191	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications	CA16606295	rs_1057520687	3 SubmittersRCV004022319 RCV000433773 RCV000675086
NM_001040716.2(PC):c.1023-14C>A	SNV Germline	Chr11:66866363	Conflicting classifications of pathogenicity	not specified Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications	CA6132005	rs_111858832	3 SubmittersRCV000442436 RCV001107690
NM_001040716.2(PC):c.3514G>A (p.Asp1172Asn)	SNV Germline	Chr11:66848922	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications	CA6130769	rs_568925019	2 SubmittersRCV000489791 RCV001851318
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)	SNV Germline	Chr11:66863785	Pathogenic/Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224087137	rs_768514713	3 SubmittersRCV000504155
NM_001040716.2(PC):c.1368+1G>A	SNV Germline	Chr11:66863773	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA381497742	rs_755640269	2 SubmittersRCV000516896
NM_001040716.2(PC):c.2668G>T (p.Val890Phe)	SNV Germline	Chr11:66850270	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter	CA381492401	rs_1555014957	1 SubmittersRCV000576201
NM_001040716.2(PC):c.486G>A (p.Ala162=)	SNV Germline	Chr11:66871316	Conflicting classifications of pathogenicity	not specified Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications	CA6132216	rs_142416378	3 SubmittersRCV000612642 RCV001104063
NM_001040716.2(PC):c.1446C>T (p.Asp482=)	SNV Germline	Chr11:66853306	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA6131395	rs_145891535	4 SubmittersRCV001000777 RCV001706685
NM_001040716.2(PC):c.806G>A (p.Arg269Gln)	SNV Germline	Chr11:66870399	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_1349343839	5 SubmittersRCV000665403
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp)	SNV Unknown	Chr11:66850332	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_1555015018	2 SubmittersRCV000670028
NM_001040716.2(PC):c.1022+1G>A	SNV Unknown	Chr11:66868845	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_1555025823	1 SubmittersRCV000672699
NM_001040716.2(PC):c.52C>T (p.Arg18Ter)	SNV Germline	Chr11:66872108	Pathogenic/Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_144583275	3 SubmittersRCV000669751
NM_001040716.2(PC):c.633+2T>C	SNV Germline	Chr11:66871050	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_763433647	4 SubmittersRCV000666561
NM_001040716.2(PC):c.584C>T (p.Ala195Val)	SNV Unknown	Chr11:66871101	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_1436643226	2 SubmittersRCV000667975
NM_001040716.2(PC):c.3391G>A (p.Val1131Met)	SNV Germline	Chr11:66849045	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_116518022	4 SubmittersRCV000676956 RCV000707608 RCV002544683
NM_001040716.2(PC):c.2489G>A (p.Arg830His)	SNV Germline	Chr11:66850449	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_773519800	3 SubmittersRCV000756461 RCV001855874 RCV004027126
NM_001040716.2(PC):c.1825+1G>A	SNV Germline	Chr11:66852438	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_1565214970	2 SubmittersRCV000779075
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu)	SNV Germline	Chr11:66852657	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_751657066	3 SubmittersRCV000785069 RCV002535717
NM_001040716.2(PC):c.1512C>T (p.Leu504=)	SNV Germline	Chr11:66853240	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Condition: not provided PC-related disorder	Criteria Provided Conflicting Classifications		rs_763298490	3 SubmittersRCV000815111 RCV003222142 RCV003955524
NM_001040716.2(PC):c.1075G>A (p.Asp359Asn)	SNV Germline	Chr11:66866297	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_780215837	2 SubmittersRCV000804917 RCV001556189
NM_001040716.2(PC):c.3531C>T (p.Ile1177=)	SNV Germline	Chr11:66848905	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_144982348	3 SubmittersRCV000921391 RCV003456457
NM_001040716.2(PC):c.1530C>T (p.Asn510=)	SNV Germline	Chr11:66852820	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_755162836	2 SubmittersRCV000919746
NM_001040716.2(PC):c.2899-9G>A	SNV Germline	Chr11:66849868	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_372755874	2 SubmittersRCV000950205
NM_001040716.2(PC):c.3483T>C (p.His1161=)	SNV Germline	Chr11:66848953	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_190223302	2 SubmittersRCV000979106
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu)	SNV Germline	Chr11:66852761	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_370248734	2 SubmittersRCV000976136
NM_001040716.2(PC):c.815A>G (p.Gln272Arg)	SNV Unknown	Chr11:66870390	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_1591186383	1 SubmittersRCV000988582
NM_001040716.2(PC):c.*89G>A	SNV Germline	Chr11:66848810	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_186152567	2 SubmittersRCV001103866 RCV001564456
NM_001040716.2(PC):c.3399G>A (p.Lys1133=)	SNV Germline	Chr11:66849037	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_776825183	2 SubmittersRCV001105814
NM_001040716.2(PC):c.3213C>T (p.Ala1071=)	SNV Germline	Chr11:66849305	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_774982916	2 SubmittersRCV001106924
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)	SNV Germline	Chr11:66850052	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_755385132	5 SubmittersRCV001107591 RCV002556107 RCV002508291
NM_001040716.2(PC):c.2019C>A (p.Val673=)	SNV Germline	Chr11:66851244	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_1591119887	2 SubmittersRCV001103978
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln)	SNV Germline	Chr11:66852600	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_148613404	2 SubmittersRCV001104268
NM_001040716.2(PC):c.1377C>T (p.Ile459=)	SNV Germline	Chr11:66853375	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_201776268	2 SubmittersRCV001107030
NM_001040716.2(PC):c.1266C>T (p.Tyr422=)	SNV Germline	Chr11:66863876	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_141324828	2 SubmittersRCV001107032
NM_001040716.2(PC):c.78C>A (p.Ser26=)	SNV Germline	Chr11:66872082	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_1161512784	2 SubmittersRCV001104368
NM_001040716.2(PC):c.3148-14C>T	SNV Germline	Chr11:66849384	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_773784306	2 SubmittersRCV001106925
NM_001040716.2(PC):c.2224-14C>T	SNV Germline	Chr11:66850937	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_780315450	2 SubmittersRCV001103976
NM_001040716.2(PC):c.1514-13G>A	SNV Germline	Chr11:66852849	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_773976056	2 SubmittersRCV001104269
NM_001040716.2(PC):c.904-11C>T	SNV Germline	Chr11:66868975	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_200473405	2 SubmittersRCV001107691
NM_001040716.2(PC):c.751+13G>A	SNV Germline	Chr11:66870762	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_374607634	2 SubmittersRCV001104061
NM_001040716.2(PC):c.1514-2A>G	SNV Germline	Chr11:66852838	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_1945585636	1 SubmittersRCV001208930
NM_001040716.2(PC):c.903+2T>A	SNV Germline	Chr11:66870300	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_1946669738	1 SubmittersRCV001214966
NM_001040716.2(PC):c.1480C>T (p.Gln494Ter)	SNV Germline	Chr11:66853272	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_1945617407	1 SubmittersRCV001261600
NM_001040716.2(PC):c.2000A>C (p.Lys667Thr)	SNV Germline	Chr11:66851263	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_138760063	3 SubmittersRCV001299753 RCV003318678 RCV004036148
NM_024036.5(LRFN4):c.1882G>T (p.Glu628Ter)	SNV Unknown	Chr11:66860169	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_1230803568	1 SubmittersRCV001332612
NM_001040716.2(PC):c.1369-1G>C	SNV Germline	Chr11:66853384	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_2135822173	1 SubmittersRCV001377234
NM_001040716.2(PC):c.3288+1G>T	SNV Germline	Chr11:66849229	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_2135785399	1 SubmittersRCV001388927
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter)	SNV Germline	Chr11:66852601	Pathogenic/Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_766242199	2 SubmittersRCV001383248
NM_001040716.2(PC):c.1042C>T (p.Gln348Ter)	SNV Germline	Chr11:66866330	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_2135917452	1 SubmittersRCV001386564
NM_001040716.2(PC):c.2754C>T (p.Ala918=)	SNV Germline	Chr11:66850081	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_534275006	2 SubmittersRCV001491888 RCV002509684
NM_001040716.2(PC):c.1297G>A (p.Gly433Ser)	SNV Germline	Chr11:66863845	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_908978048	2 SubmittersRCV001541841 RCV001501079
NM_001040716.2(PC):c.3242A>G (p.Asn1081Ser)	SNV Germline	Chr11:66849276	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_745626388	2 SubmittersRCV001561390 RCV004571061
NM_001040716.2(PC):c.3409C>G (p.Leu1137Val)	SNV Germline	Chr11:66849027	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_777927070	2 SubmittersRCV001763072 RCV003497934
NM_001040716.2(PC):c.1372A>G (p.Asn458Asp)	SNV Germline	Chr11:66853380	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_2135822119	1 SubmittersRCV001774754
NM_001040716.2(PC):c.1983-116C>T	SNV Germline	Chr11:66851396	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_2135805611	2 SubmittersRCV001774756
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp)	SNV Germline	Chr11:66851896	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications		rs_1591122325	2 SubmittersRCV001774757
NM_001040716.2(PC):c.2606G>C (p.Gly869Ala)	SNV Germline	Chr11:66850332	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_1555015018	1 SubmittersRCV001774758
NM_001040716.2(PC):c.2435C>A (p.Ala812Asp)	SNV Germline	Chr11:66850712	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_2135798857	1 SubmittersRCV001774759
NM_001040716.2(PC):c.1186-1G>T	SNV Germline	Chr11:66863957	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_2135904801	1 SubmittersRCV001784799
NM_001040716.2(PC):c.2194C>T (p.Arg732Ter)	SNV Germline	Chr11:66851069	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_112948607	1 SubmittersRCV001782570
NM_001040716.2(PC):c.2278C>T (p.Arg760Trp)	SNV Germline	Chr11:66850869	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_563526275	1 SubmittersRCV001824205
NM_001040716.2(PC):c.1345G>T (p.Glu449Ter)	SNV Germline	Chr11:66863797	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_2135903791	1 SubmittersRCV001928241
NM_001040716.2(PC):c.1023-1G>A	SNV Germline	Chr11:66866350	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_2135917561	1 SubmittersRCV001941742
NM_001040716.2(PC):c.1368+1G>T	SNV Germline	Chr11:66863773	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_755640269	1 SubmittersRCV001995264
NM_001040716.2(PC):c.3147+2T>C	SNV Germline	Chr11:66849609	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_2135788673	1 SubmittersRCV002043993
NM_001040716.2(PC):c.913G>T (p.Glu305Ter)	SNV Germline	Chr11:66868955	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_1487446205	1 SubmittersRCV001921439
NM_001040716.2(PC):c.3288+2T>C	SNV Germline	Chr11:66849228	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_2135785388	1 SubmittersRCV001927018
NM_001040716.2(PC):c.2898+2T>C	SNV Germline	Chr11:66849935	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_2135791416	1 SubmittersRCV001995696
NM_001040716.2(PC):c.1123C>T (p.Gln375Ter)	SNV Germline	Chr11:66866249	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_1310884700	1 SubmittersRCV001951152
NM_001040716.2(PC):c.321+1G>T	SNV Germline	Chr11:66871686	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_2135941937	1 SubmittersRCV001949368
NM_001040716.2(PC):c.322-2A>G	SNV Germline	Chr11:66871482	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_2135940951	1 SubmittersRCV002048351
NM_001040716.2(PC):c.1918C>T (p.Gln640Ter)	SNV Germline	Chr11:66851854	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_2135809396	1 SubmittersRCV001935982
NM_001040716.2(PC):c.1088G>A (p.Arg363Gln)	SNV Germline	Chr11:66866284	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_752041697	2 SubmittersRCV001946349 RCV002561494
NM_001040716.2(PC):c.2473+1G>C	SNV Germline	Chr11:66850673	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_1304770743	1 SubmittersRCV001983485
NM_001040716.2(PC):c.1216C>T (p.Arg406Cys)	SNV Germline	Chr11:66863926	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_1358651584	1 SubmittersRCV002249120
NM_001040716.2(PC):c.1513+1G>A	SNV Germline	Chr11:66853238	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter		rs_1358550062	1 SubmittersRCV002254835
NM_001040716.2(PC):c.1582G>A (p.Val528Ile)	SNV Germline	Chr11:66852768	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV002306055 RCV003102285
NM_001040716.2(PC):c.280C>T (p.Gln94Ter)	SNV Unknown	Chr11:66871728	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002309929
NM_001040716.2(PC):c.2576C>A (p.Ser859Ter)	SNV Unknown	Chr11:66850362	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002308186
NM_001040716.2(PC):c.2674A>T (p.Lys892Ter)	SNV Unknown	Chr11:66850264	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002309072
NM_001040716.2(PC):c.220C>T (p.Gln74Ter)	SNV Unknown	Chr11:66871788	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002309380
NM_001040716.2(PC):c.706G>T (p.Glu236Ter)	SNV Unknown	Chr11:66870820	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002309426
NM_001040716.2(PC):c.2971G>T (p.Glu991Ter)	SNV Unknown	Chr11:66849787	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002310201
NM_001040716.2(PC):c.3288+1G>A	SNV Germline	Chr11:66849229	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003062414
NM_001040716.2(PC):c.2134G>A (p.Asp712Asn)	SNV Germline	Chr11:66851129	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV003095730 RCV003318741
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)	SNV Germline	Chr11:66852625	Pathogenic/Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003087326
NM_001040716.2(PC):c.137-5T>A	SNV Germline	Chr11:66871876	Conflicting classifications of pathogenicity	Inborn genetic diseases Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV002606617 RCV002623260
NM_001040716.2(PC):c.2285G>A (p.Arg762His)	SNV Germline	Chr11:66850862	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV002633613
NM_001040716.2(PC):c.1405C>T (p.Gln469Ter)	SNV Germline	Chr11:66853347	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002630229
NM_001040716.2(PC):c.3288+4T>C	SNV Germline	Chr11:66849226	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002941979 RCV003403965
NM_001040716.2(PC):c.2473+2T>C	SNV Germline	Chr11:66850672	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003011114
NM_001040716.2(PC):c.2613C>A (p.Tyr871Ter)	SNV Germline	Chr11:66850325	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002999782
NM_001040716.2(PC):c.3193G>A (p.Val1065Met)	SNV Germline	Chr11:66849325	Conflicting classifications of pathogenicity	Inborn genetic diseases Pyruvate carboxylase deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV002840709 RCV003603140
NM_001040716.2(PC):c.736G>A (p.Glu246Lys)	SNV Germline	Chr11:66870790	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV003228212 RCV003479507
NM_001040716.2(PC):c.370C>T (p.Arg124Ter)	SNV Unknown	Chr11:66871432	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003476620
NM_001040716.2(PC):c.2535C>A (p.Tyr845Ter)	SNV Unknown	Chr11:66850403	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003476621
NM_001040716.2(PC):c.1825+2T>G	SNV Unknown	Chr11:66852437	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003476622
NM_001040716.2(PC):c.2800C>T (p.Gln934Ter)	SNV Unknown	Chr11:66850035	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003476625
NM_001040716.2(PC):c.1826-1G>C	SNV Germline	Chr11:66851947	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003476627
NM_001040716.2(PC):c.634-1G>A	SNV Unknown	Chr11:66870893	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003476631
NM_001040716.2(PC):c.3316A>T (p.Lys1106Ter)	SNV Germline	Chr11:66849120	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003498883
NM_001040716.2(PC):c.136+1G>T	SNV Germline	Chr11:66872023	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003498333
NM_001040716.2(PC):c.1435C>T (p.Gln479Ter)	SNV Germline	Chr11:66853317	Pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003604954
NM_001040716.2(PC):c.3051T>A (p.Phe1017Leu)	SNV Germline	Chr11:66849707	Conflicting classifications of pathogenicity	Pyruvate carboxylase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003602725 RCV004373918
NM_001040716.2(PC):c.2755C>T (p.Gln919Ter)	SNV Unknown	Chr11:66850080	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004574440
NM_001040716.2(PC):c.826G>T (p.Glu276Ter)	SNV Unknown	Chr11:66870379	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004574442
NM_001040716.2(PC):c.3247C>T (p.Gln1083Ter)	SNV Unknown	Chr11:66849271	Likely pathogenic	Pyruvate carboxylase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004574445

NM_001040716.2(PC):c.1828G>A (p.Ala610Thr)

SNV
Germline

Chr11:66851944

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

CA339936

rs_28940589

2 SubmittersRCV000002175

NM_001040716.2(PC):c.2229G>T (p.Met743Ile)

SNV
Germline

Chr11:66850918

Pathogenic

Pyruvate carboxylase deficiency

No Assertion Criteria Provided

CA339938

rs_28940590

1 SubmittersRCV000002176

NM_001040716.2(PC):c.434T>C (p.Val145Ala)

SNV
Germline

Chr11:66871368

Pathogenic

Pyruvate carboxylase deficiency

No Assertion Criteria Provided

CA339940

rs_28940591

1 SubmittersRCV000002177

NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)

SNV
Germline

Chr11:66863791

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

CA339942

rs_113994143

2 SubmittersRCV000002178

NM_001040716.2(PC):c.1748G>T (p.Arg583Leu)

SNV
Germline

Chr11:66852516

Pathogenic

Pyruvate carboxylase deficiency

No Assertion Criteria Provided

CA252102

rs_119103242

1 SubmittersRCV000002182

NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)

SNV
Germline

Chr11:66851880

Pathogenic/Likely pathogenic

Pyruvate carboxylase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341754

rs_113994145

5 SubmittersRCV000020384 RCV000484861

NM_001040716.2(PC):c.2114C>A (p.Ser705Ter)

SNV
Germline

Chr11:66851149

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_113994146

1 SubmittersRCV003811121

NM_001040716.2(PC):c.2550C>T (p.Cys850=)

SNV
Germline

Chr11:66850388

Conflicting classifications of pathogenicity

not specified
Pyruvate carboxylase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292675

rs_61749179

4 SubmittersRCV000127316 RCV000347109 RCV003398745

NM_001040716.2(PC):c.1368+11G>A

SNV
Germline

Chr11:66863763

Conflicting classifications of pathogenicity

not specified
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA292686

rs_371731636

3 SubmittersRCV000127321 RCV001107031

NM_001040716.2(PC):c.3107G>A (p.Arg1036His)

SNV
Germline

Chr11:66849651

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA312911

rs_141237842

9 SubmittersRCV000437686 RCV000765003 RCV004020256

NM_001040716.2(PC):c.2723C>T (p.Thr908Met)

SNV
Germline

Chr11:66850112

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA312930

rs_796052032

2 SubmittersRCV000186130 RCV000675135

NM_001040716.2(PC):c.1767G>T (p.Lys589Asn)

SNV
Germline

Chr11:66852497

Conflicting classifications of pathogenicity

not specified
Pyruvate carboxylase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA312851

rs_143725101

3 SubmittersRCV000186103 RCV002513961 RCV003380511

NM_001040716.2(PC):c.1717G>A (p.Ala573Thr)

SNV
Germline

Chr11:66852547

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA312896

rs_796052029

3 SubmittersRCV000186118 RCV001824667 RCV003323437

NM_001040716.2(PC):c.1640G>A (p.Arg547Gln)

SNV
Germline

Chr11:66852624

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA312893

rs_142036463

2 SubmittersRCV000186117 RCV002516969

NM_001040716.2(PC):c.788G>A (p.Arg263Gln)

SNV
Germline

Chr11:66870417

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA312921

rs_769177104

3 SubmittersRCV000186127 RCV000632922

NM_001040716.2(PC):c.786G>T (p.Glu262Asp)

SNV
Germline

Chr11:66870419

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency
Inborn genetic diseases
PC-related disorder

Criteria Provided
Conflicting Classifications

CA312908

rs_200030109

5 SubmittersRCV000186122 RCV000664794 RCV002516970 RCV003895221

NM_001040716.2(PC):c.616G>T (p.Val206Leu)

SNV
Germline

Chr11:66871069

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA312918

rs_147945506

5 SubmittersRCV000676961 RCV001083901

NM_001040716.2(PC):c.496G>A (p.Val166Ile)

SNV
Germline

Chr11:66871189

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA312915

rs_147697454

6 SubmittersRCV000186125 RCV000765004 RCV003330549 RCV002516971

NM_001040716.2(PC):c.321+5G>A

SNV
Germline

Chr11:66871682

Conflicting classifications of pathogenicity

not specified
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA312914

rs_200766019

2 SubmittersRCV000186124 RCV000935621

NM_001040716.2(PC):c.89G>A (p.Arg30Gln)

SNV
Germline

Chr11:66872071

Conflicting classifications of pathogenicity

not specified
Pyruvate carboxylase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA312881

rs_199616332

4 SubmittersRCV000186113 RCV001104367 RCV002054188

NM_001040716.2(PC):c.50G>A (p.Arg17His)

SNV
Germline

Chr11:66872110

Conflicting classifications of pathogenicity

not specified
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA312875

rs_375282341

2 SubmittersRCV000186111 RCV001239120

NM_001040716.2(PC):c.879C>T (p.Ser293=)

SNV
Germline

Chr11:66870326

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6132083

rs_183131461

3 SubmittersRCV000292711 RCV001711910

NM_001040716.2(PC):c.1514-6C>T

SNV
Germline

Chr11:66852842

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA6131347

rs_745563711

2 SubmittersRCV000406206

NM_001040716.2(PC):c.715A>G (p.Ile239Val)

SNV
Germline

Chr11:66870811

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6132143

rs_148805312

4 SubmittersRCV000319569 RCV003128620

NM_001040716.2(PC):c.543C>T (p.His181=)

SNV
Germline

Chr11:66871142

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
PC-related disorder

Criteria Provided
Conflicting Classifications

CA6132189

rs_139717038

3 SubmittersRCV000374071 RCV003930296

NM_001040716.2(PC):c.3198C>T (p.Ser1066=)

SNV
Germline

Chr11:66849320

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6130863

rs_144087445

3 SubmittersRCV000330539 RCV001718619

NM_001040716.2(PC):c.1233C>T (p.Ser411=)

SNV
Germline

Chr11:66863909

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA6131935

rs_747247743

2 SubmittersRCV000362739

NM_001040716.2(PC):c.1023-14C>G

SNV
Germline

Chr11:66866363

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA6132003

rs_111858832

3 SubmittersRCV000332434

NM_001040716.2(PC):c.*15G>A

SNV
Germline

Chr11:66848884

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA6130758

rs_45501894

2 SubmittersRCV000260329 RCV000429446

NM_001040716.2(PC):c.3435G>T (p.Met1145Ile)

SNV
Germline

Chr11:66849001

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Condition: not provided
PC-related disorder

Criteria Provided
Conflicting Classifications

CA6130782

rs_201796252

4 SubmittersRCV000356215 RCV002461065 RCV003897696

NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)

SNV
Germline

Chr11:66849095

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6130812

rs_148492494

4 SubmittersRCV000263852 RCV002466484

NM_001040716.2(PC):c.927C>T (p.Thr309=)

SNV
Germline

Chr11:66868941

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA6132059

rs_373717650

3 SubmittersRCV000387000 RCV000612724

NM_001040716.2(PC):c.796T>G (p.Ser266Ala)

SNV
Germline

Chr11:66870409

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA16606005

rs_113994142

4 SubmittersRCV000431389 RCV000675077 RCV003235208

NM_001040716.2(PC):c.1181T>C (p.Ile394Thr)

SNV
Germline

Chr11:66866191

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA16606295

rs_1057520687

3 SubmittersRCV004022319 RCV000433773 RCV000675086

NM_001040716.2(PC):c.1023-14C>A

SNV
Germline

Chr11:66866363

Conflicting classifications of pathogenicity

not specified
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA6132005

rs_111858832

3 SubmittersRCV000442436 RCV001107690

NM_001040716.2(PC):c.3514G>A (p.Asp1172Asn)

SNV
Germline

Chr11:66848922

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA6130769

rs_568925019

2 SubmittersRCV000489791 RCV001851318

NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)

SNV
Germline

Chr11:66863785

Pathogenic/Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224087137

rs_768514713

3 SubmittersRCV000504155

NM_001040716.2(PC):c.1368+1G>A

SNV
Germline

Chr11:66863773

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA381497742

rs_755640269

2 SubmittersRCV000516896

NM_001040716.2(PC):c.2668G>T (p.Val890Phe)

SNV
Germline

Chr11:66850270

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

CA381492401

rs_1555014957

1 SubmittersRCV000576201

NM_001040716.2(PC):c.486G>A (p.Ala162=)

SNV
Germline

Chr11:66871316

Conflicting classifications of pathogenicity

not specified
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

CA6132216

rs_142416378

3 SubmittersRCV000612642 RCV001104063

NM_001040716.2(PC):c.1446C>T (p.Asp482=)

SNV
Germline

Chr11:66853306

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6131395

rs_145891535

4 SubmittersRCV001000777 RCV001706685

NM_001040716.2(PC):c.806G>A (p.Arg269Gln)

SNV
Germline

Chr11:66870399

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_1349343839

5 SubmittersRCV000665403

NM_001040716.2(PC):c.2606G>A (p.Gly869Asp)

SNV
Unknown

Chr11:66850332

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_1555015018

2 SubmittersRCV000670028

NM_001040716.2(PC):c.1022+1G>A

SNV
Unknown

Chr11:66868845

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_1555025823

1 SubmittersRCV000672699

NM_001040716.2(PC):c.52C>T (p.Arg18Ter)

SNV
Germline

Chr11:66872108

Pathogenic/Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_144583275

3 SubmittersRCV000669751

NM_001040716.2(PC):c.633+2T>C

SNV
Germline

Chr11:66871050

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_763433647

4 SubmittersRCV000666561

NM_001040716.2(PC):c.584C>T (p.Ala195Val)

SNV
Unknown

Chr11:66871101

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_1436643226

2 SubmittersRCV000667975

NM_001040716.2(PC):c.3391G>A (p.Val1131Met)

SNV
Germline

Chr11:66849045

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_116518022

4 SubmittersRCV000676956 RCV000707608 RCV002544683

NM_001040716.2(PC):c.2489G>A (p.Arg830His)

SNV
Germline

Chr11:66850449

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_773519800

3 SubmittersRCV000756461 RCV001855874 RCV004027126

NM_001040716.2(PC):c.1825+1G>A

SNV
Germline

Chr11:66852438

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_1565214970

2 SubmittersRCV000779075

NM_001040716.2(PC):c.1607C>T (p.Pro536Leu)

SNV
Germline

Chr11:66852657

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_751657066

3 SubmittersRCV000785069 RCV002535717

NM_001040716.2(PC):c.1512C>T (p.Leu504=)

SNV
Germline

Chr11:66853240

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Condition: not provided
PC-related disorder

Criteria Provided
Conflicting Classifications

rs_763298490

3 SubmittersRCV000815111 RCV003222142 RCV003955524

NM_001040716.2(PC):c.1075G>A (p.Asp359Asn)

SNV
Germline

Chr11:66866297

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780215837

2 SubmittersRCV000804917 RCV001556189

NM_001040716.2(PC):c.3531C>T (p.Ile1177=)

SNV
Germline

Chr11:66848905

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_144982348

3 SubmittersRCV000921391 RCV003456457

NM_001040716.2(PC):c.1530C>T (p.Asn510=)

SNV
Germline

Chr11:66852820

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_755162836

2 SubmittersRCV000919746

NM_001040716.2(PC):c.2899-9G>A

SNV
Germline

Chr11:66849868

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_372755874

2 SubmittersRCV000950205

NM_001040716.2(PC):c.3483T>C (p.His1161=)

SNV
Germline

Chr11:66848953

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_190223302

2 SubmittersRCV000979106

NM_001040716.2(PC):c.1589C>T (p.Pro530Leu)

SNV
Germline

Chr11:66852761

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_370248734

2 SubmittersRCV000976136

NM_001040716.2(PC):c.815A>G (p.Gln272Arg)

SNV
Unknown

Chr11:66870390

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_1591186383

1 SubmittersRCV000988582

NM_001040716.2(PC):c.*89G>A

SNV
Germline

Chr11:66848810

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_186152567

2 SubmittersRCV001103866 RCV001564456

NM_001040716.2(PC):c.3399G>A (p.Lys1133=)

SNV
Germline

Chr11:66849037

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_776825183

2 SubmittersRCV001105814

NM_001040716.2(PC):c.3213C>T (p.Ala1071=)

SNV
Germline

Chr11:66849305

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_774982916

2 SubmittersRCV001106924

NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)

SNV
Germline

Chr11:66850052

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755385132

5 SubmittersRCV001107591 RCV002556107 RCV002508291

NM_001040716.2(PC):c.2019C>A (p.Val673=)

SNV
Germline

Chr11:66851244

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_1591119887

2 SubmittersRCV001103978

NM_001040716.2(PC):c.1664G>A (p.Arg555Gln)

SNV
Germline

Chr11:66852600

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_148613404

2 SubmittersRCV001104268

NM_001040716.2(PC):c.1377C>T (p.Ile459=)

SNV
Germline

Chr11:66853375

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_201776268

2 SubmittersRCV001107030

NM_001040716.2(PC):c.1266C>T (p.Tyr422=)

SNV
Germline

Chr11:66863876

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_141324828

2 SubmittersRCV001107032

NM_001040716.2(PC):c.78C>A (p.Ser26=)

SNV
Germline

Chr11:66872082

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_1161512784

2 SubmittersRCV001104368

NM_001040716.2(PC):c.3148-14C>T

SNV
Germline

Chr11:66849384

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_773784306

2 SubmittersRCV001106925

NM_001040716.2(PC):c.2224-14C>T

SNV
Germline

Chr11:66850937

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_780315450

2 SubmittersRCV001103976

NM_001040716.2(PC):c.1514-13G>A

SNV
Germline

Chr11:66852849

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_773976056

2 SubmittersRCV001104269

NM_001040716.2(PC):c.904-11C>T

SNV
Germline

Chr11:66868975

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_200473405

2 SubmittersRCV001107691

NM_001040716.2(PC):c.751+13G>A

SNV
Germline

Chr11:66870762

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_374607634

2 SubmittersRCV001104061

NM_001040716.2(PC):c.1514-2A>G

SNV
Germline

Chr11:66852838

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_1945585636

1 SubmittersRCV001208930

NM_001040716.2(PC):c.903+2T>A

SNV
Germline

Chr11:66870300

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_1946669738

1 SubmittersRCV001214966

NM_001040716.2(PC):c.1480C>T (p.Gln494Ter)

SNV
Germline

Chr11:66853272

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_1945617407

1 SubmittersRCV001261600

NM_001040716.2(PC):c.2000A>C (p.Lys667Thr)

SNV
Germline

Chr11:66851263

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_138760063

3 SubmittersRCV001299753 RCV003318678 RCV004036148

NM_024036.5(LRFN4):c.1882G>T (p.Glu628Ter)

SNV
Unknown

Chr11:66860169

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_1230803568

1 SubmittersRCV001332612

NM_001040716.2(PC):c.1369-1G>C

SNV
Germline

Chr11:66853384

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_2135822173

1 SubmittersRCV001377234

NM_001040716.2(PC):c.3288+1G>T

SNV
Germline

Chr11:66849229

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_2135785399

1 SubmittersRCV001388927

NM_001040716.2(PC):c.1663C>T (p.Arg555Ter)

SNV
Germline

Chr11:66852601

Pathogenic/Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_766242199

2 SubmittersRCV001383248

NM_001040716.2(PC):c.1042C>T (p.Gln348Ter)

SNV
Germline

Chr11:66866330

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_2135917452

1 SubmittersRCV001386564

NM_001040716.2(PC):c.2754C>T (p.Ala918=)

SNV
Germline

Chr11:66850081

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_534275006

2 SubmittersRCV001491888 RCV002509684

NM_001040716.2(PC):c.1297G>A (p.Gly433Ser)

SNV
Germline

Chr11:66863845

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_908978048

2 SubmittersRCV001541841 RCV001501079

NM_001040716.2(PC):c.3242A>G (p.Asn1081Ser)

SNV
Germline

Chr11:66849276

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_745626388

2 SubmittersRCV001561390 RCV004571061

NM_001040716.2(PC):c.3409C>G (p.Leu1137Val)

SNV
Germline

Chr11:66849027

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_777927070

2 SubmittersRCV001763072 RCV003497934

NM_001040716.2(PC):c.1372A>G (p.Asn458Asp)

SNV
Germline

Chr11:66853380

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_2135822119

1 SubmittersRCV001774754

NM_001040716.2(PC):c.1983-116C>T

SNV
Germline

Chr11:66851396

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135805611

2 SubmittersRCV001774756

NM_001040716.2(PC):c.1876C>T (p.Arg626Trp)

SNV
Germline

Chr11:66851896

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

rs_1591122325

2 SubmittersRCV001774757

NM_001040716.2(PC):c.2606G>C (p.Gly869Ala)

SNV
Germline

Chr11:66850332

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_1555015018

1 SubmittersRCV001774758

NM_001040716.2(PC):c.2435C>A (p.Ala812Asp)

SNV
Germline

Chr11:66850712

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_2135798857

1 SubmittersRCV001774759

NM_001040716.2(PC):c.1186-1G>T

SNV
Germline

Chr11:66863957

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_2135904801

1 SubmittersRCV001784799

NM_001040716.2(PC):c.2194C>T (p.Arg732Ter)

SNV
Germline

Chr11:66851069

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_112948607

1 SubmittersRCV001782570

NM_001040716.2(PC):c.2278C>T (p.Arg760Trp)

SNV
Germline

Chr11:66850869

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_563526275

1 SubmittersRCV001824205

NM_001040716.2(PC):c.1345G>T (p.Glu449Ter)

SNV
Germline

Chr11:66863797

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_2135903791

1 SubmittersRCV001928241

NM_001040716.2(PC):c.1023-1G>A

SNV
Germline

Chr11:66866350

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_2135917561

1 SubmittersRCV001941742

NM_001040716.2(PC):c.1368+1G>T

SNV
Germline

Chr11:66863773

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_755640269

1 SubmittersRCV001995264

NM_001040716.2(PC):c.3147+2T>C

SNV
Germline

Chr11:66849609

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_2135788673

1 SubmittersRCV002043993

NM_001040716.2(PC):c.913G>T (p.Glu305Ter)

SNV
Germline

Chr11:66868955

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_1487446205

1 SubmittersRCV001921439

NM_001040716.2(PC):c.3288+2T>C

SNV
Germline

Chr11:66849228

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_2135785388

1 SubmittersRCV001927018

NM_001040716.2(PC):c.2898+2T>C

SNV
Germline

Chr11:66849935

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_2135791416

1 SubmittersRCV001995696

NM_001040716.2(PC):c.1123C>T (p.Gln375Ter)

SNV
Germline

Chr11:66866249

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_1310884700

1 SubmittersRCV001951152

NM_001040716.2(PC):c.321+1G>T

SNV
Germline

Chr11:66871686

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_2135941937

1 SubmittersRCV001949368

NM_001040716.2(PC):c.322-2A>G

SNV
Germline

Chr11:66871482

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_2135940951

1 SubmittersRCV002048351

NM_001040716.2(PC):c.1918C>T (p.Gln640Ter)

SNV
Germline

Chr11:66851854

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_2135809396

1 SubmittersRCV001935982

NM_001040716.2(PC):c.1088G>A (p.Arg363Gln)

SNV
Germline

Chr11:66866284

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_752041697

2 SubmittersRCV001946349 RCV002561494

NM_001040716.2(PC):c.2473+1G>C

SNV
Germline

Chr11:66850673

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_1304770743

1 SubmittersRCV001983485

NM_001040716.2(PC):c.1216C>T (p.Arg406Cys)

SNV
Germline

Chr11:66863926

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_1358651584

1 SubmittersRCV002249120

NM_001040716.2(PC):c.1513+1G>A

SNV
Germline

Chr11:66853238

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

rs_1358550062

1 SubmittersRCV002254835

NM_001040716.2(PC):c.1582G>A (p.Val528Ile)

SNV
Germline

Chr11:66852768

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002306055 RCV003102285

NM_001040716.2(PC):c.280C>T (p.Gln94Ter)

SNV
Unknown

Chr11:66871728

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002309929

NM_001040716.2(PC):c.2576C>A (p.Ser859Ter)

SNV
Unknown

Chr11:66850362

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002308186

NM_001040716.2(PC):c.2674A>T (p.Lys892Ter)

SNV
Unknown

Chr11:66850264

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002309072

NM_001040716.2(PC):c.220C>T (p.Gln74Ter)

SNV
Unknown

Chr11:66871788

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002309380

NM_001040716.2(PC):c.706G>T (p.Glu236Ter)

SNV
Unknown

Chr11:66870820

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002309426

NM_001040716.2(PC):c.2971G>T (p.Glu991Ter)

SNV
Unknown

Chr11:66849787

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002310201

NM_001040716.2(PC):c.3288+1G>A

SNV
Germline

Chr11:66849229

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003062414

NM_001040716.2(PC):c.2134G>A (p.Asp712Asn)

SNV
Germline

Chr11:66851129

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003095730 RCV003318741

NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)

SNV
Germline

Chr11:66852625

Pathogenic/Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003087326

NM_001040716.2(PC):c.137-5T>A

SNV
Germline

Chr11:66871876

Conflicting classifications of pathogenicity

Inborn genetic diseases
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002606617 RCV002623260

NM_001040716.2(PC):c.2285G>A (p.Arg762His)

SNV
Germline

Chr11:66850862

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002633613

NM_001040716.2(PC):c.1405C>T (p.Gln469Ter)

SNV
Germline

Chr11:66853347

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002630229

NM_001040716.2(PC):c.3288+4T>C

SNV
Germline

Chr11:66849226

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002941979 RCV003403965

NM_001040716.2(PC):c.2473+2T>C

SNV
Germline

Chr11:66850672

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003011114

NM_001040716.2(PC):c.2613C>A (p.Tyr871Ter)

SNV
Germline

Chr11:66850325

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002999782

NM_001040716.2(PC):c.3193G>A (p.Val1065Met)

SNV
Germline

Chr11:66849325

Conflicting classifications of pathogenicity

Inborn genetic diseases
Pyruvate carboxylase deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002840709 RCV003603140

NM_001040716.2(PC):c.736G>A (p.Glu246Lys)

SNV
Germline

Chr11:66870790

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003228212 RCV003479507

NM_001040716.2(PC):c.370C>T (p.Arg124Ter)

SNV
Unknown

Chr11:66871432

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003476620

NM_001040716.2(PC):c.2535C>A (p.Tyr845Ter)

SNV
Unknown

Chr11:66850403

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003476621

NM_001040716.2(PC):c.1825+2T>G

SNV
Unknown

Chr11:66852437

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003476622

NM_001040716.2(PC):c.2800C>T (p.Gln934Ter)

SNV
Unknown

Chr11:66850035

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003476625

NM_001040716.2(PC):c.1826-1G>C

SNV
Germline

Chr11:66851947

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003476627

NM_001040716.2(PC):c.634-1G>A

SNV
Unknown

Chr11:66870893

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003476631

NM_001040716.2(PC):c.3316A>T (p.Lys1106Ter)

SNV
Germline

Chr11:66849120

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003498883

NM_001040716.2(PC):c.136+1G>T

SNV
Germline

Chr11:66872023

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003498333

NM_001040716.2(PC):c.1435C>T (p.Gln479Ter)

SNV
Germline

Chr11:66853317

Pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003604954

NM_001040716.2(PC):c.3051T>A (p.Phe1017Leu)

SNV
Germline

Chr11:66849707

Conflicting classifications of pathogenicity

Pyruvate carboxylase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003602725 RCV004373918

NM_001040716.2(PC):c.2755C>T (p.Gln919Ter)

SNV
Unknown

Chr11:66850080

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004574440

NM_001040716.2(PC):c.826G>T (p.Glu276Ter)

SNV
Unknown

Chr11:66870379

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004574442

NM_001040716.2(PC):c.3247C>T (p.Gln1083Ter)

SNV
Unknown

Chr11:66849271

Likely pathogenic

Pyruvate carboxylase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004574445