Total 263 pathogenic variants reported for Pyruvate carboxylase deficiency 
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
Multiple Submitters
No Conflicts
CA339936 rs_28940589

3 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
Multiple Submitters
No Conflicts
CA339942 rs_113994143

3 SubmittersRCV000002178

NM_001040716.2(PC):c.467G>A (p.Arg156Gln) SNV
Germline
Chr11:66871335 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency No Assertion Criteria Provided
CA252100 rs_119103241

2 SubmittersRCV000002181

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

6 SubmittersRCV000020384RCV000484861

NM_001040716.2(PC):c.2114C>A (p.Ser705Ter) SNV
Germline
Chr11:66851149 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA341756 rs_113994146

1 SubmittersRCV003811121

NM_001040716.2(PC):c.2550C>T (p.Cys850=) SNV
Germline
Chr11:66850388 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA292675 rs_61749179

4 SubmittersRCV000347109RCV000127316RCV003398745

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 SubmittersRCV000127321RCV001107031

NM_001040716.2(PC):c.3107G>A (p.Arg1036His) SNV
Germline
Chr11:66849651 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA312911 rs_141237842

10 SubmittersRCV000765003RCV000437686RCV004020256

NM_001040716.2(PC):c.2723C>T (p.Thr908Met) SNV
Germline
Chr11:66850112 Likely pathogenic Condition: not provided
Pyruvate carboxylase deficiency
Criteria Provided
Single Submitter
CA312930 rs_796052032

2 SubmittersRCV000186130RCV000675135

NM_001040716.2(PC):c.2195G>A (p.Arg732Gln) SNV
Germline
Chr11:66851068 Conflicting classifications of pathogenicity not specified
Pyruvate carboxylase deficiency
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA312857 rs_773872994

3 SubmittersRCV000186105RCV003497839RCV004955307

NM_001040716.2(PC):c.2182G>A (p.Glu728Lys) SNV
Germline
Chr11:66851081 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA312854 rs_193271416

2 SubmittersRCV003081639RCV005465893

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 SubmittersRCV000186103RCV002513961RCV003380511

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 SubmittersRCV000186118RCV001824667RCV003323437

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 SubmittersRCV000186117RCV002516969

NM_001040716.2(PC):c.788G>A (p.Arg263Gln) SNV
Germline
Chr11:66870417 Conflicting classifications of pathogenicity Condition: not provided
Pyruvate carboxylase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA312921 rs_769177104

4 SubmittersRCV000186127RCV000632922RCV005055687

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
not specified
Criteria Provided
Conflicting Classifications
CA312908 rs_200030109

6 SubmittersRCV000186122RCV000664794RCV002516970RCV003895221RCV005418002

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 SubmittersRCV000676961RCV001083901

NM_001040716.2(PC):c.496G>A (p.Val166Ile) SNV
Germline
Chr11:66871189 Conflicting classifications of pathogenicity Condition: not provided
Pyruvate carboxylase deficiency
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA312915 rs_147697454

6 SubmittersRCV000186125RCV000765004RCV002516971RCV003330549

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 SubmittersRCV000186124RCV000935621

NM_001040716.2(PC):c.89G>A (p.Arg30Gln) SNV
Germline
Chr11:66872071 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA312881 rs_199616332

4 SubmittersRCV001104367RCV002054188

NM_001040716.2(PC):c.50G>A (p.Arg17His) SNV
Germline
Chr11:66872110 Conflicting classifications of pathogenicity not specified
Pyruvate carboxylase deficiency
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA312875 rs_375282341

3 SubmittersRCV000186111RCV001239120RCV004649088

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 SubmittersRCV000292711RCV001711910

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 SubmittersRCV000319569RCV003128620

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 SubmittersRCV000374071RCV003930296

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 SubmittersRCV000330539RCV001718619

NM_001040716.2(PC):c.1702A>G (p.Thr568Ala) SNV
Germline
Chr11:66852562 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6131288 rs_199969388

3 SubmittersRCV000402939RCV001706456

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 SubmittersRCV000260329RCV000429446

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 SubmittersRCV000356215RCV002461065RCV003897696

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 SubmittersRCV000263852RCV002466484

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 SubmittersRCV000387000RCV000612724

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 SubmittersRCV000431389RCV000675077RCV003235208

NM_001040716.2(PC):c.1181T>C (p.Ile394Thr) SNV
Germline
Chr11:66866191 Conflicting classifications of pathogenicity Condition: not provided
Pyruvate carboxylase deficiency
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA16606295 rs_1057520687

3 SubmittersRCV000433773RCV000675086RCV004022319

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 SubmittersRCV000442436RCV001107690

NM_001040716.2(PC):c.3514G>A (p.Asp1172Asn) SNV
Germline
Chr11:66848922 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6130769 rs_568925019

3 SubmittersRCV001851318RCV000489791RCV005384735

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

3 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 SubmittersRCV000612642RCV001104063

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 SubmittersRCV001000777RCV001706685

NM_001040716.2(PC):c.806G>A (p.Arg269Gln) SNV
Germline
Chr11:66870399 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA381501381 rs_1349343839

7 SubmittersRCV000665403RCV005401565

NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) SNV
Unknown
Chr11:66850332 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381492596 rs_1555015018

2 SubmittersRCV000670028

NM_001040716.2(PC):c.1022+1G>A SNV
Unknown
Chr11:66868845 Likely pathogenic Pyruvate carboxylase deficiency No Assertion Criteria Provided
CA381500210 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
CA381503550 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
CA6132175 rs_763433647

4 SubmittersRCV000666561

NM_001040716.2(PC):c.584C>T (p.Ala195Val) SNV
Unknown
Chr11:66871101 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381502107 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
CA6130791 rs_116518022

4 SubmittersRCV000676956RCV000707608RCV002544683

NM_001040716.2(PC):c.3462G>C (p.Glu1154Asp) SNV
Germline
Chr11:66848974 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6130780 rs_373287823

3 SubmittersRCV000691801RCV005463082RCV004822173

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
CA6131047 rs_773519800

3 SubmittersRCV000756461RCV001855874RCV004027126

NM_001040716.2(PC):c.2469C>T (p.Asp823=) SNV
Germline
Chr11:66850678 Conflicting classifications of pathogenicity Condition: not provided
Pyruvate carboxylase deficiency
PC-related disorder
Criteria Provided
Conflicting Classifications
CA6131078 rs_145654496

5 SubmittersRCV000756462RCV001083582RCV004757276

NM_001040716.2(PC):c.1825+1G>A SNV
Germline
Chr11:66852438 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381494812 rs_1565214970

1 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
CA6131310 rs_751657066

3 SubmittersRCV000785069RCV002535717

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
CA6131387 rs_763298490

3 SubmittersRCV000815111RCV003222142RCV003955524

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
CA6131992 rs_780215837

2 SubmittersRCV000804917RCV001556189

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
CA6130766 rs_144982348

3 SubmittersRCV000921391RCV003456457

NM_001040716.2(PC):c.1530C>T (p.Asn510=) SNV
Germline
Chr11:66852820 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
PC-related disorder
Criteria Provided
Conflicting Classifications
CA6131343 rs_755162836

3 SubmittersRCV000919746RCV004757332

NM_001040716.2(PC):c.2899-9G>A SNV
Germline
Chr11:66849868 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency Criteria Provided
Conflicting Classifications
CA6130934 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
CA6130773 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
CA6131330 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
CA381501334 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
CA224120368 rs_186152567

2 SubmittersRCV001103866RCV001564456

NM_001040716.2(PC):c.3399G>A (p.Lys1133=) SNV
Germline
Chr11:66849037 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency Criteria Provided
Conflicting Classifications
CA6130789 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
CA6130856 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
CA6130975 rs_755385132

5 SubmittersRCV001107591RCV002556107RCV002508291

NM_001040716.2(PC):c.2019C>A (p.Val673=) SNV
Germline
Chr11:66851244 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency Criteria Provided
Conflicting Classifications
CA475501056 rs_1591119887

2 SubmittersRCV001103978

NM_001040716.2(PC):c.1664G>A (p.Arg555Gln) SNV
Germline
Chr11:66852600 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6131296 rs_148613404

3 SubmittersRCV001104268RCV005432579

NM_001040716.2(PC):c.1377C>T (p.Ile459=) SNV
Germline
Chr11:66853375 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency Criteria Provided
Conflicting Classifications
CA224124218 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
CA6131926 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
CA475376860 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
CA6130876 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
CA6131126 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
CA6131352 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
CA6132065 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
CA6132132 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
CA381496104 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
CA381501044 rs_1946669738

1 SubmittersRCV001214966

NM_001040716.2(PC):c.1771G>A (p.Ala591Thr) SNV
Germline
Chr11:66852493 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6131274 rs_139795235

3 SubmittersRCV001239246RCV001760259

NM_001040716.2(PC):c.1480C>T (p.Gln494Ter) SNV
Germline
Chr11:66853272 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381496287 rs_1945617407

1 SubmittersRCV001261600

NM_001040716.2(PC):c.2000A>C (p.Lys667Thr) SNV
Germline
Chr11:66851263 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Pyruvate carboxylase deficiency
Criteria Provided
Conflicting Classifications
CA6131184 rs_138760063

3 SubmittersRCV003318678RCV004036148RCV001299753

NM_001040716.2(PC):c.1368+3605C>A SNV
Unknown
Chr11:66860169 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381495513 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
CA381496710 rs_2135822173

1 SubmittersRCV001377234

NM_001040716.2(PC):c.3288+1G>T SNV
Germline
Chr11:66849229 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381489830 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
CA6131297 rs_766242199

3 SubmittersRCV001383248

NM_001040716.2(PC):c.1042C>T (p.Gln348Ter) SNV
Germline
Chr11:66866330 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381499684 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
CA6130979 rs_534275006

2 SubmittersRCV001491888RCV002509684

NM_001040716.2(PC):c.1874G>A (p.Arg625Gln) SNV
Germline
Chr11:66851898 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6131232 rs_199568784

2 SubmittersRCV001501081RCV004952952

NM_001040716.2(PC):c.1297G>A (p.Gly433Ser) SNV
Germline
Chr11:66863845 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA224087173 rs_908978048

2 SubmittersRCV001501079RCV001541841

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
CA6130851 rs_745626388

2 SubmittersRCV001561390RCV004571061

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
CA6130785 rs_777927070

2 SubmittersRCV001763072RCV003497934

NM_001040716.2(PC):c.1372A>G (p.Asn458Asp) SNV
Germline
Chr11:66853380 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381496695 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
CA2573053549 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
CA381494588 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
CA381492594 rs_1555015018

1 SubmittersRCV001774758

NM_001040716.2(PC):c.2435C>A (p.Ala812Asp) SNV
Germline
Chr11:66850712 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA381492979 rs_2135798857

2 SubmittersRCV001774759

NM_001040716.2(PC):c.1186-1G>T SNV
Germline
Chr11:66863957 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381499090 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
CA381493500 rs_112948607

1 SubmittersRCV001782570

NM_001040716.2(PC):c.2278C>T (p.Arg760Trp) SNV
Germline
Chr11:66850869 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency Criteria Provided
Conflicting Classifications
CA6131104 rs_563526275

2 SubmittersRCV001824205

NM_001040716.2(PC):c.1345G>T (p.Glu449Ter) SNV
Germline
Chr11:66863797 Pathogenic/Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA381497858 rs_2135903791

2 SubmittersRCV001928241

NM_001040716.2(PC):c.1023-1G>A SNV
Germline
Chr11:66866350 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381499772 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
CA6131911 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
CA381490866 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
CA381500517 rs_1487446205

1 SubmittersRCV001921439

NM_001040716.2(PC):c.3288+2T>C SNV
Germline
Chr11:66849228 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381489827 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
CA381491707 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
CA381499510 rs_1310884700

1 SubmittersRCV001951152

NM_001040716.2(PC):c.321+1G>T SNV
Germline
Chr11:66871686 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381502701 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
CA381502695 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
CA381494451 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
CA6131987 rs_752041697

2 SubmittersRCV001946349RCV002561494

NM_001040716.2(PC):c.2473+1G>C SNV
Germline
Chr11:66850673 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381492902 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
CA381498956 rs_1358651584

1 SubmittersRCV002249120

NM_001040716.2(PC):c.1513+1G>A SNV
Germline
Chr11:66853238 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381496171 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
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6131331 rs_200433873

3 SubmittersRCV002306055RCV003102285RCV005382415

NM_001040716.2(PC):c.280C>T (p.Gln94Ter) SNV
Germline
Chr11:66871728 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA224095752 rs_867332885

2 SubmittersRCV002309929

NM_001040716.2(PC):c.2576C>A (p.Ser859Ter) SNV
Unknown
Chr11:66850362 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381492664 rs_1356000803

1 SubmittersRCV002308186

NM_001040716.2(PC):c.2674A>T (p.Lys892Ter) SNV
Unknown
Chr11:66850264 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381492382 rs_748009590

1 SubmittersRCV002309072

NM_001040716.2(PC):c.220C>T (p.Gln74Ter) SNV
Unknown
Chr11:66871788 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381502933 rs_2495799331

1 SubmittersRCV002309380

NM_001040716.2(PC):c.706G>T (p.Glu236Ter) SNV
Unknown
Chr11:66870820 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381501838 rs_2495774531

1 SubmittersRCV002309426

NM_001040716.2(PC):c.2971G>T (p.Glu991Ter) SNV
Germline
Chr11:66849787 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA381491450 rs_2495406056

2 SubmittersRCV002310201

NM_001040716.2(PC):c.662A>T (p.Tyr221Phe) SNV
Germline
Chr11:66870864 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA381501927 rs_1334114597

2 SubmittersRCV003050950RCV005382535

NM_001040716.2(PC):c.3288+1G>A SNV
Germline
Chr11:66849229 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381489832 rs_2135785399

1 SubmittersRCV003062414

NM_001040716.2(PC):c.3497T>C (p.Met1166Thr) SNV
Germline
Chr11:66848939 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6130771 rs_147594996

3 SubmittersRCV003060931RCV005399083RCV005429406

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
CA6131166 rs_185412729

2 SubmittersRCV003095730RCV003318741

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
CA381495508 rs_1415973565

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
CA224096028 rs_918437272

2 SubmittersRCV002606617RCV002623260

NM_001040716.2(PC):c.2285G>A (p.Arg762His) SNV
Germline
Chr11:66850862 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6131101 rs_574858955

3 SubmittersRCV002633613RCV004661593

NM_001040716.2(PC):c.3209G>A (p.Arg1070Gln) SNV
Germline
Chr11:66849309 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6130859 rs_368783983

2 SubmittersRCV002644492RCV005467917

NM_001040716.2(PC):c.1405C>T (p.Gln469Ter) SNV
Germline
Chr11:66853347 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381496562 rs_770383752

1 SubmittersRCV002630229

NM_001040716.2(PC):c.1574C>T (p.Thr525Met) SNV
Germline
Chr11:66852776 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6131335 rs_146840773

2 SubmittersRCV002932545RCV004958833

NM_001040716.2(PC):c.3288+4T>C SNV
Germline
Chr11:66849226 Conflicting classifications of pathogenicity Condition: not provided
Pyruvate carboxylase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA6130846 rs_753961343

3 SubmittersRCV003403965RCV002941979RCV004690333

NM_001040716.2(PC):c.2473+2T>C SNV
Germline
Chr11:66850672 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381492899 rs_2495436147

1 SubmittersRCV003011114

NM_001040716.2(PC):c.2613C>A (p.Tyr871Ter) SNV
Germline
Chr11:66850325 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA6131027 rs_776114073

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
CA6130864 rs_778839142

2 SubmittersRCV002840709RCV003603140

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
CA381501771 rs_2495773703

2 SubmittersRCV003228212RCV003479507

NM_001040716.2(PC):c.370C>T (p.Arg124Ter) SNV
Unknown
Chr11:66871432 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381502580 rs_1946727506

1 SubmittersRCV003476620

NM_001040716.2(PC):c.2535C>A (p.Tyr845Ter) SNV
Unknown
Chr11:66850403 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381492755 rs_534635326

1 SubmittersRCV003476621

NM_001040716.2(PC):c.1825+2T>G SNV
Unknown
Chr11:66852437 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381494805 rs_946554235

1 SubmittersRCV003476622

NM_001040716.2(PC):c.2800C>T (p.Gln934Ter) SNV
Unknown
Chr11:66850035 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381491957 rs_1945380233

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
CA381494761 rs_2495474689

2 SubmittersRCV003476627

NM_001040716.2(PC):c.634-1G>A SNV
Unknown
Chr11:66870893 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381501994 rs_1486094843

1 SubmittersRCV003476631

NM_001040716.2(PC):c.3316A>T (p.Lys1106Ter) SNV
Germline
Chr11:66849120 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381489698 rs_2495382261

1 SubmittersRCV003498883

NM_001040716.2(PC):c.1343C>T (p.Ala448Val) SNV
Germline
Chr11:66863799 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6131914 rs_774835884

2 SubmittersRCV003499128RCV005387191

NM_001040716.2(PC):c.1072C>T (p.Pro358Ser) SNV
Germline
Chr11:66866300 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6131994 rs_201125422

2 SubmittersRCV003499745RCV004661689

NM_001040716.2(PC):c.169A>G (p.Thr57Ala) SNV
Germline
Chr11:66871839 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6132281 rs_148913798

3 SubmittersRCV003499820RCV004780579RCV005392639

NM_001040716.2(PC):c.136+1G>T SNV
Germline
Chr11:66872023 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381503337 rs_2495804812

1 SubmittersRCV003498333

NM_001040716.2(PC):c.1435C>T (p.Gln479Ter) SNV
Germline
Chr11:66853317 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
CA381496453 rs_2495509213

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
CA6130913 rs_542809148

2 SubmittersRCV003602725RCV004373918

NM_001040716.2(PC):c.2942C>T (p.Ser981Phe) SNV
Germline
Chr11:66849816 Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA224122167 rs_1057035880

2 SubmittersRCV003603628RCV005603842

NM_001040716.2(PC):c.2755C>T (p.Gln919Ter) SNV
Unknown
Chr11:66850080 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
rs_1196710763

1 SubmittersRCV004574440

NM_001040716.2(PC):c.826G>T (p.Glu276Ter) SNV
Unknown
Chr11:66870379 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
rs_1018564264

1 SubmittersRCV004574442

NM_001040716.2(PC):c.3247C>T (p.Gln1083Ter) SNV
Unknown
Chr11:66849271 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
rs_2495388599

1 SubmittersRCV004574445

NM_001040716.2(PC):c.2699T>A (p.Met900Lys) SNV
Germline
Chr11:66850239 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
rs_2495421234

1 SubmittersRCV004586455

NM_001040716.2(PC):c.467G>C (p.Arg156Pro) SNV
Germline
Chr11:66871335 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter
rs_119103241

1 SubmittersRCV004586456

NM_001040716.2(PC):c.1368+1G>C SNV
Germline
Chr11:66863773 Likely pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005051095

NM_001040716.2(PC):c.787C>T (p.Arg263Ter) SNV
Germline
Chr11:66870418 Pathogenic Pyruvate carboxylase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005418859