| - GRCh37:
- Chr11:66638261
- GRCh38:
- Chr11:66870790
| PC | E246K | Pyruvate carboxylase deficiency | Likely pathogenic (May 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66638674
- GRCh38:
- Chr11:66871203
| PC | | Pyruvate carboxylase deficiency | Uncertain significance (Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617804
- GRCh38:
- Chr11:66850333
| PC | G869S | Pyruvate carboxylase deficiency | Uncertain significance (Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617771
- GRCh38:
- Chr11:66850300
| PC | S880G | Pyruvate carboxylase deficiency | Uncertain significance (May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66618507
- GRCh38:
- Chr11:66851036
| PC | | Pyruvate carboxylase deficiency | Uncertain significance (Feb 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66633748-66633750
- GRCh38:
- Chr11:66866277-66866279
| PC | E365del | Pyruvate carboxylase deficiency | Uncertain significance (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66618734
- GRCh38:
- Chr11:66851263
| PC | K667R | Pyruvate carboxylase deficiency | Uncertain significance (Sep 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66639319
- GRCh38:
- Chr11:66871848
| PC | R54W | Pyruvate carboxylase deficiency | Uncertain significance (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617221
- GRCh38:
- Chr11:66849750
| PC | T1003fs | Pyruvate carboxylase deficiency | Pathogenic (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66620201
- GRCh38:
- Chr11:66852730
| PC | | Pyruvate carboxylase deficiency | Likely benign (Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66638367
- GRCh38:
- Chr11:66870896
| PC | | Pyruvate carboxylase deficiency | Likely benign (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66639323
- GRCh38:
- Chr11:66871852
| PC | | Pyruvate carboxylase deficiency | Likely benign (Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617240
- GRCh38:
- Chr11:66849769
| PC | R997W | Pyruvate carboxylase deficiency | Uncertain significance (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66619245
- GRCh38:
- Chr11:66851774
| PC | | Pyruvate carboxylase deficiency | Likely benign (Nov 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617524
- GRCh38:
- Chr11:66850053
| PC | R928W | Pyruvate carboxylase deficiency | Uncertain significance (Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617742
- GRCh38:
- Chr11:66850271
| PC | | Pyruvate carboxylase deficiency | Likely benign (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66633819
- GRCh38:
- Chr11:66866348
| PC | V342I | Pyruvate carboxylase deficiency | Uncertain significance (Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66638676
- GRCh38:
- Chr11:66871205
| PC | | Pyruvate carboxylase deficiency | Likely benign (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66620143
- GRCh38:
- Chr11:66852672
| PC | | Pyruvate carboxylase deficiency | Likely benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66631300
- GRCh38:
- Chr11:66863829
| PC | T438M | Pyruvate carboxylase deficiency | Uncertain significance (Sep 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617481
- GRCh38:
- Chr11:66850010
| PC | R942H | Pyruvate carboxylase deficiency | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66616780
- GRCh38:
- Chr11:66849309
| PC | R1070Q | Pyruvate carboxylase deficiency | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66638834
- GRCh38:
- Chr11:66871363
| PC | R147C | Inborn genetic diseases, Pyruvate carboxylase deficiency | Uncertain significance (May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:66618525
- GRCh38:
- Chr11:66851054
| PC | I737V | Inborn genetic diseases, Pyruvate carboxylase deficiency | Uncertain significance (Mar 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:66637755
- GRCh38:
- Chr11:66870284
| PC | | Pyruvate carboxylase deficiency | Likely benign (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66636318
- GRCh38:
- Chr11:66868847
| PC | D341N | Pyruvate carboxylase deficiency | Uncertain significance (Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66616521
- GRCh38:
- Chr11:66849050
| PC | A1129V | Pyruvate carboxylase deficiency | Likely benign (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66616790
- GRCh38:
- Chr11:66849319
| PC | D1067N | Pyruvate carboxylase deficiency | Uncertain significance (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66618333
- GRCh38:
- Chr11:66850862
| PC | R762H | Pyruvate carboxylase deficiency | Likely benign (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66631364
- GRCh38:
- Chr11:66863893
| PC | V417I | Pyruvate carboxylase deficiency | Likely benign (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66638571
- GRCh38:
- Chr11:66871100
| PC | | Pyruvate carboxylase deficiency | Likely benign (Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66631255
- GRCh38:
- Chr11:66863784
| PC | R453Q | Pyruvate carboxylase deficiency | Uncertain significance (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66620063
- GRCh38:
- Chr11:66852592
| PC | R558W | Pyruvate carboxylase deficiency | Uncertain significance (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66638963
- GRCh38:
- Chr11:66871492
| PC | | Pyruvate carboxylase deficiency | Likely benign (Nov 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617886
- GRCh38:
- Chr11:66850415
| PC | | Pyruvate carboxylase deficiency | Likely benign (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66616794
- GRCh38:
- Chr11:66849323
| PC | | Pyruvate carboxylase deficiency | Likely benign (Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66639347
- GRCh38:
- Chr11:66871876
| PC | | Inborn genetic diseases, Pyruvate carboxylase deficiency | Conflicting interpretations of pathogenicity (Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:66619993
- GRCh38:
- Chr11:66852522
| PC | R581H | Pyruvate carboxylase deficiency | Uncertain significance (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66638943
- GRCh38:
- Chr11:66871472
| PC | | Pyruvate carboxylase deficiency | Likely benign (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66638377
- GRCh38:
- Chr11:66870906
| PC | | Pyruvate carboxylase deficiency | Likely benign (May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617551
- GRCh38:
- Chr11:66850080
| PC | Q919K | Pyruvate carboxylase deficiency | Uncertain significance (Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66620052
- GRCh38:
- Chr11:66852581
| PC | | Pyruvate carboxylase deficiency | Likely benign (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617802
- GRCh38:
- Chr11:66850331
| PC | | Pyruvate carboxylase deficiency | Uncertain significance (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617322
- GRCh38:
- Chr11:66849851
| PC | | Pyruvate carboxylase deficiency | Likely benign (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66620096
- GRCh38:
- Chr11:66852625
| PC | R547* | Pyruvate carboxylase deficiency | Pathogenic (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617592
- GRCh38:
- Chr11:66850121
| PC | | Pyruvate carboxylase deficiency | Likely benign (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66618600
- GRCh38:
- Chr11:66851129
| PC | D712N | Pyruvate carboxylase deficiency | Uncertain significance (Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66638236
- GRCh38:
- Chr11:66870765
| PC | | Pyruvate carboxylase deficiency | Likely benign (Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66638298
- GRCh38:
- Chr11:66870827
| PC | | Pyruvate carboxylase deficiency | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617239
- GRCh38:
- Chr11:66849768
| PC | R997Q | Pyruvate carboxylase deficiency | Uncertain significance (Dec 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66620277
- GRCh38:
- Chr11:66852806
| PC | P515L | Inborn genetic diseases, Pyruvate carboxylase deficiency | Uncertain significance (Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:66618325
- GRCh38:
- Chr11:66850854
| PC | D765N | Pyruvate carboxylase deficiency | Likely benign (Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66616638
- GRCh38:
- Chr11:66849167
| PC | | Pyruvate carboxylase deficiency | Likely benign (Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617678
- GRCh38:
- Chr11:66850207
| PC | | Pyruvate carboxylase deficiency | Likely benign (Aug 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66639264
- GRCh38:
- Chr11:66871793
| PC | T72M | Pyruvate carboxylase deficiency | Uncertain significance (Feb 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66616445
- GRCh38:
- Chr11:66848974
| PC | | Pyruvate carboxylase deficiency | Likely benign (Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66633740
- GRCh38:
- Chr11:66866269
| PC | R368H | Pyruvate carboxylase deficiency | Uncertain significance (Mar 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:66620053
- GRCh38:
- Chr11:66852582
| PC | P561L | Pyruvate carboxylase deficiency | Uncertain significance (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66619994
- GRCh38:
- Chr11:66852523
| PC | R581C | Pyruvate carboxylase deficiency | Uncertain significance (Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66616853
- GRCh38:
- Chr11:66849382
| PC | | Pyruvate carboxylase deficiency | Likely benign (Aug 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617441
- GRCh38:
- Chr11:66849970
| PC | | Pyruvate carboxylase deficiency | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66616850
- GRCh38:
- Chr11:66849379
| PC | | Pyruvate carboxylase deficiency | Likely benign (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66618238
- GRCh38:
- Chr11:66850767
| PC | V794L | Pyruvate carboxylase deficiency | Uncertain significance (Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66618552
- GRCh38:
- Chr11:66851081
| PC | E728K | Pyruvate carboxylase deficiency | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66638594
- GRCh38:
- Chr11:66871123
| PC | G188S | Pyruvate carboxylase deficiency | Uncertain significance (May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66636387
- GRCh38:
- Chr11:66868916
| PC | G318S | Pyruvate carboxylase deficiency | Uncertain significance (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66618165
- GRCh38:
- Chr11:66850694
| PC | R818T | Pyruvate carboxylase deficiency | Likely benign (Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66633834
- GRCh38:
- Chr11:66866363
| PC | | Pyruvate carboxylase deficiency | Likely benign (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66637856
- GRCh38:
- Chr11:66870385
| PC | V274M | Pyruvate carboxylase deficiency | Uncertain significance (Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66618542
- GRCh38:
- Chr11:66851071
| PC | V731A | Pyruvate carboxylase deficiency | Uncertain significance (Mar 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617187
- GRCh38:
- Chr11:66849716
| PC | | Pyruvate carboxylase deficiency | Likely benign (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66620319
- GRCh38:
- Chr11:66852848
| PC | | Pyruvate carboxylase deficiency | Likely benign (Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66618564
- GRCh38:
- Chr11:66851093
| PC | M724L | Pyruvate carboxylase deficiency | Uncertain significance (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617501
- GRCh38:
- Chr11:66850030
| PC | | Pyruvate carboxylase deficiency | Likely benign (Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66616410
- GRCh38:
- Chr11:66848939
| PC | M1166T | Pyruvate carboxylase deficiency | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66639519
- GRCh38:
- Chr11:66872048
| PC | K38Q | Pyruvate carboxylase deficiency | Likely benign (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66633820
- GRCh38:
- Chr11:66866349
| PC | | Pyruvate carboxylase deficiency | Uncertain significance (Sep 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66636304
- GRCh38:
- Chr11:66868833
| PC | | Pyruvate carboxylase deficiency | Likely benign (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66619988
- GRCh38:
- Chr11:66852517
| PC | R583C | Pyruvate carboxylase deficiency | Uncertain significance (Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66633666
- GRCh38:
- Chr11:66866195
| PC | R393C | Inborn genetic diseases, Pyruvate carboxylase deficiency | Uncertain significance (Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:66638863
- GRCh38:
- Chr11:66871392
| PC | R137Q | Pyruvate carboxylase deficiency | Uncertain significance (Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66638335
- GRCh38:
- Chr11:66870864
| PC | Y221F | Pyruvate carboxylase deficiency | Likely benign (Sep 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66616700
- GRCh38:
- Chr11:66849229
| PC | | Pyruvate carboxylase deficiency | Pathogenic (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66619425
- GRCh38:
- Chr11:66851954
| PC | | Pyruvate carboxylase deficiency | Likely benign (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66631394
- GRCh38:
- Chr11:66863923
| PC | | Pyruvate carboxylase deficiency | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66639521
- GRCh38:
- Chr11:66872050
| PC | I37T | Pyruvate carboxylase deficiency | Uncertain significance (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66638301
- GRCh38:
- Chr11:66870830
| PC | | Pyruvate carboxylase deficiency | Likely benign (Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66618570
- GRCh38:
- Chr11:66851099
| PC | Y722H | Pyruvate carboxylase deficiency | Uncertain significance (Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617694
- GRCh38:
- Chr11:66850223
| PC | | Pyruvate carboxylase deficiency | Likely benign (Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66638358
- GRCh38:
- Chr11:66870887
| PC | | Pyruvate carboxylase deficiency | Likely benign (May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617286
- GRCh38:
- Chr11:66849815
| PC | | Pyruvate carboxylase deficiency | Likely benign (Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66637782
- GRCh38:
- Chr11:66870311
| PC | | Pyruvate carboxylase deficiency | Likely benign (Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66633811
- GRCh38:
- Chr11:66866340
| PC | | Pyruvate carboxylase deficiency | Likely benign (May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66637866
- GRCh38:
- Chr11:66870395
| PC | | Pyruvate carboxylase deficiency | Likely benign (Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66620810
- GRCh38:
- Chr11:66853339
| PC | | Pyruvate carboxylase deficiency | Likely benign (Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66616802
- GRCh38:
- Chr11:66849331
| PC | | Pyruvate carboxylase deficiency | Likely benign (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66620135
- GRCh38:
- Chr11:66852664
| PC | | Pyruvate carboxylase deficiency | Likely benign (Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66617944
- GRCh38:
- Chr11:66850473
| PC | | Pyruvate carboxylase deficiency | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66631280
- GRCh38:
- Chr11:66863809
| PC | R445fs | Pyruvate carboxylase deficiency | Pathogenic (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:66620840
- GRCh38:
- Chr11:66853369
| PC | | Pyruvate carboxylase deficiency | Likely benign (Mar 6, 2022) | criteria provided, single submitter |