| - GRCh37:
- Chr17:41056055
- GRCh38:
- Chr17:42904038
| G6PC1 | P113L | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Dec 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41053082
- GRCh38:
- Chr17:42901065
| G6PC1 | W63C | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Dec 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063108-41063111
- GRCh38:
- Chr17:42911091-42911094
| G6PC1 | P248fs | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Pathogenic
(Dec 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41052894-41056246
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Pathogenic
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41059520-41063443
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Nov 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41061310-41061445
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely pathogenic
(Jun 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41052894-41053143
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Jan 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41052894-41059665
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Pathogenic
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41055928-41056246
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Pathogenic
(Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41052894-41063443
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Pathogenic
(Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063405
- GRCh38:
- Chr17:42911388
| G6PC1 | A346T | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063346
- GRCh38:
- Chr17:42911329
| G6PC1 | S326C | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Inborn genetic diseases | Uncertain significance
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:41063156
- GRCh38:
- Chr17:42911139
| G6PC1 | K263fs | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Pathogenic
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063185
- GRCh38:
- Chr17:42911168
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063131
- GRCh38:
- Chr17:42911114
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41053034
- GRCh38:
- Chr17:42901017
| G6PC1 | F47L | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063433
- GRCh38:
- Chr17:42911416
| G6PC1 | K355R | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41059541
- GRCh38:
- Chr17:42907524
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063296
- GRCh38:
- Chr17:42911279
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41055956
- GRCh38:
- Chr17:42903939
| G6PC1 | F80S | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely pathogenic
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063265
- GRCh38:
- Chr17:42911248
| G6PC1 | I299T | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41056012
- GRCh38:
- Chr17:42903995
| G6PC1 | V99M | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41052996
- GRCh38:
- Chr17:42900979
| G6PC1 | V35M | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41059594
- GRCh38:
- Chr17:42907577
| G6PC1 | T132I | Inborn genetic diseases, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Feb 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:41063424
- GRCh38:
- Chr17:42911407
| G6PC1 | P352L | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063105
- GRCh38:
- Chr17:42911088
| G6PC1 | E246K | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063323
- GRCh38:
- Chr17:42911306
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41062932
- GRCh38:
- Chr17:42910915
| G6PC1 | G188D | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41061405
- GRCh38:
- Chr17:42909388
| G6PC1 | P178A, S152C | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41055996
- GRCh38:
- Chr17:42903979
| G6PC1 | Y93* | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41055955
- GRCh38:
- Chr17:42903938
| G6PC1 | F80I | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Pathogenic
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41053025
- GRCh38:
- Chr17:42901008
| G6PC1 | Y44* | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Pathogenic
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41056067
- GRCh38:
- Chr17:42904050
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41052907
- GRCh38:
- Chr17:42900890
| G6PC1 | M5K | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely pathogenic
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063404
- GRCh38:
- Chr17:42911387
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41053049
- GRCh38:
- Chr17:42901032
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41059639
- GRCh38:
- Chr17:42907622
| G6PC1 | R147K | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063169
- GRCh38:
- Chr17:42911152
| G6PC1 | T267R | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41056065
- GRCh38:
- Chr17:42904048
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063192-41063196
- GRCh38:
- Chr17:42911175-42911179
| G6PC1 | N276fs | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Pathogenic
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41053028
- GRCh38:
- Chr17:42901011
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41059568
- GRCh38:
- Chr17:42907551
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41059561
- GRCh38:
- Chr17:42907544
| G6PC1 | M121T | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely pathogenic
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063098
- GRCh38:
- Chr17:42911081
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063406
- GRCh38:
- Chr17:42911389
| G6PC1 | A346V | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063205
- GRCh38:
- Chr17:42911188
| G6PC1 | M279T | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41059598
- GRCh38:
- Chr17:42907581
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41059645
- GRCh38:
- Chr17:42907628
| G6PC1 | R149Q | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063437-41063439
- GRCh38:
- Chr17:42911420-42911422
| G6PC1 | L357del | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063374
- GRCh38:
- Chr17:42911357
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41055986
- GRCh38:
- Chr17:42903969
| G6PC1 | D90G | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063313
- GRCh38:
- Chr17:42911296
| G6PC1 | P315L | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063054
- GRCh38:
- Chr17:42911037
| G6PC1 | G229R | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Dec 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41052908
- GRCh38:
- Chr17:42900891
| G6PC1 | M5I | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely pathogenic
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41055984-41055985
- GRCh38:
- Chr17:42903967-42903968
| G6PC1 | L89fs | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Pathogenic
(Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41059644
- GRCh38:
- Chr17:42907627
| G6PC1 | S123L, R149W | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41052978
- GRCh38:
- Chr17:42900961
| G6PC1 | W29R | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Dec 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41053014
- GRCh38:
- Chr17:42900997
| G6PC1 | N41D | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063104
- GRCh38:
- Chr17:42911087
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Oct 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063339
- GRCh38:
- Chr17:42911322
| G6PC1 | V324I | Inborn genetic diseases, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Conflicting interpretations of pathogenicity
(Feb 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:41053065
- GRCh38:
- Chr17:42901048
| G6PC1 | G58S | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063178
- GRCh38:
- Chr17:42911161
| G6PC1 | G270D | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely pathogenic
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41059532
- GRCh38:
- Chr17:42907515
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063182
- GRCh38:
- Chr17:42911165
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41062914
- GRCh38:
- Chr17:42910897
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41059553
- GRCh38:
- Chr17:42907536
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41052908
- GRCh38:
- Chr17:42900891
| G6PC1 | M5I | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely pathogenic
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41056014
- GRCh38:
- Chr17:42903997
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063260
- GRCh38:
- Chr17:42911243
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063278
- GRCh38:
- Chr17:42911261
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063297
- GRCh38:
- Chr17:42911280
| G6PC1 | D310N | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41053035
- GRCh38:
- Chr17:42901018
| G6PC1 | P48S | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41061439
- GRCh38:
- Chr17:42909422
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063435
- GRCh38:
- Chr17:42911418
| G6PC1 | S356P | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41061353
- GRCh38:
- Chr17:42909336
| G6PC1 | G135S, W160* | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Pathogenic
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063158
- GRCh38:
- Chr17:42911141
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063335
- GRCh38:
- Chr17:42911318
| G6PC1 | F322L | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely pathogenic
(Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41052986
- GRCh38:
- Chr17:42900969
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41055957
- GRCh38:
- Chr17:42903940
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Dec 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063272
- GRCh38:
- Chr17:42911255
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41061342
- GRCh38:
- Chr17:42909325
| G6PC1 | V131A | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41052984
- GRCh38:
- Chr17:42900967
| G6PC1 | I31F | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063225
- GRCh38:
- Chr17:42911208
| G6PC1 | G286R | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41052920
- GRCh38:
- Chr17:42900903
| G6PC1 | H9Q | Inborn genetic diseases, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Sep 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:41063377
- GRCh38:
- Chr17:42911360
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41055951
- GRCh38:
- Chr17:42903934
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41059607
- GRCh38:
- Chr17:42907590
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Uncertain significance
(Jun 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41056014
- GRCh38:
- Chr17:42903997
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Dec 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41059534
- GRCh38:
- Chr17:42907517
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41055995
- GRCh38:
- Chr17:42903978
| G6PC1 | Y93fs | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely pathogenic
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41053104
- GRCh38:
- Chr17:42901087
| G6PC1 | L71fs | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely pathogenic
(Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41052963
- GRCh38:
- Chr17:42900946
| G6PC1 | Q24* | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41059554
- GRCh38:
- Chr17:42907537
| G6PC1 | H119Y | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063419
- GRCh38:
- Chr17:42911402
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Jul 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063416
- GRCh38:
- Chr17:42911399
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Apr 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063413
- GRCh38:
- Chr17:42911396
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063395
- GRCh38:
- Chr17:42911378
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Feb 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063392
- GRCh38:
- Chr17:42911375
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Mar 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063387-41063395
- GRCh38:
- Chr17:42911370-42911378
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely pathogenic
(Jun 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41063383
- GRCh38:
- Chr17:42911366
| G6PC1 | | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Likely benign
(Jul 21, 2021) | criteria provided, single submitter |