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Links from MedGen

Items: 1 to 100 of 447

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:41056055
GRCh38:
Chr17:42904038
G6PC1P113LGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Dec 2, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr17:41053082
GRCh38:
Chr17:42901065
G6PC1W63CGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Dec 5, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr17:41063108-41063111
GRCh38:
Chr17:42911091-42911094
G6PC1P248fsGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Dec 8, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr17:41052894-41056246
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Jun 9, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr17:41059520-41063443
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Nov 14, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr17:41061310-41061445
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Jun 11, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr17:41052894-41053143
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jan 21, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr17:41052894-41059665
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Jun 8, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr17:41055928-41056246
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Apr 26, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr17:41052894-41063443
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Apr 29, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr17:41063405
GRCh38:
Chr17:42911388
G6PC1A346TGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr17:41063346
GRCh38:
Chr17:42911329
G6PC1S326CGlycogen storage disease due to glucose-6-phosphatase deficiency type IA, Inborn genetic diseasesUncertain significance
(Feb 10, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr17:41063156
GRCh38:
Chr17:42911139
G6PC1K263fsGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Jun 2, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr17:41063185
GRCh38:
Chr17:42911168
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Oct 20, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr17:41063131
GRCh38:
Chr17:42911114
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Apr 6, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr17:41053034
GRCh38:
Chr17:42901017
G6PC1F47LGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr17:41063433
GRCh38:
Chr17:42911416
G6PC1K355RGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr17:41059541
GRCh38:
Chr17:42907524
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Aug 24, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr17:41063296
GRCh38:
Chr17:42911279
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Mar 3, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr17:41055956
GRCh38:
Chr17:42903939
G6PC1F80SGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(May 9, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr17:41063265
GRCh38:
Chr17:42911248
G6PC1I299TGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(May 3, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr17:41056012
GRCh38:
Chr17:42903995
G6PC1V99MGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr17:41052996
GRCh38:
Chr17:42900979
G6PC1V35MGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr17:41059594
GRCh38:
Chr17:42907577
G6PC1T132IInborn genetic diseases, Glycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Feb 14, 2023)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr17:41063424
GRCh38:
Chr17:42911407
G6PC1P352LGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Oct 5, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr17:41063105
GRCh38:
Chr17:42911088
G6PC1E246KGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr17:41063323
GRCh38:
Chr17:42911306
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Aug 21, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr17:41062932
GRCh38:
Chr17:42910915
G6PC1G188DGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr17:41061405
GRCh38:
Chr17:42909388
G6PC1P178A, S152CGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr17:41055996
GRCh38:
Chr17:42903979
G6PC1Y93*Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(May 4, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr17:41055955
GRCh38:
Chr17:42903938
G6PC1F80IGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Aug 15, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr17:41053025
GRCh38:
Chr17:42901008
G6PC1Y44*Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(May 5, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr17:41056067
GRCh38:
Chr17:42904050
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(May 4, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr17:41052907
GRCh38:
Chr17:42900890
G6PC1M5KGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Apr 21, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr17:41063404
GRCh38:
Chr17:42911387
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Apr 17, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr17:41053049
GRCh38:
Chr17:42901032
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Mar 24, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr17:41059639
GRCh38:
Chr17:42907622
G6PC1R147KGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr17:41063169
GRCh38:
Chr17:42911152
G6PC1T267RGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr17:41056065
GRCh38:
Chr17:42904048
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Mar 24, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr17:41063192-41063196
GRCh38:
Chr17:42911175-42911179
G6PC1N276fsGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Feb 25, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr17:41053028
GRCh38:
Chr17:42901011
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Feb 25, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr17:41059568
GRCh38:
Chr17:42907551
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Jan 26, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr17:41059561
GRCh38:
Chr17:42907544
G6PC1M121TGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Oct 3, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr17:41063098
GRCh38:
Chr17:42911081
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Feb 6, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr17:41063406
GRCh38:
Chr17:42911389
G6PC1A346VGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr17:41063205
GRCh38:
Chr17:42911188
G6PC1M279TGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(May 12, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr17:41059598
GRCh38:
Chr17:42907581
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Jan 16, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr17:41059645
GRCh38:
Chr17:42907628
G6PC1R149QGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr17:41063437-41063439
GRCh38:
Chr17:42911420-42911422
G6PC1L357delGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Aug 13, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr17:41063374
GRCh38:
Chr17:42911357
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Jan 2, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr17:41055986
GRCh38:
Chr17:42903969
G6PC1D90GGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr17:41063313
GRCh38:
Chr17:42911296
G6PC1P315LGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr17:41063054
GRCh38:
Chr17:42911037
G6PC1G229RGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Dec 29, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr17:41052908
GRCh38:
Chr17:42900891
G6PC1M5IGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(May 25, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr17:41055984-41055985
GRCh38:
Chr17:42903967-42903968
G6PC1L89fsGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Dec 23, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr17:41059644
GRCh38:
Chr17:42907627
G6PC1S123L, R149WGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Dec 25, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr17:41052978
GRCh38:
Chr17:42900961
G6PC1W29RGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Dec 21, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr17:41053014
GRCh38:
Chr17:42900997
G6PC1N41DGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Dec 19, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr17:41063104
GRCh38:
Chr17:42911087
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Oct 8, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr17:41063339
GRCh38:
Chr17:42911322
G6PC1V324IInborn genetic diseases, Glycogen storage disease due to glucose-6-phosphatase deficiency type IAConflicting interpretations of pathogenicity
(Feb 10, 2022)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr17:41053065
GRCh38:
Chr17:42901048
G6PC1G58SGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr17:41063178
GRCh38:
Chr17:42911161
G6PC1G270DGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Jun 13, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr17:41059532
GRCh38:
Chr17:42907515
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Oct 17, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr17:41063182
GRCh38:
Chr17:42911165
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Aug 30, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr17:41062914
GRCh38:
Chr17:42910897
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Sep 25, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr17:41059553
GRCh38:
Chr17:42907536
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Sep 19, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr17:41052908
GRCh38:
Chr17:42900891
G6PC1M5IGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Sep 3, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr17:41056014
GRCh38:
Chr17:42903997
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Aug 5, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr17:41063260
GRCh38:
Chr17:42911243
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Aug 4, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr17:41063278
GRCh38:
Chr17:42911261
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Jun 28, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr17:41063297
GRCh38:
Chr17:42911280
G6PC1D310NGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr17:41053035
GRCh38:
Chr17:42901018
G6PC1P48SGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jun 19, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr17:41061439
GRCh38:
Chr17:42909422
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr17:41063435
GRCh38:
Chr17:42911418
G6PC1S356PGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr17:41061353
GRCh38:
Chr17:42909336
G6PC1G135S, W160*Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Jun 13, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr17:41063158
GRCh38:
Chr17:42911141
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(May 12, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr17:41063335
GRCh38:
Chr17:42911318
G6PC1F322LGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Sep 15, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr17:41052986
GRCh38:
Chr17:42900969
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Jun 8, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr17:41055957
GRCh38:
Chr17:42903940
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Dec 9, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr17:41063272
GRCh38:
Chr17:42911255
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Aug 16, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr17:41061342
GRCh38:
Chr17:42909325
G6PC1V131AGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Aug 2, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr17:41052984
GRCh38:
Chr17:42900967
G6PC1I31FGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Mar 16, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr17:41063225
GRCh38:
Chr17:42911208
G6PC1G286RGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr17:41052920
GRCh38:
Chr17:42900903
G6PC1H9QInborn genetic diseases, Glycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Sep 16, 2021)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr17:41063377
GRCh38:
Chr17:42911360
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Nov 1, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr17:41055951
GRCh38:
Chr17:42903934
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Aug 4, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr17:41059607
GRCh38:
Chr17:42907590
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jun 11, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr17:41056014
GRCh38:
Chr17:42903997
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Dec 26, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr17:41059534
GRCh38:
Chr17:42907517
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Jan 5, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr17:41055995
GRCh38:
Chr17:42903978
G6PC1Y93fsGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Jan 2, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr17:41053104
GRCh38:
Chr17:42901087
G6PC1L71fsGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Jan 28, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr17:41052963
GRCh38:
Chr17:42900946
G6PC1Q24*Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(May 4, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr17:41059554
GRCh38:
Chr17:42907537
G6PC1H119YGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(May 4, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr17:41063419
GRCh38:
Chr17:42911402
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Jul 26, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr17:41063416
GRCh38:
Chr17:42911399
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Apr 14, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr17:41063413
GRCh38:
Chr17:42911396
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Apr 8, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr17:41063395
GRCh38:
Chr17:42911378
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Feb 14, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr17:41063392
GRCh38:
Chr17:42911375
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Mar 20, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr17:41063387-41063395
GRCh38:
Chr17:42911370-42911378
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Jun 27, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr17:41063383
GRCh38:
Chr17:42911366
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Jul 21, 2021)
criteria provided, single submitter
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