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Items: 1 to 100 of 295

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr17:41052817
GRCh38:
Chr17:42900800
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IABenign/Likely benign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000889444
2.
GRCh37:
Chr17:41052849
GRCh38:
Chr17:42900832
G6PC1not specified, Glycogen storage disease due to glucose-6-phosphatase deficiency type IAConflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000137405
3.
GRCh37:
Chr17:41052907
GRCh38:
Chr17:42900890
G6PC1M5RGlycogen storage disease due to glucose-6-phosphatase deficiency type IAConflicting interpretations of pathogenicity
(Sep 13, 2020)
criteria provided, conflicting interpretationsVCV000555353
4.
GRCh37:
Chr17:41052911
GRCh38:
Chr17:42900894
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAConflicting interpretations of pathogenicity
(Nov 16, 2020)
criteria provided, conflicting interpretationsVCV000795472
5.
GRCh37:
Chr17:41052935
GRCh38:
Chr17:42900918
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Nov 29, 2019)
criteria provided, single submitterVCV001154825
6.
GRCh37:
Chr17:41052938
GRCh38:
Chr17:42900921
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Dec 30, 2019)
criteria provided, single submitterVCV001103192
7.
GRCh37:
Chr17:41052940
GRCh38:
Chr17:42900923
G6PC1T16RGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Oct 18, 2017)
criteria provided, single submitterVCV000554430
8.
GRCh37:
Chr17:41052943-41052944
GRCh38:
Chr17:42900926-42900927
G6PC1Y23fsGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Oct 10, 2017)
criteria provided, single submitterVCV000550812
9.
GRCh37:
Chr17:41052952
GRCh38:
Chr17:42900935
G6PC1Q20RGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Nov 4, 2019)
criteria provided, single submitterVCV001030625
10.
GRCh37:
Chr17:41052953
GRCh38:
Chr17:42900936
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogeniccriteria provided, single submitterVCV000973573
11.
GRCh37:
Chr17:41052959
GRCh38:
Chr17:42900942
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Sep 17, 2020)
criteria provided, single submitterVCV001082623
12.
GRCh37:
Chr17:41052970
GRCh38:
Chr17:42900953
G6PC1Q27fsnot provided, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease, type I
Pathogenic
(Oct 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000021062
13.
GRCh37:
Chr17:41052972
GRCh38:
Chr17:42900955
G6PC1Q27*Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Dec 30, 2015)
criteria provided, single submitterVCV000370273
14.
GRCh37:
Chr17:41052974
GRCh38:
Chr17:42900957
G6PC1Q27HGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000323359
15.
GRCh37:
Chr17:41052975
GRCh38:
Chr17:42900958
G6PC1D28NGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000890127
16.
GRCh37:
Chr17:41053001
GRCh38:
Chr17:42900984
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Sep 21, 2020)
criteria provided, single submitterVCV001077646
17.
GRCh37:
Chr17:41053006
GRCh38:
Chr17:42900989
G6PC1D38VGlycogen storage disease due to glucose-6-phosphatase deficiency type IA, not specifiedPathogenic
(Sep 20, 2020)
criteria provided, multiple submitters, no conflictsVCV000012004
18.
GRCh37:
Chr17:41053025
GRCh38:
Chr17:42901008
G6PC1not specified, Glycogen storage disease due to glucose-6-phosphatase deficiency type IABenign/Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000377897
19.
GRCh37:
Chr17:41053026
GRCh38:
Chr17:42901009
G6PC1V45IGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Apr 28, 2017)
criteria provided, single submitterVCV000890128
20.
GRCh37:
Chr17:41053028
GRCh38:
Chr17:42901011
G6PC1L46fsGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic/Likely pathogenic
(Jan 23, 2019)
criteria provided, multiple submitters, no conflictsVCV000371379
21.
GRCh37:
Chr17:41053037
GRCh38:
Chr17:42901020
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Oct 2, 2020)
criteria provided, single submitterVCV001147798
22.
GRCh37:
Chr17:41053043-41053044
GRCh38:
Chr17:42901026-42901027
G6PC1W50fsGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic/Likely pathogenic
(Mar 2, 2019)
criteria provided, multiple submitters, no conflictsVCV000370671
23.
GRCh37:
Chr17:41053048-41053049
GRCh38:
Chr17:42901031-42901032
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Mar 1, 2020)
criteria provided, single submitterVCV001071784
24.
GRCh37:
Chr17:41053054
GRCh38:
Chr17:42901037
G6PC1Q54PGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic/Likely pathogenic
(Jun 7, 2019)
criteria provided, multiple submitters, no conflictsVCV000371101
25.
GRCh37:
Chr17:41053082
GRCh38:
Chr17:42901065
G6PC1W63*Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic/Likely pathogenic
(Jun 26, 2020)
criteria provided, multiple submitters, no conflictsVCV000188966
26.
GRCh37:
Chr17:41053086
GRCh38:
Chr17:42901069
G6PC1A65SGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Oct 9, 2020)
criteria provided, single submitterVCV001040468
27.
GRCh37:
Chr17:41053086
GRCh38:
Chr17:42901069
G6PC1A65PGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Nov 26, 2018)
criteria provided, single submitterVCV000665757
28.
GRCh37:
Chr17:41053101
GRCh38:
Chr17:42901084
G6PC1W70fsGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Jul 21, 2016)
criteria provided, single submitterVCV000997956
29.
GRCh37:
Chr17:41053102
GRCh38:
Chr17:42901085
G6PC1W70SGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jul 22, 2021)
criteria provided, single submitterVCV001210409
30.
GRCh37:
Chr17:41053102
GRCh38:
Chr17:42901085
G6PC1W70*Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Jan 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000813495
31.
GRCh37:
Chr17:41053112
GRCh38:
Chr17:42901095
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Aug 25, 2019)
criteria provided, single submitterVCV001139398
32.
GRCh37:
Chr17:41053112
GRCh38:
Chr17:42901095
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Mar 10, 2020)
criteria provided, single submitterVCV001096350
33.
GRCh37:
Chr17:41053113
GRCh38:
Chr17:42901096
G6PC1V74IGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Nov 10, 2020)
criteria provided, single submitterVCV001084143
34.
GRCh37:
Chr17:41053118
GRCh38:
Chr17:42901101
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Aug 11, 2020)
criteria provided, single submitterVCV001080800
35.
GRCh37:
Chr17:41053121
GRCh38:
Chr17:42901104
G6PC1K76NGlycogen storage disease due to glucose-6-phosphatase deficiency type IA, not providedPathogenic
(Oct 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000855275
36.
GRCh37:
Chr17:41053122
GRCh38:
Chr17:42901105
G6PC1W77RGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic/Likely pathogenic
(Aug 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000012001
37.
GRCh37:
Chr17:41053124
GRCh38:
Chr17:42901107
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Apr 11, 2018)
criteria provided, single submitterVCV000214464
38.
GRCh37:
Chr17:41053127
GRCh38:
Chr17:42901110
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(May 1, 1996)
no assertion criteria providedVCV000012002
39.
GRCh37:
Chr17:41053134
GRCh38:
Chr17:42901117
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000890129
40.
GRCh37:
Chr17:41053153
GRCh38:
Chr17:42901136
G6PC1not providedLikely benign
(May 12, 2021)
criteria provided, single submitterVCV001321744
41.
GRCh37:
Chr17:41055930
GRCh38:
Chr17:42903913
G6PC1not specifiedLikely benign
(Apr 15, 2016)
criteria provided, single submitterVCV000385009
42.
GRCh37:
Chr17:41055936
GRCh38:
Chr17:42903919
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000890130
43.
GRCh37:
Chr17:41055943
GRCh38:
Chr17:42903926
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Oct 31, 2020)
criteria provided, single submitterVCV001122562
44.
GRCh37:
Chr17:41055944
GRCh38:
Chr17:42903927
G6PC1not specifiedLikely benign
(May 30, 2017)
criteria provided, single submitterVCV000517869
45.
GRCh37:
Chr17:41055947
GRCh38:
Chr17:42903930
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic/Likely pathogenic
(Aug 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000549978
46.
GRCh37:
Chr17:41055958
GRCh38:
Chr17:42903941
G6PC1G81RGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogeniccriteria provided, single submitterVCV000813496
47.
GRCh37:
Chr17:41055961
GRCh38:
Chr17:42903944
G6PC1Q82*not providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000591627
48.
GRCh37:
Chr17:41055963
GRCh38:
Chr17:42903946
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Sep 9, 2020)
criteria provided, single submitterVCV001103218
49.
GRCh37:
Chr17:41055964
GRCh38:
Chr17:42903947
G6PC1R83CGlycogen storage disease, not provided, Hypoglycemia,
Short stature, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Pathogenic
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000011998
50.
GRCh37:
Chr17:41055965
GRCh38:
Chr17:42903948
G6PC1R83HGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Oct 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000038300
51.
GRCh37:
Chr17:41055969
GRCh38:
Chr17:42903952
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Jul 7, 2020)
criteria provided, single submitterVCV001095550
52.
GRCh37:
Chr17:41055972
GRCh38:
Chr17:42903955
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Jul 1, 2020)
criteria provided, single submitterVCV001156361
53.
GRCh37:
Chr17:41055972
GRCh38:
Chr17:42903955
G6PC1Y85*Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Dec 13, 2017)
criteria provided, single submitterVCV000543553
54.
GRCh37:
Chr17:41055973
GRCh38:
Chr17:42903956
G6PC1W86RGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Feb 18, 2020)
criteria provided, single submitterVCV001000600
55.
GRCh37:
Chr17:41055975
GRCh38:
Chr17:42903958
G6PC1W86*not provided, Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(May 28, 2017)
criteria provided, single submitterVCV000502134
56.
GRCh37:
Chr17:41055977
GRCh38:
Chr17:42903960
G6PC1V88fsGlycogen storage disease due to glucose-6-phosphatase deficiency type IA, Inborn genetic diseasesPathogenic
(Oct 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000643470
57.
GRCh37:
Chr17:41056002
GRCh38:
Chr17:42903985
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(May 13, 2019)
criteria provided, single submitterVCV001153290
58.
GRCh37:
Chr17:41056011
GRCh38:
Chr17:42903994
G6PC1not provided, Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Oct 3, 2018)
criteria provided, single submitterVCV000755518
59.
GRCh37:
Chr17:41056027
GRCh38:
Chr17:42904010
G6PC1Q104*Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Mar 31, 2020)
criteria provided, multiple submitters, no conflictsVCV000948256
60.
GRCh37:
Chr17:41056040
GRCh38:
Chr17:42904023
G6PC1C109fsGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Oct 1, 2020)
criteria provided, single submitterVCV001076177
61.
GRCh37:
Chr17:41056040
GRCh38:
Chr17:42904023
G6PC1T108IGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Aug 16, 2018)
criteria provided, single submitterVCV000651731
62.
GRCh37:
Chr17:41056043
GRCh38:
Chr17:42904026
G6PC1C109YGlycogen storage disease due to glucose-6-phosphatase deficiency type IA, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Sep 18, 2019)
criteria provided, conflicting interpretationsVCV000323360
63.
GRCh37:
Chr17:41056045
GRCh38:
Chr17:42904028
G6PC1E110KGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic/Likely pathogenic
(Jul 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000012005
64.
GRCh37:
Chr17:41056064
GRCh38:
Chr17:42904047
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Apr 21, 2019)
criteria provided, single submitterVCV001161480
65.
GRCh37:
Chr17:41056064
GRCh38:
Chr17:42904047
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Aug 14, 2020)
no assertion criteria providedVCV000990471
66.
GRCh37:
Chr17:41056067
GRCh38:
Chr17:42904050
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease, type I, not specified,
not provided
Conflicting interpretations of pathogenicity
(Dec 4, 2020)
criteria provided, conflicting interpretationsVCV000285532
67.
GRCh37:
Chr17:41056077
GRCh38:
Chr17:42904060
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, not specifiedLikely benign
(Sep 21, 2017)
criteria provided, multiple submitters, no conflictsVCV000516270
68.
GRCh37:
Chr17:41056099
GRCh38:
Chr17:42904082
G6PC1not provided, not specifiedBenign/Likely benign
(Apr 2, 2019)
criteria provided, multiple submitters, no conflictsVCV000255351
69.
GRCh37:
Chr17:41056245
GRCh38:
Chr17:42904228
G6PC1not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001238046
70.
GRCh37:
Chr17:41056260
GRCh38:
Chr17:42904243
G6PC1not providedBenign
(May 12, 2021)
criteria provided, single submitterVCV001281751
71.
GRCh37:
Chr17:41056283
GRCh38:
Chr17:42904266
G6PC1not providedBenign
(May 12, 2021)
criteria provided, single submitterVCV001234871
72.
GRCh37:
Chr17:41059401
GRCh38:
Chr17:42907384
G6PC1not providedBenign
(May 21, 2021)
criteria provided, single submitterVCV001298052
73.
GRCh37:
Chr17:41059540
GRCh38:
Chr17:42907523
G6PC1G114AGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jun 19, 2019)
criteria provided, single submitterVCV000862241
74.
GRCh37:
Chr17:41059540
GRCh38:
Chr17:42907523
G6PC1G114EGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Jul 17, 2017)
criteria provided, single submitterVCV000552906
75.
GRCh37:
Chr17:41059553
GRCh38:
Chr17:42907536
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Nov 10, 2020)
criteria provided, single submitterVCV001107059
76.
GRCh37:
Chr17:41059554
GRCh38:
Chr17:42907537
G6PC1H119DGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Sep 1, 2015)
criteria provided, single submitterVCV000997953
77.
GRCh37:
Chr17:41059555
GRCh38:
Chr17:42907538
G6PC1H119LGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Jul 7, 2020)
criteria provided, single submitterVCV000863144
78.
GRCh37:
Chr17:41059559
GRCh38:
Chr17:42907542
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Feb 3, 2019)
criteria provided, single submitterVCV001143692
79.
GRCh37:
Chr17:41059560
GRCh38:
Chr17:42907543
G6PC1M121VGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Apr 11, 2018)
criteria provided, single submitterVCV000557664
80.
GRCh37:
Chr17:41059564
GRCh38:
Chr17:42907547
G6PC1G122DGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Jun 19, 2020)
criteria provided, single submitterVCV001076798
81.
GRCh37:
Chr17:41059567
GRCh38:
Chr17:42907550
G6PC1T123IGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Sep 4, 2020)
no assertion criteria providedVCV000990472
82.
GRCh37:
Chr17:41059567
GRCh38:
Chr17:42907550
G6PC1T123KGlycogen storage disease due to glucose-6-phosphatase deficiency type IAUncertain significance
(Feb 22, 2020)
criteria provided, single submitterVCV000933836
83.
GRCh37:
Chr17:41059569
GRCh38:
Chr17:42907552
G6PC1A124TGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic/Likely pathogenic
(Dec 19, 2019)
criteria provided, multiple submitters, no conflictsVCV000012006
84.
GRCh37:
Chr17:41059575-41059576
GRCh38:
Chr17:42907558-42907559
G6PC1Y128fsnot provided, Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Jun 30, 2021)
criteria provided, multiple submitters, no conflictsVCV000011997
85.
GRCh37:
Chr17:41059580
GRCh38:
Chr17:42907563
G6PC1Y127*Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Aug 10, 2017)
criteria provided, single submitterVCV000553272
86.
GRCh37:
Chr17:41059583
GRCh38:
Chr17:42907566
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Nov 17, 2020)
criteria provided, single submitterVCV001152053
87.
GRCh37:
Chr17:41059583
GRCh38:
Chr17:42907566
G6PC1Y128*Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Mar 20, 2019)
criteria provided, single submitterVCV000841886
88.
GRCh37:
Chr17:41059587-41059588
GRCh38:
Chr17:42907570-42907571
G6PC1M130*Glycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Oct 26, 2019)
criteria provided, single submitterVCV000965343
89.
GRCh37:
Chr17:41059587-41059599
GRCh38:
Chr17:42907570-42907582
G6PC1M130fsGlycogen storage disease due to glucose-6-phosphatase deficiency type IAPathogenic
(Sep 5, 2018)
no assertion criteria providedVCV000560550
90.
GRCh37:
Chr17:41059604
GRCh38:
Chr17:42907587
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Apr 27, 2020)
criteria provided, single submitterVCV001125328
91.
GRCh37:
Chr17:41059631
GRCh38:
Chr17:42907614
G6PC1D119Nnot provided, not specified, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Benign/Likely benign
(Dec 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000214458
92.
GRCh37:
Chr17:41059634
GRCh38:
Chr17:42907617
G6PC1L120VGlycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Sep 9, 2020)
criteria provided, single submitterVCV001156036
93.
GRCh37:
Chr17:41059646
GRCh38:
Chr17:42907629
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(May 29, 2019)
criteria provided, single submitterVCV000656705
94.
GRCh37:
Chr17:41059647
GRCh38:
Chr17:42907630
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(May 24, 2019)
criteria provided, single submitterVCV000639032
95.
GRCh37:
Chr17:41059652
GRCh38:
Chr17:42907635
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001077939
96.
GRCh37:
Chr17:41059718
GRCh38:
Chr17:42907701
G6PC1not providedBenign
(Jun 29, 2018)
criteria provided, single submitterVCV001225784
97.
GRCh37:
Chr17:41059795
GRCh38:
Chr17:42907778
G6PC1not providedBenign
(May 12, 2021)
criteria provided, single submitterVCV001174476
98.
GRCh37:
Chr17:41061262
GRCh38:
Chr17:42909245
G6PC1not providedBenign
(May 21, 2021)
criteria provided, single submitterVCV001297411
99.
GRCh37:
Chr17:41061314
GRCh38:
Chr17:42909297
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, not providedLikely benign
(Sep 13, 2018)
criteria provided, single submitterVCV000751710
100.
GRCh37:
Chr17:41061319
GRCh38:
Chr17:42909302
G6PC1Glycogen storage disease due to glucose-6-phosphatase deficiency type IALikely pathogenic
(Jul 31, 2017)
criteria provided, single submitterVCV000553158
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