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Items: 1 to 100 of 657

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:81539546
GRCh38:
Chr3:81490395
GBE1Glycogen storage disease, type IVUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr3:81640178-81643184
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely pathogenic
(Jun 29, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr3:81691912-81810668
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr3:81548251-81548388
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr3:81539558-81810668
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Jul 30, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr3:81627066-81643184
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticPathogenic
(Jan 16, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr3:81539548-81699082
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticPathogenic
(Mar 27, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr3:81691922-81754774
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticPathogenic
(Sep 3, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr3:81695605
GRCh38:
Chr3:81646454
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Sep 3, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr3:81586167
GRCh38:
Chr3:81537016
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Aug 14, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr3:81695551
GRCh38:
Chr3:81646400
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Dec 7, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr3:81692005
GRCh38:
Chr3:81642854
GBE1D307HGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Jun 20, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr3:81640209
GRCh38:
Chr3:81591058
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Jan 1, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr3:81635336
GRCh38:
Chr3:81586185
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(May 18, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr3:81627228
GRCh38:
Chr3:81578077
GBE1S489LGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Aug 4, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr3:81691943
GRCh38:
Chr3:81642792
GBE1F327LGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Jun 12, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr3:81548351
GRCh38:
Chr3:81499200
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Jan 18, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr3:81586264
GRCh38:
Chr3:81537113
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Aug 1, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr3:81699005
GRCh38:
Chr3:81649854
GBE1R166HGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVUncertain significance
(May 5, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr3:81630374
GRCh38:
Chr3:81581223
GBE1T463MGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr3:81640315
GRCh38:
Chr3:81591164
GBE1G370DGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr3:81720012
GRCh38:
Chr3:81670861
GBE1V136MGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Feb 10, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr3:81810562
GRCh38:
Chr3:81761411
GBE1P36QGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Jul 3, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr3:81635295
GRCh38:
Chr3:81586144
GBE1G428EGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Jul 23, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr3:81692131
GRCh38:
Chr3:81642980
GBE1T265AGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(May 3, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr3:81697991-81697992
GRCh38:
Chr3:81648840-81648841
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(May 28, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr3:81627070-81627073
GRCh38:
Chr3:81577919-81577922
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(May 27, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr3:81630331
GRCh38:
Chr3:81581180
GBE1Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVLikely benign
(Apr 8, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr3:81586199
GRCh38:
Chr3:81537048
GBE1N556DGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVUncertain significance
(May 3, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr3:81584456-81584457
GRCh38:
Chr3:81535305-81535306
GBE1H608fsGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVPathogenic
(Mar 28, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr3:81719981
GRCh38:
Chr3:81670830
GBE1Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVLikely benign
(Dec 13, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr3:81720040
GRCh38:
Chr3:81670889
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(May 11, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr3:81586249
GRCh38:
Chr3:81537098
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Jan 2, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr3:81630435-81630436
GRCh38:
Chr3:81581284-81581285
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Sep 23, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr3:81584489
GRCh38:
Chr3:81535338
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Mar 1, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr3:81810647
GRCh38:
Chr3:81761496
GBE1A8TGlycogen storage disease, type IV, Inborn genetic diseases, Glycogen storage disease IV, classic hepatic,
Glycogen storage disease, type IV
Uncertain significance
(Dec 25, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr3:81640170
GRCh38:
Chr3:81591019
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Dec 30, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr3:81586138
GRCh38:
Chr3:81536987
GBE1R576HGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr3:81640312
GRCh38:
Chr3:81591161
GBE1Q371RGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Feb 20, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr3:81754762
GRCh38:
Chr3:81705611
GBE1Y49CGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVUncertain significance
(Jul 7, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr3:81754625
GRCh38:
Chr3:81705474
GBE1A95TGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV, Inborn genetic diseases
Uncertain significance
(Aug 30, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr3:81810613
GRCh38:
Chr3:81761462
GBE1N19SGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr3:81698099
GRCh38:
Chr3:81648948
GBE1Y200CGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVUncertain significance
(Mar 20, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr3:81630439
GRCh38:
Chr3:81581288
GBE1Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVLikely benign
(May 3, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr3:81640276
GRCh38:
Chr3:81591125
GBE1L383PGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVUncertain significance
(Feb 9, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr3:81539561
GRCh38:
Chr3:81490410
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Apr 23, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr3:81754715
GRCh38:
Chr3:81705564
GBE1G65SGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVUncertain significance
(Apr 13, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr3:81698981
GRCh38:
Chr3:81649830
GBE1D174VGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVUncertain significance
(Jul 29, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr3:81692116
GRCh38:
Chr3:81642965
GBE1Q270KGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVUncertain significance
(Mar 10, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr3:81695628
GRCh38:
Chr3:81646477
GBE1N233DGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr3:81586106
GRCh38:
Chr3:81536955
GBE1M587VGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic, not provided
Uncertain significance
(Jun 23, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr3:81754577
GRCh38:
Chr3:81705426
GBE1Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVLikely benign
(Nov 28, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr3:81695650
GRCh38:
Chr3:81646499
GBE1Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVLikely benign
(Oct 13, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr3:81627160
GRCh38:
Chr3:81578009
GBE1V512LGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr3:81698968
GRCh38:
Chr3:81649817
GBE1W178CGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr3:81754741
GRCh38:
Chr3:81705590
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticPathogenic
(Mar 24, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr3:81584436
GRCh38:
Chr3:81535285
GBE1A615DGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVUncertain significance
(Dec 29, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr3:81584466
GRCh38:
Chr3:81535315
GBE1S605NGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr3:81692115
GRCh38:
Chr3:81642964
GBE1Q270LGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr3:81586051
GRCh38:
Chr3:81536900
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Sep 13, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr3:81698976
GRCh38:
Chr3:81649825
GBE1I176LGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(May 25, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr3:81754619
GRCh38:
Chr3:81705468
GBE1G97RGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr3:81640280
GRCh38:
Chr3:81591129
GBE1G382RGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr3:81627131
GRCh38:
Chr3:81577980
GBE1K521NGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic, Inborn genetic diseases
Uncertain significance
(Jul 1, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr3:81754676
GRCh38:
Chr3:81705525
GBE1V78IGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV
Uncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr3:81635293
GRCh38:
Chr3:81586142
GBE1G429SGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Apr 5, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr3:81584351
GRCh38:
Chr3:81535200
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Jun 15, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr3:81586188
GRCh38:
Chr3:81537037
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Jun 7, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr3:81691939
GRCh38:
Chr3:81642788
GBE1Y329HGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVLikely pathogenic
(Apr 28, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr3:81643052
GRCh38:
Chr3:81593901
GBE1Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVLikely benign
(Apr 24, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr3:81627230
GRCh38:
Chr3:81578079
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Sep 2, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr3:81627149
GRCh38:
Chr3:81577998
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Apr 15, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr3:81698980
GRCh38:
Chr3:81649829
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Aug 19, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr3:81640297-81640298
GRCh38:
Chr3:81591146-81591147
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticPathogenic
(Oct 23, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr3:81810600
GRCh38:
Chr3:81761449
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Jun 2, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr3:81640255
GRCh38:
Chr3:81591104
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticPathogenic
(Mar 15, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr3:81643090
GRCh38:
Chr3:81593939
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Mar 15, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr3:81692096
GRCh38:
Chr3:81642945
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Mar 12, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr3:81754755
GRCh38:
Chr3:81705604
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Mar 6, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr3:81754632
GRCh38:
Chr3:81705481
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Apr 14, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr3:81754746
GRCh38:
Chr3:81705595
GBE1Q54HGlycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr3:81692119
GRCh38:
Chr3:81642968
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Feb 8, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr3:81635294
GRCh38:
Chr3:81586143
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Feb 8, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr3:81695577
GRCh38:
Chr3:81646426
GBE1G250CGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Feb 2, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr3:81698150
GRCh38:
Chr3:81648999
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Jul 6, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr3:81699073
GRCh38:
Chr3:81649922
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely pathogenic
(Apr 14, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr3:81635233
GRCh38:
Chr3:81586082
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Mar 24, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr3:81584432
GRCh38:
Chr3:81535281
GBE1F616LInborn genetic diseases, Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV
Uncertain significance
(Jul 10, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr3:81699051
GRCh38:
Chr3:81649900
GBE1G151RGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Jan 7, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr3:81627079
GRCh38:
Chr3:81577928
GBE1M539LGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr3:81539600
GRCh38:
Chr3:81490449
GBE1S689RGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr3:81698086
GRCh38:
Chr3:81648935
GBE1Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IVLikely benign
(Oct 7, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr3:81643119
GRCh38:
Chr3:81593968
GBE1R350CGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Jul 23, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr3:81584426
GRCh38:
Chr3:81535275
GBE1A619fsGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticPathogenic
(Jun 4, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr3:81692099
GRCh38:
Chr3:81642948
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Dec 25, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr3:81548343
GRCh38:
Chr3:81499192
GBE1Y657CGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr3:81720115-81720117
GRCh38:
Chr3:81670964-81670966
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Oct 1, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr3:81640320
GRCh38:
Chr3:81591169
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticLikely benign
(Dec 20, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr3:81586057
GRCh38:
Chr3:81536906
GBE1Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Dec 29, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr3:81586122
GRCh38:
Chr3:81536971
GBE1N581fsGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticPathogenic
(Dec 11, 2021)
criteria provided, single submitter
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