| - GRCh37:
- Chr3:81539546
- GRCh38:
- Chr3:81490395
| GBE1 | | Glycogen storage disease, type IV | Uncertain significance
(Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81640178-81643184
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely pathogenic
(Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81691912-81810668
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81548251-81548388
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81539558-81810668
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81627066-81643184
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Pathogenic
(Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81539548-81699082
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Pathogenic
(Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81691922-81754774
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Pathogenic
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81695605
- GRCh38:
- Chr3:81646454
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81586167
- GRCh38:
- Chr3:81537016
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Aug 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81695551
- GRCh38:
- Chr3:81646400
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Dec 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81692005
- GRCh38:
- Chr3:81642854
| GBE1 | D307H | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81640209
- GRCh38:
- Chr3:81591058
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81635336
- GRCh38:
- Chr3:81586185
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81627228
- GRCh38:
- Chr3:81578077
| GBE1 | S489L | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81691943
- GRCh38:
- Chr3:81642792
| GBE1 | F327L | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Jun 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81548351
- GRCh38:
- Chr3:81499200
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81586264
- GRCh38:
- Chr3:81537113
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81699005
- GRCh38:
- Chr3:81649854
| GBE1 | R166H | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Uncertain significance
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81630374
- GRCh38:
- Chr3:81581223
| GBE1 | T463M | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81640315
- GRCh38:
- Chr3:81591164
| GBE1 | G370D | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Uncertain significance
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81720012
- GRCh38:
- Chr3:81670861
| GBE1 | V136M | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81810562
- GRCh38:
- Chr3:81761411
| GBE1 | P36Q | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81635295
- GRCh38:
- Chr3:81586144
| GBE1 | G428E | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81692131
- GRCh38:
- Chr3:81642980
| GBE1 | T265A | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81697991-81697992
- GRCh38:
- Chr3:81648840-81648841
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(May 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81627070-81627073
- GRCh38:
- Chr3:81577919-81577922
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81630331
- GRCh38:
- Chr3:81581180
| GBE1 | | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Likely benign
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81586199
- GRCh38:
- Chr3:81537048
| GBE1 | N556D | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Uncertain significance
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81584456-81584457
- GRCh38:
- Chr3:81535305-81535306
| GBE1 | H608fs | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Pathogenic
(Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81719981
- GRCh38:
- Chr3:81670830
| GBE1 | | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Likely benign
(Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81720040
- GRCh38:
- Chr3:81670889
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81586249
- GRCh38:
- Chr3:81537098
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81630435-81630436
- GRCh38:
- Chr3:81581284-81581285
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81584489
- GRCh38:
- Chr3:81535338
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81810647
- GRCh38:
- Chr3:81761496
| GBE1 | A8T | Glycogen 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 |
| - GRCh37:
- Chr3:81640170
- GRCh38:
- Chr3:81591019
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81586138
- GRCh38:
- Chr3:81536987
| GBE1 | R576H | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Uncertain significance
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81640312
- GRCh38:
- Chr3:81591161
| GBE1 | Q371R | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81754762
- GRCh38:
- Chr3:81705611
| GBE1 | Y49C | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Uncertain significance
(Jul 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81754625
- GRCh38:
- Chr3:81705474
| GBE1 | A95T | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV, Inborn genetic diseases
| Uncertain significance
(Aug 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:81810613
- GRCh38:
- Chr3:81761462
| GBE1 | N19S | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Uncertain significance
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81698099
- GRCh38:
- Chr3:81648948
| GBE1 | Y200C | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Uncertain significance
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81630439
- GRCh38:
- Chr3:81581288
| GBE1 | | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Likely benign
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81640276
- GRCh38:
- Chr3:81591125
| GBE1 | L383P | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Uncertain significance
(Feb 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81539561
- GRCh38:
- Chr3:81490410
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Apr 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81754715
- GRCh38:
- Chr3:81705564
| GBE1 | G65S | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Uncertain significance
(Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81698981
- GRCh38:
- Chr3:81649830
| GBE1 | D174V | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Uncertain significance
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81692116
- GRCh38:
- Chr3:81642965
| GBE1 | Q270K | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Uncertain significance
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81695628
- GRCh38:
- Chr3:81646477
| GBE1 | N233D | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81586106
- GRCh38:
- Chr3:81536955
| GBE1 | M587V | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic, not provided
| Uncertain significance
(Jun 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:81754577
- GRCh38:
- Chr3:81705426
| GBE1 | | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Likely benign
(Nov 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81695650
- GRCh38:
- Chr3:81646499
| GBE1 | | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81627160
- GRCh38:
- Chr3:81578009
| GBE1 | V512L | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81698968
- GRCh38:
- Chr3:81649817
| GBE1 | W178C | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81754741
- GRCh38:
- Chr3:81705590
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Pathogenic
(Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81584436
- GRCh38:
- Chr3:81535285
| GBE1 | A615D | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Uncertain significance
(Dec 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81584466
- GRCh38:
- Chr3:81535315
| GBE1 | S605N | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81692115
- GRCh38:
- Chr3:81642964
| GBE1 | Q270L | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81586051
- GRCh38:
- Chr3:81536900
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81698976
- GRCh38:
- Chr3:81649825
| GBE1 | I176L | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81754619
- GRCh38:
- Chr3:81705468
| GBE1 | G97R | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81640280
- GRCh38:
- Chr3:81591129
| GBE1 | G382R | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81627131
- GRCh38:
- Chr3:81577980
| GBE1 | K521N | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic, Inborn genetic diseases
| Uncertain significance
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:81754676
- GRCh38:
- Chr3:81705525
| GBE1 | V78I | Glycogen 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 |
| - GRCh37:
- Chr3:81635293
- GRCh38:
- Chr3:81586142
| GBE1 | G429S | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Apr 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81584351
- GRCh38:
- Chr3:81535200
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81586188
- GRCh38:
- Chr3:81537037
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81691939
- GRCh38:
- Chr3:81642788
| GBE1 | Y329H | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Likely pathogenic
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81643052
- GRCh38:
- Chr3:81593901
| GBE1 | | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Likely benign
(Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81627230
- GRCh38:
- Chr3:81578079
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81627149
- GRCh38:
- Chr3:81577998
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81698980
- GRCh38:
- Chr3:81649829
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81640297-81640298
- GRCh38:
- Chr3:81591146-81591147
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Pathogenic
(Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81810600
- GRCh38:
- Chr3:81761449
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81640255
- GRCh38:
- Chr3:81591104
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Pathogenic
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81643090
- GRCh38:
- Chr3:81593939
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81692096
- GRCh38:
- Chr3:81642945
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81754755
- GRCh38:
- Chr3:81705604
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81754632
- GRCh38:
- Chr3:81705481
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Apr 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81754746
- GRCh38:
- Chr3:81705595
| GBE1 | Q54H | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81692119
- GRCh38:
- Chr3:81642968
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81635294
- GRCh38:
- Chr3:81586143
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81695577
- GRCh38:
- Chr3:81646426
| GBE1 | G250C | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81698150
- GRCh38:
- Chr3:81648999
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81699073
- GRCh38:
- Chr3:81649922
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely pathogenic
(Apr 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81635233
- GRCh38:
- Chr3:81586082
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81584432
- GRCh38:
- Chr3:81535281
| GBE1 | F616L | Inborn genetic diseases, Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV
| Uncertain significance
(Jul 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:81699051
- GRCh38:
- Chr3:81649900
| GBE1 | G151R | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81627079
- GRCh38:
- Chr3:81577928
| GBE1 | M539L | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81539600
- GRCh38:
- Chr3:81490449
| GBE1 | S689R | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81698086
- GRCh38:
- Chr3:81648935
| GBE1 | | Glycogen storage disease IV, classic hepatic, Glycogen storage disease, type IV | Likely benign
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81643119
- GRCh38:
- Chr3:81593968
| GBE1 | R350C | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81584426
- GRCh38:
- Chr3:81535275
| GBE1 | A619fs | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Pathogenic
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81692099
- GRCh38:
- Chr3:81642948
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81548343
- GRCh38:
- Chr3:81499192
| GBE1 | Y657C | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81720115-81720117
- GRCh38:
- Chr3:81670964-81670966
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81640320
- GRCh38:
- Chr3:81591169
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Likely benign
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81586057
- GRCh38:
- Chr3:81536906
| GBE1 | | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Uncertain significance
(Dec 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:81586122
- GRCh38:
- Chr3:81536971
| GBE1 | N581fs | Glycogen storage disease, type IV, Glycogen storage disease IV, classic hepatic | Pathogenic
(Dec 11, 2021) | criteria provided, single submitter |