S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 1 to 100 of 499

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
AGLGlycogen storage disease IIIaPathogenic
(Jul 16, 1996)
no assertion criteria provided
2.
GRCh37:
Chr1:100315832
GRCh38:
Chr1:99850276
AGLGlycogen storage disease type IIIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr1:100315906
GRCh38:
Chr1:99850350
AGLGlycogen storage disease type IIIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:100315964
GRCh38:
Chr1:99850408
AGLnot specifiedLikely benign
(Nov 7, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr1:100315972
GRCh38:
Chr1:99850416
AGLGlycogen storage disease type IIIUncertain significance
(Apr 28, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr1:100315982
GRCh38:
Chr1:99850426
AGLnot specifiedLikely benign
(Sep 26, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr1:100316589
GRCh38:
Chr1:99851033
AGLnot specified, not provided, Glycogen storage disease type III
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:100316601
GRCh38:
Chr1:99851045
AGLGlycogen storage disease type IIILikely pathogenic
(May 8, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr1:100316614
GRCh38:
Chr1:99851058
AGLnot provided, Glycogen storage disease type III, Glycogen storage disease IIIb
Pathogenic/Likely pathogenic
(Jul 15, 1996)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr1:100316616-100316617
GRCh38:
Chr1:99851060-99851061
AGLGlycogen storage disease type III, Glycogen storage disease IIIb, not provided
Pathogenic/Likely pathogenic
(Sep 6, 2012)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:100316619-100316620
GRCh38:
Chr1:99851064
AGLGlycogen storage disease type IIIPathogenic/Likely pathogenic
(Apr 20, 2018)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:100316620
GRCh38:
Chr1:99851064
AGLGlycogen storage disease type IIILikely pathogenic
(May 18, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr1:100316628
GRCh38:
Chr1:99851072
AGLGlycogen storage disease type IIIUncertain significance
(Jan 11, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr1:100316637
GRCh38:
Chr1:99851081
AGLnot specified, not provided, Glycogen storage disease type III
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr1:100316662
GRCh38:
Chr1:99851106
AGLGlycogen storage disease type IIILikely pathogenic
(Jul 18, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr1:100316676
GRCh38:
Chr1:99851120
AGLGlycogen storage disease type IIILikely benign
(Jul 9, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr1:100316681
GRCh38:
Chr1:99851125
AGLGlycogen storage disease type IIILikely pathogenic
(Dec 27, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr1:100316684
GRCh38:
Chr1:99851128
AGLnot specified, not provided, Glycogen storage disease type III
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr1:100318227
GRCh38:
Chr1:99852671
AGLGlycogen storage disease type IIILikely benign
(Feb 7, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr1:100327025
GRCh38:
Chr1:99861469
AGLnot specifiedLikely benign
(Jul 20, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr1:100327026
GRCh38:
Chr1:99861470
AGLnot specifiedBenign
(Dec 2, 2015)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:100327030
GRCh38:
Chr1:99861474
AGLGlycogen storage disease type IIILikely benign
(Feb 22, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr1:100327032-100327033
GRCh38:
Chr1:99861479
AGLGlycogen storage disease type IIILikely benign
(Jun 21, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr1:100327038-100327039
GRCh38:
Chr1:99861484
AGLGlycogen storage disease type IIILikely benign
(Oct 6, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr1:100327041-100327043
GRCh38:
Chr1:99861486-99861487
AGLGlycogen storage disease type IIILikely benign
(Mar 9, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr1:100327057-100327058
GRCh38:
Chr1:99861504
AGLGlycogen storage disease type IIILikely pathogenic
(Jan 30, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr1:100327070
GRCh38:
Chr1:99861514
AGLGlycogen storage disease type IIILikely pathogenic
(Jun 5, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr1:100327076
GRCh38:
Chr1:99861520
AGLGlycogen storage disease type IIIPathogenic/Likely pathogenic
(Apr 4, 2014)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr1:100327077
GRCh38:
Chr1:99861521
AGLGlycogen storage disease type IIIUncertain significance
(May 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr1:100327079
GRCh38:
Chr1:99861523
AGLnot specifiedLikely benign
(Oct 5, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr1:100327080
GRCh38:
Chr1:99861524
AGLGlycogen storage disease type IIILikely pathogenic
(Feb 25, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr1:100327084
GRCh38:
Chr1:99861528
AGLGlycogen storage disease type IIILikely benign
(Sep 26, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr1:100327088
GRCh38:
Chr1:99861532
AGLnot specified, not provided, Glycogen storage disease type III
Benign/Likely benign
(Mar 9, 2016)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr1:100327089
GRCh38:
Chr1:99861533
AGLGlycogen storage disease type IIIUncertain significance
(Jul 24, 2018)
no assertion criteria provided
35.
GRCh37:
Chr1:100327094
GRCh38:
Chr1:99861538
AGLnot provided, Glycogen storage disease type IIIPathogenic/Likely pathogenic
(Nov 5, 2014)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr1:100327097
GRCh38:
Chr1:99861541
AGLGlycogen storage disease type IIILikely pathogenic
(Jul 19, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr1:100327112
GRCh38:
Chr1:99861556
AGLGlycogen storage disease type IIIUncertain significance
(Feb 4, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr1:100327116
GRCh38:
Chr1:99861560
AGLGlycogen storage disease type IIILikely pathogenic
(Oct 11, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr1:100327169
GRCh38:
Chr1:99861613
AGLGlycogen storage disease type IIIUncertain significance
(Apr 19, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr1:100327183
GRCh38:
Chr1:99861627
AGLnot provided, Glycogen storage disease type III, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr1:100327194-100327197
GRCh38:
Chr1:99861642-99861644
AGLGlycogen storage disease type IIIUncertain significance
(Apr 24, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr1:100327197-100327199
GRCh38:
Chr1:99861643-99861644
AGLGlycogen storage disease type IIILikely pathogenic
(Nov 15, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr1:100327200
GRCh38:
Chr1:99861644
AGLGlycogen storage disease type IIIUncertain significance
(May 16, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr1:100327215
GRCh38:
Chr1:99861659
AGLGlycogen storage disease type IIIUncertain significance
(Apr 10, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr1:100327217
GRCh38:
Chr1:99861661
AGLGlycogen storage disease type IIIUncertain significance
(Feb 27, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr1:100327224
GRCh38:
Chr1:99861668
AGLGlycogen storage disease type IIIUncertain significance
(May 11, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr1:100327227
GRCh38:
Chr1:99861671
AGLGlycogen storage disease type IIIPathogenic
(Mar 22, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr1:100327232
GRCh38:
Chr1:99861676
AGLGlycogen storage disease IIIa, not provided, Glycogen storage disease type III
Pathogenic/Likely pathogenic
(Jul 7, 2017)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:100327237
GRCh38:
Chr1:99861681
AGLGlycogen storage disease type III, not specifiedConflicting interpretations of pathogenicity
(Jan 24, 2017)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr1:100327252
GRCh38:
Chr1:99861696
AGLGlycogen storage disease type IIIPathogenic
(Sep 13, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr1:100327265
GRCh38:
Chr1:99861709
AGLnot providedPathogenic
(Sep 28, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr1:100327268
GRCh38:
Chr1:99861712
AGLGlycogen storage disease type IIIUncertain significance
(Mar 9, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr1:100327270
GRCh38:
Chr1:99861714
AGLGlycogen storage disease type IIILikely pathogenic
(Mar 7, 2016)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:100327272
GRCh38:
Chr1:99861716
AGLnot specified, Glycogen storage disease type IIIConflicting interpretations of pathogenicity
(Jan 25, 2018)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr1:100327811
GRCh38:
Chr1:99862255
AGLGlycogen storage disease type IIILikely pathogenic
(May 16, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr1:100327812
GRCh38:
Chr1:99862256
AGLGlycogen storage disease type IIILikely pathogenic
(Oct 5, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr1:100327824
GRCh38:
Chr1:99862268
AGLnot providedUncertain significance
(Mar 31, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr1:100327829
GRCh38:
Chr1:99862273
AGLGlycogen storage disease type IIIUncertain significance
(Apr 11, 2017)
criteria provided, single submitter
59.
GRCh37:
Chr1:100327837
GRCh38:
Chr1:99862281
AGLGlycogen storage disease type IIIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr1:100327853
GRCh38:
Chr1:99862297
AGLGlycogen storage disease type IIIConflicting interpretations of pathogenicity
(Jun 13, 2018)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr1:100327859
GRCh38:
Chr1:99862303
AGLGlycogen storage disease type IIIUncertain significance
(Oct 3, 2017)
criteria provided, single submitter
62.
GRCh37:
Chr1:100327860
GRCh38:
Chr1:99862304
AGLGlycogen storage disease type IIIUncertain significance
(Apr 2, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr1:100327860
GRCh38:
Chr1:99862304
AGLGlycogen storage disease type IIIUncertain significance
(May 30, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr1:100327867-100327892
GRCh38:
Chr1:99862311-99862336
AGLGlycogen storage disease type IIILikely pathogenic
(Dec 14, 2015)
criteria provided, single submitter
65.
GRCh37:
Chr1:100327884
GRCh38:
Chr1:99862328
AGLGlycogen storage disease type IIIUncertain significance
(Apr 30, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr1:100327897
GRCh38:
Chr1:99862341
AGLGlycogen storage disease type IIIPathogenic
(Dec 7, 2017)
no assertion criteria provided
67.
GRCh37:
Chr1:100327938-100327941
GRCh38:
Chr1:99862386-99862388
AGLGlycogen storage disease type IIIUncertain significance
(May 22, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr1:100327956
GRCh38:
Chr1:99862400
AGLGlycogen storage disease type IIILikely pathogenic
(Oct 11, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr1:100327961
GRCh38:
Chr1:99862405
AGLGlycogen storage disease type IIILikely pathogenic
(Jan 11, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr1:100327980
GRCh38:
Chr1:99862424
AGLGlycogen storage disease type IIILikely pathogenic
(Feb 9, 2017)
criteria provided, single submitter
71.
GRCh37:
Chr1:100327986
GRCh38:
Chr1:99862430
AGLGlycogen storage disease type IIILikely benign
(May 18, 2017)
criteria provided, single submitter
72.
GRCh37:
Chr1:100329948
GRCh38:
Chr1:99864392
AGLGlycogen storage disease type IIIUncertain significance
(Nov 7, 2017)
criteria provided, single submitter
73.
GRCh37:
Chr1:100329979
GRCh38:
Chr1:99864425
AGLGlycogen storage disease type IIILikely pathogenic
(Feb 24, 2017)
criteria provided, single submitter
74.
GRCh37:
Chr1:100329996
GRCh38:
Chr1:99864440
AGLGlycogen storage disease type IIIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr1:100330016-100330019
GRCh38:
Chr1:99864460-99864463
AGLnot providedPathogenic
(Mar 12, 2015)
criteria provided, single submitter
76.
GRCh37:
Chr1:100330090
GRCh38:
Chr1:99864534
AGLGlycogen storage disease type IIIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr1:100330092
GRCh38:
Chr1:99864536
AGLno interpretation for the single variantno interpretation for the single variant
78.
GRCh37:
Chr1:100330102
GRCh38:
Chr1:99864546
AGLGlycogen storage disease type IIILikely benign
(Jan 19, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr1:100330137
GRCh38:
Chr1:99864581
AGLGlycogen storage disease type IIIUncertain significance
(Nov 22, 2017)
criteria provided, single submitter
80.
GRCh37:
Chr1:100330140
GRCh38:
Chr1:99864584
AGLnot providedLikely pathogenic
(Sep 30, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr1:100330146
GRCh38:
Chr1:99864590
AGLGlycogen storage disease type IIILikely pathogenic
(Jan 5, 2017)
criteria provided, single submitter
82.
GRCh37:
Chr1:100330148
GRCh38:
Chr1:99864592
AGLGlycogen storage disease IIIa, Glycogen storage disease type IIIPathogenic/Likely pathogenic
(Sep 30, 2014)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:100335963
GRCh38:
Chr1:99870407
AGLGlycogen storage disease type IIILikely pathogenic
(Feb 9, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr1:100335972
GRCh38:
Chr1:99870416
AGLGlycogen storage disease type IIIUncertain significance
(Jun 2, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr1:100335977
GRCh38:
Chr1:99870421
AGLnot specified, Glycogen storage disease type III, not provided
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr1:100336001
GRCh38:
Chr1:99870445
AGLnot providedUncertain significance
(Oct 26, 2015)
no assertion criteria provided
87.
GRCh37:
Chr1:100336044-100336047
GRCh38:
Chr1:99870488-99870491
AGLGlycogen storage disease type IIIPathogenic
(Feb 26, 2016)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr1:100336045
GRCh38:
Chr1:99870489
AGLGlycogen storage disease type IIIUncertain significance
(Jun 22, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr1:100336057
GRCh38:
Chr1:99870501
AGLGlycogen storage disease type IIIUncertain significance
(Jan 19, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr1:100336058
GRCh38:
Chr1:99870502
AGLnot specified, Glycogen storage disease type IIIUncertain significance
(Dec 21, 2016)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr1:100336063
GRCh38:
Chr1:99870507
AGLGlycogen storage disease type IIIUncertain significance
(Dec 30, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr1:100336128
GRCh38:
Chr1:99870572
AGLGlycogen storage disease type IIIUncertain significance
(Feb 8, 2018)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr1:100336132
GRCh38:
Chr1:99870576
AGLGlycogen storage disease type IIIUncertain significance
(May 16, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr1:100336145
GRCh38:
Chr1:99870589
AGLGlycogen storage disease type IIIUncertain significance
(Dec 24, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr1:100336151
GRCh38:
Chr1:99870595
AGLnot specifiedLikely benign
(Sep 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr1:100336294
GRCh38:
Chr1:99870738
AGLnot specifiedLikely benign
(Jul 12, 2017)
criteria provided, single submitter
97.
GRCh37:
Chr1:100336307
GRCh38:
Chr1:99870751
AGLGlycogen storage disease type IIIUncertain significance
(Jun 2, 2017)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr1:100336320
GRCh38:
Chr1:99870764
AGLGlycogen storage disease type IIIPathogenic
(Jan 6, 2017)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr1:100336320-100336321
GRCh38:
Chr1:99870765
AGLGlycogen storage disease type IIILikely pathogenic
(Dec 24, 2017)
criteria provided, single submitter
100.
GRCh37:
Chr1:100336321
GRCh38:
Chr1:99870765
AGLGlycogen storage disease type III, not providedUncertain significance
(Feb 17, 2018)
criteria provided, multiple submitters, no conflicts
Format
Items per page
Sort by

Download:

Choose Destination
Support Center