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Items: 1 to 100 of 565

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr9:134378295
GRCh38:
Chr9:131502908
POMT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000365269
2.
GRCh37:
Chr9:134378296
GRCh38:
Chr9:131502909
POMT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000365270
3.
GRCh37:
Chr9:134378323
GRCh38:
Chr9:131502936
POMT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000365271
4.
GRCh37:
Chr9:134378408
GRCh38:
Chr9:131503021
POMT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000914770
5.
GRCh37:
Chr9:134378454
GRCh38:
Chr9:131503067
POMT1not providedLikely benign
(Apr 19, 2018)
criteria provided, single submitterVCV000682188
6.
GRCh37:
Chr9:134378476
GRCh38:
Chr9:131503089
POMT1not specifiedLikely benign
(Jun 12, 2017)
criteria provided, single submitterVCV000516501
7.
GRCh37:
Chr9:134378685-134378686
GRCh38:
Chr9:131503298-131503299
POMT1not specifiedLikely benign
(Oct 3, 2016)
criteria provided, single submitterVCV000420324
8.
GRCh37:
Chr9:134379560
GRCh38:
Chr9:131504173
POMT1not specifiedLikely benign
(Apr 26, 2017)
criteria provided, single submitterVCV000509284
9.
GRCh37:
Chr9:134379576
GRCh38:
Chr9:131504189
POMT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000365272
10.
GRCh37:
Chr9:134379584
GRCh38:
Chr9:131504197
POMT1Limb-Girdle Muscular Dystrophy, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000365273
11.
GRCh37:
Chr9:134379586
GRCh38:
Chr9:131504199
POMT1not specifiedLikely benign
(Jul 20, 2017)
criteria provided, multiple submitters, no conflictsVCV000260137
12.
GRCh37:
Chr9:134379600
GRCh38:
Chr9:131504213
POMT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, not specified, not provided
Benign/Likely benign
(Apr 27, 2017)
criteria provided, multiple submitters, no conflictsVCV000260138
13.
GRCh37:
Chr9:134379631
GRCh38:
Chr9:131504244
POMT1V9ALimb-girdle muscular dystrophy-dystroglycanopathy, type C1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000914771
14.
GRCh37:
Chr9:134379635
GRCh38:
Chr9:131504248
POMT1Walker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1,
not provided
Conflicting interpretations of pathogenicity
(Dec 1, 2020)
criteria provided, conflicting interpretationsVCV000538729
15.
GRCh37:
Chr9:134379641
GRCh38:
Chr9:131504254
POMT1Walker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1,
not provided, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Conflicting interpretations of pathogenicity
(Oct 29, 2019)
criteria provided, conflicting interpretationsVCV000365274
16.
GRCh37:
Chr9:134379647
GRCh38:
Chr9:131504260
POMT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Walker-Warburg congenital muscular dystrophy,
not specified, not provided
Conflicting interpretations of pathogenicity
(Feb 4, 2021)
criteria provided, conflicting interpretationsVCV000195272
17.
GRCh37:
Chr9:134379662
GRCh38:
Chr9:131504275
POMT1not specified, not providedConflicting interpretations of pathogenicity
(Nov 11, 2016)
criteria provided, conflicting interpretationsVCV000286161
18.
GRCh37:
Chr9:134379683
GRCh38:
Chr9:131504296
POMT1not specified, not provided, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1,
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Walker-Warburg congenital muscular dystrophy
Benign/Likely benign
(Nov 30, 2020)
criteria provided, multiple submitters, no conflictsVCV000130013
19.
GRCh37:
Chr9:134379714-134379715
GRCh38:
Chr9:131504327-131504328
POMT1V40fsDysgenesis of the cerebellar vermisPathogenic
(Oct 16, 2019)
criteria provided, single submitterVCV000978655
20.
GRCh37:
Chr9:134379716
GRCh38:
Chr9:131504329
POMT1not provided, Walker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1,
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Likely benign
(Mar 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000671763
21.
GRCh37:
Chr9:134379716
GRCh38:
Chr9:131504329
POMT1not provided, Walker-Warburg congenital muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1,
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, not specified
Likely benign
(Dec 11, 2018)
criteria provided, multiple submitters, no conflictsVCV000386991
22.
GRCh37:
Chr9:134379732
GRCh38:
Chr9:131504345
POMT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Walker-Warburg congenital muscular dystrophy,
not provided
Uncertain significance
(Apr 10, 2018)
criteria provided, multiple submitters, no conflictsVCV000285653
23.
GRCh37:
Chr9:134379975
GRCh38:
Chr9:131504588
POMT1not providedLikely benign
(Sep 22, 2018)
criteria provided, single submitterVCV001219316
24.
GRCh37:
Chr9:134381153
GRCh38:
Chr9:131505766
POMT1not providedLikely benign
(Jul 9, 2018)
criteria provided, single submitterVCV001194736
25.
GRCh37:
Chr9:134381487-134381488
GRCh38:
Chr9:131506100-131506101
POMT1Limb-Girdle Muscular Dystrophy, Recessive, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000196450
26.
GRCh37:
Chr9:134381487-134381488
GRCh38:
Chr9:131506100-131506101
POMT1Limb-Girdle Muscular Dystrophy, Recessive, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Walker-Warburg congenital muscular dystrophy,
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Congenital muscular dystrophy, not specified
Benign/Likely benign
(Nov 26, 2020)
criteria provided, multiple submitters, no conflictsVCV000095453
27.
GRCh37:
Chr9:134381495
GRCh38:
Chr9:131506108
POMT1Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Walker-Warburg congenital muscular dystrophy,
not provided
Conflicting interpretations of pathogenicity
(Oct 30, 2020)
criteria provided, conflicting interpretationsVCV000593483
28.
GRCh37:
Chr9:134381507
GRCh38:
Chr9:131506120
POMT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Walker-Warburg congenital muscular dystrophy,
not provided, not specified
Conflicting interpretations of pathogenicity
(Nov 16, 2020)
criteria provided, conflicting interpretationsVCV000196451
29.
GRCh37:
Chr9:134381510
GRCh38:
Chr9:131506123
POMT1E44DLimb-girdle muscular dystrophy-dystroglycanopathy, type C1, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Walker-Warburg congenital muscular dystrophy,
not provided
Likely pathogenic
(Oct 30, 2020)
criteria provided, multiple submitters, no conflictsVCV000095456
30.
GRCh37:
Chr9:134381519
GRCh38:
Chr9:131506132
POMT1not providedUncertain significance
(Nov 9, 2017)
criteria provided, single submitterVCV000594857
31.
GRCh37:
Chr9:134381522-134381523
GRCh38:
Chr9:131506135-131506136
POMT1Walker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Pathogenic
(Aug 20, 2020)
criteria provided, single submitterVCV001076965
32.
GRCh37:
Chr9:134381529
GRCh38:
Chr9:131506142
POMT1I51Fnot provided, Walker-Warburg congenital muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1,
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Uncertain significance
(Jun 9, 2017)
criteria provided, multiple submitters, no conflictsVCV000291107
33.
GRCh37:
Chr9:134381532
GRCh38:
Chr9:131506145
POMT1S52PWalker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Uncertain significance
(Jul 24, 2017)
criteria provided, single submitterVCV000471378
34.
GRCh37:
Chr9:134381547
GRCh38:
Chr9:131506160
POMT1Q3*, Q57*Dysgenesis of the cerebellar vermisPathogenic
(Oct 16, 2019)
criteria provided, single submitterVCV000978656
35.
GRCh37:
Chr9:134381551-134381553
GRCh38:
Chr9:131506164-131506166
POMT1F60del, F6delWalker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1,
not provided, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Conflicting interpretations of pathogenicity
(Jan 2, 2020)
criteria provided, conflicting interpretationsVCV000431953
36.
GRCh37:
Chr9:134381556
GRCh38:
Chr9:131506169
POMT1F60L, F6Lnot providedUncertain significance
(Sep 14, 2017)
criteria provided, single submitterVCV000586368
37.
GRCh37:
Chr9:134381559
GRCh38:
Chr9:131506172
POMT1L61M, L7Mnot providedUncertain significance
(Nov 2, 2015)
criteria provided, single submitterVCV000284445
38.
GRCh37:
Chr9:134381561
GRCh38:
Chr9:131506174
POMT1Walker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Uncertain significance
(Mar 1, 2020)
criteria provided, single submitterVCV001004877
39.
GRCh37:
Chr9:134381571
GRCh38:
Chr9:131506184
POMT1G65R, G11RMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1Pathogenic
(May 26, 2009)
no assertion criteria providedVCV000003244
40.
GRCh37:
Chr9:134381575
GRCh38:
Chr9:131506188
POMT1P66L, P12LWalker-Warburg congenital muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1,
not provided
Uncertain significance
(Sep 27, 2021)
criteria provided, multiple submitters, no conflictsVCV000502200
41.
GRCh37:
Chr9:134381575
GRCh38:
Chr9:131506188
POMT1P66R, P12Rnot providedUncertain significance
(Apr 7, 2015)
criteria provided, single submitterVCV000196452
42.
GRCh37:
Chr9:134381576
GRCh38:
Chr9:131506189
POMT1Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Walker-Warburg congenital muscular dystrophy,
not provided
Likely benign
(Aug 24, 2020)
criteria provided, single submitterVCV000705635
43.
GRCh37:
Chr9:134381580
GRCh38:
Chr9:131506193
POMT1F68L, F14Lnot providedUncertain significance
(Oct 25, 2016)
criteria provided, single submitterVCV000497850
44.
GRCh37:
Chr9:134381583
GRCh38:
Chr9:131506196
POMT1G15S, G69SWalker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Uncertain significance
(Sep 14, 2020)
criteria provided, single submitterVCV000998595
45.
GRCh37:
Chr9:134381586
GRCh38:
Chr9:131506199
POMT1H70N, H16Nnot providedUncertain significance
(Mar 17, 2016)
criteria provided, single submitterVCV000286811
46.
GRCh37:
Chr9:134381592
GRCh38:
Chr9:131506205
POMT1V72L, V18Lnot providedUncertain significance
(Feb 23, 2016)
criteria provided, single submitterVCV000286217
47.
GRCh37:
Chr9:134381604
GRCh38:
Chr9:131506217
POMT1G76R, G22RMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, not providedPathogenic
(Feb 1, 2020)
criteria provided, single submitterVCV000003238
48.
GRCh37:
Chr9:134381609
GRCh38:
Chr9:131506222
POMT1Walker-Warburg congenital muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Likely pathogenic
(Aug 30, 2019)
criteria provided, single submitterVCV000953462
49.
GRCh37:
Chr9:134381806
GRCh38:
Chr9:131506419
POMT1R47*Walker-Warburg congenital muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1,
not provided
Conflicting interpretations of pathogenicity
(Nov 5, 2019)
criteria provided, conflicting interpretationsVCV000290090
50.
GRCh37:
Chr9:134381807
GRCh38:
Chr9:131506420
POMT1D83N, D29N, R47QWalker-Warburg congenital muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1,
not provided
Uncertain significance
(Aug 26, 2019)
criteria provided, multiple submitters, no conflictsVCV000290628
51.
GRCh37:
Chr9:134381824
GRCh38:
Chr9:131506437
POMT1E53K, W34*, W88*Walker-Warburg congenital muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Pathogenic
(Jul 26, 2019)
criteria provided, single submitterVCV000956205
52.
GRCh37:
Chr9:134381841
GRCh38:
Chr9:131506454
POMT1not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1Pathogenic
(Sep 15, 2021)
criteria provided, multiple submitters, no conflictsVCV000691982
53.
GRCh37:
Chr9:134381846-134381847
GRCh38:
Chr9:131506459-131506460
POMT1not specified, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Walker-Warburg congenital muscular dystrophy,
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Conflicting interpretations of pathogenicity
(Oct 20, 2020)
criteria provided, conflicting interpretationsVCV000436374
54.
GRCh37:
Chr9:134381871
GRCh38:
Chr9:131506484
POMT1not providedLikely benign
(Sep 22, 2018)
criteria provided, single submitterVCV001210547
55.
GRCh37:
Chr9:134382111
GRCh38:
Chr9:131506724
POMT1not providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000683933
56.
GRCh37:
Chr9:134382458
GRCh38:
Chr9:131507071
POMT1not providedLikely benign
(Oct 10, 2019)
criteria provided, single submitterVCV001196018
57.
GRCh37:
Chr9:134382556
GRCh38:
Chr9:131507169
POMT1not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000667978
58.
GRCh37:
Chr9:134382595
GRCh38:
Chr9:131507208
POMT1not providedLikely benign
(Sep 22, 2018)
criteria provided, single submitterVCV001209018
59.
GRCh37:
Chr9:134382670
GRCh38:
Chr9:131507283
POMT1not providedLikely benign
(Jul 15, 2018)
criteria provided, single submitterVCV001212612
60.
GRCh37:
Chr9:134382673
GRCh38:
Chr9:131507286
POMT1not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000667979
61.
GRCh37:
Chr9:134382750
GRCh38:
Chr9:131507363
POMT1not specifiedLikely benign
(Dec 1, 2016)
criteria provided, single submitterVCV000391225
62.
GRCh37:
Chr9:134382759
GRCh38:
Chr9:131507372
POMT1Walker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Likely benign
(Feb 15, 2020)
criteria provided, single submitterVCV000471380
63.
GRCh37:
Chr9:134382765
GRCh38:
Chr9:131507378
POMT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Walker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Likely benign
(Sep 23, 2019)
criteria provided, single submitterVCV001147958
64.
GRCh37:
Chr9:134382784
GRCh38:
Chr9:131507397
POMT1not provided, Walker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1,
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Conflicting interpretations of pathogenicity
(Oct 20, 2020)
criteria provided, conflicting interpretationsVCV000095464
65.
GRCh37:
Chr9:134382802
GRCh38:
Chr9:131507415
POMT1L110F, L56F, L80FWalker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Uncertain significance
(Oct 6, 2017)
criteria provided, single submitterVCV000538719
66.
GRCh37:
Chr9:134382804
GRCh38:
Chr9:131507417
POMT1not provided, Walker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1,
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Likely benign
(Feb 10, 2020)
criteria provided, single submitterVCV000743786
67.
GRCh37:
Chr9:134382804
GRCh38:
Chr9:131507417
POMT1not provided, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1,
Walker-Warburg congenital muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Conflicting interpretations of pathogenicity
(Sep 21, 2020)
criteria provided, conflicting interpretationsVCV000283974
68.
GRCh37:
Chr9:134382806
GRCh38:
Chr9:131507419
POMT1A111V, A57V, A81VWalker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Uncertain significance
(Sep 17, 2020)
criteria provided, single submitterVCV000471381
69.
GRCh37:
Chr9:134382819
GRCh38:
Chr9:131507432
POMT1not specified, Walker-Warburg congenital muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1,
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, not provided
Conflicting interpretations of pathogenicity
(Jun 13, 2020)
criteria provided, conflicting interpretationsVCV000285048
70.
GRCh37:
Chr9:134382841
GRCh38:
Chr9:131507454
POMT1V6L, V123L, V69L, V93LWalker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Uncertain significance
(Oct 19, 2018)
criteria provided, single submitterVCV000663812
71.
GRCh37:
Chr9:134382863
GRCh38:
Chr9:131507476
POMT1H130P, H100P, H13P, H76PWalker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Uncertain significance
(Nov 10, 2017)
criteria provided, single submitterVCV000471382
72.
GRCh37:
Chr9:134382875
GRCh38:
Chr9:131507488
POMT1M134T, M104T, M17T, M80Tnot provided, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Walker-Warburg congenital muscular dystrophy,
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Uncertain significance
(Apr 19, 2018)
criteria provided, multiple submitters, no conflictsVCV000574156
73.
GRCh37:
Chr9:134382882
GRCh38:
Chr9:131507495
POMT1not provided, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Walker-Warburg congenital muscular dystrophy,
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Likely benign
(Mar 18, 2020)
criteria provided, single submitterVCV000793828
74.
GRCh37:
Chr9:134382888
GRCh38:
Chr9:131507501
POMT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Walker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Pathogenic
(Mar 22, 2019)
criteria provided, single submitterVCV000864585
75.
GRCh37:
Chr9:134382890-134382892
GRCh38:
Chr9:131507503-131507505
POMT1M140del, M86del, M110del, M23delMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1Pathogenic
(May 26, 2009)
no assertion criteria providedVCV000003254
76.
GRCh37:
Chr9:134382898
GRCh38:
Chr9:131507511
POMT1I142F, I112F, I25F, I88Fnot provided, Walker-Warburg congenital muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1,
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Uncertain significance
(Dec 18, 2019)
criteria provided, multiple submitters, no conflictsVCV000284889
77.
GRCh37:
Chr9:134382899
GRCh38:
Chr9:131507512
POMT1I142T, I112T, I88T, I25Tnot providedUncertain significance
(Jul 11, 2018)
criteria provided, single submitterVCV000597946
78.
GRCh37:
Chr9:134382900
GRCh38:
Chr9:131507513
POMT1Walker-Warburg congenital muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1,
not provided
Uncertain significance
(Sep 11, 2019)
criteria provided, multiple submitters, no conflictsVCV000538726
79.
GRCh37:
Chr9:134382902
GRCh38:
Chr9:131507515
POMT1Walker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Likely pathogenic
(Jan 29, 2020)
criteria provided, single submitterVCV001067618
80.
GRCh37:
Chr9:134382902-134382903
GRCh38:
Chr9:131507515-131507516
POMT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1Likely pathogenic
(Jan 1, 2019)
criteria provided, single submitterVCV000982897
81.
GRCh37:
Chr9:134382909
GRCh38:
Chr9:131507522
POMT1not providedUncertain significance
(Jun 1, 2016)
criteria provided, single submitterVCV000810448
82.
GRCh37:
Chr9:134382913
GRCh38:
Chr9:131507526
POMT1not specifiedLikely benigncriteria provided, single submitterVCV000260148
83.
GRCh37:
Chr9:134382973
GRCh38:
Chr9:131507586
POMT1not providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV001212043
84.
GRCh37:
Chr9:134383159
GRCh38:
Chr9:131507772
POMT1not providedBenign
(Jun 22, 2018)
criteria provided, single submitterVCV001244292
85.
GRCh37:
Chr9:134383958
GRCh38:
Chr9:131508571
POMT1not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000683940
86.
GRCh37:
Chr9:134384066
GRCh38:
Chr9:131508679
POMT1not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000667980
87.
GRCh37:
Chr9:134384160
GRCh38:
Chr9:131508773
POMT1not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001222811
88.
GRCh37:
Chr9:134384277
GRCh38:
Chr9:131508890
POMT1not specified, not providedBenign
(Jun 14, 2018)
criteria provided, multiple submitters, no conflictsVCV000260149
89.
GRCh37:
Chr9:134384296
GRCh38:
Chr9:131508909
POMT1not providedLikely pathogenic
(Oct 11, 2017)
criteria provided, single submitterVCV000452621
90.
GRCh37:
Chr9:134384300
GRCh38:
Chr9:131508913
POMT1N144D, N90D, N114D, N27DLimb-girdle muscular dystrophy-dystroglycanopathy, type C1Pathogenic
(Dec 1, 2012)
no assertion criteria providedVCV000039434
91.
GRCh37:
Chr9:134384313
GRCh38:
Chr9:131508926
POMT1T148N, T94N, T118N, T31NCongenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1Pathogenic
(Sep 20, 2018)
criteria provided, single submitterVCV000562183
92.
GRCh37:
Chr9:134384322
GRCh38:
Chr9:131508935
POMT1R151T, R121T, R97T, R34Tnot providedUncertain significance
(Apr 28, 2016)
criteria provided, single submitterVCV000095465
93.
GRCh37:
Chr9:134384329
GRCh38:
Chr9:131508942
POMT1M153I, M36I, M123I, M99I, M1ILimb-girdle muscular dystrophy-dystroglycanopathy, type C1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000912810
94.
GRCh37:
Chr9:134384351
GRCh38:
Chr9:131508964
POMT1F162fs, F45fs, F108fs, F132fs, F10fsWalker-Warburg congenital muscular dystrophyLikely pathogenic
(Mar 2, 2017)
criteria provided, single submitterVCV000505535
95.
GRCh37:
Chr9:134384358
GRCh38:
Chr9:131508971
POMT1N163S, N109S, N133S, N46S, N11SWalker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1,
not provided
Uncertain significance
(Apr 2, 2018)
criteria provided, multiple submitters, no conflictsVCV000471383
96.
GRCh37:
Chr9:134384371
GRCh38:
Chr9:131508984
POMT1not specifiedLikely benign
(Jul 24, 2017)
criteria provided, single submitterVCV000511066
97.
GRCh37:
Chr9:134384386
GRCh38:
Chr9:131508999
POMT1K118N, K142N, K172N, K20N, K55NLimb-girdle muscular dystrophy-dystroglycanopathy, type C1, Walker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Uncertain significance
(Apr 9, 2019)
criteria provided, single submitterVCV000858304
98.
GRCh37:
Chr9:134384408
GRCh38:
Chr9:131509021
POMT1S28R, S126R, S63R, S150R, S180RWalker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1, Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Uncertain significance
(Jul 30, 2020)
criteria provided, single submitterVCV001047369
99.
GRCh37:
Chr9:134384412
GRCh38:
Chr9:131509025
POMT1not providedUncertain significance
(Nov 13, 2017)
criteria provided, single submitterVCV000586370
100.
GRCh37:
Chr9:134384412
GRCh38:
Chr9:131509025
POMT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C1, Walker-Warburg congenital muscular dystrophy, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1,
not specified
Conflicting interpretations of pathogenicity
(Jul 12, 2020)
criteria provided, conflicting interpretationsVCV000383121
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