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Items: 1 to 100 of 652

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:45935520-46686477
GRCh38:
Chr1:45469848-46220805
See casesLikely benign
(Apr 4, 2013)
no assertion criteria providedVCV000152740
2.
GRCh37:
Chr1:45953923-46686477
GRCh38:
Chr1:45488251-46220805
See casesUncertain significance
(Sep 12, 2011)
no assertion criteria providedVCV000148588
3.
GRCh37:
Chr1:46654371-46655681
GRCh38:
Chr1:46188699-46190009
POMGNT1, TSPAN1Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Likely pathogenic
(Jun 9, 2018)
criteria provided, single submitterVCV000583747
4.
GRCh37:
Chr1:46654371-46663513
GRCh38:
Chr1:46188699-46197841
TSPAN1, POMGNT1Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3Uncertain significance
(Jul 30, 2018)
criteria provided, single submitterVCV000471397
5.
GRCh37:
Chr1:46654411
GRCh38:
Chr1:46188739
TSPAN1, POMGNT1Q743*Muscle eye brain diseaseUncertain significance
(Aug 8, 2017)
criteria provided, single submitterVCV000553241
6.
GRCh37:
Chr1:46654429
GRCh38:
Chr1:46188757
TSPAN1, POMGNT1L737fsMuscle eye brain diseaseUncertain significance
(Oct 25, 2017)
criteria provided, single submitterVCV000554543
7.
GRCh37:
Chr1:46654442
GRCh38:
Chr1:46188770
TSPAN1, POMGNT1W732*Muscle eye brain diseaseUncertain significance
(Jan 30, 2017)
criteria provided, single submitterVCV000550470
8.
GRCh37:
Chr1:46654443
GRCh38:
Chr1:46188771
POMGNT1, TSPAN1W732*Muscle eye brain diseaseUncertain significance
(Nov 2, 2017)
criteria provided, single submitterVCV000554758
9.
GRCh37:
Chr1:46654485
GRCh38:
Chr1:46188813
TSPAN1, POMGNT1A718VRetinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3,
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
Uncertain significance
(Jul 22, 2021)
criteria provided, single submitterVCV001209779
10.
GRCh37:
Chr1:46654491
GRCh38:
Chr1:46188819
TSPAN1, POMGNT1A716VCongenital Muscular Dystrophy, alpha-dystroglycan related, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000297532
11.
GRCh37:
Chr1:46654536-46654537
GRCh38:
Chr1:46188864-46188865
TSPAN1, POMGNT1A701fsMuscle eye brain diseaseUncertain significance
(Dec 4, 2017)
criteria provided, single submitterVCV000555405
12.
GRCh37:
Chr1:46654581-46654607
GRCh38:
Chr1:46188909-46188935
TSPAN1, POMGNT1Muscle eye brain diseaseUncertain significance
(Apr 29, 2018)
criteria provided, single submitterVCV000558144
13.
GRCh37:
Chr1:46654721
GRCh38:
Chr1:46189049
POMGNT1, TSPAN1Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital Muscular Dystrophy, alpha-dystroglycan related, not provided
Conflicting interpretations of pathogenicity
(Jul 17, 2018)
criteria provided, conflicting interpretationsVCV000876536
14.
GRCh37:
Chr1:46654735
GRCh38:
Chr1:46189063
TSPAN1, POMGNT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital Muscular Dystrophy, alpha-dystroglycan relatedUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876537
15.
GRCh37:
Chr1:46654908
GRCh38:
Chr1:46189236
TSPAN1, POMGNT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital Muscular Dystrophy, alpha-dystroglycan relatedUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000873654
16.
GRCh37:
Chr1:46654909-46654912
GRCh38:
Chr1:46189237-46189240
TSPAN1, POMGNT1Muscle eye brain diseaseUncertain significance
(Apr 6, 2018)
criteria provided, single submitterVCV000557754
17.
GRCh37:
Chr1:46654931
GRCh38:
Chr1:46189259
POMGNT1, TSPAN1G657fsAutism spectrum disorderUncertain significance
(Apr 20, 2020)
criteria provided, single submitterVCV000978968
18.
GRCh37:
Chr1:46654932-46654934
GRCh38:
Chr1:46189260-46189262
TSPAN1, POMGNT1P656delMuscle eye brain diseaseUncertain significance
(Nov 8, 2017)
criteria provided, single submitterVCV000554892
19.
GRCh37:
Chr1:46654940
GRCh38:
Chr1:46189268
TSPAN1, POMGNT1R653SMuscle eye brain diseaseUncertain significance
(Aug 14, 2020)
no assertion criteria providedVCV000989704
20.
GRCh37:
Chr1:46654946
GRCh38:
Chr1:46189274
TSPAN1, POMGNT1T660I, T638I, T517Inot provided, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
Uncertain significance
(May 21, 2019)
criteria provided, multiple submitters, no conflictsVCV000285069
21.
GRCh37:
Chr1:46654950-46654951
GRCh38:
Chr1:46189278-46189279
POMGNT1, TSPAN1Muscle eye brain diseaseUncertain significance
(Apr 5, 2018)
criteria provided, single submitterVCV000557715
22.
GRCh37:
Chr1:46654966
GRCh38:
Chr1:46189294
TSPAN1, POMGNT1P645SLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Likely benign
(May 3, 2020)
criteria provided, single submitterVCV001084678
23.
GRCh37:
Chr1:46654972
GRCh38:
Chr1:46189300
TSPAN1, POMGNT1G643RLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Likely benign
(Nov 13, 2019)
criteria provided, single submitterVCV001100990
24.
GRCh37:
Chr1:46654975
GRCh38:
Chr1:46189303
TSPAN1, POMGNT1G642RLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Likely benign
(Jul 13, 2020)
criteria provided, single submitterVCV001086648
25.
GRCh37:
Chr1:46654978
GRCh38:
Chr1:46189306
TSPAN1, POMGNT1K649N, G641*, K506N, K627NMuscle eye brain diseaseUncertain significance
(Nov 14, 2017)
criteria provided, single submitterVCV000554700
26.
GRCh37:
Chr1:46654992
GRCh38:
Chr1:46189320
POMGNT1, TSPAN1G636A, E645Q, E502Q, E623Qnot provided, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
Uncertain significance
(Jul 15, 2019)
criteria provided, multiple submitters, no conflictsVCV000289586
27.
GRCh37:
Chr1:46654995
GRCh38:
Chr1:46189323
TSPAN1, POMGNT1P635LLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Likely benign
(Apr 16, 2019)
criteria provided, single submitterVCV001118132
28.
GRCh37:
Chr1:46654996
GRCh38:
Chr1:46189324
TSPAN1, POMGNT1P635SLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Likely benign
(Feb 8, 2020)
criteria provided, single submitterVCV001093257
29.
GRCh37:
Chr1:46654997
GRCh38:
Chr1:46189325
POMGNT1, TSPAN1F500fs, F643fs, F621fs, P635fsMuscle eye brain diseaseLikely pathogenicno assertion criteria providedVCV000056596
30.
GRCh37:
Chr1:46654998
GRCh38:
Chr1:46189326
POMGNT1, TSPAN1F643V, F634C, F621V, F500Vnot provided, Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscle eye brain disease,
Limb-Girdle Muscular Dystrophy, Recessive, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3,
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Retinitis pigmentosa 76, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3,
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
Uncertain significance
(Jul 22, 2021)
criteria provided, multiple submitters, no conflictsVCV000289590
31.
GRCh37:
Chr1:46655001
GRCh38:
Chr1:46189329
POMGNT1, TSPAN1I642F, N633I, I499F, I620Fnot providedUncertain significance
(Jan 19, 2018)
criteria provided, single submitterVCV000586373
32.
GRCh37:
Chr1:46655001
GRCh38:
Chr1:46189329
TSPAN1, POMGNT1I642V, N633S, I620V, I499VCongenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, not provided
Uncertain significance
(Dec 20, 2019)
criteria provided, multiple submitters, no conflictsVCV000448109
33.
GRCh37:
Chr1:46655002
GRCh38:
Chr1:46189330
TSPAN1, POMGNT1N633DLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Likely benign
(Jul 5, 2019)
criteria provided, single submitterVCV001091496
34.
GRCh37:
Chr1:46655002
GRCh38:
Chr1:46189330
TSPAN1, POMGNT1N633HCongenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, not provided
Conflicting interpretations of pathogenicity
(Nov 17, 2020)
criteria provided, conflicting interpretationsVCV000288627
35.
GRCh37:
Chr1:46655006
GRCh38:
Chr1:46189334
TSPAN1, POMGNT1T497I, T618I, T640ICongenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3Uncertain significance
(Aug 25, 2018)
criteria provided, single submitterVCV000661391
36.
GRCh37:
Chr1:46655011
GRCh38:
Chr1:46189339
TSPAN1, POMGNT1S630RCongenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3Likely benign
(Jul 25, 2019)
criteria provided, single submitterVCV001131917
37.
GRCh37:
Chr1:46655011
GRCh38:
Chr1:46189339
TSPAN1, POMGNT1S630CCongenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3Likely benign
(Sep 21, 2020)
criteria provided, single submitterVCV001122246
38.
GRCh37:
Chr1:46655014
GRCh38:
Chr1:46189342
TSPAN1, POMGNT1L629VLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Uncertain significance
(Sep 17, 2019)
criteria provided, single submitterVCV000856846
39.
GRCh37:
Chr1:46655014
GRCh38:
Chr1:46189342
TSPAN1, POMGNT1L629Fnot providedUncertain significance
(Oct 23, 2015)
criteria provided, single submitterVCV000283761
40.
GRCh37:
Chr1:46655015
GRCh38:
Chr1:46189343
TSPAN1, POMGNT1P615L, P637L, P494LCongenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3Uncertain significance
(Oct 15, 2020)
criteria provided, single submitterVCV000652677
41.
GRCh37:
Chr1:46655020
GRCh38:
Chr1:46189348
TSPAN1, POMGNT1K492fs, K613fs, A627fs, K635fsMuscle eye brain diseaseLikely pathogenic
(Feb 20, 2018)
criteria provided, single submitterVCV000556807
42.
GRCh37:
Chr1:46655028
GRCh38:
Chr1:46189356
TSPAN1, POMGNT1V633M, S624N, V611M, V490MLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Uncertain significance
(Jul 21, 2020)
criteria provided, single submitterVCV001042568
43.
GRCh37:
Chr1:46655030
GRCh38:
Chr1:46189358
POMGNT1, TSPAN1Muscle eye brain diseaseLikely pathogenicno assertion criteria providedVCV000056595
44.
GRCh37:
Chr1:46655039
GRCh38:
Chr1:46189367
TSPAN1, POMGNT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Likely benign
(Nov 21, 2019)
criteria provided, single submitterVCV001117169
45.
GRCh37:
Chr1:46655048
GRCh38:
Chr1:46189376
POMGNT1, TSPAN1not specifiedBenignno assertion criteria providedVCV001284753
46.
GRCh37:
Chr1:46655100
GRCh38:
Chr1:46189428
POMGNT1, TSPAN1Retinitis pigmentosa 76, not specified, not provided,
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Benign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000257665
47.
GRCh37:
Chr1:46655107-46655108
GRCh38:
Chr1:46189435-46189436
TSPAN1, POMGNT1Muscle eye brain diseaseLikely benign
(Oct 2, 2017)
criteria provided, single submitterVCV000554192
48.
GRCh37:
Chr1:46655122-46655125
GRCh38:
Chr1:46189450-46189453
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria providedVCV000056594
49.
GRCh37:
Chr1:46655129
GRCh38:
Chr1:46189457
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenic
(Mar 2, 2018)
criteria provided, single submitterVCV000557018
50.
GRCh37:
Chr1:46655129
GRCh38:
Chr1:46189457
POMGNT1, TSPAN1Muscle eye brain disease, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3,
not provided, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital Muscular Dystrophy, alpha-dystroglycan related,
POMGNT1-Related Disorders, Limb-Girdle Muscular Dystrophy, Recessive, Retinitis pigmentosa 76,
Inborn genetic diseases
Conflicting interpretations of pathogenicity
(Sep 3, 2021)
criteria provided, conflicting interpretationsVCV000056593
51.
GRCh37:
Chr1:46655129
GRCh38:
Chr1:46189457
POMGNT1, TSPAN1Muscle eye brain disease, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3,
Retinitis pigmentosa 76
Pathogenic
(Sep 13, 2020)
criteria provided, single submitterVCV000056592
52.
GRCh37:
Chr1:46655130
GRCh38:
Chr1:46189458
TSPAN1, POMGNT1S632*, S489*, S610*not providedPathogenic
(Oct 17, 2016)
criteria provided, single submitterVCV000280928
53.
GRCh37:
Chr1:46655136
GRCh38:
Chr1:46189464
POMGNT1, TSPAN1P487R, P608R, P630RMuscle eye brain disease, Congenital Muscular Dystrophy, alpha-dystroglycan related, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000873655
54.
GRCh37:
Chr1:46655145
GRCh38:
Chr1:46189473
POMGNT1, TSPAN1P627L, P484L, P605LCongenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3Uncertain significance
(Sep 19, 2019)
criteria provided, single submitterVCV000471404
55.
GRCh37:
Chr1:46655147
GRCh38:
Chr1:46189475
TSPAN1, POMGNT1Congenital Muscular Dystrophy, alpha-dystroglycan related, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000873656
56.
GRCh37:
Chr1:46655149
GRCh38:
Chr1:46189477
TSPAN1, POMGNT1V483I, V604I, V626IMuscle eye brain disease, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
Uncertain significance
(Jan 31, 2019)
criteria provided, single submitterVCV000643942
57.
GRCh37:
Chr1:46655149
GRCh38:
Chr1:46189477
TSPAN1, POMGNT1V483fs, V626fs, V604fsMuscle eye brain disease, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3Likely pathogenic
(Oct 20, 2014)
criteria provided, single submitterVCV000056591
58.
GRCh37:
Chr1:46655153
GRCh38:
Chr1:46189481
TSPAN1, POMGNT1Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3Likely benign
(Nov 9, 2019)
criteria provided, single submitterVCV001139152
59.
GRCh37:
Chr1:46655158
GRCh38:
Chr1:46189486
TSPAN1, POMGNT1V480L, V623L, V601L, M623LCongenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3Uncertain significance
(Mar 26, 2019)
criteria provided, single submitterVCV000969691
60.
GRCh37:
Chr1:46655158
GRCh38:
Chr1:46189486
POMGNT1, TSPAN1V623M, V601M, V480Mnot provided, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
Benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000471403
61.
GRCh37:
Chr1:46655158
GRCh38:
Chr1:46189486
POMGNT1, TSPAN1Muscle eye brain disease, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3,
not specified
Benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000167524
62.
GRCh37:
Chr1:46655160
GRCh38:
Chr1:46189488
TSPAN1, POMGNT1L622P, L600P, L479PMuscle eye brain diseaseUncertain significance
(Mar 15, 2017)
criteria provided, single submitterVCV000551020
63.
GRCh37:
Chr1:46655161
GRCh38:
Chr1:46189489
TSPAN1, POMGNT1L479fs, L622fs, L600fsMuscle eye brain diseaseLikely pathogenicno assertion criteria providedVCV000056590
64.
GRCh37:
Chr1:46655169-46655171
GRCh38:
Chr1:46189497-46189499
TSPAN1, POMGNT1K618del, K596del, K475delLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Uncertain significance
(Apr 18, 2018)
criteria provided, single submitterVCV000579820
65.
GRCh37:
Chr1:46655170
GRCh38:
Chr1:46189498
TSPAN1, POMGNT1N619Y, N476Y, N597YLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3,
not provided
Uncertain significance
(Dec 18, 2019)
criteria provided, multiple submitters, no conflictsVCV000452605
66.
GRCh37:
Chr1:46655173
GRCh38:
Chr1:46189501
TSPAN1, POMGNT1K618*, K475*, K596*Muscle eye brain diseaseLikely pathogenic
(Jun 19, 2017)
criteria provided, single submitterVCV000552466
67.
GRCh37:
Chr1:46655179
GRCh38:
Chr1:46189507
TSPAN1, POMGNT1R473G, R616G, R594GLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Uncertain significance
(Oct 21, 2019)
criteria provided, single submitterVCV000960656
68.
GRCh37:
Chr1:46655179
GRCh38:
Chr1:46189507
TSPAN1, POMGNT1R473W, R616W, R594WLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Uncertain significance
(Aug 16, 2020)
criteria provided, single submitterVCV000933901
69.
GRCh37:
Chr1:46655181-46655183
GRCh38:
Chr1:46189509-46189511
TSPAN1, POMGNT1L614del, L592del, L471delMuscle eye brain diseaseUncertain significance
(Nov 17, 2017)
criteria provided, single submitterVCV000555139
70.
GRCh37:
Chr1:46655183
GRCh38:
Chr1:46189511
POMGNT1, TSPAN1Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3Likely benign
(Feb 14, 2020)
criteria provided, single submitterVCV001123616
71.
GRCh37:
Chr1:46655186
GRCh38:
Chr1:46189514
POMGNT1, TSPAN1Muscle eye brain diseaseUncertain significance
(Aug 16, 2020)
no assertion criteria providedVCV000989705
72.
GRCh37:
Chr1:46655193
GRCh38:
Chr1:46189521
TSPAN1, POMGNT1L468P, L589P, L611Pnot providedLikely pathogenic
(Oct 23, 2020)
criteria provided, single submitterVCV000987162
73.
GRCh37:
Chr1:46655193
GRCh38:
Chr1:46189521
TSPAN1, POMGNT1L468fs, L611fs, L589fsCongenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3Pathogenic
(Mar 1, 2003)
no assertion criteria providedVCV000003995
74.
GRCh37:
Chr1:46655194
GRCh38:
Chr1:46189522
POMGNT1, TSPAN1not provided, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
Conflicting interpretations of pathogenicity
(Nov 10, 2020)
criteria provided, conflicting interpretationsVCV000167525
75.
GRCh37:
Chr1:46655197
GRCh38:
Chr1:46189525
TSPAN1, POMGNT1G588C, G467C, G610CLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Uncertain significance
(Jul 22, 2019)
criteria provided, single submitterVCV000934922
76.
GRCh37:
Chr1:46655199
GRCh38:
Chr1:46189527
TSPAN1, POMGNT1R587Q, R609Q, R466QMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3Uncertain significance
(Mar 14, 2019)
criteria provided, single submitterVCV001030589
77.
GRCh37:
Chr1:46655200
GRCh38:
Chr1:46189528
TSPAN1, POMGNT1R609W, R466W, R587Wnot provided, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
Uncertain significance
(Nov 8, 2019)
criteria provided, multiple submitters, no conflictsVCV000286266
78.
GRCh37:
Chr1:46655211
GRCh38:
Chr1:46189539
TSPAN1, POMGNT1R583L, R462L, R605LLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Uncertain significance
(Nov 23, 2019)
criteria provided, single submitterVCV000844855
79.
GRCh37:
Chr1:46655211
GRCh38:
Chr1:46189539
TSPAN1, POMGNT1R605H, R583H, R462HMuscle eye brain disease, not providedLikely pathogenic
(Jan 12, 2016)
criteria provided, multiple submitters, no conflictsVCV000056589
80.
GRCh37:
Chr1:46655211
GRCh38:
Chr1:46189539
TSPAN1, POMGNT1R605P, R462P, R583PMuscle eye brain disease, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, not provided,
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
Pathogenic/Likely pathogenic
(Oct 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000003998
81.
GRCh37:
Chr1:46655212
GRCh38:
Chr1:46189540
TSPAN1, POMGNT1R462S, R583S, R605SLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Likely pathogenic
(Oct 18, 2020)
criteria provided, single submitterVCV001067007
82.
GRCh37:
Chr1:46655212
GRCh38:
Chr1:46189540
TSPAN1, POMGNT1R605C, R583C, R462Cnot providedUncertain significance
(Sep 13, 2016)
criteria provided, single submitterVCV000290842
83.
GRCh37:
Chr1:46655216
GRCh38:
Chr1:46189544
TSPAN1, POMGNT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Likely benign
(Sep 30, 2019)
criteria provided, single submitterVCV001115472
84.
GRCh37:
Chr1:46655237
GRCh38:
Chr1:46189565
TSPAN1, POMGNT1Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3Likely benign
(Nov 1, 2020)
criteria provided, single submitterVCV001127264
85.
GRCh37:
Chr1:46655240
GRCh38:
Chr1:46189568
POMGNT1, TSPAN1Muscle eye brain diseaseLikely pathogenic
(Jun 9, 2017)
criteria provided, single submitterVCV000552405
86.
GRCh37:
Chr1:46655241
GRCh38:
Chr1:46189569
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenic
(Oct 10, 2016)
criteria provided, single submitterVCV000371525
87.
GRCh37:
Chr1:46655244
GRCh38:
Chr1:46189572
TSPAN1, POMGNT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Likely benign
(Nov 17, 2020)
criteria provided, single submitterVCV000771648
88.
GRCh37:
Chr1:46655245
GRCh38:
Chr1:46189573
POMGNT1, TSPAN1Muscle eye brain disease, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3,
not specified, not provided
Conflicting interpretations of pathogenicity
(May 20, 2021)
criteria provided, conflicting interpretationsVCV000497582
89.
GRCh37:
Chr1:46655248
GRCh38:
Chr1:46189576
TSPAN1, POMGNT1not providedUncertain significance
(May 25, 2018)
criteria provided, single submitterVCV000597255
90.
GRCh37:
Chr1:46655256
GRCh38:
Chr1:46189584
TSPAN1, POMGNT1not specifiedLikely benign
(May 4, 2017)
criteria provided, single submitterVCV000509422
91.
GRCh37:
Chr1:46655357
GRCh38:
Chr1:46189685
POMGNT1, TSPAN1not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001235825
92.
GRCh37:
Chr1:46655480
GRCh38:
Chr1:46189808
POMGNT1, TSPAN1not specified, not providedLikely benign
(Jun 30, 2018)
criteria provided, multiple submitters, no conflictsVCV000260872
93.
GRCh37:
Chr1:46655486
GRCh38:
Chr1:46189814
POMGNT1, TSPAN1not providedLikely benign
(Aug 12, 2018)
criteria provided, single submitterVCV001206927
94.
GRCh37:
Chr1:46655495
GRCh38:
Chr1:46189823
POMGNT1, TSPAN1not provided, not specifiedBenign/Likely benign
(Jun 28, 2018)
criteria provided, multiple submitters, no conflictsVCV000260871
95.
GRCh37:
Chr1:46655524
GRCh38:
Chr1:46189852
TSPAN1, POMGNT1Muscle eye brain diseaseLikely pathogenicno assertion criteria providedVCV000056588
96.
GRCh37:
Chr1:46655528
GRCh38:
Chr1:46189856
TSPAN1, POMGNT1K595E, K452E, K573ELimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3, not specified
Uncertain significance
(Dec 15, 2019)
criteria provided, multiple submitters, no conflictsVCV000211940
97.
GRCh37:
Chr1:46655531
GRCh38:
Chr1:46189859
TSPAN1, POMGNT1A451S, A572S, A594SLimb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Uncertain significance
(Nov 5, 2019)
criteria provided, single submitterVCV000848867
98.
GRCh37:
Chr1:46655538
GRCh38:
Chr1:46189866
TSPAN1, POMGNT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Likely benign
(Jan 14, 2020)
criteria provided, single submitterVCV001143824
99.
GRCh37:
Chr1:46655542
GRCh38:
Chr1:46189870
TSPAN1, POMGNT1W590*, W568*, W447*Muscle eye brain disease, Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3,
Retinitis pigmentosa 76
Pathogenic/Likely pathogenic
(Oct 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000056587
100.
GRCh37:
Chr1:46655553
GRCh38:
Chr1:46189881
TSPAN1, POMGNT1Limb-girdle muscular dystrophy-dystroglycanopathy, type C3, Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3Likely benign
(Dec 4, 2020)
criteria provided, single submitterVCV000718981
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