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Links from MedGen

Items: 1 to 100 of 104

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:150645752
GRCh38:
Chr3:150927965
CLRN1T224A, T237Anot providedUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr3:150690438
GRCh38:
Chr3:150972651
CLRN1C20Rnot providedUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr3:150690456
GRCh38:
Chr3:150972669
CLRN1G14Rnot providedUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr3:150659402
GRCh38:
Chr3:150941615
CLRN1P134S, P58Snot providedUncertain significance
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr3:150659550
GRCh38:
Chr3:150941763
CLRN1Usher syndrome type 3Pathogenic
(Dec 10, 2019)
no assertion criteria provided
6.
GRCh37:
Chr3:150645425
GRCh38:
Chr3:150927638
CLRN1Usher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr3:150690724
GRCh38:
Chr3:150972937
CLRN1, CLRN1-AS1Usher syndrome type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr3:150690681
GRCh38:
Chr3:150972894
CLRN1, CLRN1-AS1Usher syndrome type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr3:150690636
GRCh38:
Chr3:150972849
CLRN1, CLRN1-AS1Usher syndrome type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr3:150690586
GRCh38:
Chr3:150972799
CLRN1, CLRN1-AS1Usher syndrome type 3Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr3:150645186
GRCh38:
Chr3:150927399
CLRN1Usher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr3:150645131
GRCh38:
Chr3:150927344
CLRN1Usher syndrome type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr3:150644908
GRCh38:
Chr3:150927121
CLRN1Usher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr3:150644888
GRCh38:
Chr3:150927101
CLRN1Usher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr3:150644696
GRCh38:
Chr3:150926909
CLRN1Usher syndrome type 3, not providedLikely benign
(Jul 12, 2019)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr3:150690311
GRCh38:
Chr3:150972524
CLRN1Q62RUsher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr3:150659391
GRCh38:
Chr3:150941604
CLRN1Usher syndrome type 3, not providedConflicting interpretations of pathogenicity
(Jan 11, 2022)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr3:150645991
GRCh38:
Chr3:150928204
CLRN1Usher syndrome type 3Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr3:150644691
GRCh38:
Chr3:150926904
CLRN1Usher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr3:150644542
GRCh38:
Chr3:150926755
CLRN1Usher syndrome type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr3:150644532
GRCh38:
Chr3:150926745
CLRN1not provided, Usher syndrome type 3Likely benign
(Sep 25, 2019)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr3:150644461
GRCh38:
Chr3:150926674
CLRN1Usher syndrome type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr3:150645920
GRCh38:
Chr3:150928133
CLRN1I181F, I168F, I92FUsher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr3:150645714
GRCh38:
Chr3:150927927
CLRN1Usher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr3:150645630
GRCh38:
Chr3:150927843
CLRN1Usher syndrome type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr3:150645474
GRCh38:
Chr3:150927687
CLRN1Usher syndrome type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr3:150645985
GRCh38:
Chr3:150928198
CLRN1S159F, S70F, S146Fnot providedUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr3:150690430
GRCh38:
Chr3:150972643
CLRN1not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr3:150659444-150659453
GRCh38:
Chr3:150941657-150941666
CLRN1A117fs, A41fs, S174fsUsher syndrome type 3Pathogenic
(Jun 23, 2019)
no assertion criteria provided
30.
GRCh37:
Chr3:150645985
GRCh38:
Chr3:150928198
CLRN1S146Y, S159Y, S70YUsher syndrome type 3Likely pathogenic
(Jun 23, 2019)
no assertion criteria provided
31.
GRCh37:
Chr3:150690431
GRCh38:
Chr3:150972644
CLRN1L22HUsher syndrome type 3Pathogenic
(Feb 1, 2019)
criteria provided, single submitter
32.
GRCh37:
Chr3:150690368
GRCh38:
Chr3:150972581
CLRN1G43VUsher syndrome type 3, not providedPathogenic/Likely pathogenic
(Sep 8, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr3:150645882
GRCh38:
Chr3:150928095
CLRN1not providedLikely benign
(Oct 5, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr3:150690476
GRCh38:
Chr3:150972689
CLRN1, CLRN1-AS1K7Inot provided, Usher syndrome type 3Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr3:150659368
GRCh38:
Chr3:150941581
CLRN1Usher syndrome type 3, not providedPathogenic
(Sep 10, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr3:150659479
GRCh38:
Chr3:150941692
CLRN1L108P, L32PUsher syndrome type 3Pathogenic
(Mar 15, 2019)
criteria provided, single submitter
37.
GRCh37:
Chr3:150690453
GRCh38:
Chr3:150972666
CLRN1V15Mnot providedUncertain significance
(Jan 18, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr3:150690287
GRCh38:
Chr3:150972500
CLRN1G70DUsher syndrome type 3Uncertain significance
(Mar 22, 2018)
no assertion criteria provided
39.
GRCh37:
Chr3:150690456
GRCh38:
Chr3:150972669
CLRN1G14*Usher syndrome type 3Likely pathogenic
(May 8, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr3:150659430
GRCh38:
Chr3:150941643
CLRN1F48fs, W182fs, F124fsUsher syndrome type 3Likely pathogenic
(Mar 2, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr3:150690312
GRCh38:
Chr3:150972525
CLRN1Q62*Usher syndrome type 3Likely pathogenic
(Mar 1, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr3:150658267
GRCh38:
Chr3:150940480
CLRN1Usher syndrome type 3Uncertain significance
(Feb 5, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr3:150659511
GRCh38:
Chr3:150941724
CLRN1P155Snot provided, Usher syndrome type 3Conflicting interpretations of pathogenicity
(Jan 13, 2020)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr3:150659395
GRCh38:
Chr3:150941608
CLRN1G136E, G60EUsher syndrome type 3A, not providedUncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr3:150645964-150645966
GRCh38:
Chr3:150928177-150928179
CLRN1M76del, M165del, M152delUsher syndrome type 3Uncertain significance
(Jan 3, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr3:150690342-150690345
GRCh38:
Chr3:150972555-150972558
CLRN1G51fsUsher syndrome type 3Likely pathogenic
(Dec 21, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr3:150661630
GRCh38:
Chr3:150943843
CLRN1M1R, H134QUsher syndrome type 3Likely benign
(Dec 27, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr3:150661629
GRCh38:
Chr3:150943842
CLRN1M1I, A135TUsher syndrome type 3Uncertain significance
(Dec 4, 2017)
criteria provided, single submitter
49.
GRCh37:
Chr3:150690494
GRCh38:
Chr3:150972707
CLRN1, CLRN1-AS1M1TUsher syndrome type 3, Hearing impairmentLikely pathogenic
(Apr 12, 2021)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr3:150661733-150661734
GRCh38:
Chr3:150943946-150943947
CLRN1H100fsUsher syndrome type 3Uncertain significance
(Nov 10, 2017)
criteria provided, single submitter
51.
GRCh37:
Chr3:150661663
GRCh38:
Chr3:150943876
CLRN1G124fsUsher syndrome type 3Uncertain significance
(Sep 27, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr3:150661605
GRCh38:
Chr3:150943818
CLRN1Usher syndrome type 3Likely benign
(Aug 22, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr3:150661659
GRCh38:
Chr3:150943872
CLRN1C125fsUsher syndrome type 3Likely benign
(Aug 2, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr3:150690493
GRCh38:
Chr3:150972706
CLRN1, CLRN1-AS1M1IUsher syndrome type 3Likely pathogenic
(Jul 17, 2017)
criteria provided, single submitter
55.
GRCh37:
Chr3:150659466
GRCh38:
Chr3:150941679
CLRN1H170Dnot provided, Usher syndrome type 3Likely benign
(Apr 12, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr3:150658272-150658273
GRCh38:
Chr3:150940485-150940486
CLRN1Q157fsUsher syndrome type 3Uncertain significance
(Jul 7, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr3:150661680
GRCh38:
Chr3:150943893
CLRN1R118*Usher syndrome type 3Likely benign
(Jun 13, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr3:150645881
GRCh38:
Chr3:150928094
CLRN1Q194*, Q181*, Q105*Usher syndrome type 3Likely pathogenic
(May 24, 2017)
criteria provided, single submitter
59.
GRCh37:
Chr3:150661634-150661647
GRCh38:
Chr3:150943847-150943860
CLRN1V129fsUsher syndrome type 3Uncertain significance
(Feb 17, 2017)
criteria provided, single submitter
60.
GRCh37:
Chr3:150690278
GRCh38:
Chr3:150972491
CLRN1Q73RUsher syndrome type 3, not specified, not provided,
Retinitis pigmentosa, Retinitis pigmentosa 61, Usher syndrome type 3A
Uncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr3:150690313
GRCh38:
Chr3:150972526
CLRN1M61IUsher syndrome type 3A, Inborn genetic diseases, not provided,
Usher syndrome type 3
Uncertain significance
(Feb 22, 2023)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr5:140056310
GRCh38:
Chr5:140676725
HARS1R375C, R346C, R335C, R355C, R261C, R301C, R315CInborn genetic diseases, Usher syndrome type 3B, not provided
Uncertain significance
(Jan 20, 2023)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr3:150645803
GRCh38:
Chr3:150928016
CLRN1R207*, R220*not provided, Usher syndrome type 3A, Retinitis pigmentosa 61,
Retinitis pigmentosa, Usher syndrome type 3
Pathogenic
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr3:150690483
GRCh38:
Chr3:150972696
CLRN1, CLRN1-AS1Q5*not provided, Usher syndrome type 3Pathogenic/Likely pathogenic
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr3:150659366-150659367
GRCh38:
Chr3:150941579-150941580
CLRN1Usher syndrome type 3Likely pathogenic
(Mar 22, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr3:150690784
GRCh38:
Chr3:150972997
CLRN1, CLRN1-AS1not provided, Usher syndrome type 3Conflicting interpretations of pathogenicity
(Dec 22, 2018)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr3:150690769
GRCh38:
Chr3:150972982
CLRN1, CLRN1-AS1Usher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr3:150690577
GRCh38:
Chr3:150972790
CLRN1, CLRN1-AS1Usher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr3:150690566
GRCh38:
Chr3:150972779
CLRN1, CLRN1-AS1not provided, Usher syndrome type 3Benign
(Jun 22, 2018)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr3:150645949
GRCh38:
Chr3:150928162
CLRN1E158G, E171G, E82Gnot provided, Usher syndrome type 3Uncertain significance
(Apr 1, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr3:150645633
GRCh38:
Chr3:150927846
CLRN1Usher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr3:150645608
GRCh38:
Chr3:150927821
CLRN1Usher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr3:150645448
GRCh38:
Chr3:150927661
CLRN1Usher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr3:150645446
GRCh38:
Chr3:150927659
CLRN1not provided, Usher syndrome type 3Likely benign
(Aug 6, 2019)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr3:150645416
GRCh38:
Chr3:150927629
CLRN1Usher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr3:150645408
GRCh38:
Chr3:150927621
CLRN1not provided, Usher syndrome type 3Benign
(Aug 10, 2019)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr3:150645351
GRCh38:
Chr3:150927564
CLRN1Usher syndrome type 3Benign
(Jan 12, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr3:150645298
GRCh38:
Chr3:150927511
CLRN1Usher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr3:150644867
GRCh38:
Chr3:150927080
CLRN1Usher syndrome type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr3:150644839
GRCh38:
Chr3:150927052
CLRN1not provided, Usher syndrome type 3Benign
(Jun 14, 2018)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr3:150644759
GRCh38:
Chr3:150926972
CLRN1not provided, Usher syndrome type 3Benign
(Dec 18, 2018)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr3:150644685
GRCh38:
Chr3:150926898
CLRN1Usher syndrome type 3, not provided, Usher syndrome type 3A
Conflicting interpretations of pathogenicity
(Jan 1, 2023)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr3:150644684
GRCh38:
Chr3:150926897
CLRN1not provided, Usher syndrome type 3Conflicting interpretations of pathogenicity
(Jul 28, 2020)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr3:150644558
GRCh38:
Chr3:150926771
CLRN1Usher syndrome type 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr3:150644393
GRCh38:
Chr3:150926606
CLRN1Usher syndrome type 3Likely benign
(Jan 12, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr3:150644392
GRCh38:
Chr3:150926605
CLRN1Usher syndrome type 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr3:150658308
GRCh38:
Chr3:150940521
CLRN1Retinitis pigmentosa, not provided, not specified,
Usher syndrome type 3, Hearing impairment
Uncertain significance
(Apr 12, 2021)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr3:150690270
GRCh38:
Chr3:150972483
CLRN1not specified, not providedConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr3:150645919-150645920
GRCh38:
Chr3:150928132-150928133
CLRN1I92fs, I168fs, I181fsCLRN1-related condition, Usher syndrome, Retinal dystrophy,
not provided, Retinitis pigmentosa 61, Usher syndrome type 3,
Retinitis pigmentosa 61, Retinitis pigmentosa, Usher syndrome type 3A
Pathogenic/Likely pathogenic
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr3:150690344-150690347
GRCh38:
Chr3:150972557-150972560
CLRN1S50fsnot provided, Rare genetic deafness, Retinal dystrophy,
Usher syndrome type 3, Retinitis pigmentosa, Retinitis pigmentosa 61,
Usher syndrome type 3A
Pathogenic/Likely pathogenic
(May 17, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr3:150645762
GRCh38:
Chr3:150927975
CLRN1not specified, not provided, Usher syndrome type 3
Conflicting interpretations of pathogenicity
(Oct 30, 2022)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr3:150690490
GRCh38:
Chr3:150972703
CLRN1, CLRN1-AS1not provided, Usher syndrome type 3, not specified
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr3:150690439
GRCh38:
Chr3:150972652
CLRN1Usher syndrome type 3A, not provided, not specified,
Usher syndrome type 3
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr3:150659434
GRCh38:
Chr3:150941647
CLRN1A123D, A47D, C180*Usher syndrome type 3A, Rare genetic deafness, Usher syndrome,
not provided, Usher syndrome type 3
Pathogenic/Likely pathogenic
(Sep 8, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr3:150659497-150659501
GRCh38:
Chr3:150941710-150941714
CLRN1C158fs, V25fs, V101fsRare genetic deafness, not provided, Usher syndrome type 3
Pathogenic/Likely pathogenic
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr3:150690354
GRCh38:
Chr3:150972567
CLRN1N48Dnot specified, Retinal dystrophy, not provided
Conflicting interpretations of pathogenicity
(Jun 27, 2022)
criteria provided, conflicting interpretations
97.
GRCh37:
Chr3:150690378
GRCh38:
Chr3:150972591
CLRN1C40GUsher syndrome, Retinal dystrophy, not provided,
Usher syndrome type 3
Conflicting interpretations of pathogenicity
(Dec 7, 2022)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr3:150690286-150690308
GRCh38:
Chr3:150972499-150972521
CLRN1Y63fsUsher syndrome type 3Pathogenic
(Jun 1, 2002)
no assertion criteria provided
99.
GRCh37:
Chr3:150690307
GRCh38:
Chr3:150972520
CLRN1Y63*CLRN1-related condition, Usher syndrome type 3A, Rare genetic deafness,
not provided, Usher syndrome type 3
Pathogenic
(Jun 21, 2023)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr3:150645973
GRCh38:
Chr3:150928186
CLRN1L150P, L163P, L74PUsher syndrome type 3Pathogenic
(Sep 1, 2002)
no assertion criteria provided
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