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Items: 1 to 100 of 575

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:89949332
GRCh38:
Chr5:90653515
ADGRV1L1314*Usher syndrome type 2CLikely pathogenic
(Sep 6, 2023)
no assertion criteria provided
2.
GRCh37:
Chr5:89981615
GRCh38:
Chr5:90685798
ADGRV1L2098PUsher syndrome type 2CUncertain significance
(Jan 3, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr5:89414155-89415061
GRCh38:
Chr5:90118338-90119244
ADGRV1Usher syndrome type 2CPathogenic
(Feb 28, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr5:89979814-89979815
GRCh38:
Chr5:90683997-90683998
ADGRV1Y2026*Usher syndrome type 2CPathogenic
(Jan 16, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr5:89979172
GRCh38:
Chr5:90683355
ADGRV1Usher syndrome type 2CLikely pathogenic
(Jan 16, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr5:90281269
GRCh38:
Chr5:90985452
ADGRV1L6028Fnot provided, Usher syndrome type 2CUncertain significance
(May 20, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr5:90024522
GRCh38:
Chr5:90728705
ADGRV1Q3400*Usher syndrome type 2CLikely pathogenic
(Nov 10, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr5:89949292
GRCh38:
Chr5:90653475
ADGRV1D1301YUsher syndrome type 2CUncertain significance
(Nov 29, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr5:89939818
GRCh38:
Chr5:90644001
ADGRV1not provided, Febrile seizures, familial, 4, Usher syndrome type 2C
Likely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr5:89914994
GRCh38:
Chr5:90619177
ADGRV1N150SFebrile seizures, familial, 4, Usher syndrome type 2C, not provided
Uncertain significance
(Jan 19, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr5:90079049
GRCh38:
Chr5:90783232
ADGRV1G4447DUsher syndrome type 2C, not providedConflicting interpretations of pathogenicity
(Aug 3, 2023)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr10:102783795
GRCh38:
Chr10:101024038
PDZD7S86LUsher syndrome type 2C, Usher syndrome type 2A, Hearing loss, autosomal recessive 57,
not provided
Uncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr5:90059185
GRCh38:
Chr5:90763368
ADGRV1R4062WUsher syndrome type 2C, Febrile seizures, familial, 4, not provided
Uncertain significance
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr5:89985797
GRCh38:
Chr5:90689980
ADGRV1Q2204*Usher syndrome type 2C, not providedPathogenic/Likely pathogenic
(Nov 10, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr5:89949322
GRCh38:
Chr5:90653505
ADGRV1T1311AFebrile seizures, familial, 4, Usher syndrome type 2C, not provided
Uncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr5:90001301
GRCh38:
Chr5:90705484
ADGRV1G2824Anot provided, Usher syndrome type 2C, Febrile seizures, familial, 4
Uncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr5:89989775
GRCh38:
Chr5:90693958
ADGRV1M2401Tnot provided, Usher syndrome type 2C, Febrile seizures, familial, 4
Conflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr5:89949662
GRCh38:
Chr5:90653845
ADGRV1W1424*Usher syndrome type 2CLikely pathogenic
(Jan 3, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr5:89988500
GRCh38:
Chr5:90692683
ADGRV1A2344Snot provided, Usher syndrome type 2C, Febrile seizures, familial, 4
Uncertain significance
(Jul 28, 2021)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr10:102776164
GRCh38:
Chr10:101016407
PDZD7Q515*Hearing loss, autosomal recessive 57, not provided, Usher syndrome type 2C
Pathogenic/Likely pathogenic
(May 3, 2023)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr5:89918474
GRCh38:
Chr5:90622657
ADGRV1I172FUsher syndrome type 2CUncertain significance
(Jan 25, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr5:90086961
GRCh38:
Chr5:90791144
ADGRV1S4772*Usher syndrome type 2CLikely pathogenic
(Aug 1, 2020)
criteria provided, single submitter
23.
GRCh37:
Chr10:102775350
GRCh38:
Chr10:101015593
PDZD7Hearing loss, autosomal recessive 57, Usher syndrome type 2C, not provided
Benign
(Sep 5, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr5:90087009
GRCh38:
Chr5:90791192
ADGRV1T4788IUsher syndrome type 2CUncertain significance
(May 31, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr5:90074406
GRCh38:
Chr5:90778589
ADGRV1R4277*Usher syndrome type 2CPathogenic
(Jul 15, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr5:90106569
GRCh38:
Chr5:90810752
ADGRV1S5164RUsher syndrome type 2CUncertain significance
(Jul 1, 2021)
no assertion criteria provided
27.
GRCh37:
Chr5:89989828
GRCh38:
Chr5:90694011
ADGRV1P2419SUsher syndrome type 2CUncertain significance
(Jul 1, 2021)
no assertion criteria provided
28.
GRCh37:
Chr5:89985701
GRCh38:
Chr5:90689884
ADGRV1S2172PUsher syndrome type 2CUncertain significance
(Jul 1, 2021)
no assertion criteria provided
29.
GRCh37:
Chr5:89954097
GRCh38:
Chr5:90658280
ADGRV1Usher syndrome type 2CLikely pathogenic
(Jul 1, 2021)
no assertion criteria provided
30.
GRCh37:
Chr5:90006810-90006811
GRCh38:
Chr5:90710993-90710994
ADGRV1T2947fsUsher syndrome type 2CLikely pathogenic
(Jul 1, 2021)
no assertion criteria provided
31.
GRCh37:
Chr5:89990183
GRCh38:
Chr5:90694366
ADGRV1S2537fsUsher syndrome type 2CLikely pathogenic
(Jul 1, 2021)
no assertion criteria provided
32.
GRCh37:
Chr5:90124864
GRCh38:
Chr5:90829047
ADGRV1S5491NUsher syndrome type 2C, Febrile seizures, familial, 4, not provided
Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr5:89938497
GRCh38:
Chr5:90642680
ADGRV1R762HUsher syndrome type 2C, Febrile seizures, familial, 4, not provided,
not specified
Uncertain significance
(Mar 9, 2023)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr5:89979824
GRCh38:
Chr5:90684007
ADGRV1P2029Lnot provided, Usher syndrome type 2C, Febrile seizures, familial, 4
Likely benign
(Oct 16, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr5:90041613
GRCh38:
Chr5:90745796
ADGRV1not provided, Usher syndrome type 2CLikely pathogenic
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr5:90024588
GRCh38:
Chr5:90728771
ADGRV1A3422PUsher syndrome type 2CUncertain significance
(Apr 8, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr5:89989973
GRCh38:
Chr5:90694156
ADGRV1T2467IUsher syndrome type 2C, not providedUncertain significance
(Mar 9, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr5:90070096-90070097
GRCh38:
Chr5:90774279-90774280
ADGRV1E4127fsUsher syndrome type 2CLikely pathogenic
(Apr 8, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr5:90103555
GRCh38:
Chr5:90807738
ADGRV1not provided, Usher syndrome type 2CLikely pathogenic
(Jul 25, 2023)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr5:89986637
GRCh38:
Chr5:90690820
ADGRV1V2244IFebrile seizures, familial, 4, Usher syndrome type 2C, Usher syndrome,
not provided
Uncertain significance
(Jun 8, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr5:90087140
GRCh38:
Chr5:90791323
ADGRV1D4832NUsher syndrome type 2CUncertain significance
(Apr 8, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr5:90050880
GRCh38:
Chr5:90755063
ADGRV1P3820TUsher syndrome type 2CUncertain significance
(Apr 8, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr5:89924449
GRCh38:
Chr5:90628632
ADGRV1R437Wnot provided, Usher syndrome type 2CUncertain significance
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr5:90149942
GRCh38:
Chr5:90854125
ADGRV1Y5840HUsher syndrome type 2C, Febrile seizures, familial, 4, not provided
Conflicting interpretations of pathogenicity
(Sep 14, 2022)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr10:102782087
GRCh38:
Chr10:101022330
PDZD7D200NInborn genetic diseases, not provided, Usher syndrome type 2A,
Hearing loss, autosomal recessive 57, Usher syndrome type 2C
Uncertain significance
(Nov 15, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr5:90041612
GRCh38:
Chr5:90745795
ADGRV1Q3658HUsher syndrome type 2CUncertain significance
(Apr 11, 2019)
criteria provided, single submitter
47.
GRCh37:
Chr10:102770214
GRCh38:
Chr10:101010457
PDZD7R811HUsher syndrome type 2CUncertain significance
(Mar 28, 2019)
criteria provided, single submitter
48.
GRCh37:
Chr5:90079151
GRCh38:
Chr5:90783334
ADGRV1Usher syndrome type 2C, not providedUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr5:89938788
GRCh38:
Chr5:90642971
ADGRV1V828AUsher syndrome type 2C, Febrile seizures, familial, 4, not provided
Conflicting interpretations of pathogenicity
(Mar 2, 2023)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr5:89914907
GRCh38:
Chr5:90619090
ADGRV1P121LUsher syndrome type 2C, Febrile seizures, familial, 4, not provided
Uncertain significance
(Jul 20, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr5:89975443
GRCh38:
Chr5:90679626
ADGRV1R1841Cnot provided, Usher syndrome type 2CUncertain significance
(Aug 17, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr5:90149942
GRCh38:
Chr5:90854125
ADGRV1Y5840fsUsher syndrome type 2CLikely pathogeniccriteria provided, single submitter
53.
GRCh37:
Chr5:89913617
GRCh38:
Chr5:90617800
ADGRV1not provided, Usher syndrome type 2C, Febrile seizures, familial, 4
Likely benign
(Sep 10, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr5:90449123
GRCh38:
Chr5:91153306
ADGRV1T6237MFebrile seizures, familial, 4, Usher syndrome type 2C, not provided,
Inborn genetic diseases
Conflicting interpretations of pathogenicity
(Aug 27, 2022)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr5:89948177
GRCh38:
Chr5:90652360
ADGRV1R1144QInborn genetic diseases, Febrile seizures, familial, 4, Usher syndrome type 2C,
not provided
Conflicting interpretations of pathogenicity
(May 23, 2023)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr5:89979755
GRCh38:
Chr5:90683938
ADGRV1G2006Dnot provided, Usher syndrome type 2CConflicting interpretations of pathogenicity
(Oct 19, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr5:90000227
GRCh38:
Chr5:90704410
ADGRV1F2770Lnot provided, Usher syndrome type 2C, Febrile seizures, familial, 4
Uncertain significance
(Mar 7, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr5:89854646
GRCh38:
Chr5:90558829
ADGRV1Usher syndrome type 2C, not providedLikely benign
(Aug 23, 2018)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr5:90445834
GRCh38:
Chr5:91150017
ADGRV1not provided, Usher syndrome type 2CConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr5:90368251
GRCh38:
Chr5:91072434
ADGRV1not provided, Usher syndrome type 2CConflicting interpretations of pathogenicity
(Oct 11, 2022)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr5:90119382
GRCh38:
Chr5:90823565
ADGRV1C5446Snot provided, Usher syndrome type 2CUncertain significance
(Jun 1, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr5:90119353
GRCh38:
Chr5:90823536
ADGRV1not provided, Usher syndrome type 2CConflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr5:90086966
GRCh38:
Chr5:90791149
ADGRV1L4774FUsher syndrome type 2C, Febrile seizures, familial, 4, Inborn genetic diseases,
not provided, Usher syndrome type 2C
Conflicting interpretations of pathogenicity
(Oct 27, 2022)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr5:90086965
GRCh38:
Chr5:90791148
ADGRV1I4773MUsher syndrome type 2C, not providedConflicting interpretations of pathogenicity
(Sep 13, 2022)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr5:90073730
GRCh38:
Chr5:90777913
ADGRV1R4179QUsher syndrome type 2C, not providedUncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr5:90072345
GRCh38:
Chr5:90776528
ADGRV1I4160Nnot provided, Usher syndrome type 2CUncertain significance
(Aug 7, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr5:90050812
GRCh38:
Chr5:90754995
ADGRV1T3797IUsher syndrome type 2C, not providedUncertain significance
(Sep 27, 2023)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr5:90015851
GRCh38:
Chr5:90720034
ADGRV1Usher syndrome type 2C, not providedConflicting interpretations of pathogenicity
(Aug 22, 2022)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr5:90012413
GRCh38:
Chr5:90716596
ADGRV1R3105Qnot provided, Usher syndrome type 2CUncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr5:90008243
GRCh38:
Chr5:90712426
ADGRV1I3061RUsher syndrome type 2CUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr5:89990466
GRCh38:
Chr5:90694649
ADGRV1Usher syndrome type 2CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr5:89990465
GRCh38:
Chr5:90694648
ADGRV1A2631GUsher syndrome type 2CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr5:89990439
GRCh38:
Chr5:90694622
ADGRV1not provided, Usher syndrome type 2CConflicting interpretations of pathogenicity
(Jul 12, 2022)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr5:89990327
GRCh38:
Chr5:90694510
ADGRV1I2585Tnot provided, Usher syndrome type 2C, Inborn genetic diseases
Uncertain significance
(Feb 23, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr5:89986679
GRCh38:
Chr5:90690862
ADGRV1I2258VUsher syndrome type 2CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr5:89985892
GRCh38:
Chr5:90690075
ADGRV1F2235LUsher syndrome type 2C, Febrile seizures, familial, 4, Inborn genetic diseases,
Usher syndrome type 2C
Uncertain significance
(Apr 8, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr5:89985786
GRCh38:
Chr5:90689969
ADGRV1S2200CUsher syndrome type 2CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr5:89985713
GRCh38:
Chr5:90689896
ADGRV1L2176MUsher syndrome type 2CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr5:89985668
GRCh38:
Chr5:90689851
ADGRV1Usher syndrome type 2CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr5:89979477
GRCh38:
Chr5:90683660
ADGRV1Usher syndrome type 2C, not providedConflicting interpretations of pathogenicity
(Feb 2, 2020)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr5:89979412
GRCh38:
Chr5:90683595
ADGRV1H1892YUsher syndrome type 2CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr5:89979403
GRCh38:
Chr5:90683586
ADGRV1V1889Inot provided, Usher syndrome type 2CUncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr5:89977264
GRCh38:
Chr5:90681447
ADGRV1T1886Rnot provided, Usher syndrome type 2CConflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr5:89975444
GRCh38:
Chr5:90679627
ADGRV1R1841Hnot provided, Usher syndrome type 2CUncertain significance
(Oct 13, 2021)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr5:89949562
GRCh38:
Chr5:90653745
ADGRV1E1391Knot provided, Usher syndrome type 2C, not specified
Conflicting interpretations of pathogenicity
(May 16, 2022)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr5:89949509
GRCh38:
Chr5:90653692
ADGRV1A1373Vnot provided, Usher syndrome type 2CUncertain significance
(Jan 27, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr5:89949387
GRCh38:
Chr5:90653570
ADGRV1not provided, Usher syndrome type 2CConflicting interpretations of pathogenicity
(Feb 9, 2022)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr5:89949384
GRCh38:
Chr5:90653567
ADGRV1Usher syndrome type 2C, not providedConflicting interpretations of pathogenicity
(Jan 1, 2023)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr5:89943421
GRCh38:
Chr5:90647604
ADGRV1Usher syndrome type 2CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr5:89941917
GRCh38:
Chr5:90646100
ADGRV1Usher syndrome type 2CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr5:89941812
GRCh38:
Chr5:90645995
ADGRV1V976Inot provided, Usher syndrome type 2CUncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr5:89940621
GRCh38:
Chr5:90644804
ADGRV1G945WUsher syndrome type 2CUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr5:89940557
GRCh38:
Chr5:90644740
ADGRV1Usher syndrome type 2CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr5:89939732
GRCh38:
Chr5:90643915
ADGRV1I889Tnot provided, Usher syndrome type 2CConflicting interpretations of pathogenicity
(Sep 29, 2022)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr5:89925195
GRCh38:
Chr5:90629378
ADGRV1I560VUsher syndrome type 2CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr5:89925095
GRCh38:
Chr5:90629278
ADGRV1Q526Hnot provided, Usher syndrome type 2CUncertain significance
(Jun 23, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr5:89924559
GRCh38:
Chr5:90628742
ADGRV1D473Enot provided, Usher syndrome type 2CConflicting interpretations of pathogenicity
(Sep 26, 2022)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr5:89924507
GRCh38:
Chr5:90628690
ADGRV1L456PUsher syndrome type 2CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr5:90459987
GRCh38:
Chr5:91164170
ADGRV1Usher syndrome type 2CUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr5:90459976
GRCh38:
Chr5:91164159
ADGRV1not provided, Usher syndrome type 2CConflicting interpretations of pathogenicity
(Jul 12, 2020)
criteria provided, conflicting interpretations
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