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Links from MedGen

Items: 1 to 100 of 706

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr10:73571115
GRCh38:
Chr10:71811358
CDH23L3041V, L801VUsher syndrome type 1DLikely pathogenic
(Jan 1, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr10:73464798
GRCh38:
Chr10:71705041
CDH23R955Lnot provided, Usher syndrome type 1DUncertain significance
(Nov 21, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr10:73571313-73571314
GRCh38:
Chr10:71811556-71811557
CDH23F3083fs, F843fsnot provided, Usher syndrome type 1DPathogenic
(Jan 13, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr10:55973720-55973721
GRCh38:
Chr10:54213960-54213961
PCDH15H321fs, H336fs, H358fs, H363fsUsher syndrome type 1DLikely pathogenic
(Jan 2, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr10:56077168-56077169
GRCh38:
Chr10:54317408-54317409
PCDH15T210fs, T225fs, T247fs, T252fsUsher syndrome type 1DLikely pathogenic
(Jan 2, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr10:55616953
GRCh38:
Chr10:53857193
PCDH15K1192fs, K1226fs, K1241fs, K1263fs, K1268fs, K1270fs, K1275fsUsher syndrome type 1DLikely pathogenic
(Jan 2, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr10:55626519
GRCh38:
Chr10:53866759
PCDH15Y1129*, Y1163*, Y1178*, Y1200*, Y1205*, Y1207*, Y1212*Usher syndrome type 1DLikely pathogenic
(Dec 31, 2021)		criteria provided, single submitter
8.
GRCh37:
Chr10:55663041-55663042
GRCh38:
Chr10:53903281-53903282
PCDH15E1084fs, E1118fs, E1133fs, E1155fs, E1160fs, E1162fs, E1167fsUsher syndrome type 1DLikely pathogenic
(Dec 30, 2021)		criteria provided, single submitter
9.
GRCh37:
Chr10:55955643
GRCh38:
Chr10:54195883
PCDH15Q332*, Q347*, Q369*, Q374*Usher syndrome type 1DLikely pathogenic
(Dec 16, 2021)		criteria provided, single submitter
10.
GRCh37:
Chr10:55945018
GRCh38:
Chr10:54185258
PCDH15P402fs, P417fs, P439fs, P444fs, P446fs, P451fsUsher syndrome type 1DLikely pathogenic
(Dec 27, 2021)		criteria provided, single submitter
11.
GRCh37:
Chr10:55755455
GRCh38:
Chr10:53995695
PCDH15K870fs, K904fs, K919fs, K941fs, K946fs, K948fs, K953fsUsher syndrome type 1DLikely pathogenic
(Dec 22, 2021)		criteria provided, single submitter
12.
GRCh37:
Chr10:55826639-55826640
GRCh38:
Chr10:54066879-54066880
PCDH15T629fs, T663fs, T678fs, T700fs, T705fs, T707fs, T712fsUsher syndrome type 1DLikely pathogenic
(Dec 17, 2021)		criteria provided, single submitter
13.
GRCh37:
Chr10:56077095-56077096
GRCh38:
Chr10:54317335-54317336
PCDH15V234fs, V249fs, V271fs, V276fsUsher syndrome type 1DLikely pathogenic
(Dec 17, 2021)		criteria provided, single submitter
14.
GRCh37:
Chr10:55700705-55700706
GRCh38:
Chr10:53940945-53940946
PCDH15K1014fs, K1029fs, K1051fs, K1056fs, K1058fs, K1063fs, K980fsUsher syndrome type 1DLikely pathogenic
(Dec 17, 2021)		criteria provided, single submitter
15.
GRCh37:
Chr10:55945011-55945012
GRCh38:
Chr10:54185251-54185252
PCDH15H405fs, H420fs, H442fs, H447fs, H449fs, H454fsUsher syndrome type 1DLikely pathogenic
(Dec 16, 2021)		criteria provided, single submitter
16.
GRCh37:
Chr10:55721568-55721569
GRCh38:
Chr10:53961808-53961809
PCDH15S914fs, S948fs, S963fs, S985fs, S990fs, S992fs, S997fsUsher syndrome type 1DLikely pathogenic
(Dec 16, 2021)		criteria provided, single submitter
17.
GRCh37:
Chr10:55700713-55700714
GRCh38:
Chr10:53940953-53940954
PCDH15A1012fs, A1027fs, A1049fs, A1054fs, A1056fs, A1061fs, A978fsUsher syndrome type 1DLikely pathogenic
(Dec 15, 2021)		criteria provided, single submitter
18.
GRCh37:
Chr10:56077068-56077069
GRCh38:
Chr10:54317308-54317309
PCDH15L243fs, L258fs, L280fs, L285fsUsher syndrome type 1DLikely pathogenic
(Dec 10, 2021)		criteria provided, single submitter
19.
GRCh37:
Chr10:55943278-55943279
GRCh38:
Chr10:54183518-54183519
PCDH15T469fs, T484fs, T506fs, T511fs, T513fs, T518fsUsher syndrome type 1DLikely pathogenic
(May 26, 2022)		criteria provided, single submitter
20.
GRCh37:
Chr10:56138609
GRCh38:
Chr10:54378849
PCDH15W62*, W84*, W89*not provided, Usher syndrome type 1DPathogenic/Likely pathogenic
(Aug 29, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr10:56423960-56423963
GRCh38:
Chr10:54664200-54664203
PCDH15F21fsUsher syndrome type 1DLikely pathogenic
(Dec 7, 2021)		criteria provided, single submitter
22.
GRCh37:
Chr10:55955517
GRCh38:
Chr10:54195757
PCDH15G374*, G389*, G411*, G416*Usher syndrome type 1DLikely pathogenic
(Jan 8, 2022)		criteria provided, single submitter
23.
GRCh37:
Chr10:55944911
GRCh38:
Chr10:54185151
PCDH15Q438*, Q453*, Q475*, Q480*, Q482*, Q487*Usher syndrome type 1DLikely pathogenic
(Mar 31, 2022)		criteria provided, single submitter
24.
GRCh37:
Chr10:55782659-55782660
GRCh38:
Chr10:54022899-54022900
PCDH15Q769fs, Q803fs, Q818fs, Q840fs, Q845fs, Q847fs, Q852fsUsher syndrome type 1DLikely pathogenic
(Mar 31, 2022)		criteria provided, single submitter
25.
GRCh37:
Chr10:56128999
GRCh38:
Chr10:54369239
PCDH15Q119fs, Q124fs, Q97fsUsher syndrome type 1DLikely pathogenic
(Mar 30, 2022)		criteria provided, single submitter
26.
GRCh37:
Chr10:55826526-55826529
GRCh38:
Chr10:54066766-54066769
PCDH15G666fs, G700fs, G715fs, G737fs, G742fs, G744fs, G749fsUsher syndrome type 1DLikely pathogenic
(Mar 30, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr10:55943298-55943299
GRCh38:
Chr10:54183538-54183539
PCDH15V462fs, V477fs, V499fs, V504fs, V506fs, V511fsUsher syndrome type 1DLikely pathogenic
(Mar 21, 2022)		criteria provided, single submitter
28.
GRCh37:
Chr10:55826549-55826561
GRCh38:
Chr10:54066789-54066801
PCDH15S655fs, S689fs, S704fs, S726fs, S731fs, S733fs, S738fsUsher syndrome type 1DLikely pathogenic
(Mar 15, 2022)		criteria provided, single submitter
29.
GRCh37:
Chr10:55826618-55826619
GRCh38:
Chr10:54066858-54066859
PCDH15V636fs, V670fs, V685fs, V707fs, V712fs, V714fs, V719fsUsher syndrome type 1DLikely pathogenic
(Mar 15, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr10:55591242-55591243
GRCh38:
Chr10:53831482-53831483
PCDH15Y1274fs, Y1308fs, Y1323fs, Y1345fs, Y1350fs, Y1352fs, Y1357fsUsher syndrome type 1DLikely pathogenic
(Mar 15, 2022)		criteria provided, single submitter
31.
GRCh37:
Chr10:55955645-55955646
GRCh38:
Chr10:54195885-54195886
PCDH15E331fs, E346fs, E368fs, E373fsUsher syndrome type 1DLikely pathogenic
(Mar 4, 2022)		criteria provided, single submitter
32.
GRCh37:
Chr10:55626506
GRCh38:
Chr10:53866746
PCDH15K1134*, K1168*, K1183*, K1205*, K1210*, K1212*, K1217*Usher syndrome type 1DLikely pathogenic
(Mar 2, 2022)		criteria provided, single submitter
33.
GRCh37:
Chr10:55721622-55721623
GRCh38:
Chr10:53961862-53961863
PCDH15R895fs, R929fs, R944fs, R966fs, R971fs, R973fs, R978fsUsher syndrome type 1DLikely pathogenic
(Mar 2, 2022)		criteria provided, single submitter
34.
GRCh37:
Chr10:55719502
GRCh38:
Chr10:53959742
PCDH15E1001*, E1016*, E1038*, E1043*, E1045*, E1050*, E967*Usher syndrome type 1DLikely pathogenic
(Feb 28, 2022)		criteria provided, single submitter
35.
GRCh37:
Chr10:55663016
GRCh38:
Chr10:53903256
PCDH15V1092fs, V1126fs, V1141fs, V1163fs, V1168fs, V1170fs, V1175fsUsher syndrome type 1DLikely pathogenic
(Nov 15, 2021)		criteria provided, single submitter
36.
GRCh37:
Chr10:55700653-55700654
GRCh38:
Chr10:53940893-53940894
PCDH15Y1032fs, Y1047fs, Y1069fs, Y1074fs, Y1076fs, Y1081fs, Y998fsUsher syndrome type 1DLikely pathogenic
(Feb 19, 2022)		criteria provided, single submitter
37.
GRCh37:
Chr10:55943339-55943340
GRCh38:
Chr10:54183579-54183580
PCDH15D448fs, D463fs, D485fs, D490fs, D492fs, D497fsUsher syndrome type 1DLikely pathogenic
(Nov 12, 2021)		criteria provided, single submitter
38.
GRCh37:
Chr10:55600156
GRCh38:
Chr10:53840396
PCDH15Y1232fs, Y1266fs, Y1281fs, Y1303fs, Y1308fs, Y1310fs, Y1315fsUsher syndrome type 1DLikely pathogenic
(Feb 12, 2022)		criteria provided, single submitter
39.
GRCh37:
Chr10:55826532
GRCh38:
Chr10:54066772
PCDH15F664fs, F698fs, F713fs, F735fs, F740fs, F742fs, F747fsUsher syndrome type 1DLikely pathogenic
(Jan 31, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr10:55600152-55600153
GRCh38:
Chr10:53840392-53840393
PCDH15T1233fs, T1267fs, T1282fs, T1304fs, T1309fs, T1311fs, T1316fsUsher syndrome type 1DLikely pathogenic
(Jan 27, 2022)		criteria provided, single submitter
41.
GRCh37:
Chr10:55591177-55591178
GRCh38:
Chr10:53831417-53831418
PCDH15G1296fs, G1330fs, G1345fs, G1367fs, G1372fs, G1374fs, G1379fsUsher syndrome type 1DLikely pathogenic
(Jan 27, 2022)		criteria provided, single submitter
42.
GRCh37:
Chr10:55616996
GRCh38:
Chr10:53857236
PCDH15Q1178*, Q1212*, Q1227*, Q1249*, Q1254*, Q1256*, Q1261*Usher syndrome type 1DLikely pathogenic
(Jan 24, 2022)		criteria provided, single submitter
43.
GRCh37:
Chr10:55591262
GRCh38:
Chr10:53831502
PCDH15K1268*, K1302*, K1317*, K1339*, K1344*, K1346*, K1351*Usher syndrome type 1DLikely pathogenic
(Jan 15, 2022)		criteria provided, single submitter
44.
GRCh37:
Chr10:73567063-73567064
GRCh38:
Chr10:71807306-71807307
CDH23V2737fs, V497fsUsher syndrome type 1DLikely pathogenic
(Dec 10, 2021)		criteria provided, single submitter
45.
GRCh37:
Chr10:73544043
GRCh38:
Chr10:71784286
CDH23Usher syndrome type 1D, Usher syndrome type 1Likely pathogenic
(Jul 22, 2022)		criteria provided, single submitter
46.
GRCh37:
Chr10:73468969
GRCh38:
Chr10:71709212
CDH23Usher syndrome type 1D, Usher syndrome type 1Likely pathogenic
(Jul 22, 2022)		criteria provided, single submitter
47.
GRCh37:
Chr10:73485128
GRCh38:
Chr10:71725371
C10orf105, CDH23Usher syndrome type 1DLikely pathogenic
(May 22, 2022)		criteria provided, single submitter
48.
GRCh37:
Chr10:55943354
GRCh38:
Chr10:54183594
PCDH15Usher syndrome type 1DPathogenic
(May 4, 2022)		criteria provided, single submitter
49.
GRCh37:
Chr10:73544729
GRCh38:
Chr10:71784972
CDH23E1862KUsher syndrome type 1DLikely pathogenic
(May 4, 2022)		criteria provided, single submitter
50.
GRCh37:
Chr10:73511484
GRCh38:
Chr10:71751727
CDH23, VSIRS280LPituitary adenoma 5, multiple types, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D,
not provided, not specified		Benign/Likely benign
(Oct 1, 2023)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr10:73464797
GRCh38:
Chr10:71705040
CDH23R955CAutosomal recessive nonsyndromic hearing loss 12, Pituitary adenoma 5, multiple types, Usher syndrome type 1D,
not provided, Inborn genetic diseases		Uncertain significance
(Mar 31, 2023)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr10:73571169
GRCh38:
Chr10:71811412
CDH23P3059T, P819Tnot provided, Pituitary adenoma 5, multiple types, Autosomal recessive nonsyndromic hearing loss 12,
Usher syndrome type 1D		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr10:73464776
GRCh38:
Chr10:71705019
CDH23V948FPituitary adenoma 5, multiple types, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D,
Inborn genetic diseases, not provided		Uncertain significance
(Jun 22, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr10:55944935
GRCh38:
Chr10:54185175
PCDH15Q467*, Q430*, Q479*, Q445*, Q472*, Q474*Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23,
not provided		Pathogenic/Likely pathogenic
(Nov 9, 2021)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr10:73406342
GRCh38:
Chr10:71646585
CDH23V473Inot provided, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D,
Pituitary adenoma 5, multiple types		Uncertain significance
(Jul 28, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr10:73550919
GRCh38:
Chr10:71791162
CDH23I2027TAutosomal recessive nonsyndromic hearing loss 12, Pituitary adenoma 5, multiple types, Usher syndrome type 1D,
not provided		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr10:73565632
GRCh38:
Chr10:71805875
CDH23, LOC111982869V2648M, V408MPituitary adenoma 5, multiple types, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12,
not provided		Uncertain significance
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr10:73472497
GRCh38:
Chr10:71712740
C10orf105, CDH23R1099QUsher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12, Pituitary adenoma 5, multiple types,
not provided		Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr10:73553008
GRCh38:
Chr10:71793251
CDH23I2108TAutosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D, Pituitary adenoma 5, multiple types,
not provided		Uncertain significance
(Jun 5, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr10:73490239
GRCh38:
Chr10:71730482
C10orf105, CDH23V1198Anot provided, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D,
Pituitary adenoma 5, multiple types		Uncertain significance
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr10:55587274
GRCh38:
Chr10:53827514
PCDH15Q1391K, Q1394K, Q1413K, Q1345K, Q1416K, Q1428K, Q1376K, Q1421K, Q1423KUsher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23,
not provided, Usher syndrome type 1F		Uncertain significance
(Jan 24, 2023)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr10:73548728
GRCh38:
Chr10:71788971
CDH23D1951Vnot provided, Autosomal recessive nonsyndromic hearing loss 12, Pituitary adenoma 5, multiple types,
Usher syndrome type 1D		Uncertain significance
(Sep 24, 2021)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr10:73405587-73405620
GRCh38:
Chr10:71645830-71645863
CDH23Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12, Pituitary adenoma 5, multiple types,
not provided		Pathogenic/Likely pathogenic
(Oct 21, 2021)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr10:55582107-55582112
GRCh38:
Chr10:53822347-53822352
PCDH15not provided, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D,
Usher syndrome type 1F		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr10:73552938-73552939
GRCh38:
Chr10:71793181-71793182
CDH23G2085fsUsher syndrome type 1DLikely pathogenic
(Jul 27, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr10:73552940-73552941
GRCh38:
Chr10:71793183-71793184
CDH23F2086fsUsher syndrome type 1DLikely pathogenic
(Jul 27, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr10:73269920
GRCh38:
Chr10:71510163
CDH23-AS1, CDH23R76Hnot provided, Pituitary adenoma 5, multiple types, Autosomal recessive nonsyndromic hearing loss 12,
Usher syndrome type 1D		Uncertain significance
(Jan 31, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr10:73572571
GRCh38:
Chr10:71812814
CDH23R3186Q, R83Q, R946Qnot provided, Pituitary adenoma 5, multiple types, Autosomal recessive nonsyndromic hearing loss 12,
Usher syndrome type 1D		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr10:55568600-55568602
GRCh38:
Chr10:53808840-53808842
PCDH15E1735del, E1742delUsher syndrome type 1DUncertain significance
(Nov 1, 2020)		criteria provided, single submitter
70.
GRCh37:
Chr10:55566583-55566584
GRCh38:
Chr10:53806823-53806824
PCDH15S1595fs, S1597fs, S1602fs, S1638fs, S1660fsAutosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F
Uncertain significance
(Mar 18, 2022)		criteria provided, single submitter
71.
GRCh37:
Chr10:73550168
GRCh38:
Chr10:71790411
CDH23T2016IUsher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12Uncertain significance
(Jul 22, 2021)		criteria provided, single submitter
72.
GRCh37:
Chr10:73572601-73572603
GRCh38:
Chr10:71812844-71812846
CDH23N3197del, N94del, N957delUsher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12Uncertain significance
(Jul 22, 2021)		criteria provided, single submitter
73.
GRCh37:
Chr10:55568330-55568331
GRCh38:
Chr10:53808570-53808571
PCDH15Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F,
not provided		Likely benign
(Nov 9, 2021)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr10:73461813
GRCh38:
Chr10:71702056
CDH23G811DUsher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12Uncertain significance
(Jul 14, 2021)		criteria provided, single submitter
75.
GRCh37:
Chr10:73498331
GRCh38:
Chr10:71738574
CDH23P1429RInborn genetic diseases, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
Uncertain significance
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr10:73326674
GRCh38:
Chr10:71566917
CDH23Q202PUsher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12Uncertain significance
(Jul 14, 2021)		criteria provided, single submitter
77.
GRCh37:
Chr10:73494075
GRCh38:
Chr10:71734318
C10orf105, CDH23G1395SUsher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12Uncertain significance
(Jul 14, 2021)		criteria provided, single submitter
78.
GRCh37:
Chr10:73572552
GRCh38:
Chr10:71812795
CDH23V3180F, V77F, V940FAutosomal recessive nonsyndromic hearing loss 12, not provided, Usher syndrome type 1D
Uncertain significance
(Sep 17, 2021)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr10:73437364
GRCh38:
Chr10:71677607
CDH23D556NAutosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1DUncertain significance
(Jul 14, 2021)		criteria provided, single submitter
80.
GRCh37:
Chr10:73550074
GRCh38:
Chr10:71790317
CDH23I1985FAutosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1DUncertain significance
(Jul 14, 2021)		criteria provided, single submitter
81.
GRCh37:
Chr10:73464716
GRCh38:
Chr10:71704959
CDH23R928Cnot provided, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
Uncertain significance
(Jun 4, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr10:73574907
GRCh38:
Chr10:71815150
CDH23E1038K, E1073K, E175K, E210K, E3313KAutosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D, not provided
Uncertain significance
(Sep 17, 2021)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr10:73375273
GRCh38:
Chr10:71615516
CDH23S282NAutosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1DUncertain significance
(Jul 14, 2021)		criteria provided, single submitter
84.
GRCh37:
Chr10:73537621
GRCh38:
Chr10:71777864
CDH23G1677DAutosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1DUncertain significance
(Jul 14, 2021)		criteria provided, single submitter
85.
GRCh37:
Chr10:73464751
GRCh38:
Chr10:71704994
CDH23Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1DUncertain significance
(Jul 14, 2021)		criteria provided, single submitter
86.
GRCh37:
Chr10:73464767
GRCh38:
Chr10:71705010
CDH23G945Snot provided, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr10:73572238
GRCh38:
Chr10:71812481
CDH23A25T, A3128T, A888TAutosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1DUncertain significance
(Jul 14, 2021)		criteria provided, single submitter
88.
GRCh37:
Chr10:73501496
GRCh38:
Chr10:71741739
CDH23R1555GAutosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1DUncertain significance
(Jul 14, 2021)		criteria provided, single submitter
89.
GRCh37:
Chr10:73472553
GRCh38:
Chr10:71712796
CDH23, C10orf105G1118fsUsher syndrome type 1DPathogenic
(Jul 15, 2021)		criteria provided, single submitter
90.
GRCh37:
Chr10:73270876
GRCh38:
Chr10:71511119
CDH23, CDH23-AS1Usher syndrome type 1DPathogenic
(Jul 15, 2021)		criteria provided, single submitter
91.
GRCh37:
Chr10:73484996
GRCh38:
Chr10:71725239
C10orf105, CDH23not provided, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
Benign/Likely benign
(Jul 1, 2021)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr10:73484924
GRCh38:
Chr10:71725167
C10orf105, CDH23not provided, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
Benign/Likely benign
(Jul 1, 2021)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr10:73483976
GRCh38:
Chr10:71724219
C10orf105, CDH23not provided, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
Benign
(Jul 1, 2021)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr10:73450049
GRCh38:
Chr10:71690292
CDH23not provided, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
Benign
(Jul 1, 2021)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr10:73447281
GRCh38:
Chr10:71687524
CDH23not provided, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
Benign/Likely benign
(Jul 1, 2021)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr10:73538164
GRCh38:
Chr10:71778407
CDH23Pituitary adenoma 5, multiple types, Autosomal recessive nonsyndromic hearing loss 12, not provided,
Usher syndrome type 1D		Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr10:73337850
GRCh38:
Chr10:71578093
CDH23Pituitary adenoma 5, multiple types, not provided, Usher syndrome type 1D,
Autosomal recessive nonsyndromic hearing loss 12		Benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr10:73330454
GRCh38:
Chr10:71570697
CDH23Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D, not provided
Benign
(Jul 1, 2021)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr10:73326757
GRCh38:
Chr10:71567000
CDH23Pituitary adenoma 5, multiple types, Autosomal recessive nonsyndromic hearing loss 12, not provided,
Usher syndrome type 1D		Benign/Likely benign
(Jul 14, 2021)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr10:73537358
GRCh38:
Chr10:71777601
CDH23not provided, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
Benign/Likely benign
(Jul 1, 2021)		criteria provided, multiple submitters, no conflicts
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