| - GRCh37:
- Chr10:56138680
- GRCh38:
- Chr10:54378920
| PCDH15 | M60I, M38I, M65I | Usher syndrome type 1F | Uncertain significance (Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:56128914
- GRCh38:
- Chr10:54369154
| PCDH15 | F125C, F147C, F152C | Usher syndrome type 1F | Uncertain significance (Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55996583
- GRCh38:
- Chr10:54236823
| PCDH15 | G329R, G292R, G307R, G334R | Usher syndrome type 1F | Uncertain significance (Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55912859
- GRCh38:
- Chr10:54153099
| PCDH15 | | Usher syndrome type 1F | Likely pathogenic (Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55755522-55755523
- GRCh38:
- Chr10:53995762-53995763
| PCDH15 | M848fs, M897fs, M919fs, M926fs, M931fs, M882fs, M924fs | Usher syndrome type 1F | Pathogenic (Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55700625
- GRCh38:
- Chr10:53940865
| PCDH15 | | Usher syndrome type 1F | Likely pathogenic (Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55616979-55616980
- GRCh38:
- Chr10:53857219-53857220
| PCDH15 | N1259fs, N1261fs, N1217fs, N1254fs, N1183fs, N1232fs, N1266fs | Usher syndrome type 1F | Pathogenic (Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55587210
- GRCh38:
- Chr10:53827450
| PCDH15 | P1412L, P1434L, P1442L, P1444L, P1397L, P1437L, P1449L, P1366L, P1415L | Usher syndrome type 1F | Uncertain significance (Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55780079
- GRCh38:
- Chr10:54020319
| PCDH15 | S838L, S882L, S853L, S875L, S887L, S804L, S880L | Usher syndrome type 1F, not specified, not provided
| Uncertain significance (Apr 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55892687-55892688
- GRCh38:
- Chr10:54132927-54132928
| PCDH15 | S585fs, S634fs, S600fs, S622fs, S627fs, S629fs | Usher syndrome type 1F, not provided | Pathogenic (Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55587192-55587197
- GRCh38:
- Chr10:53827432-53827437
| PCDH15 | | Usher syndrome type 1F, not provided | Uncertain significance (Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55580859-55600079
| PCDH15 | | Usher syndrome type 1F | Likely pathogenic (Dec 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55663131-55955442
| PCDH15 | | Usher syndrome type 1F | Likely pathogenic (Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55568923
- GRCh38:
- Chr10:53809163
| PCDH15 | E1627D, E1634D | Usher syndrome type 1F | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr10:56423962-56423963
- GRCh38:
- Chr10:54664202-54664203
| PCDH15 | | Usher syndrome type 1F | Pathogenic (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55849824-55944893
| PCDH15 | | Usher syndrome type 1F | Likely pathogenic (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55719491
- GRCh38:
- Chr10:53959731
| PCDH15 | | not provided, Usher syndrome type 1F | Likely pathogenic (Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55944935
- GRCh38:
- Chr10:54185175
| PCDH15 | Q467*, 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 |
| - GRCh37:
- Chr10:55943265
- GRCh38:
- Chr10:54183505
| PCDH15 | P515fs, P473fs, P517fs, P522fs, P510fs, P488fs | not provided, Usher syndrome type 1F | Pathogenic (Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55587274
- GRCh38:
- Chr10:53827514
| PCDH15 | Q1391K, Q1394K, Q1413K, Q1345K, Q1416K, Q1428K, Q1376K, Q1421K, Q1423K | Usher 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 |
| - GRCh37:
- Chr10:55663071
- GRCh38:
- Chr10:53903311
| PCDH15 | Q1074*, Q1150*, Q1152*, Q1108*, Q1157*, Q1123*, Q1145* | not provided, Usher syndrome type 1F | Pathogenic/Likely pathogenic (Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:56077066
- GRCh38:
- Chr10:54317306
| PCDH15 | T244A, T259A, T281A, T286A | Usher syndrome type 1F, not specified | Uncertain significance (Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:56128923-56128924
- GRCh38:
- Chr10:54369163-54369164
| PCDH15 | S122fs, S144fs, S149fs | not provided, Usher syndrome type 1F | Pathogenic (Apr 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55913054-56077030
| PCDH15 | | Usher syndrome type 1F | Likely pathogenic (Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55663008-55663009
- GRCh38:
- Chr10:53903248-53903249
| PCDH15 | R1094fs, R1128fs, R1143fs, R1165fs, R1170fs, R1172fs, R1177fs | Usher syndrome type 1F | Likely pathogenic (Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55582107-55582112
- GRCh38:
- Chr10:53822347-53822352
| PCDH15 | | not 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 |
| - GRCh37:
- Chr10:56077030
- GRCh38:
- Chr10:54317270
| PCDH15 | | Usher syndrome type 1F | Likely pathogenic (Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55566583-55566584
- GRCh38:
- Chr10:53806823-53806824
| PCDH15 | S1595fs, S1597fs, S1602fs, S1638fs, S1660fs | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F
| Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55944923
- GRCh38:
- Chr10:54185163
| PCDH15 | R434G, R449G, R471G, R476G, R478G, R483G | not provided | Uncertain significance (Mar 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55581812
- GRCh38:
- Chr10:53822052
| PCDH15 | L1823F, L1852F, L1869F, L1870F, L1872F, L1889F, L1892F, L1894F, L1899F | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F | Uncertain significance (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55600231
- GRCh38:
- Chr10:53840471
| PCDH15 | Q1207K, Q1241K, Q1256K, Q1278K, Q1283K, Q1285K, Q1290K | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F | Uncertain significance (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55582147
- GRCh38:
- Chr10:53822387
| PCDH15 | P1711R, P1740R, P1757R, P1758R, P1760R, P1777R, P1780R, P1782R, P1787R | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F | Uncertain significance (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55719579
- GRCh38:
- Chr10:53959819
| PCDH15 | G1012A, G1017A, G1019A, G1024A, G941A, G975A, G990A | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F | Uncertain significance (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55588328
- GRCh38:
- Chr10:53828568
| PCDH15 | K1332R, K1381R, K1403R, K1408R, K1410R, K1415R | not provided, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F
| Uncertain significance (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55826644
- GRCh38:
- Chr10:54066884
| PCDH15 | T627I, T661I, T676I, T698I, T703I, T705I, T710I | not provided, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
| Uncertain significance (Jun 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55996666
- GRCh38:
- Chr10:54236906
| PCDH15 | T264M, T279M, T301M, T306M | not provided, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
| Uncertain significance (Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55892661
- GRCh38:
- Chr10:54132901
| PCDH15 | V594F, V609F, V631F, V636F, V638F, V643F | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F | Uncertain significance (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55892709
- GRCh38:
- Chr10:54132949
| PCDH15 | R578C, R593C, R615C, R620C, R622C, R627C | not provided, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F
| Uncertain significance (Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55616973
- GRCh38:
- Chr10:53857213
| PCDH15 | | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F | Uncertain significance (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55568330-55568331
- GRCh38:
- Chr10:53808570-53808571
| PCDH15 | | Autosomal 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 |
| - GRCh37:
- Chr10:55582934
- GRCh38:
- Chr10:53823174
| PCDH15 | D1449N, D1478N, D1495N, D1496N, D1498N, D1515N, D1518N, D1520N, D1525N | not provided | Uncertain significance (Jan 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55912993
- GRCh38:
- Chr10:54153233
| PCDH15 | G514R, G529R, G551R, G556R, G558R, G563R | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55626463
- GRCh38:
- Chr10:53866703
| PCDH15 | K1148R, K1182R, K1197R, K1219R, K1224R, K1226R, K1231R | not provided | Uncertain significance (Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55943311
- GRCh38:
- Chr10:54183551
| PCDH15 | V458I, V473I, V495I, V500I, V502I, V507I | not provided | Uncertain significance (Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55581762-55581765
- GRCh38:
- Chr10:53822002-53822005
| PCDH15 | L1839fs, L1868fs, L1885fs, L1886fs, L1888fs, L1905fs, L1908fs, L1910fs, L1915fs | not provided | Conflicting interpretations of pathogenicity (Sep 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:56089263
- GRCh38:
- Chr10:54329503
| PCDH15 | | not provided, Usher syndrome type 1F | Benign (Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55826470
- GRCh38:
- Chr10:54066710
| PCDH15 | | not provided, Usher syndrome type 1F | Benign (Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:56287689
- GRCh38:
- Chr10:54527929
| LOC105378311, PCDH15 | | not provided, Usher syndrome type 1F | Benign (Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:56105893
- GRCh38:
- Chr10:54346133
| PCDH15 | | not provided, Usher syndrome type 1F | Benign (Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55849829
- GRCh38:
- Chr10:54090069
| PCDH15 | | not provided | Likely benign (Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55581831
- GRCh38:
- Chr10:53822071
| PCDH15 | | Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23, not provided
| Conflicting interpretations of pathogenicity (Jun 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:55582962
- GRCh38:
- Chr10:53823202
| PCDH15 | | not provided | Likely benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55600175
- GRCh38:
- Chr10:53840415
| PCDH15 | | not provided | Likely benign (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55581897
- GRCh38:
- Chr10:53822137
| PCDH15 | | not provided | Likely benign (Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55591175
- GRCh38:
- Chr10:53831415
| PCDH15 | E1297*, E1331*, E1346*, E1368*, E1373*, E1375*, E1380* | Usher syndrome type 1F, not provided | Pathogenic/Likely pathogenic (Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55944933
- GRCh38:
- Chr10:54185173
| PCDH15 | Q430fs, Q445fs, Q467fs, Q472fs, Q474fs, Q479fs | Usher syndrome type 1F, not provided | Pathogenic/Likely pathogenic (Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55626401
- GRCh38:
- Chr10:53866641
| PCDH15 | | not provided, Usher syndrome type 1F, Usher syndrome type 1D
| Pathogenic/Likely pathogenic (Apr 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55944892
- GRCh38:
- Chr10:54185132
| PCDH15 | | not provided, Usher syndrome type 1F | Likely pathogenic (Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55663001
- GRCh38:
- Chr10:53903241
| PCDH15 | | not provided, Usher syndrome type 1F | Pathogenic/Likely pathogenic (Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55587241
- GRCh38:
- Chr10:53827481
| PCDH15 | P1356S, P1387S, P1402S, P1405S, P1424S, P1427S, P1432S, P1434S, P1439S | not provided | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55616944
- GRCh38:
- Chr10:53857184
| PCDH15 | D1195A, D1229A, D1244A, D1266A, D1271A, D1273A, D1278A | not provided | Uncertain significance (Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55582151
- GRCh38:
- Chr10:53822391
| PCDH15 | P1710S, P1739S, P1756S, P1757S, P1759S, P1776S, P1779S, P1781S, P1786S | not provided | Uncertain significance (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55591085
- GRCh38:
- Chr10:53831325
| PCDH15 | S1327R, S1361R, S1376R, S1398R, S1403R, S1405R, S1410R | not provided | Uncertain significance (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:56138645
- GRCh38:
- Chr10:54378885
| PCDH15 | T50N, T72N, T77N | Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23, not provided | Uncertain significance (Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55582276
- GRCh38:
- Chr10:53822516
| PCDH15 | P1668L, P1697L, P1714L, P1715L, P1717L, P1734L, P1737L, P1739L, P1744L | not provided | Uncertain significance (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55587198-55587200
- GRCh38:
- Chr10:53827438-53827440
| PCDH15 | P1372del, P1403del, P1418del, P1421del, P1440del, P1443del, P1448del, P1450del, P1455del | not provided | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55826609
- GRCh38:
- Chr10:54066849
| PCDH15 | V639I, V673I, V688I, V710I, V715I, V717I, V722I | not provided | Uncertain significance (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55721534
- GRCh38:
- Chr10:53961774
| PCDH15 | E1001G, E1003G, E1008G, E925G, E959G, E974G, E996G | not provided | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55566850
- GRCh38:
- Chr10:53807090
| PCDH15 | E1506A, E1508A, E1513A, E1549A, E1571A | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F
| Uncertain significance (Feb 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55780067
- GRCh38:
- Chr10:54020307
| PCDH15 | S857N, S891N, S842N, S879N, S884N, S808N, S886N | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55581796
- GRCh38:
- Chr10:53822036
| PCDH15 | A1828G, A1904G, A1874G, A1857G, A1875G, A1877G, A1894G, A1897G, A1899G | not provided | Uncertain significance (Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55780030
- GRCh38:
- Chr10:54020270
| PCDH15 | S854R, S896R, S820R, S869R, S891R, S898R, S903R | not provided | Uncertain significance (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55581775
- GRCh38:
- Chr10:53822015
| PCDH15 | E1882G, E1835G, E1881G, E1884G, E1901G, E1911G, E1864G, E1904G, E1906G | not provided | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55582832
- GRCh38:
- Chr10:53823072
| PCDH15 | F1530L, F1552L, F1483L, F1532L, F1549L, F1512L, F1529L, F1554L, F1559L | not provided | Uncertain significance (Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55912914
- GRCh38:
- Chr10:54153154
| PCDH15 | R582Q, R584Q, R540Q, R589Q, R555Q, R577Q | not provided | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55587190
- GRCh38:
- Chr10:53827430
| PCDH15 | G1404R, G1422R, G1441R, G1456R, G1373R, G1419R, G1444R, G1449R, G1451R | not provided | Uncertain significance (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55582749-55582750
- GRCh38:
- Chr10:53822989-53822990
| PCDH15 | | not provided | Uncertain significance (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55581803
- GRCh38:
- Chr10:53822043
| PCDH15 | S1872P, S1873P, S1875P, S1902P, S1826P, S1895P, S1897P, S1855P, S1892P | not provided | Uncertain significance (Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55582206-55582214
- GRCh38:
- Chr10:53822446-53822454
| PCDH15 | | not provided | Likely benign (May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55600242
- GRCh38:
- Chr10:53840482
| PCDH15 | Y1286C, Y1203C, Y1237C, Y1279C, Y1281C, Y1252C, Y1274C | not provided | Uncertain significance (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55955649
- GRCh38:
- Chr10:54195889
| PCDH15 | A345S, A330S, A367S, A372S | not provided | Uncertain significance (Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55626451-55626452
- GRCh38:
- Chr10:53866691-53866692
| PCDH15 | I1152fs, I1186fs, I1201fs, I1223fs, I1228fs, I1230fs, I1235fs | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F
| Pathogenic (Oct 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr10:55721543
- GRCh38:
- Chr10:53961783
| PCDH15 | N1000S, N1005S, N922S, N956S, N971S, N993S, N998S | not provided | Uncertain significance (Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55582200-55582211
- GRCh38:
- Chr10:53822440-53822451
| PCDH15 | | not provided | Likely benign (Oct 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55955520
- GRCh38:
- Chr10:54195760
| PCDH15 | V373L, V388L, V410L, V415L | not provided | Uncertain significance (Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55719514
- GRCh38:
- Chr10:53959754
| PCDH15 | R1012C, R1034C, R1039C, R1041C, R1046C, R963C, R997C | not provided | Uncertain significance (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55755404
- GRCh38:
- Chr10:53995644
| PCDH15 | S958N | Usher 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 |
| - GRCh37:
- Chr10:55782792
- GRCh38:
- Chr10:54023032
| PCDH15 | V725I, V759I, V774I, V796I, V801I, V803I, V808I | not provided | Uncertain significance (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55779944
- GRCh38:
- Chr10:54020184
| PCDH15 | | not provided | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55582407-55582409
- GRCh38:
- Chr10:53822647-53822649
| PCDH15 | P1624del, P1653del, P1670del, P1671del, P1673del, P1690del, P1693del, P1695del, P1700del | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:56138660
- GRCh38:
- Chr10:54378900
| PCDH15 | G45E, G67E, G72E | not provided | Uncertain significance (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55581768-55581769
- GRCh38:
- Chr10:53822008-53822009
| PCDH15 | N1837fs, N1866fs, N1883fs, N1884fs, N1886fs, N1903fs, N1906fs, N1908fs, N1913fs | not provided | Likely benign (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55943272
- GRCh38:
- Chr10:54183512
| PCDH15 | T471A, T486A, T508A, T513A, T515A, T520A | not provided | Uncertain significance (Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55849771
- GRCh38:
- Chr10:54090011
| PCDH15 | P620L, P635L, P657L, P662L, P664L, P669L | not provided | Uncertain significance (Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55700704
- GRCh38:
- Chr10:53940944
| PCDH15 | G1015R, G1030R, G1052R, G1057R, G1059R, G1064R, G981R | not provided, Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23 | Uncertain significance (Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55755467
- GRCh38:
- Chr10:53995707
| PCDH15 | P866L, P900L, P915L, P937L, P942L, P944L, P949L | not provided | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55782737
- GRCh38:
- Chr10:54022977
| PCDH15 | D743G, D777G, D792G, D814G, D819G, D821G, D826G | not provided | Uncertain significance (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55582307
- GRCh38:
- Chr10:53822547
| PCDH15 | E1658K, E1687K, E1704K, E1705K, E1707K, E1724K, E1727K, E1729K, E1734K | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity (Mar 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:55587153
- GRCh38:
- Chr10:53827393
| PCDH15 | I1416T, I1434T, I1453T, I1456T, M1385T, M1431T, M1434T, M1456T, M1461T, M1463T, M1468T | not provided | Uncertain significance (Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:56089356
- GRCh38:
- Chr10:54329596
| PCDH15 | | not provided | Uncertain significance (Jul 14, 2022) | criteria provided, single submitter |