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Items: 1 to 100 of 716

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:56138680
GRCh38:
Chr10:54378920
PCDH15M60I, M38I, M65IUsher syndrome type 1FUncertain significance
(Jan 24, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr10:56128914
GRCh38:
Chr10:54369154
PCDH15F125C, F147C, F152CUsher syndrome type 1FUncertain significance
(Jan 24, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr10:55996583
GRCh38:
Chr10:54236823
PCDH15G329R, G292R, G307R, G334RUsher syndrome type 1FUncertain significance
(Jan 24, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr10:55912859
GRCh38:
Chr10:54153099
PCDH15Usher syndrome type 1FLikely pathogenic
(Jan 24, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr10:55755522-55755523
GRCh38:
Chr10:53995762-53995763
PCDH15M848fs, M897fs, M919fs, M926fs, M931fs, M882fs, M924fsUsher syndrome type 1FPathogenic
(Jan 24, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr10:55700625
GRCh38:
Chr10:53940865
PCDH15Usher syndrome type 1FLikely pathogenic
(Jan 24, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr10:55616979-55616980
GRCh38:
Chr10:53857219-53857220
PCDH15N1259fs, N1261fs, N1217fs, N1254fs, N1183fs, N1232fs, N1266fsUsher syndrome type 1FPathogenic
(Jan 24, 2023)
criteria provided, single submitter
8.
GRCh37:
Chr10:55587210
GRCh38:
Chr10:53827450
PCDH15P1412L, P1434L, P1442L, P1444L, P1397L, P1437L, P1449L, P1366L, P1415LUsher syndrome type 1FUncertain significance
(Jan 24, 2023)
criteria provided, single submitter
9.
GRCh37:
Chr10:55780079
GRCh38:
Chr10:54020319
PCDH15S838L, S882L, S853L, S875L, S887L, S804L, S880LUsher syndrome type 1F, not providedUncertain significance
(Jan 24, 2023)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr10:55892687-55892688
GRCh38:
Chr10:54132927-54132928
PCDH15S585fs, S634fs, S600fs, S622fs, S627fs, S629fsUsher syndrome type 1F, not providedPathogenic
(Jan 24, 2023)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr10:55587192-55587197
GRCh38:
Chr10:53827432-53827437
PCDH15Usher syndrome type 1F, not providedUncertain significance
(Jan 24, 2023)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr10:55580859-55600079
PCDH15Usher syndrome type 1FLikely pathogenic
(Dec 29, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr10:55663131-55955442
PCDH15Usher syndrome type 1FLikely pathogenic
(Oct 11, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr10:55568923
GRCh38:
Chr10:53809163
PCDH15E1627D, E1634DUsher syndrome type 1FUncertain significancecriteria provided, single submitter
15.
GRCh37:
Chr10:56423962-56423963
GRCh38:
Chr10:54664202-54664203
PCDH15Usher syndrome type 1FPathogenic
(May 22, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr10:55849824-55944893
PCDH15Usher syndrome type 1FLikely pathogenic
(Apr 12, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr10:55719491
GRCh38:
Chr10:53959731
PCDH15not provided, Usher syndrome type 1FLikely pathogenic
(Jan 24, 2023)
criteria provided, multiple submitters, no conflicts
18.
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
19.
GRCh37:
Chr10:55943265
GRCh38:
Chr10:54183505
PCDH15P515fs, P473fs, P517fs, P522fs, P510fs, P488fsnot provided, Usher syndrome type 1FPathogenic
(Jan 24, 2023)
criteria provided, multiple submitters, no conflicts
20.
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
21.
GRCh37:
Chr10:55663071
GRCh38:
Chr10:53903311
PCDH15Q1074*, Q1150*, Q1152*, Q1108*, Q1157*, Q1123*, Q1145*not provided, Usher syndrome type 1FPathogenic/Likely pathogenic
(Jan 24, 2023)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr10:56077066
GRCh38:
Chr10:54317306
PCDH15T244A, T259A, T281A, T286AUsher syndrome type 1F, not specifiedUncertain significance
(Jan 24, 2023)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr10:56128923-56128924
GRCh38:
Chr10:54369163-54369164
PCDH15S122fs, S144fs, S149fsnot provided, Usher syndrome type 1FPathogenic
(Apr 2, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr10:55913054-56077030
PCDH15Usher syndrome type 1FLikely pathogenic
(Feb 23, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr10:55663008-55663009
GRCh38:
Chr10:53903248-53903249
PCDH15R1094fs, R1128fs, R1143fs, R1165fs, R1170fs, R1172fs, R1177fsUsher syndrome type 1FLikely pathogenic
(Jan 18, 2022)
criteria provided, single submitter
26.
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
27.
GRCh37:
Chr10:56077030
GRCh38:
Chr10:54317270
PCDH15Usher syndrome type 1FLikely pathogenic
(Dec 3, 2021)
criteria provided, single submitter
28.
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
29.
GRCh37:
Chr10:55944923
GRCh38:
Chr10:54185163
PCDH15R434G, R449G, R471G, R476G, R478G, R483Gnot providedUncertain significance
(Mar 21, 2019)
criteria provided, single submitter
30.
GRCh37:
Chr10:55581812
GRCh38:
Chr10:53822052
PCDH15L1823F, L1852F, L1869F, L1870F, L1872F, L1889F, L1892F, L1894F, L1899FAutosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1FUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr10:55600231
GRCh38:
Chr10:53840471
PCDH15Q1207K, Q1241K, Q1256K, Q1278K, Q1283K, Q1285K, Q1290KAutosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1FUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr10:55582147
GRCh38:
Chr10:53822387
PCDH15P1711R, P1740R, P1757R, P1758R, P1760R, P1777R, P1780R, P1782R, P1787RAutosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1FUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr10:55719579
GRCh38:
Chr10:53959819
PCDH15G1012A, G1017A, G1019A, G1024A, G941A, G975A, G990AAutosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1FUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr10:55588328
GRCh38:
Chr10:53828568
PCDH15K1332R, K1381R, K1403R, K1408R, K1410R, K1415Rnot provided, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F
Uncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr10:55826644
GRCh38:
Chr10:54066884
PCDH15T627I, T661I, T676I, T698I, T703I, T705I, T710Inot provided, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
Uncertain significance
(Jun 4, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr10:55996666
GRCh38:
Chr10:54236906
PCDH15T264M, T279M, T301M, T306Mnot provided, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
Uncertain significance
(Aug 6, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr10:55892661
GRCh38:
Chr10:54132901
PCDH15V594F, V609F, V631F, V636F, V638F, V643FAutosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1FUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr10:55892709
GRCh38:
Chr10:54132949
PCDH15R578C, R593C, R615C, R620C, R622C, R627Cnot provided, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F
Uncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr10:55616973
GRCh38:
Chr10:53857213
PCDH15Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1FUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
40.
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
41.
GRCh37:
Chr10:55582934
GRCh38:
Chr10:53823174
PCDH15D1449N, D1478N, D1495N, D1496N, D1498N, D1515N, D1518N, D1520N, D1525Nnot providedUncertain significance
(Jan 4, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr10:55912993
GRCh38:
Chr10:54153233
PCDH15G514R, G529R, G551R, G556R, G558R, G563Rnot providedUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr10:55626463
GRCh38:
Chr10:53866703
PCDH15K1148R, K1182R, K1197R, K1219R, K1224R, K1226R, K1231Rnot providedUncertain significance
(Sep 6, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr10:55943311
GRCh38:
Chr10:54183551
PCDH15V458I, V473I, V495I, V500I, V502I, V507Inot providedUncertain significance
(Aug 19, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr10:55581762-55581765
GRCh38:
Chr10:53822002-53822005
PCDH15L1839fs, L1868fs, L1885fs, L1886fs, L1888fs, L1905fs, L1908fs, L1910fs, L1915fsnot providedConflicting interpretations of pathogenicity
(Sep 3, 2022)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr10:56089263
GRCh38:
Chr10:54329503
PCDH15not provided, Usher syndrome type 1FBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr10:55826470
GRCh38:
Chr10:54066710
PCDH15not provided, Usher syndrome type 1FBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr10:56287689
GRCh38:
Chr10:54527929
LOC105378311, PCDH15not provided, Usher syndrome type 1FBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr10:56105893
GRCh38:
Chr10:54346133
PCDH15not provided, Usher syndrome type 1FBenign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr10:55849829
GRCh38:
Chr10:54090069
PCDH15not providedLikely benign
(Jun 22, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr10:55581831
GRCh38:
Chr10:53822071
PCDH15Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23, not provided
Conflicting interpretations of pathogenicity
(Jun 22, 2022)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr10:55582962
GRCh38:
Chr10:53823202
PCDH15not providedLikely benign
(Aug 9, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr10:55600175
GRCh38:
Chr10:53840415
PCDH15not providedLikely benign
(Oct 18, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr10:55581897
GRCh38:
Chr10:53822137
PCDH15not providedLikely benign
(Sep 29, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr10:55591175
GRCh38:
Chr10:53831415
PCDH15E1297*, E1331*, E1346*, E1368*, E1373*, E1375*, E1380*Usher syndrome type 1F, not providedPathogenic/Likely pathogenic
(Jan 24, 2023)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr10:55944933
GRCh38:
Chr10:54185173
PCDH15Q430fs, Q445fs, Q467fs, Q472fs, Q474fs, Q479fsUsher syndrome type 1F, not providedPathogenic/Likely pathogenic
(Jan 24, 2023)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr10:55626401
GRCh38:
Chr10:53866641
PCDH15not provided, Usher syndrome type 1D, Usher syndrome type 1F
Pathogenic/Likely pathogenic
(Jan 24, 2023)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr10:55944892
GRCh38:
Chr10:54185132
PCDH15Usher syndrome type 1F, not providedLikely pathogenic
(Jan 24, 2023)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr10:55663001
GRCh38:
Chr10:53903241
PCDH15not provided, Usher syndrome type 1FPathogenic/Likely pathogenic
(Jan 24, 2023)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr10:55587241
GRCh38:
Chr10:53827481
PCDH15P1356S, P1387S, P1402S, P1405S, P1424S, P1427S, P1432S, P1434S, P1439Snot providedUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr10:55616944
GRCh38:
Chr10:53857184
PCDH15D1195A, D1229A, D1244A, D1266A, D1271A, D1273A, D1278Anot providedUncertain significance
(Feb 3, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr10:55582151
GRCh38:
Chr10:53822391
PCDH15P1710S, P1739S, P1756S, P1757S, P1759S, P1776S, P1779S, P1781S, P1786Snot providedUncertain significance
(Jul 29, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr10:55591085
GRCh38:
Chr10:53831325
PCDH15S1327R, S1361R, S1376R, S1398R, S1403R, S1405R, S1410Rnot providedUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr10:56138645
GRCh38:
Chr10:54378885
PCDH15T50N, T72N, T77NUsher 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
65.
GRCh37:
Chr10:55582276
GRCh38:
Chr10:53822516
PCDH15P1668L, P1697L, P1714L, P1715L, P1717L, P1734L, P1737L, P1739L, P1744Lnot providedUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr10:55587198-55587200
GRCh38:
Chr10:53827438-53827440
PCDH15P1372del, P1403del, P1418del, P1421del, P1440del, P1443del, P1448del, P1450del, P1455delnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr10:55826609
GRCh38:
Chr10:54066849
PCDH15V639I, V673I, V688I, V710I, V715I, V717I, V722Inot providedUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr10:55721534
GRCh38:
Chr10:53961774
PCDH15E1001G, E1003G, E1008G, E925G, E959G, E974G, E996Gnot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr10:55566850
GRCh38:
Chr10:53807090
PCDH15E1506A, E1508A, E1513A, E1549A, E1571AAutosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F
Uncertain significance
(Feb 16, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr10:55780067
GRCh38:
Chr10:54020307
PCDH15S857N, S891N, S842N, S879N, S884N, S808N, S886Nnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr10:55581796
GRCh38:
Chr10:53822036
PCDH15A1828G, A1904G, A1874G, A1857G, A1875G, A1877G, A1894G, A1897G, A1899Gnot providedUncertain significance
(Feb 23, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr10:55780030
GRCh38:
Chr10:54020270
PCDH15S854R, S896R, S820R, S869R, S891R, S898R, S903Rnot providedUncertain significance
(Feb 24, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr10:55581775
GRCh38:
Chr10:53822015
PCDH15E1882G, E1835G, E1881G, E1884G, E1901G, E1911G, E1864G, E1904G, E1906Gnot providedUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr10:55582832
GRCh38:
Chr10:53823072
PCDH15F1530L, F1552L, F1483L, F1532L, F1549L, F1512L, F1529L, F1554L, F1559Lnot providedUncertain significance
(Feb 3, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr10:55912914
GRCh38:
Chr10:54153154
PCDH15R582Q, R584Q, R540Q, R589Q, R555Q, R577Qnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr10:55587190
GRCh38:
Chr10:53827430
PCDH15G1404R, G1422R, G1441R, G1456R, G1373R, G1419R, G1444R, G1449R, G1451Rnot providedUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr10:55582749-55582750
GRCh38:
Chr10:53822989-53822990
PCDH15not providedUncertain significance
(Mar 22, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr10:55581803
GRCh38:
Chr10:53822043
PCDH15S1872P, S1873P, S1875P, S1902P, S1826P, S1895P, S1897P, S1855P, S1892Pnot providedUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr10:55582206-55582214
GRCh38:
Chr10:53822446-53822454
PCDH15not providedLikely benign
(May 15, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr10:55600242
GRCh38:
Chr10:53840482
PCDH15Y1286C, Y1203C, Y1237C, Y1279C, Y1281C, Y1252C, Y1274Cnot providedUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr10:55955649
GRCh38:
Chr10:54195889
PCDH15A345S, A330S, A367S, A372Snot providedUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr10:55626451-55626452
GRCh38:
Chr10:53866691-53866692
PCDH15I1152fs, I1186fs, I1201fs, I1223fs, I1228fs, I1230fs, I1235fsAutosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F
Pathogenic
(Oct 1, 2020)
no assertion criteria provided
83.
GRCh37:
Chr10:55721543
GRCh38:
Chr10:53961783
PCDH15N1000S, N1005S, N922S, N956S, N971S, N993S, N998Snot providedUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr10:55582200-55582211
GRCh38:
Chr10:53822440-53822451
PCDH15not providedLikely benign
(Oct 29, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr10:55955520
GRCh38:
Chr10:54195760
PCDH15V373L, V388L, V410L, V415Lnot providedUncertain significance
(Mar 9, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr10:55719514
GRCh38:
Chr10:53959754
PCDH15R1012C, R1034C, R1039C, R1041C, R1046C, R963C, R997Cnot providedUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr10:55755404
GRCh38:
Chr10:53995644
PCDH15S958NUsher 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
88.
GRCh37:
Chr10:55782792
GRCh38:
Chr10:54023032
PCDH15V725I, V759I, V774I, V796I, V801I, V803I, V808Inot providedUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr10:55779944
GRCh38:
Chr10:54020184
PCDH15not providedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr10:55582407-55582409
GRCh38:
Chr10:53822647-53822649
PCDH15P1624del, P1653del, P1670del, P1671del, P1673del, P1690del, P1693del, P1695del, P1700delnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr10:56138660
GRCh38:
Chr10:54378900
PCDH15G45E, G67E, G72Enot providedUncertain significance
(Aug 10, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr10:55581768-55581769
GRCh38:
Chr10:53822008-53822009
PCDH15N1837fs, N1866fs, N1883fs, N1884fs, N1886fs, N1903fs, N1906fs, N1908fs, N1913fsnot providedLikely benign
(May 27, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr10:55943272
GRCh38:
Chr10:54183512
PCDH15T471A, T486A, T508A, T513A, T515A, T520Anot providedUncertain significance
(Apr 16, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr10:55849771
GRCh38:
Chr10:54090011
PCDH15P620L, P635L, P657L, P662L, P664L, P669Lnot providedUncertain significance
(Feb 3, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr10:55700704
GRCh38:
Chr10:53940944
PCDH15G1015R, G1030R, G1052R, G1057R, G1059R, G1064R, G981Rnot 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
96.
GRCh37:
Chr10:55755467
GRCh38:
Chr10:53995707
PCDH15P866L, P900L, P915L, P937L, P942L, P944L, P949Lnot providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr10:55782737
GRCh38:
Chr10:54022977
PCDH15D743G, D777G, D792G, D814G, D819G, D821G, D826Gnot providedUncertain significance
(Jun 20, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr10:55582307
GRCh38:
Chr10:53822547
PCDH15E1658K, E1687K, E1704K, E1705K, E1707K, E1724K, E1727K, E1729K, E1734Knot providedUncertain significance
(Oct 31, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr10:55587153
GRCh38:
Chr10:53827393
PCDH15I1416T, I1434T, I1453T, I1456T, M1385T, M1431T, M1434T, M1456T, M1461T, M1463T, M1468Tnot providedUncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr10:56089356
GRCh38:
Chr10:54329596
PCDH15not providedUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
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