| - GRCh37:
- Chr10:55955570
- GRCh38:
- Chr10:54195810
| PCDH15 | P371L, P356L, P393L, P398L | Autosomal recessive nonsyndromic hearing loss 23 | Likely pathogenic
(Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55568962-55568963
- GRCh38:
- Chr10:53809202-53809203
| PCDH15 | F1621fs, F1614fs | Autosomal recessive nonsyndromic hearing loss 23 | Pathogenic
(Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55849754
- GRCh38:
- Chr10:54089994
| PCDH15 | L641V, L668V, L663V, L670V, L626V, L675V | Autosomal recessive nonsyndromic hearing loss 23 | Uncertain significance
(Nov 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:56106246
- GRCh38:
- Chr10:54346486
| PCDH15 | | Autosomal recessive nonsyndromic hearing loss 23 | Likely pathogenic
(Jun 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:56287566-56287569
- GRCh38:
- Chr10:54527806-54527809
| LOC105378311, PCDH15 | | Autosomal recessive nonsyndromic hearing loss 23 | Uncertain significance
(Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55755429-55755430
- GRCh38:
- Chr10:53995669-53995670
| PCDH15 | A879fs, A913fs, A928fs, A950fs, A955fs, A957fs, A962fs | Autosomal recessive nonsyndromic hearing loss 23 | Pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - 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:
- Chr10:55587274
- 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:
- Chr10:55582107-55582112
- 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:
- Chr10:56128937
- GRCh38:
- Chr10:54369177
| PCDH15 | D117E, D139E, D144E | Autosomal recessive nonsyndromic hearing loss 23 | Likely pathogenic
(Aug 1, 2020) | 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:
- Chr10:55583097
- GRCh38:
- Chr10:53823337
| PCDH15 | Q1395fs, Q1424fs, Q1441fs, Q1442fs, Q1444fs, Q1461fs, Q1464fs, Q1466fs, Q1471fs | Autosomal recessive nonsyndromic hearing loss 23 | Likely pathogenic
(Jul 22, 2021) | 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:
- Chr10:56077152-56077153
- GRCh38:
- Chr10:54317392-54317393
| PCDH15 | T215fs, T230fs, T252fs, T257fs | Autosomal recessive nonsyndromic hearing loss 23 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:56138543
- GRCh38:
- Chr10:54378783
| PCDH15 | D106V, D111V, D84V | Autosomal recessive nonsyndromic hearing loss 23 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr10:55755521
- GRCh38:
- Chr10:53995761
| PCDH15 | M848fs, M882fs, M897fs, M919fs, M924fs, M926fs, M931fs | Autosomal recessive nonsyndromic hearing loss 23 | Pathogenic
(Jul 1, 2021) | no assertion criteria provided |
| - GRCh38:
- Chr10:53995649-54022892
| PCDH15 | | Autosomal recessive nonsyndromic hearing loss 23 | Likely pathogenic
(Jul 1, 2021) | no assertion criteria provided |
| - 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:
- Chr10:56138645
- 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:
- Chr10:55566850
- 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:
- Chr10:55582147
- GRCh38:
- Chr10:53822387
| PCDH15 | P1740H, P1760H, P1787H, P1777H, P1711H, P1757H, P1758H, P1782H, P1780H | Autosomal recessive nonsyndromic hearing loss 23 | Uncertain significance
(Aug 21, 2019) | 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:
- Chr10:55755404
- 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:
- Chr10:55700704
- 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:
- Chr10:56106145
- GRCh38:
- Chr10:54346385
| PCDH15 | Q170*, Q192*, Q197* | Autosomal recessive nonsyndromic hearing loss 23 | Likely pathogenic
(May 6, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr10:55782887
- GRCh38:
- Chr10:54023127
| PCDH15 | R693L, R727L, R742L, R764L, R769L, R771L, R776L | Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23,
not provided | Uncertain significance
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55721540
- GRCh38:
- Chr10:53961780
| PCDH15 | L1001H, L1006H, L923H, L957H, L972H, L994H, L999H | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F
| Uncertain significance
(Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55582106
- GRCh38:
- Chr10:53822346
| PCDH15 | T1725P, T1754P, T1771P, T1772P, T1774P, T1791P, T1794P, T1796P, T1801P | Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23,
not provided | Uncertain significance
(Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55582082
- GRCh38:
- Chr10:53822322
| PCDH15 | T1779A, T1799A, T1802A, T1804A, T1809A, T1762A, T1733A, T1780A, T1782A | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F,
not provided | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55973719
- GRCh38:
- Chr10:54213959
| PCDH15 | Q322*, Q337*, Q364*, Q359* | not provided, Autosomal recessive nonsyndromic hearing loss 23 | Pathogenic/Likely pathogenic
(Jul 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55582676
- GRCh38:
- Chr10:53822916
| PCDH15 | R1535G, R1564G, R1582G, R1584G, R1581G, R1606G, R1611G, R1601G, R1604G | Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23,
not provided | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55582877-55582878
- GRCh38:
- Chr10:53823117-53823118
| PCDH15 | S1514fs, S1534fs, S1515fs, S1537fs, S1468fs, S1497fs, S1517fs, S1539fs, S1544fs | not provided, Usher syndrome type 1D, Usher syndrome type 1F,
Autosomal recessive nonsyndromic hearing loss 23 | Pathogenic/Likely pathogenic
(May 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55943277
- GRCh38:
- Chr10:54183517
| PCDH15 | T513M, T506M, T511M, T469M, T484M, T518M | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F,
not provided | Uncertain significance
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55582622
- GRCh38:
- Chr10:53822862
| PCDH15 | S1622fs, S1600fs, S1602fs, S1619fs, S1553fs, S1582fs, S1599fs, S1624fs, S1629fs | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 23
| Conflicting interpretations of pathogenicity
(Jan 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:55581509
- GRCh38:
- Chr10:53821749
| PCDH15 | | Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D,
Usher syndrome type 1F | Uncertain significance
(Sep 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55626564
- GRCh38:
- Chr10:53866804
| PCDH15 | I1148M, I1163M, I1192M, I1114M, I1197M, I1185M, I1190M | Usher syndrome type 1, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 23,
Usher syndrome type 1F, not provided | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55582870
- GRCh38:
- Chr10:53823110
| PCDH15 | N1516I, N1541I, N1470I, N1517I, N1519I, N1536I, N1546I, N1499I, N1539I | Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23,
not provided | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55826523
- GRCh38:
- Chr10:54066763
| PCDH15 | Q750H, Q716H, Q743H, Q738H, Q667H, Q701H, Q745H | not provided, Usher syndrome type 1D, Usher syndrome type 1F,
Autosomal recessive nonsyndromic hearing loss 23 | Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55839182
- GRCh38:
- Chr10:54079422
| PCDH15 | T672M, T674M, T679M, T596M, T667M, T630M, T645M | Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23,
not provided | Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55582796-55582797
- GRCh38:
- Chr10:53823036-53823037
| PCDH15 | | Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23,
not provided | Pathogenic
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55582934-55582935
- GRCh38:
- Chr10:53823174-53823175
| PCDH15 | | Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23,
not provided | Pathogenic/Likely pathogenic
(Jun 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55996623
- GRCh38:
- Chr10:54236863
| PCDH15 | | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F, not provided
| Likely benign
(Sep 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55626623
- GRCh38:
- Chr10:53866863
| PCDH15 | | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F,
not provided | Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55581844
- GRCh38:
- Chr10:53822084
| PCDH15 | G1858V, G1859V, G1878V, G1881V, G1812V, G1841V, G1861V, G1888V, G1883V | not specified, not provided, Usher syndrome type 1D,
Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23 | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55587197-55587198
- GRCh38:
- Chr10:53827437-53827438
| PCDH15 | | not provided, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D,
Usher syndrome type 1F, not specified | Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55839185-55912859
- GRCh38:
- Chr10:54079425-54153099
| PCDH15 | | Autosomal recessive nonsyndromic hearing loss 23 | Pathogenic
(Jul 1, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr10:55566571-55566572
- GRCh38:
- Chr10:53806811-53806812
| PCDH15 | M1606fs, M1642fs, M1599fs, M1601fs, M1664fs | Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23 | Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:56077119
- GRCh38:
- Chr10:54317359
| PCDH15 | P263Q, P226Q, P241Q, P268Q | Autosomal recessive nonsyndromic hearing loss 23, Hearing loss, autosomal recessive | Pathogenic/Likely pathogenic
(Jul 5, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr10:55721653
- GRCh38:
- Chr10:53961893
| PCDH15 | | Usher syndrome type 1F | Likely pathogenic
(May 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55581761-55581762
- GRCh38:
- Chr10:53822001-53822002
| PCDH15 | R1887fs, R1840fs, R1889fs, R1906fs, R1909fs, R1869fs, R1886fs, R1911fs, R1916fs | not provided, Usher syndrome type 1F, Usher syndrome type 1D,
Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23 | Conflicting interpretations of pathogenicity
(Aug 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:56138586
- GRCh38:
- Chr10:54378826
| PCDH15 | Q92*, Q97*, Q70* | Retinal dystrophy, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F
| Pathogenic/Likely pathogenic
(Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55591150
- GRCh38:
- Chr10:53831390
| PCDH15 | A1376D, A1339D, A1383D, A1381D, A1305D, A1354D, A1388D | Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23,
Usher syndrome type 1F | Uncertain significance
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55581965-55581966
- GRCh38:
- Chr10:53822205-53822206
| PCDH15 | V1801fs, V1848fs, V1819fs, V1838fs, V1843fs, V1772fs, V1818fs, V1821fs, V1841fs | Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23,
Usher syndrome type 1F | Uncertain significance
(Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55566347
- GRCh38:
- Chr10:53806587
| PCDH15 | K1681*, K1674*, K1676*, K1717*, K1739* | Usher syndrome type 1F, Usher syndrome type 1D, Usher syndrome type 1F,
Autosomal recessive nonsyndromic hearing loss 23 | Uncertain significance
(Dec 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55568896
- GRCh38:
- Chr10:53809136
| PCDH15 | T1644fs, T1637fs | Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23,
Usher syndrome type 1F | Uncertain significance
(Jan 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55566854
- GRCh38:
- Chr10:53807094
| PCDH15 | R1512*, R1505*, R1548*, R1507*, R1570* | Usher syndrome type 1F, Usher syndrome type 1D, Usher syndrome type 1F,
Autosomal recessive nonsyndromic hearing loss 23 | Uncertain significance
(Nov 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55582578-55582579
- GRCh38:
- Chr10:53822818-53822819
| PCDH15 | K1567fs, K1596fs, K1636fs, K1638fs, K1643fs, K1613fs, K1633fs, K1614fs, K1616fs | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F,
not specified, not provided, Usher syndrome type 1F
| Conflicting interpretations of pathogenicity
(Oct 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:55587198-55587206
- GRCh38:
- Chr10:53827438-53827446
| PCDH15 | | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F,
not provided, Usher syndrome type 1F | Uncertain significance
(Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| | | | Hearing loss, autosomal recessive | Pathogenic
(Oct 26, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr10:55719513
- GRCh38:
- Chr10:53959753
| PCDH15 | R1034H, R1012H, R1046H, R963H, R997H, R1039H, R1041H | not specified, not provided, Usher syndrome type 1F,
Autosomal recessive nonsyndromic hearing loss 23 | Uncertain significance
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:56077074
- GRCh38:
- Chr10:54317314
| PCDH15 | R278H, R283H, R241H, R256H | Usher syndrome type 1, not specified, not provided,
Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D,
Usher syndrome type 1F | Uncertain significance
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55582561
- GRCh38:
- Chr10:53822801
| PCDH15 | G1642D, G1619D, G1649D, G1620D, G1622D, G1639D, G1644D, G1573D, G1602D | not provided, Usher syndrome type 1D, Usher syndrome type 1F,
Autosomal recessive nonsyndromic hearing loss 23, not specified | Uncertain significance
(Nov 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:56287598
- GRCh38:
- Chr10:54527838
| LOC105378311, PCDH15 | V44A, V49A | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F, not provided
| Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:55600206
- GRCh38:
- Chr10:53840446
| PCDH15 | V1286E, V1215E, V1298E, V1249E, V1264E, V1293E, V1291E | not provided | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55569099
- GRCh38:
- Chr10:53809339
| PCDH15 | Q1576*, Q1569* | Autosomal recessive nonsyndromic hearing loss 23 | Pathogenic
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:55587152
- GRCh38:
- Chr10:53827392
| PCDH15 | | Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23,
Usher syndrome type 1F | Likely pathogenic
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55755492
- GRCh38:
- Chr10:53995732
| PCDH15 | R929*, R934*, R858*, R941*, R892*, R907*, R936* | not provided, Usher syndrome type 1F | Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:56106125
- GRCh38:
- Chr10:54346365
| PCDH15 | | Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F,
not provided, Usher syndrome type 1, not specified
| Uncertain significance
(Dec 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55892652
- GRCh38:
- Chr10:54132892
| PCDH15 | V634I, V646I, V597I, V612I, V639I, V641I | Usher syndrome type 1, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 23,
Usher syndrome type 1F, not provided, not specified,
Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:55780122
- GRCh38:
- Chr10:54020362
| PCDH15 | V861M, V790M, V824M, V873M, V868M, V866M, V839M | Usher syndrome type 1, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 23,
Usher syndrome type 1F, not provided, Hearing impairment,
not specified, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F
| Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55582168
- GRCh38:
- Chr10:53822408
| PCDH15 | P1773R, P1780R, P1750R, P1751R, P1753R, P1775R, P1704R, P1733R, P1770R | not provided, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 23,
Usher syndrome type 1F, Usher syndrome type 1, Usher syndrome type 1F
| Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55581833
- GRCh38:
- Chr10:53822073
| PCDH15 | H1885Y, H1862Y, H1865Y, H1882Y, H1863Y, H1892Y, H1845Y, H1816Y, H1887Y | Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F,
Usher syndrome type 1 | Uncertain significance
(Sep 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55955543
- GRCh38:
- Chr10:54195783
| PCDH15 | G407A, G402A, G380A, G365A | not specified, not provided, Usher syndrome type 1D,
Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1,
Usher syndrome type 1F | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:55719652
- GRCh38:
- Chr10:53959892
| PCDH15 | | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 23,
Usher syndrome type 1F | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55779915
- GRCh38:
- Chr10:54020155
| PCDH15 | | not provided, not specified, Usher syndrome type 1F,
Autosomal recessive nonsyndromic hearing loss 23 | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55943184
- GRCh38:
- Chr10:54183424
| PCDH15 | | not provided, Usher syndrome type 1F, not specified,
Autosomal recessive nonsyndromic hearing loss 23 | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55566453-55566454
- GRCh38:
- Chr10:53806693-53806694
| PCDH15 | | not specified, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D,
Usher syndrome type 1F | Uncertain significance
(Oct 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55582674
- GRCh38:
- Chr10:53822914
| PCDH15 | R1604S, R1535S, R1584S, R1601S, R1564S, R1582S, R1606S, R1581S, R1611S | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F,
not provided, not specified, Usher syndrome type 1
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55892601-55892602
- GRCh38:
- Chr10:54132841-54132842
| PCDH15 | | not specified, Usher syndrome type 1F, not provided,
Autosomal recessive nonsyndromic hearing loss 23 | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55566406
- GRCh38:
- Chr10:53806646
| PCDH15 | Q1661P, Q1697P, Q1654P, Q1656P, Q1719P | not specified, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F,
not provided | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55568530
- GRCh38:
- Chr10:53808770
| PCDH15 | | not specified, not provided, Usher syndrome type 1D,
Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23 | Benign/Likely benign
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55663053
- GRCh38:
- Chr10:53903293
| PCDH15 | G1151R, G1114R, G1163R, G1156R, G1129R, G1158R, G1080R | not specified, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 23,
Usher syndrome type 1F, not provided, Usher syndrome type 1
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55849814
- GRCh38:
- Chr10:54090054
| PCDH15 | R643*, R621*, R650*, R655*, R606*, R648* | not provided, Usher syndrome type 1F, Rare genetic deafness,
Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D,
Usher syndrome type 1F | Pathogenic
(Apr 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55582184-55582192
- GRCh38:
- Chr10:53822424-53822432
| PCDH15 | | Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23,
not specified, not provided | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:56077198
- GRCh38:
- Chr10:54317438
| PCDH15 | R237C, R215C, R200C, R242C | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 23,
Usher syndrome type 1D, Usher syndrome type 1F | Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:56077173
- GRCh38:
- Chr10:54317413
| PCDH15 | R245Q, R208Q, R223Q, R250Q | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F,
not specified, not provided | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55826635
- GRCh38:
- Chr10:54066875
| PCDH15 | A701V, A630V, A706V, A708V, A664V, A713V, A679V | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F,
not specified, not provided | Uncertain significance
(Nov 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55600068
- GRCh38:
- Chr10:53840308
| PCDH15 | | Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F,
not specified, not provided, Usher syndrome type 1
| Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:55782809-55782811
- GRCh38:
- Chr10:54023049-54023051
| PCDH15 | V790del, V719del, V753del, V802del, V768del, V795del, V797del | not specified, not provided, Usher syndrome type 1F,
Autosomal recessive nonsyndromic hearing loss 23 | Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:55996619
- GRCh38:
- Chr10:54236859
| PCDH15 | S317T, S295T, S280T, S322T | not specified, not provided, Autosomal recessive nonsyndromic hearing loss 23
| Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |