| - GRCh37:
- Chr3:10427012
- GRCh38:
- Chr3:10385328
| ATP2B2 | | Autosomal recessive nonsyndromic hearing loss 12 | Pathogenic
(Mar 1, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr10:73563131
- GRCh38:
- Chr10:71803374
| CDH23 | P2609L, P369L | Autosomal recessive nonsyndromic hearing loss 12 | Likely pathogenic
(Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73558246
- GRCh38:
- Chr10:71798489
| CDH23 | D82V, D2322V | Autosomal recessive nonsyndromic hearing loss 12 | Likely pathogenic
(Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73563017
- GRCh38:
- Chr10:71803260
| CDH23 | L2571P, L331P | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:72345352
- GRCh38:
- Chr18:74633396
| ZNF407 | G793R | Inborn genetic diseases | Uncertain significance
(Oct 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73567341
- GRCh38:
- Chr10:71807584
| CDH23 | R553W, R2793W | not provided, Autosomal recessive nonsyndromic hearing loss 12 | Conflicting interpretations of pathogenicity
(Feb 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:18561261
- GRCh38:
- Chr22:18078495
| PEX26 | E40G | Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
| Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73551030
- GRCh38:
- Chr10:71791273
| CDH23 | D2064G | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr10:73571777
- GRCh38:
- Chr10:71812020
| CDH23 | | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73464680
- GRCh38:
- Chr10:71704923
| CDH23 | D916N | not provided, Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73466775
- GRCh38:
- Chr10:71707018
| CDH23 | L1026fs | Autosomal recessive nonsyndromic hearing loss 12 | Pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73572132
- GRCh38:
- Chr10:71812375
| CDH23 | | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73326622
- GRCh38:
- Chr10:71566865
| CDH23 | G185S | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73553064
- GRCh38:
- Chr10:71793307
| CDH23 | V2127F | Autosomal recessive nonsyndromic hearing loss 12 | Likely pathogenic
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73537592
- GRCh38:
- Chr10:71777835
| CDH23 | N1667K | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73269980
- GRCh38:
- Chr10:71510223
| CDH23, CDH23-AS1 | E96V | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73377097
- GRCh38:
- Chr10:71617340
| CDH23 | A361S | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73558273
- GRCh38:
- Chr10:71798516
| CDH23 | V2331A, V91A | Autosomal recessive nonsyndromic hearing loss 12 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr10:73337722
- GRCh38:
- Chr10:71577965
| CDH23 | R269W | Autosomal recessive nonsyndromic hearing loss 12 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr10:73511484
- GRCh38:
- Chr10:71751727
| CDH23, VSIR | S280L | Pituitary adenoma 5, multiple types, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D,
not specified | Benign/Likely benign
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73326547
- GRCh38:
- Chr10:71566790
| CDH23 | D160fs | Autosomal recessive nonsyndromic hearing loss 12 | Likely pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73464797
- GRCh38:
- Chr10:71705040
| CDH23 | R955C | not provided, Pituitary adenoma 5, multiple types, Usher syndrome type 1D,
Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73571169
- GRCh38:
- Chr10:71811412
| CDH23 | P3059T, P819T | not 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 |
| - GRCh37:
- Chr10:73464776
- GRCh38:
- Chr10:71705019
| CDH23 | V948F | Pituitary 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 |
| - GRCh37:
- Chr10:73553218
- GRCh38:
- Chr10:71793461
| CDH23 | I2178N | not provided, Autosomal recessive nonsyndromic hearing loss 12 | Conflicting interpretations of pathogenicity
(Feb 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73485279
- GRCh38:
- Chr10:71725522
| CDH23, C10orf105 | | not provided, Autosomal recessive nonsyndromic hearing loss 12 | Pathogenic/Likely pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73406342
- GRCh38:
- Chr10:71646585
| CDH23 | V473I | not 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 |
| - GRCh37:
- Chr10:73550919
- GRCh38:
- Chr10:71791162
| CDH23 | I2027T | Autosomal 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 |
| - GRCh37:
- Chr10:73565632
- GRCh38:
- Chr10:71805875
| CDH23, LOC111982869 | V2648M, V408M | Pituitary 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 |
| - GRCh37:
- Chr10:73472497
- GRCh38:
- Chr10:71712740
| C10orf105, CDH23 | R1099Q | Usher 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 |
| - GRCh37:
- Chr10:73553008
- GRCh38:
- Chr10:71793251
| CDH23 | I2108T | Autosomal 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 |
| - GRCh37:
- Chr10:73490239
- GRCh38:
- Chr10:71730482
| C10orf105, CDH23 | V1198A | not 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 |
| - GRCh37:
- Chr10:73548728
- GRCh38:
- Chr10:71788971
| CDH23 | D1951V | not 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 |
| - GRCh37:
- Chr10:73405587-73405620
- GRCh38:
- Chr10:71645830-71645863
| CDH23 | | not provided, Pituitary adenoma 5, multiple types, Usher syndrome type 1D,
Autosomal recessive nonsyndromic hearing loss 12 | Pathogenic/Likely pathogenic
(Oct 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73566000
- GRCh38:
- Chr10:71806243
| CDH23 | D2714Y, D474Y | Autosomal recessive nonsyndromic hearing loss 12 | Likely pathogenic
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73468959
- GRCh38:
- Chr10:71709202
| CDH23 | E1071K | Autosomal recessive nonsyndromic hearing loss 12 | Likely pathogenic
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73560385
- GRCh38:
- Chr10:71800628
| CDH23 | | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73501589
- GRCh38:
- Chr10:71741832
| CDH23 | A1586P | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73563028
- GRCh38:
- Chr10:71803271
| CDH23 | E2575K, E335K | not provided, not specified, Autosomal recessive nonsyndromic hearing loss 12
| Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73269920
- GRCh38:
- Chr10:71510163
| CDH23-AS1, CDH23 | R76H | not 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 |
| - GRCh37:
- Chr10:73572571
- GRCh38:
- Chr10:71812814
| CDH23 | R3186Q, R83Q, R946Q | not 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 |
| - GRCh37:
- Chr10:73550168
- GRCh38:
- Chr10:71790411
| CDH23 | T2016I | Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73572601-73572603
- GRCh38:
- Chr10:71812844-71812846
| CDH23 | N3197del, N94del, N957del | Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73461813
- GRCh38:
- Chr10:71702056
| CDH23 | G811D | Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73498331
- GRCh38:
- Chr10:71738574
| CDH23 | P1429R | Inborn genetic diseases, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
| Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73326674
- GRCh38:
- Chr10:71566917
| CDH23 | Q202P | Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73494075
- GRCh38:
- Chr10:71734318
| CDH23, C10orf105 | G1395S | Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73572552
- GRCh38:
- Chr10:71812795
| CDH23 | V3180F, V77F, V940F | Autosomal recessive nonsyndromic hearing loss 12, not provided, Usher syndrome type 1D
| Uncertain significance
(Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73437364
- GRCh38:
- Chr10:71677607
| CDH23 | D556N | Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73550074
- GRCh38:
- Chr10:71790317
| CDH23 | I1985F | Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73464716
- GRCh38:
- Chr10:71704959
| CDH23 | R928C | not provided, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
| Uncertain significance
(Jun 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73574907
- GRCh38:
- Chr10:71815150
| CDH23 | E1038K, E1073K, E175K, E210K, E3313K | Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D, not provided
| Uncertain significance
(Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73375273
- GRCh38:
- Chr10:71615516
| CDH23 | S282N | Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73537621
- GRCh38:
- Chr10:71777864
| CDH23 | G1677D | Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73464751
- GRCh38:
- Chr10:71704994
| CDH23 | | Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73464767
- GRCh38:
- Chr10:71705010
| CDH23 | G945S | not provided, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
| Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73572238
- GRCh38:
- Chr10:71812481
| CDH23 | A25T, A3128T, A888T | Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73501496
- GRCh38:
- Chr10:71741739
| CDH23 | R1555G | Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73567764
- GRCh38:
- Chr10:71808007
| CDH23 | G2908R, G668R | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr10:73556873
- GRCh38:
- Chr10:71797116
| CDH23 | V2242E, V2E | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr10:73567524
- GRCh38:
- Chr10:71807767
| CDH23 | G2854W, G614W | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr10:73569636
- GRCh38:
- Chr10:71809879
| CDH23 | F2928V, F688V | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr10:73550113
- GRCh38:
- Chr10:71790356
| CDH23 | V1998M | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr10:73499498
- GRCh38:
- Chr10:71739741
| CDH23 | D1486A | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr10:73492000
- GRCh38:
- Chr10:71732243
| C10orf105, CDH23 | E1324D | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr10:73466656
- GRCh38:
- Chr10:71706899
| CDH23 | L986fs | Autosomal recessive nonsyndromic hearing loss 12 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:73483803
- GRCh38:
- Chr10:71724046
| C10orf105, CDH23 | L1124R | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr10:73553053
- GRCh38:
- Chr10:71793296
| CDH23 | G2123E | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr10:73571065
- GRCh38:
- Chr10:71811308
| CDH23 | | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr10:73537475
- GRCh38:
- Chr10:71777718
| CDH23 | N1628K | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr10:73269838
- GRCh38:
- Chr10:71510081
| CDH23, CDH23-AS1 | | Autosomal recessive nonsyndromic hearing loss 12 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:73565702
- GRCh38:
- Chr10:71805945
| CDH23, LOC111982869 | G2671D, G431D | Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Jul 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr10:73442332
- GRCh38:
- Chr10:71682575
| CDH23 | | Autosomal recessive nonsyndromic hearing loss 12 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr10:73464801
- GRCh38:
- Chr10:71705044
| CDH23 | E956G | Autosomal recessive nonsyndromic hearing loss 12, Ear malformation | Likely pathogenic
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73500652
- GRCh38:
- Chr10:71740895
| CDH23 | N1521S | not provided, Autosomal recessive nonsyndromic hearing loss 12, Ear malformation
| Conflicting interpretations of pathogenicity
(Sep 2, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73484996
- GRCh38:
- Chr10:71725239
| C10orf105, CDH23 | | not provided, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
| Benign/Likely benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73484924
- GRCh38:
- Chr10:71725167
| C10orf105, CDH23 | | Autosomal recessive nonsyndromic hearing loss 12, not provided, Usher syndrome type 1D
| Benign/Likely benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73483976
- GRCh38:
- Chr10:71724219
| CDH23, C10orf105 | | Autosomal recessive nonsyndromic hearing loss 12, not provided, Usher syndrome type 1D
| Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73450049
- GRCh38:
- Chr10:71690292
| CDH23 | | not provided, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
| Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73447281
- GRCh38:
- Chr10:71687524
| CDH23 | | not provided, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
| Benign/Likely benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73538164
- GRCh38:
- Chr10:71778407
| CDH23 | | Pituitary 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 |
| - GRCh37:
- Chr10:73337850
- GRCh38:
- Chr10:71578093
| CDH23 | | Pituitary 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 |
| - GRCh37:
- Chr10:73330454
- GRCh38:
- Chr10:71570697
| CDH23 | | Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D, not provided
| Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73326757
- GRCh38:
- Chr10:71567000
| CDH23 | | Pituitary 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 |
| - GRCh37:
- Chr10:73537358
- GRCh38:
- Chr10:71777601
| CDH23 | | not provided, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
| Benign/Likely benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73558122
- GRCh38:
- Chr10:71798365
| CDH23 | V2281I, V41I | Usher syndrome type 1D, Pituitary adenoma 5, multiple types, Autosomal recessive nonsyndromic hearing loss 12,
not provided | Uncertain significance
(Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73270987
- GRCh38:
- Chr10:71511230
| CDH23, CDH23-AS1 | | Pituitary adenoma 5, multiple types, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D,
not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73450265
- GRCh38:
- Chr10:71690508
| CDH23 | | not provided, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
| Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73565931
- GRCh38:
- Chr10:71806174
| CDH23 | | not provided, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
| Conflicting interpretations of pathogenicity
(Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73572245-73572246
- GRCh38:
- Chr10:71812488-71812489
| CDH23 | P27fs, P3130fs, P890fs | Autosomal recessive nonsyndromic hearing loss 12, not provided | Pathogenic
(Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73375299
- GRCh38:
- Chr10:71615542
| CDH23 | G291R | not provided, Autosomal recessive nonsyndromic hearing loss 12 | Conflicting interpretations of pathogenicity
(Sep 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73560423
- GRCh38:
- Chr10:71800666
| CDH23 | R225W, R2465W | Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73553240
- GRCh38:
- Chr10:71793483
| CDH23 | E2185D | not provided, Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
| Conflicting interpretations of pathogenicity
(Aug 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73406215
- GRCh38:
- Chr10:71646458
| CDH23 | | Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12 | Pathogenic
(Jul 2, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73466659
- GRCh38:
- Chr10:71706902
| CDH23 | D987N | not provided, Autosomal recessive nonsyndromic hearing loss 12 | Conflicting interpretations of pathogenicity
(Feb 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:73537991
- GRCh38:
- Chr10:71778234
| CDH23 | G1705S | not provided, Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73270911
- GRCh38:
- Chr10:71511154
| CDH23, CDH23-AS1 | D124G | not provided, Autosomal recessive nonsyndromic hearing loss 12 | Uncertain significance
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73337695
- GRCh38:
- Chr10:71577938
| CDH23 | A260S | not provided, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D,
Pituitary adenoma 5, multiple types | Uncertain significance
(Sep 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73498294
- GRCh38:
- Chr10:71738537
| CDH23 | R1417W | not specified, Pituitary adenoma 5, multiple types, Usher syndrome type 1D,
Autosomal recessive nonsyndromic hearing loss 12, not provided | Uncertain significance
(Mar 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73405717
- GRCh38:
- Chr10:71645960
| CDH23 | V424M | not provided, Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D,
Pituitary adenoma 5, multiple types | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |