| - GRCh37:
- Chr16:2546150-2550959
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550425
- GRCh38:
- Chr16:2500424
| TBC1D24 | H481Y, H487Y | Autosomal dominant nonsyndromic hearing loss 65 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546895
- GRCh38:
- Chr16:2496894
| TBC1D24 | K249M | Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2548246
- GRCh38:
- Chr16:2498245
| TBC1D24 | V331I, V325I | Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546626
- GRCh38:
- Chr16:2496625
| TBC1D24 | | not provided, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24,
Autosomal dominant nonsyndromic hearing loss 65 | Conflicting interpretations of pathogenicity
(Dec 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:2548330
- GRCh38:
- Chr16:2498329
| TBC1D24 | E359K, E353K | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2547079
- GRCh38:
- Chr16:2497078
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546281
- GRCh38:
- Chr16:2496280
| TBC1D24 | W44* | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Pathogenic
(Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550313
- GRCh38:
- Chr16:2500312
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550465
- GRCh38:
- Chr16:2500464
| TBC1D24 | A494G, A500G | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely pathogenic
(Jan 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546926
- GRCh38:
- Chr16:2496925
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546866
- GRCh38:
- Chr16:2496865
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546926
- GRCh38:
- Chr16:2496925
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550838
- GRCh38:
- Chr16:2500837
| TBC1D24 | G520E, G514E | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546832
- GRCh38:
- Chr16:2496831
| TBC1D24 | V228D | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2547700
- GRCh38:
- Chr16:2497699
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546918
- GRCh38:
- Chr16:2496917
| TBC1D24 | G257R | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546480
- GRCh38:
- Chr16:2496479
| TBC1D24 | E111Q | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546567
- GRCh38:
- Chr16:2496566
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2549349
- GRCh38:
- Chr16:2499348
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(May 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546419-2546435
- GRCh38:
- Chr16:2496418-2496434
| TBC1D24 | P91fs | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Pathogenic
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546330
- GRCh38:
- Chr16:2496329
| TBC1D24 | D61Y | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546423
- GRCh38:
- Chr16:2496422
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546433
- GRCh38:
- Chr16:2496432
| TBC1D24 | F95S | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2549432
- GRCh38:
- Chr16:2499431
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550453
- GRCh38:
- Chr16:2500452
| TBC1D24 | M491fs, M497fs | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Pathogenic
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546870
- GRCh38:
- Chr16:2496869
| TBC1D24 | Y241N | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546396
- GRCh38:
- Chr16:2496395
| TBC1D24 | G83C | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546501
- GRCh38:
- Chr16:2496500
| TBC1D24 | L118F | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546488
- GRCh38:
- Chr16:2496487
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24
| Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550474
- GRCh38:
- Chr16:2500473
| TBC1D24 | S497N, S503N | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24
| Uncertain significance
(Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2549838
- GRCh38:
- Chr16:2499837
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24
| Likely benign
(Feb 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546657
- GRCh38:
- Chr16:2496656
| TBC1D24 | D170N | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24
| Uncertain significance
(May 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550361-2550362
- GRCh38:
- Chr16:2500360-2500361
| TBC1D24 | S466fs, S472fs | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24
| Pathogenic
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550861
- GRCh38:
- Chr16:2500860
| TBC1D24 | S522G, S528G | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24
| Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546466
- GRCh38:
- Chr16:2496465
| TBC1D24 | L106Q | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24
| Uncertain significance
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546343
- GRCh38:
- Chr16:2496342
| TBC1D24 | R65H | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546173
- GRCh38:
- Chr16:2496172
| TBC1D24 | C8W | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550862
- GRCh38:
- Chr16:2500861
| TBC1D24 | S522N, S528N | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546497
- GRCh38:
- Chr16:2496496
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546188
- GRCh38:
- Chr16:2496187
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546546
- GRCh38:
- Chr16:2496545
| TBC1D24 | A133S | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546311
- GRCh38:
- Chr16:2496310
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546194
- GRCh38:
- Chr16:2496193
| TBC1D24 | M15I | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Dec 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550471
- GRCh38:
- Chr16:2500470
| TBC1D24 | G502D, G496D | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2549950
- GRCh38:
- Chr16:2499949
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(Aug 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546607
- GRCh38:
- Chr16:2496606
| TBC1D24 | E153G | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546218
- GRCh38:
- Chr16:2496217
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546780
- GRCh38:
- Chr16:2496779
| TBC1D24 | D211N | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2547130
- GRCh38:
- Chr16:2497129
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550850
- GRCh38:
- Chr16:2500849
| TBC1D24 | G519fs, G525fs | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Pathogenic
(Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2549816
- GRCh38:
- Chr16:2499815
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Jan 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550301
- GRCh38:
- Chr16:2500300
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546704
- GRCh38:
- Chr16:2496703
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546566
- GRCh38:
- Chr16:2496565
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546529
- GRCh38:
- Chr16:2496528
| TBC1D24 | D127G | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2548341
- GRCh38:
- Chr16:2498340
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2549885
- GRCh38:
- Chr16:2499884
| TBC1D24 | G413A, G419A | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Jun 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550432
- GRCh38:
- Chr16:2500431
| TBC1D24 | N489S, N483S | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Jun 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550870
- GRCh38:
- Chr16:2500869
| TBC1D24 | D525Y, D531Y | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550880
- GRCh38:
- Chr16:2500879
| TBC1D24 | N528S, N534S | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2548249
- GRCh38:
- Chr16:2498248
| TBC1D24 | H326Y, H332Y | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546817-2546818
- GRCh38:
- Chr16:2496816-2496817
| TBC1D24 | C223* | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Pathogenic
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550889
- GRCh38:
- Chr16:2500888
| TBC1D24 | P531H, P537H | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550465-2550466
- GRCh38:
- Chr16:2500464-2500465
| TBC1D24 | S497fs, S503fs | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Pathogenic
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550853
- GRCh38:
- Chr16:2500852
| TBC1D24 | G525D, G519D | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550912
- GRCh38:
- Chr16:2500911
| TBC1D24 | I539F, I545F | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546977
- GRCh38:
- Chr16:2496976
| TBC1D24 | I276M | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2549842
- GRCh38:
- Chr16:2499841
| TBC1D24 | G399S, G405S | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Sep 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2549898
- GRCh38:
- Chr16:2499897
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2547131
- GRCh38:
- Chr16:2497130
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2549927
- GRCh38:
- Chr16:2499926
| TBC1D24 | F427S, F433S | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546990
- GRCh38:
- Chr16:2496989
| TBC1D24 | S281P | Caused by mutation in the TBC1 domain family, member 24, Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550934
- GRCh38:
- Chr16:2500933
| TBC1D24 | G546V, G552V | Caused by mutation in the TBC1 domain family, member 24, Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1
| Uncertain significance
(Oct 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546980
- GRCh38:
- Chr16:2496979
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1
| Likely benign
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546749
- GRCh38:
- Chr16:2496748
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1
| Likely benign
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546406
- GRCh38:
- Chr16:2496405
| TBC1D24 | S86N | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24,
Inborn genetic diseases | Uncertain significance
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:2546960
- GRCh38:
- Chr16:2496959
| TBC1D24 | T271A | Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1,
Caused by mutation in the TBC1 domain family, member 24 | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:2546610
- GRCh38:
- Chr16:2496609
| TBC1D24 | K154R | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24
| Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546474
- GRCh38:
- Chr16:2496473
| TBC1D24 | R109S | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24
| Uncertain significance
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546604
- GRCh38:
- Chr16:2496603
| TBC1D24 | F152S | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24
| Uncertain significance
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2548271
- GRCh38:
- Chr16:2498270
| TBC1D24 | N333T, N339T | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24
| Uncertain significance
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546482
- GRCh38:
- Chr16:2496481
| TBC1D24 | E111D | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24
| Uncertain significance
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546309
- GRCh38:
- Chr16:2496308
| TBC1D24 | V54L | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24
| Uncertain significance
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546376
- GRCh38:
- Chr16:2496375
| TBC1D24 | D76G | Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1, Caused by mutation in the TBC1 domain family, member 24
| Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2547004
- GRCh38:
- Chr16:2497003
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1
| Likely benign
(Jan 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2548257
- GRCh38:
- Chr16:2498256
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1
| Likely benign
(Jun 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2549428
- GRCh38:
- Chr16:2499427
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1
| Likely benign
(Aug 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550472
- GRCh38:
- Chr16:2500471
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546236
- GRCh38:
- Chr16:2496235
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546503
- GRCh38:
- Chr16:2496502
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550255
- GRCh38:
- Chr16:2500254
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(May 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2549948
- GRCh38:
- Chr16:2499947
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546428
- GRCh38:
- Chr16:2496427
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2546549
- GRCh38:
- Chr16:2496548
| TBC1D24 | | not provided, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65,
Caused by mutation in the TBC1 domain family, member 24 | Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:2547743
- GRCh38:
- Chr16:2497742
| TBC1D24 | | Autosomal dominant nonsyndromic hearing loss 65, Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1
| Likely benign
(Dec 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2547747
- GRCh38:
- Chr16:2497746
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(Dec 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2550262
- GRCh38:
- Chr16:2500261
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2547125
- GRCh38:
- Chr16:2497124
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(Nov 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2549382
- GRCh38:
- Chr16:2499381
| TBC1D24 | | Caused by mutation in the TBC1 domain family, member 24, Developmental and epileptic encephalopathy, 1, Autosomal dominant nonsyndromic hearing loss 65
| Likely benign
(Nov 25, 2021) | criteria provided, single submitter |