| - GRCh37:
- ChrX:100601558
- GRCh38:
- ChrX:101346570
| TIMM8A | Q75* | Deafness dystonia syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:100601600
- GRCh38:
- ChrX:101346612
| TIMM8A | A61fs | Deafness dystonia syndrome | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100600269-100602379
- GRCh38:
- ChrX:101345281-101347391
| TIMM8A | | Deafness dystonia syndrome | Pathogenic
(Nov 3, 2021) | no assertion criteria provided |
| - GRCh37:
- ChrX:100582860-100610076
| BTK, TIMM8A | | Deafness dystonia syndrome | Pathogenic
(Nov 3, 2021) | no assertion criteria provided |
| - GRCh37:
- ChrX:100580141-100619992
| BTK, TIMM8A | | Deafness dystonia syndrome | Pathogenic
(Nov 3, 2021) | no assertion criteria provided |
| - GRCh37:
- ChrX:100564340-100627836
| BTK, TIMM8A | | Deafness dystonia syndrome | Pathogenic
(Nov 3, 2021) | no assertion criteria provided |
| - GRCh37:
- ChrX:100601548-100601549
- GRCh38:
- ChrX:101346560-101346561
| TIMM8A | L78fs | Deafness dystonia syndrome | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:100603586-100603587
- GRCh38:
- ChrX:101348598-101348599
| TIMM8A | I23fs | Deafness dystonia syndrome | Pathogenic
(Jul 1, 2021) | no assertion criteria provided |
| - GRCh37:
- ChrX:100601463-100603745
| TIMM8A | | Deafness dystonia syndrome | Pathogenic
(Mar 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100603526
- GRCh38:
- ChrX:101348538
| TIMM8A | C43R | Inborn genetic diseases, Deafness dystonia syndrome | Likely pathogenic
(May 28, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100600981-100600982
- GRCh38:
- ChrX:101345993-101345994
| TIMM8A | | Deafness dystonia syndrome | Benign
(Feb 6, 2003) | no assertion criteria provided |
| - GRCh37:
- ChrX:100603541
- GRCh38:
- ChrX:101348553
| TIMM8A | Q38* | Deafness dystonia syndrome | not provided | no assertion provided |
| - GRCh37:
- ChrX:100603526
- GRCh38:
- ChrX:101348538
| TIMM8A | C43fs | Deafness dystonia syndrome | Pathogenic
(Feb 15, 2006) | no assertion criteria provided |
| - GRCh37:
- ChrX:100601671
- GRCh38:
- ChrX:101346683
| TIMM8A | | Deafness dystonia syndrome | Pathogenic
(Feb 1, 2005) | no assertion criteria provided |
| - GRCh37:
- ChrX:100601543
- GRCh38:
- ChrX:101346555
| TIMM8A | R80* | Deafness dystonia syndrome | Pathogenic
(Jun 1, 2001) | no assertion criteria provided |
| | TIMM8A | | Deafness dystonia syndrome | Pathogenic
(Mar 23, 2004) | no assertion criteria provided |
| - GRCh37:
- ChrX:100603580
- GRCh38:
- ChrX:101348592
| TIMM8A | | Deafness dystonia syndrome | Pathogenic
(Oct 1, 2001) | no assertion criteria provided |
| - GRCh37:
- ChrX:100601583
- GRCh38:
- ChrX:101346595
| TIMM8A | C66W | Deafness dystonia syndrome | Likely pathogenic
(Nov 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100603583
- GRCh38:
- ChrX:101348595
| TIMM8A | E24* | Deafness dystonia syndrome | Pathogenic
(Apr 20, 2016) | no assertion criteria provided |
| - GRCh37:
- ChrX:100601624-100601633
- GRCh38:
- ChrX:101346636-101346645
| TIMM8A | K50fs | Deafness dystonia syndrome | Pathogenic
(Oct 1, 1996) | no assertion criteria provided |
| - GRCh37:
- ChrX:100603537
- GRCh38:
- ChrX:101348549
| TIMM8A | M39fs | Deafness dystonia syndrome | Pathogenic
(Oct 1, 1996) | no assertion criteria provided |