| - GRCh37:
- Chr10:102750760-102750763
- GRCh38:
- Chr10:100991003-100991006
| TWNK | A123fs, A577fs | Infantile onset spinocerebellar ataxia | Pathogenic
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753170
- GRCh38:
- Chr10:100993413
| TWNK | S199F, S653F | not provided, Perrault syndrome 5, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Infantile onset spinocerebellar ataxia | Uncertain significance
(May 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102749157
- GRCh38:
- Chr10:100989400
| TWNK | D397G | Perrault syndrome 5, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Infantile onset spinocerebellar ataxia, not provided | Uncertain significance
(Jan 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:3189441-3189442
- GRCh38:
- Chr10:3147249-3147250
| PITRM1, PITRM1-AS1 | | Infantile onset spinocerebellar ataxia | Pathogenic
(May 27, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr10:102749453
- GRCh38:
- Chr10:100989696
| TWNK | L432F | Infantile onset spinocerebellar ataxia | Uncertain significance
(May 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753217
- GRCh38:
- Chr10:100993460
| TWNK | G215S, G669S | not provided, Infantile onset spinocerebellar ataxia | Uncertain significance
(Jun 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102753720
- GRCh38:
- Chr10:100993963
| TWNK | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102748880
- GRCh38:
- Chr10:100989123
| TWNK | V305I | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia,
Autosomal recessive cerebellar ataxia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102747384
- GRCh38:
- Chr10:100987627
| TWNK | | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia,
Autosomal recessive cerebellar ataxia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753828
- GRCh38:
- Chr10:100994071
| TWNK | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102750630
- GRCh38:
- Chr10:100990873
| TWNK | A79T, A533T | not provided, Infantile onset spinocerebellar ataxia, Perrault syndrome 5,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Conflicting interpretations of pathogenicity
(Jun 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102748639
- GRCh38:
- Chr10:100988882
| TWNK | | Autosomal recessive cerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Infantile onset spinocerebellar ataxia, not provided | Conflicting interpretations of pathogenicity
(Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102754036
- GRCh38:
- Chr10:100994279
| TWNK | | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753819
- GRCh38:
- Chr10:100994062
| TWNK | | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753613
- GRCh38:
- Chr10:100993856
| TWNK | | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753608
- GRCh38:
- Chr10:100993851
| TWNK | | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753165
- GRCh38:
- Chr10:100993408
| TWNK | | Infantile onset spinocerebellar ataxia, not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal recessive cerebellar ataxia | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102753118
- GRCh38:
- Chr10:100993361
| TWNK | A182T, A636T | not provided, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia | Uncertain significance
(Aug 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102748563
- GRCh38:
- Chr10:100988806
| TWNK | R199Q | not provided, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia | Uncertain significance
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102747376
- GRCh38:
- Chr10:100987619
| TWNK | | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Perrault syndrome 5,
Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia | Uncertain significance
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102753515
- GRCh38:
- Chr10:100993758
| TWNK | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753038
- GRCh38:
- Chr10:100993281
| TWNK | R155L, R609L | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Autosomal recessive cerebellar ataxia | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102750280
- GRCh38:
- Chr10:100990523
| TWNK | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Autosomal recessive cerebellar ataxia | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102747664
- GRCh38:
- Chr10:100987907
| TWNK | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102747550
- GRCh38:
- Chr10:100987793
| TWNK | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102747346
- GRCh38:
- Chr10:100987589
| TWNK | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102748013
- GRCh38:
- Chr10:100988256
| TWNK | L17fs | Infantile onset spinocerebellar ataxia | Pathogenic
(Jul 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102749471
- GRCh38:
- Chr10:100989714
| TWNK | N438K | Infantile onset spinocerebellar ataxia | Likely pathogenic
(Jul 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102750661
- GRCh38:
- Chr10:100990904
| TWNK | R543Q, R89Q | not provided, Infantile onset spinocerebellar ataxia | Conflicting interpretations of pathogenicity
(May 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102749166
- GRCh38:
- Chr10:100989409
| TWNK | R400L | Infantile onset spinocerebellar ataxia | Likely pathogenic
(Jul 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102748760
- GRCh38:
- Chr10:100989003
| TWNK | R265C | not provided, Mitochondrial disease, TWNK-related condition,
Perrault syndrome 5, Infantile onset spinocerebellar ataxia | Conflicting interpretations of pathogenicity
(Jun 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102749598
- GRCh38:
- Chr10:100989841
| TWNK | L481V, L27V | Infantile onset spinocerebellar ataxia | Likely pathogenic
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102749037
- GRCh38:
- Chr10:100989280
| TWNK | R357P | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Autosomal recessive cerebellar ataxia, not provided | Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102749387
- GRCh38:
- Chr10:100989630
| TWNK | | Autosomal recessive cerebellar ataxia, not specified, Infantile onset spinocerebellar ataxia,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Conflicting interpretations of pathogenicity
(Mar 23, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102748023
- GRCh38:
- Chr10:100988266
| TWNK | G19E | Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia, not provided,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102750642
- GRCh38:
- Chr10:100990885
| TWNK | Y537H, Y83H | not provided, TWNK-related condition, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Hereditary spastic paraplegia | Conflicting interpretations of pathogenicity
(Oct 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102754033
- GRCh38:
- Chr10:100994276
| TWNK | | Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102754030
- GRCh38:
- Chr10:100994273
| TWNK | | Autosomal recessive cerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Infantile onset spinocerebellar ataxia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102754014
- GRCh38:
- Chr10:100994257
| TWNK | | Autosomal recessive cerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Infantile onset spinocerebellar ataxia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753976
- GRCh38:
- Chr10:100994219
| TWNK | | Autosomal recessive cerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Infantile onset spinocerebellar ataxia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753886
- GRCh38:
- Chr10:100994129
| TWNK | | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753841
- GRCh38:
- Chr10:100994084
| TWNK | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753822
- GRCh38:
- Chr10:100994065
| TWNK | | Autosomal recessive cerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753788
- GRCh38:
- Chr10:100994031
| TWNK | | Autosomal recessive cerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, not provided,
Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Benign
(May 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102753722
- GRCh38:
- Chr10:100993965
| TWNK | | not provided, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | Benign/Likely benign
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102753705
- GRCh38:
- Chr10:100993948
| TWNK | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753686
- GRCh38:
- Chr10:100993929
| TWNK | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102753634
- GRCh38:
- Chr10:100993877
| TWNK | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753568
- GRCh38:
- Chr10:100993811
| TWNK | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102753501
- GRCh38:
- Chr10:100993744
| TWNK | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102753471
- GRCh38:
- Chr10:100993714
| TWNK | | Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Autosomal recessive cerebellar ataxia, not provided, Hereditary spastic paraplegia
| Conflicting interpretations of pathogenicity
(Jun 29, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102753065
- GRCh38:
- Chr10:100993308
| TWNK | P618L, P164L | Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Autosomal recessive cerebellar ataxia, not provided | Uncertain significance
(Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102750235
- GRCh38:
- Chr10:100990478
| TWNK | | Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal recessive cerebellar ataxia,
not provided, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Benign/Likely benign
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102750196
- GRCh38:
- Chr10:100990439
| TWNK | | not provided, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia | Conflicting interpretations of pathogenicity
(May 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102749068
- GRCh38:
- Chr10:100989311
| TWNK | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal recessive cerebellar ataxia,
not provided, Hereditary spastic paraplegia, Infantile onset spinocerebellar ataxia
| Conflicting interpretations of pathogenicity
(Jun 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102749009
- GRCh38:
- Chr10:100989252
| TWNK | G348R | Autosomal recessive cerebellar ataxia, not provided, Infantile onset spinocerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | Conflicting interpretations of pathogenicity
(Oct 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102748889
- GRCh38:
- Chr10:100989132
| TWNK | | Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Autosomal recessive cerebellar ataxia, not provided | Conflicting interpretations of pathogenicity
(Apr 17, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102748459
- GRCh38:
- Chr10:100988702
| TWNK | | Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, not provided | Conflicting interpretations of pathogenicity
(Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102748243
- GRCh38:
- Chr10:100988486
| TWNK | | Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Autosomal recessive cerebellar ataxia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102748044
- GRCh38:
- Chr10:100988287
| TWNK | G26V | Autosomal recessive cerebellar ataxia, not provided, Infantile onset spinocerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | Uncertain significance
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102748043
- GRCh38:
- Chr10:100988286
| TWNK | G26S | not provided, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia | Conflicting interpretations of pathogenicity
(Jul 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102747727
- GRCh38:
- Chr10:100987970
| TWNK | | Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Autosomal recessive cerebellar ataxia, not provided | Likely benign
(Dec 5, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102747678
- GRCh38:
- Chr10:100987921
| TWNK | | Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Autosomal recessive cerebellar ataxia | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102747545
- GRCh38:
- Chr10:100987788
| TWNK | | Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Autosomal recessive cerebellar ataxia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102747498
- GRCh38:
- Chr10:100987741
| TWNK | | Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Autosomal recessive cerebellar ataxia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102747419
- GRCh38:
- Chr10:100987662
| TWNK | | Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Autosomal recessive cerebellar ataxia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102747383
- GRCh38:
- Chr10:100987626
| TWNK | | Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Autosomal recessive cerebellar ataxia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102747324
- GRCh38:
- Chr10:100987567
| TWNK | | Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Autosomal recessive cerebellar ataxia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102747318
- GRCh38:
- Chr10:100987561
| TWNK | | not provided, Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | Conflicting interpretations of pathogenicity
(Apr 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102748351
- GRCh38:
- Chr10:100988594
| TWNK | | not provided, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal recessive cerebellar ataxia,
Hereditary spastic paraplegia, Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
| Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102753262
- GRCh38:
- Chr10:100993505
| TWNK | K684Q, K230Q | Hereditary spastic paraplegia, not provided, Ataxia Neuropathy Spectrum Disorders,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia | Conflicting interpretations of pathogenicity
(Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102748208
- GRCh38:
- Chr10:100988451
| TWNK | L81V | Autosomal recessive cerebellar ataxia, Hereditary spastic paraplegia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
not provided, Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
| Conflicting interpretations of pathogenicity
(Jul 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102748871
- GRCh38:
- Chr10:100989114
| TWNK | R302W | not specified, not provided | Uncertain significance
(Jun 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102748298
- GRCh38:
- Chr10:100988541
| TWNK | L112fs | Infantile onset spinocerebellar ataxia | Pathogenic
(Mar 20, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr10:102749163
- GRCh38:
- Chr10:100989406
| TWNK | N399S | not provided, Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102753257
- GRCh38:
- Chr10:100993500
| TWNK | R682H, R228H | Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Hereditary spastic paraplegia, not provided
| Conflicting interpretations of pathogenicity
(Aug 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102753187
- GRCh38:
- Chr10:100993430
| TWNK | A659T, A205T | not provided, Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Infantile onset spinocerebellar ataxia, Perrault syndrome 5,
Autosomal recessive cerebellar ataxia | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102750730
- GRCh38:
- Chr10:100990973
| TWNK | K566R, K112R | not specified, Infantile onset spinocerebellar ataxia, not provided,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal recessive cerebellar ataxia
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102749139
- GRCh38:
- Chr10:100989382
| TWNK | R391H | Autosomal recessive cerebellar ataxia, not provided, Infantile onset spinocerebellar ataxia,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102752933
- GRCh38:
- Chr10:100993176
| TWNK | | Autosomal recessive cerebellar ataxia, not specified, not provided,
Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
| Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102747363
- GRCh38:
- Chr10:100987606
| TWNK | | Autosomal recessive cerebellar ataxia, not specified, Infantile onset spinocerebellar ataxia,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Benign
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102750623
- GRCh38:
- Chr10:100990866
| TWNK | | Autosomal recessive cerebellar ataxia, not specified, not provided,
Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102750621
- GRCh38:
- Chr10:100990864
| TWNK | | Autosomal recessive cerebellar ataxia, not specified, not provided,
Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102749069
- GRCh38:
- Chr10:100989312
| TWNK | V368I | Autosomal recessive cerebellar ataxia, not specified, not provided,
Hereditary spastic paraplegia, Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102748606
- GRCh38:
- Chr10:100988849
| TWNK | | Autosomal recessive cerebellar ataxia, not specified, not provided,
Hereditary spastic paraplegia, Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102748214
- GRCh38:
- Chr10:100988457
| TWNK | P83S | not provided | Uncertain significance
(Jan 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102749544
- GRCh38:
- Chr10:100989787
| TWNK | R463W, R9W | not provided, Infantile onset spinocerebellar ataxia | Conflicting interpretations of pathogenicity
(Feb 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:102749523
- GRCh38:
- Chr10:100989766
| TWNK | L456V, L2V | TWNK-related condition, not provided | Uncertain significance
(Aug 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102749444
- GRCh38:
- Chr10:100989687
| TWNK | | Infantile onset spinocerebellar ataxia | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102748919
- GRCh38:
- Chr10:100989162
| TWNK | A318T | See cases | Pathogenic
(Aug 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102750231
- GRCh38:
- Chr10:100990474
| TWNK | Y508C, Y54C | not provided, Infantile onset spinocerebellar ataxia | Pathogenic/Likely pathogenic
(May 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102749527
- GRCh38:
- Chr10:100989770
| TWNK | T457I, T3I | Infantile onset spinocerebellar ataxia | Pathogenic
(Dec 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr10:102748968
- GRCh38:
- Chr10:100989211
| TWNK | R334Q | not provided, Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
| Pathogenic/Likely pathogenic
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:102749579
- GRCh38:
- Chr10:100989822
| TWNK | W474*, W20* | Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3,
Perrault syndrome 5 | Likely pathogenic
(Jan 21, 2022) | criteria provided, single submitter |