| - GRCh37:
- Chr9:132576323
- GRCh38:
- Chr9:129814044
| TOR1A | K309N | Arthrogryposis multiplex congenita 5, Early-onset generalized limb-onset dystonia | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr9:132581183
- GRCh38:
- Chr9:129818904
| TOR1A | W154* | Early-onset generalized limb-onset dystonia | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132576292
- GRCh38:
- Chr9:129814013
| TOR1A | K320E | Early-onset generalized limb-onset dystonia | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132585090
- GRCh38:
- Chr9:129822811
| TOR1A | Q72* | Early-onset generalized limb-onset dystonia | Pathogenic
(Mar 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132581021
- GRCh38:
- Chr9:129818742
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Oct 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575419
- GRCh38:
- Chr9:129813140
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575372
- GRCh38:
- Chr9:129813093
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575321
- GRCh38:
- Chr9:129813042
| TOR1A | | Early-onset generalized limb-onset dystonia | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132584935
- GRCh38:
- Chr9:129822656
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132580840
- GRCh38:
- Chr9:129818561
| TOR1A | I236T | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132580789
- GRCh38:
- Chr9:129818510
| TOR1A | | Dystonic disorder, Early-onset generalized limb-onset dystonia | Likely benign
(Nov 1, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:132575303
- GRCh38:
- Chr9:129813024
| TOR1A | | Early-onset generalized limb-onset dystonia | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575254
- GRCh38:
- Chr9:129812975
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132576288
- GRCh38:
- Chr9:129814009
| TOR1A | T321M | not provided, Early-onset generalized limb-onset dystonia | Uncertain significance
(Nov 13, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:132576143
- GRCh38:
- Chr9:129813864
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132576086
- GRCh38:
- Chr9:129813807
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132576058
- GRCh38:
- Chr9:129813779
| TOR1A | | Early-onset generalized limb-onset dystonia | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132576050
- GRCh38:
- Chr9:129813771
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132581138
- GRCh38:
- Chr9:129818859
| TOR1A | F169S | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132581083
- GRCh38:
- Chr9:129818804
| TOR1A | | Dystonic disorder, Early-onset generalized limb-onset dystonia, not provided
| Benign/Likely benign
(Sep 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:132576427
- GRCh38:
- Chr9:129814148
| TOR1A | K275E | Dystonic disorder, not provided, Early-onset generalized limb-onset dystonia,
Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:132576388
- GRCh38:
- Chr9:129814109
| TOR1A | R288* | Arthrogryposis multiplex congenita 5, not provided, Early-onset generalized limb-onset dystonia,
Intellectual disability, autosomal dominant 43, See cases | Pathogenic/Likely pathogenic
(Nov 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:132581156
- GRCh38:
- Chr9:129818877
| TOR1A | A163V | Dystonic disorder, Early-onset generalized limb-onset dystonia | Benign/Likely benign
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:132586416
- GRCh38:
- Chr9:129824137
| TOR1A | | not provided, Early-onset generalized limb-onset dystonia | Benign/Likely benign
(Jul 17, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:132586400
- GRCh38:
- Chr9:129824121
| TOR1A | | Early-onset generalized limb-onset dystonia | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132586395
- GRCh38:
- Chr9:129824116
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132586368
- GRCh38:
- Chr9:129824089
| TOR1A | | not provided, Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:132586339
- GRCh38:
- Chr9:129824060
| TOR1A | G9A | Dystonic disorder, Early-onset generalized limb-onset dystonia | Benign/Likely benign
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:132585004
- GRCh38:
- Chr9:129822725
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132576139
- GRCh38:
- Chr9:129813860
| TOR1A | | Early-onset generalized limb-onset dystonia | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132576102
- GRCh38:
- Chr9:129813823
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132576086
- GRCh38:
- Chr9:129813807
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132576060
- GRCh38:
- Chr9:129813781
| TOR1A | | Dystonic disorder, not provided, Early-onset generalized limb-onset dystonia
| Benign
(Dec 7, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:132576037
- GRCh38:
- Chr9:129813758
| TOR1A | | not provided, Early-onset generalized limb-onset dystonia | Benign
(Aug 26, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:132576035
- GRCh38:
- Chr9:129813756
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575906
- GRCh38:
- Chr9:129813627
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575837
- GRCh38:
- Chr9:129813558
| TOR1A | | Early-onset generalized limb-onset dystonia | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575837
- GRCh38:
- Chr9:129813558
| TOR1A | | Early-onset generalized limb-onset dystonia | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575835
- GRCh38:
- Chr9:129813556
| TOR1A | | Early-onset generalized limb-onset dystonia | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575835-132575836
- GRCh38:
- Chr9:129813556-129813557
| TOR1A | | Early-onset generalized limb-onset dystonia | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575828
- GRCh38:
- Chr9:129813549
| TOR1A | | Early-onset generalized limb-onset dystonia | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575797
- GRCh38:
- Chr9:129813518
| TOR1A | | Early-onset generalized limb-onset dystonia | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575628
- GRCh38:
- Chr9:129813349
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575466
- GRCh38:
- Chr9:129813187
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575439
- GRCh38:
- Chr9:129813160
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575427
- GRCh38:
- Chr9:129813148
| TOR1A | | Early-onset generalized limb-onset dystonia | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575420
- GRCh38:
- Chr9:129813141
| TOR1A | | Early-onset generalized limb-onset dystonia | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575351-132575353
- GRCh38:
- Chr9:129813072-129813074
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575317
- GRCh38:
- Chr9:129813038
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575290
- GRCh38:
- Chr9:129813011
| TOR1A | | Early-onset generalized limb-onset dystonia | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575249
- GRCh38:
- Chr9:129812970
| TOR1A | | Early-onset generalized limb-onset dystonia | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132575241
- GRCh38:
- Chr9:129812962
| TOR1A | | Early-onset generalized limb-onset dystonia | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132581063
- GRCh38:
- Chr9:129818784
| TOR1A | D194V | Early-onset generalized limb-onset dystonia | not provided | no assertion provided |
| - GRCh37:
- Chr9:132584919
- GRCh38:
- Chr9:129822640
| TOR1A | V129I | Arthrogryposis multiplex congenita 5, Early-onset generalized limb-onset dystonia | Uncertain significance
(Aug 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132584943
- GRCh38:
- Chr9:129822664
| TOR1A | E121K | Dystonic disorder, not provided | Conflicting interpretations of pathogenicity
(Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:132586320-132586325
- GRCh38:
- Chr9:129824041-129824046
| TOR1A | | Early-onset generalized limb-onset dystonia | not provided | no assertion provided |
| - GRCh37:
- Chr9:132576512
- GRCh38:
- Chr9:129814233
| TOR1A | | Dystonic disorder, not specified, not provided,
Early-onset generalized limb-onset dystonia | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:132585058
- GRCh38:
- Chr9:129822779
| TOR1A | | Dystonic disorder, not specified, not provided,
Early-onset generalized limb-onset dystonia | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:132576387
- GRCh38:
- Chr9:129814108
| TOR1A | R288Q | not provided | Pathogenic
(Oct 21, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr9:132576313-132576316
- GRCh38:
- Chr9:129814034-129814037
| TOR1A | R312fs | Early-onset generalized limb-onset dystonia | not provided | no assertion provided |
| - GRCh37:
- Chr9:132581031
- GRCh38:
- Chr9:129818752
| TOR1A | F205I | Dystonic disorder, not specified, not provided,
Early-onset generalized limb-onset dystonia | Conflicting interpretations of pathogenicity
(Feb 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:132580901
- GRCh38:
- Chr9:129818622
| TOR1A | D216H | Dystonic disorder, not specified, not provided,
Early-onset generalized limb-onset dystonia, Early-onset generalized limb-onset dystonia, Arthrogryposis multiplex congenita 5
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:132576267-132576284
- GRCh38:
- Chr9:129813988-129814005
| TOR1A | | Dystonia, early-onset atypical, with myoclonic features | Uncertain significance
(Nov 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr9:132576341-132576343
- GRCh38:
- Chr9:129814062-129814064
| TOR1A | E303del | Inborn genetic diseases, Dystonic disorder, not provided,
Early-onset generalized limb-onset dystonia, Early-onset generalized limb-onset dystonia, Arthrogryposis multiplex congenita 5
| Pathogenic/Likely pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |