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Items: 10

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:132576267-132576284
GRCh38:
Chr9:129813988-129814005
TOR1ADystonia 1, Dystonia, early-onset atypical, with myoclonic featuresUncertain significance
(Nov 17, 2016)
no assertion criteria provided
2.
GRCh37:
Chr9:132576313-132576316
GRCh38:
Chr9:129814034-129814037
TOR1ADystonia 1Uncertain significance
(Nov 17, 2016)
no assertion criteria provided
3.
GRCh37:
Chr9:132576341-132576343
GRCh38:
Chr9:129814062-129814064
TOR1ADystonia 1, not provided, Dystonia
Pathogenic
(Dec 8, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr9:132576387
GRCh38:
Chr9:129814108
TOR1ADystonia 1Conflicting interpretations of pathogenicity
(Nov 17, 2016)
no assertion criteria provided
5.
GRCh37:
Chr9:132580901
GRCh38:
Chr9:129818622
TOR1ADystonia 1, Dystonia 1, torsion, modifier of, not specified
Benign/Likely benign, protective, risk factor
(Nov 17, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr9:132581031
GRCh38:
Chr9:129818752
TOR1ADystonia 1, Dystonia 1, torsion, late-onset, not provided
Conflicting interpretations of pathogenicity
(Sep 19, 2017)
criteria provided, conflicting interpretations
7.
GRCh37:
Chr9:132581063
GRCh38:
Chr9:129818784
TOR1ADystonia 1Uncertain significance
(Nov 17, 2016)
no assertion criteria provided
8.
GRCh37:
Chr9:132584919
GRCh38:
Chr9:129822640
TOR1ADystonia 1Uncertain significance
(Nov 17, 2016)
no assertion criteria provided
9.
GRCh37:
Chr9:132584943
GRCh38:
Chr9:129822664
TOR1ADystonia 1, not providedUncertain significance
(Jun 30, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr9:132586320-132586325
GRCh38:
Chr9:129824041-129824046
TOR1ADystonia 1Uncertain significance
(Nov 17, 2016)
no assertion criteria provided
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