Total 10 pathogenic variants reported for Early-onset generalized limb-onset dystonia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) SNV
Germline
Chr9:129818752 Conflicting classifications of pathogenicity Dystonia 1, torsion, late-onset
Condition: not provided
Early-onset generalized limb-onset dystonia
not specified
Dystonic disorder
Criteria Provided
Conflicting Classifications
CA117320 rs_267607134

11 SubmittersRCV000005491RCV000296896RCV000258917RCV000825647RCV000808573

NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln) SNV
Germline
Chr9:129814108 Conflicting classifications of pathogenicity Early-onset generalized limb-onset dystonia
Condition: not provided
Dystonic disorder
TOR1A-related disorder
Criteria Provided
Conflicting Classifications
CA273063 rs_727502811

6 SubmittersRCV000149874RCV001269843RCV003586144RCV004689627

NM_000113.3(TOR1A):c.361G>A (p.Glu121Lys) SNV
Germline
Chr9:129822664 Conflicting classifications of pathogenicity Early-onset generalized limb-onset dystonia
Condition: not provided
Dystonic disorder
Criteria Provided
Conflicting Classifications
CA5278699 rs_199535970

4 SubmittersRCV000258924RCV000487817RCV002059065

NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) SNV
Germline
Chr9:129814109 Pathogenic/Likely pathogenic Early-onset generalized limb-onset dystonia
Arthrogryposis multiplex congenita 5
Condition: not provided
Dystonic disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA5278519 rs_760768475

11 SubmittersRCV000677723RCV001250912RCV001592856RCV005091969

NM_000113.3(TOR1A):c.823A>G (p.Lys275Glu) SNV
Germline
Chr9:129814148 Conflicting classifications of pathogenicity Early-onset generalized limb-onset dystonia
Dystonic disorder
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5278526 rs_148036363

4 SubmittersRCV001167586RCV002064437RCV002538902RCV003169094

NM_000113.3(TOR1A):c.214C>T (p.Gln72Ter) SNV
Germline
Chr9:129822811 Pathogenic Early-onset generalized limb-onset dystonia Criteria Provided
Single Submitter
CA375177268 rs_2131007486

1 SubmittersRCV001647331

NM_000113.3(TOR1A):c.466C>T (p.Arg156Ter) SNV
Germline
Chr9:129818899 Conflicting classifications of pathogenicity Condition: not provided
Early-onset generalized limb-onset dystonia
Criteria Provided
Conflicting Classifications
CA375199366 rs_771740989

2 SubmittersRCV001763534RCV005860249

NM_000113.3(TOR1A):c.958A>G (p.Lys320Glu) SNV
Germline
Chr9:129814013 Pathogenic Early-onset generalized limb-onset dystonia Criteria Provided
Single Submitter
CA375197408 rs_2131001171

1 SubmittersRCV002246779

NM_000113.3(TOR1A):c.461G>A (p.Trp154Ter) SNV
Germline
Chr9:129818904 Pathogenic Early-onset generalized limb-onset dystonia Criteria Provided
Single Submitter
CA375199379 rs_2131004790

1 SubmittersRCV002246780