Total 9 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 Early-onset generalized limb-onset dystonia Condition: not provided Dystonic disorder not specified	Criteria Provided Conflicting Classifications	CA117320	rs_267607134	10 SubmittersRCV000005491 RCV000258917 RCV000296896 RCV000808573 RCV000825647
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 SubmittersRCV000149874 RCV001269843 RCV003586144 RCV004689627
NM_000113.3(TOR1A):c.361G>A (p.Glu121Lys)	SNV Germline	Chr9:129822664	Conflicting classifications of pathogenicity	Early-onset generalized limb-onset dystonia Dystonic disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5278699	rs_199535970	4 SubmittersRCV000258924 RCV002059065 RCV000487817
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)	SNV Germline	Chr9:129814109	Pathogenic/Likely pathogenic	Early-onset generalized limb-onset dystonia Condition: not provided Arthrogryposis multiplex congenita 5 Dystonic disorder	Criteria Provided Multiple Submitters No Conflicts	CA5278519	rs_760768475	10 SubmittersRCV000677723 RCV001592856 RCV001250912 RCV005091969
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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5278526	rs_148036363	4 SubmittersRCV001167586 RCV002064437 RCV003169094 RCV002538902
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.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