ClinVar for MedGen (Select 1731112) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24459821.	NM_000113.3(TOR1A):c.844C>T (p.Arg282Ter) GRCh37: Chr9:132576406 GRCh38: Chr9:129814127	TOR1A	R282*	Arthrogryposis multiplex congenita 5	Likely pathogenic (Jun 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22423402.	NM_000113.3(TOR1A):c.304G>A (p.Gly102Arg) GRCh37: Chr9:132585000 GRCh38: Chr9:129822721	TOR1A	G102R	Arthrogryposis multiplex congenita 5, Inborn genetic diseases	Uncertain significance (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 16944493.	NM_000113.3(TOR1A):c.927A>C (p.Lys309Asn) GRCh37: Chr9:132576323 GRCh38: Chr9:129814044	TOR1A	K309N	Arthrogryposis multiplex congenita 5, Early-onset generalized limb-onset dystonia	Likely benign	criteria provided, single submitter
Select item 16837214.	NM_000113.3(TOR1A):c.20T>G (p.Val7Gly) GRCh37: Chr9:132586345 GRCh38: Chr9:129824066	LOC130002772, TOR1A	V7G	Arthrogryposis multiplex congenita 5	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 12125055.	NM_000113.3(TOR1A):c.719T>C (p.Leu240Ser) GRCh37: Chr9:132580828 GRCh38: Chr9:129818549	TOR1A	L240S	Arthrogryposis multiplex congenita 5, not provided	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9746806.	NM_000113.3(TOR1A):c.961del (p.Thr321fs) GRCh37: Chr9:132576289 GRCh38: Chr9:129814010	TOR1A	T321fs	Inborn genetic diseases	Likely pathogenic (May 21, 2019)	criteria provided, single submitter
Select item 9746797.	NM_000113.3(TOR1A):c.952G>A (p.Gly318Ser) GRCh37: Chr9:132576298 GRCh38: Chr9:129814019	TOR1A	G318S	Arthrogryposis multiplex congenita 5	Pathogenic (Jul 31, 2020)	no assertion criteria provided
Select item 5599278.	NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) GRCh37: Chr9:132576388 GRCh38: Chr9:129814109	TOR1A	R288*	Arthrogryposis multiplex congenita 5, not provided, Early-onset generalized limb-onset dystonia	Pathogenic/Likely pathogenic (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 2682149.	NM_000113.3(TOR1A):c.385G>A (p.Val129Ile) 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
Select item 518210.	NM_000113.3(TOR1A):c.646G>C (p.Asp216His) GRCh37: Chr9:132580901 GRCh38: Chr9:129818622	TOR1A	D216H	Dystonic disorder, not specified, not provided, Early-onset generalized limb-onset dystonia, Arthrogryposis multiplex congenita 5, Early-onset generalized limb-onset dystonia	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 518011.	NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) GRCh37: Chr9:132576341-132576343 GRCh38: Chr9:129814062-129814064	TOR1A	E303del	TOR1A-related disorders, TOR1A-related condition, Inborn genetic diseases, Dystonic disorder, not provided, Early-onset generalized limb-onset dystonia, Arthrogryposis multiplex congenita 5, Early-onset generalized limb-onset dystonia	Pathogenic/Likely pathogenic (Jun 28, 2023)	criteria provided, multiple submitters, no conflicts