Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Arthrogryposis multiplex congenita 5 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita 5 | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder +2 more | |
| | | Deletion (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita 5 | |
| | | Single nucleotide variant (nonsense) | Arthrogryposis multiplex congenita 5 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Early-onset generalized limb-onset dystonia +4 more | |
| | | Microsatellite (inframe_deletion) | TOR1A-related condition +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene