Links from MedGen
Items: 15
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Juvenile amyotrophic lateral sclerosis +1 more | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 11 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 11 | |
| | | Single nucleotide variant (missense variant) | Juvenile amyotrophic lateral sclerosis | |
| | | Single nucleotide variant (nonsense) | Juvenile amyotrophic lateral sclerosis | |
| | | Single nucleotide variant (nonsense) | Juvenile amyotrophic lateral sclerosis | |
| | | Single nucleotide variant (nonsense) | Juvenile amyotrophic lateral sclerosis | |
| | | Single nucleotide variant (missense variant +1 more) | Juvenile amyotrophic lateral sclerosis | |
| | | Single nucleotide variant (missense variant +2 more) | Juvenile amyotrophic lateral sclerosis | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 11 +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 11 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Juvenile amyotrophic lateral sclerosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene