Links from MedGen
Items: 14
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital bile acid synthesis defect 3 | |
| | | Single nucleotide variant (missense variant) | Congenital bile acid synthesis defect 3 | |
| | | Single nucleotide variant (missense variant) | Congenital bile acid synthesis defect 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia +2 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | CYP7B1, LOC130000507 (S6C) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Duplication (frameshift variant +1 more) | Spastic paraplegia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital bile acid synthesis defect 3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 5A +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Spastic paraplegia +1 more | |
Click to view in NCBI Gene