Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (genic upstream transcript variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Sterol carrier protein 2 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Sterol carrier protein 2 deficiency | |
| | | Deletion (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Sterol carrier protein 2 deficiency | |
| | | Single nucleotide variant (splice donor variant) | SCP2-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided | |
Click to view in NCBI Gene