Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Seckel syndrome 10 +1 more | |
| | | Single nucleotide variant (intron variant) | Seckel syndrome 10 +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Seckel syndrome 10 | |
| | | Deletion (frameshift variant +1 more) | not provided | |
Click to view in NCBI Gene