Links from MedGen
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | Mosaic variegated aneuploidy syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Mosaic variegated aneuploidy syndrome 3 | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Deletion (intron variant) | Oocyte maturation defect 9 +2 more | |
| | | Single nucleotide variant (missense variant) | Mosaic variegated aneuploidy syndrome 3 | |
| | | Single nucleotide variant (splice acceptor variant) | Mosaic variegated aneuploidy syndrome 3 | |
| | | Single nucleotide variant (nonsense) | Mosaic variegated aneuploidy syndrome 3 | |
Click to view in NCBI Gene