Links from MedGen
Items: 6
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Oligodontia-cancer predisposition syndrome +1 more | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Colorectal carcinoma +1 more | |
| | | Single nucleotide variant (synonymous variant) | Colorectal carcinoma +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
Click to view in NCBI Gene