Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | Anauxetic dysplasia 2 | |
| | | Single nucleotide variant (missense variant) | Anauxetic dysplasia 2 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Anauxetic dysplasia 2 | |
| | | Deletion (frameshift variant) | Anauxetic dysplasia 2 | |
| | | Single nucleotide variant (missense variant) | Anauxetic dysplasia 2 | |
| | | Single nucleotide variant (missense variant) | Anauxetic dysplasia 2 | |
| | | Single nucleotide variant (missense variant) | Anauxetic dysplasia 2 | |
Click to view in NCBI Gene