Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (frameshift variant) | Holoprosencephaly 13, X-linked +1 more | |
| | | Deletion (frameshift variant) | Holoprosencephaly 13, X-linked | |
| | | Single nucleotide variant (synonymous variant) | Holoprosencephaly 13, X-linked | |
| | | Single nucleotide variant (intron variant) | Mullegama-Klein-Martinez syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Mullegama-Klein-Martinez syndrome +3 more | |
| | | Deletion (splice donor variant) | Holoprosencephaly 13, X-linked | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Deletion (intron variant) | Holoprosencephaly 13, X-linked +1 more | |
| | | Single nucleotide variant (nonsense) | Holoprosencephaly 13, X-linked | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Holoprosencephaly 13, X-linked +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mullegama-Klein-Martinez syndrome +4 more | |
Click to view in NCBI Gene