| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +3 more) | Microcephaly-capillary malformation syndrome +1 more | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Microcephaly-capillary malformation syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
Click to view in NCBI Gene