| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +3 more) | STAMBP-related condition +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly-capillary malformation syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
Click to view in NCBI Gene