| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (nonsense) | Osteopathia striata with cranial sclerosis | |
| | | Deletion (frameshift variant) | Osteopathia striata with cranial sclerosis | |
| | | Single nucleotide variant (missense variant) | Osteopathia striata with cranial sclerosis | |
| | | Single nucleotide variant (missense variant) | Osteopathia striata with cranial sclerosis | |
| | | Single nucleotide variant (missense variant) | Osteopathia striata with cranial sclerosis | |
| | | Single nucleotide variant (nonsense) | Osteopathia striata with cranial sclerosis | |
| | | Single nucleotide variant (missense variant) | Osteopathia striata with cranial sclerosis | |
| | | Single nucleotide variant (missense variant) | Osteopathia striata with cranial sclerosis | |
| | | Single nucleotide variant (missense variant) | Osteopathia striata with cranial sclerosis | |
| | | Single nucleotide variant (nonsense) | Osteopathia striata with cranial sclerosis | |
| | | Deletion (frameshift variant) | Osteopathia striata with cranial sclerosis | |
| | | Deletion | Osteopathia striata with cranial sclerosis | |
| | | Single nucleotide variant (nonsense) | Osteopathia striata with cranial sclerosis | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
Click to view in NCBI Gene