ID | Mutation | Lesions at Presentation | New Lesions During Follow-Up | ||||||
---|---|---|---|---|---|---|---|---|---|
Cystic Visceral | Other Visceral | CNS | Ocular | Cystic Visceral | Other Visceral | CNS | Ocular | ||
1 | MissenseExon 1 | Epididymal cystadenoma | Renal cyst | 2 x Right peripheral RCH | |||||
2 | Missense (variant) | Renal cyst | Bilateral PCC | ||||||
3 | Deletion Exons 1 - 3 | Spinal cord HGB | Pancreatic cyst | Cerebellar HGB | |||||
4 | Deletion Exon 3 | Spinal cord HGB | Renal cyst | Cerebellar HGB | |||||
5 | Deletion Exons 1-3 | Cerebellar HGB | Pancreatic cyst Renal cyst | ||||||
6 | Deletion Exon 2 | Right peripheral RCH | Pancreatic cyst | Spinal cord HGB |