| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | GBA1, LOC106627981 (L483P +5 more) | Single nucleotide variant (missense variant +1 more) | Parkinson disease, late-onset +1 more | |
| | GBA1, LOC106627981 (L483P +2 more) | Single nucleotide variant (missense variant) | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | CENPP, ECM2 (L466P +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Mosaic variegated aneuploidy syndrome 2 | |
| | FOXM1, ITFG2 (L203P +14 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | |
| | | Single nucleotide variant (missense variant) | Tuberous sclerosis 2 | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |