| | | Single nucleotide variant (missense variant) | Retinal dystrophy +12 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | GBA1, LOC106627981 (R535H +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +9 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +12 more | GPathogenic/Likely pathogenic; risk factor |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormal facial shape +2 more | |
| | | Single nucleotide variant (missense variant) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +4 more | |
| | EXOSC8, LOC130009581 (F5L) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 1C +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Ocular albinism +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not specified +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | X-linked severe combined immunodeficiency | |