| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +3 more | GConflicting classifications of pathogenicity |
| | | 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 (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Biotinidase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Isolated congenital hypogonadotropic hypogonadism +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Indel | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion +2 more) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive osteopetrosis 8 +1 more | GPathogenic/Likely pathogenic |
| | LOC126860125, AP1S1 (Q74*) | Single nucleotide variant (nonsense) | MEDNIK syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | MEDNIK syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Primary ciliary dyskinesia 19 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | GPIHBP1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive hypophosphatemic bone disease +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Albinism or congenital nystagmus +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypertelorism +6 more | GConflicting classifications of pathogenicity |
| | | 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 (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ATP7B-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Ocular albinism +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Recurrent fever +24 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | lethal neurodevelopmental disorder | |
| | | Duplication (frameshift variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Glycogen storage disease, type II | |
| | ADAT3, SCAMP4 (V144M +1 more) | Single nucleotide variant (missense variant +1 more) | Intellectual disability-strabismus syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Lamellar ichthyosis +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Prolidase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Xeroderma pigmentosum, group D +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Insertion (nonsense) | Nemaline myopathy 5 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not specified +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Classic homocystinuria +7 more | |
| | | Deletion (frameshift variant) | Cataract 17 +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | SGSM3-related intellectual disability +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |