| | | Single nucleotide variant (missense variant) | Cryptorchidism | |
| | | | Familial Mediterranean fever | |
| | | Single nucleotide variant (synonymous variant) | Cryptorchidism +1 more | |
| | | Single nucleotide variant (missense variant) | Cryptorchidism +1 more | |
| | | Copy number loss | Cryptorchidism +1 more | |
| | | Copy number gain | Cryptorchidism +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental cataract +17 more | |
| | | Deletion (inframe_deletion +1 more) | Cryptorchidism +7 more | |
| | | Single nucleotide variant (intron variant) | Triphalangeal thumb +19 more | |
| | | Duplication (frameshift variant) | Cryptorchidism +17 more | |
| | | Single nucleotide variant (nonsense +1 more) | See cases +20 more | |
| | | Single nucleotide variant (splice acceptor variant) | See cases +8 more | |
| | | Single nucleotide variant (missense variant) | Cryptorchidism +9 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Hypotonia +7 more | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Deletion (nonsense) | Cornelia de Lange syndrome 1 +9 more | |
| | | Deletion (frameshift variant) | Biotinidase deficiency | |
| | | Deletion (inframe_deletion) | Macrocephaly +10 more | GPathogenic/Likely pathogenic |
| | | Translocation | Lumbar hypertrichosis +12 more | |
| | | Translocation | Cryptorchidism +13 more | |
| | | Inversion | Motor delay +8 more | |
| | | Complex | Growth delay +14 more | |
| | | Translocation | Cryptorchidism +10 more | |
| | | Translocation | Nystagmus +7 more | |
| | | Single nucleotide variant (nonsense) | Hypertelorism +9 more | |
| | | Single nucleotide variant (missense variant) | Lissencephaly due to TUBA1A mutation +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Sotos syndrome +19 more | |
| | | Single nucleotide variant (missense variant) | Cryptorchidism +13 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | SOX3-related condition +28 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Cryptorchidism | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cryptorchidism | |
| | | Single nucleotide variant (missense variant) | Cryptorchidism | |
| | | Single nucleotide variant (missense variant) | Cryptorchidism | |
| | | Single nucleotide variant (nonsense) | Microcephaly +9 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Acute febrile neutrophilic dermatosis +24 more | GPathogenic/Likely pathogenic |