| | | Single nucleotide variant (nonsense) | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive axonal neuropathy with neuromyotonia | GConflicting classifications of pathogenicity |
| | LOC100507346, PTCH1 (V602fs +4 more) | Deletion (non-coding transcript variant +1 more) | Gorlin syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital contractural arachnodactyly | |
| | | Indel (frameshift variant +1 more) | Beckwith-Wiedemann syndrome | |
| | | Deletion (frameshift variant) | Factor V deficiency | |
| | ALDH1A3, ALDH1A3-AS1 (G130R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Isolated anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Isolated anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (splice donor variant) | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 10 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I +2 more | |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 1 +2 more | GPathogenic/Likely pathogenic |