| | | Deletion (inframe_deletion +1 more) | Myopia +7 more | |
| | | Duplication (frameshift variant +1 more) | Short metacarpal +6 more | |
| | | Single nucleotide variant (missense variant) | Hypertensive disorder +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hematuria +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive sensorineural hearing impairment +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Dolichocephaly +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 56 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myopia +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Foveal hypoplasia +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Ocular albinism +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Myopia +1 more | |
| | | Single nucleotide variant (missense variant) | Dolichocephaly +6 more | |
| | | Deletion (frameshift variant) | Pes planus +8 more | |
| | | Single nucleotide variant (missense variant) | Lens subluxation +3 more | |
| | | Deletion (frameshift variant) | Myopia +4 more | |
| | NDE1, MYH11 (D1461H +1 more) | Single nucleotide variant (missense variant +1 more) | Mitral regurgitation +4 more | |
| | | Single nucleotide variant (missense variant) | Joint hypermobility +9 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +9 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 1 +8 more | |
| | | Copy number loss | Brachydactyly +14 more | |
| | | Single nucleotide variant (intron variant) | Menke-Hennekam syndrome 2 +7 more | |
| | | Single nucleotide variant (nonsense) | Congenital stationary night blindness 2A | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, moderate +6 more | |