| | | Single nucleotide variant (missense variant +1 more) | not provided +7 more | |
| | | Copy number loss | Scoliosis +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Macrocephaly +16 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Dolichocephaly +5 more | |
| | COL5A1, LOC101448202 (E1772K) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +7 more | |
| | | Single nucleotide variant (missense variant) | GDF3-related disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Craniosynostosis syndrome +10 more | |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia +6 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome and Noonan-related syndrome +11 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue dysplasia +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dolichocephaly +6 more | |
| | | Deletion (frameshift variant) | Pes planus +8 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Scoliosis | |
| | | Single nucleotide variant (missense variant) | Pelvic girdle muscle weakness +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Child syndrome +1 more | |