| | | Single nucleotide variant (missense variant) | Reduced bone mineral density +4 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia +6 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly +4 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly +4 more | |
| | LINC01922, LINC01927 +279 more | Deletion | Nystagmus +10 more | |
| | LOC130060199, LOC130060200 +14 more | Deletion (genic upstream transcript variant) | Intellectual disability +29 more | |
| | | Single nucleotide variant (splice donor variant) | Congenital ichthyosiform erythroderma +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Delayed gross motor development +2 more | |
| | | Copy number gain | Positional foot deformity +1 more | |
| | LOC130065793, RAB5IF +1 more (W25*) | Single nucleotide variant (nonsense +2 more) | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 +11 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Pes planus +8 more | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 3B +14 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | Cerebellar ataxia +11 more | |
| | | Single nucleotide variant (missense variant) | Scoliosis | |
| | | Single nucleotide variant (missense variant) | Scoliosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Scoliosis | |
| | | Single nucleotide variant (missense variant) | Scoliosis +1 more | |
| | | Single nucleotide variant (missense variant) | Scoliosis +1 more | |
| | | Single nucleotide variant (missense variant) | Scoliosis | |
| | | Single nucleotide variant (missense variant) | Scoliosis | |
| | | Single nucleotide variant (missense variant) | Scoliosis | |
| | | Duplication (inframe_insertion) | Scoliosis | |
| | | Single nucleotide variant (missense variant) | Scoliosis | |
| | | Single nucleotide variant (missense variant) | Scoliosis | |
| | | Single nucleotide variant (missense variant) | Scoliosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Dural ectasia +13 more | |
| | | Deletion (frameshift variant) | Dural ectasia +13 more | |
| | | Single nucleotide variant (nonsense) | Pyknodysostosis +1 more | |
| | | Single nucleotide variant (missense variant) | Arthritis, sacroiliac +8 more | |
| | | Single nucleotide variant (missense variant) | Scoliosis +1 more | |
| | | Duplication (frameshift variant) | Cryptorchidism +17 more | |
| | | Single nucleotide variant (nonsense +1 more) | See cases +20 more | |
| | | Single nucleotide variant (nonsense) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Ophthalmoplegia, external, with rib and vertebral anomalies +3 more | |
| | | Single nucleotide variant (missense variant) | Ophthalmoplegia, external, with rib and vertebral anomalies +3 more | |
| | | Single nucleotide variant (missense variant) | Craniosynostosis syndrome +10 more | |
| | COL5A1, LOC101448202 (E1772K) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +7 more | |
| | | Copy number loss | Scoliosis +4 more | |
| | | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +4 more | |
| | | Deletion (frameshift variant) | Christianson syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | RYR1-Related Disorders +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (nonsense +1 more) | Dolichocephaly +5 more | |
| | | Single nucleotide variant (missense variant) | Scoliosis | |
| | | Single nucleotide variant (missense variant) | Dolichocephaly +6 more | |
| | | Single nucleotide variant (missense variant) | Child syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | TTN, TTN-AS1 (R32033fs +5 more) | Duplication (frameshift variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +7 more | |
| | | Translocation | Arachnodactyly +10 more | |
| | | Translocation | Ventricular septal defect +3 more | |
| | | Translocation | Corpus callosum, agenesis of +24 more | |
| | | Translocation | Increased overbite +9 more | |
| | | Translocation | Hypotonia +4 more | |
| | | Translocation | Cryptorchidism +10 more | |
| | | Inversion | Accelerated skeletal maturation +12 more | |
| | | Translocation | Clinodactyly of the 5th finger +5 more | |
| | | Translocation | Clinodactyly +11 more | |
| | | Translocation | Hypertelorism +13 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hyperactive airways +8 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue dysplasia +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Increased body weight +16 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Sotos syndrome +19 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Duplication (inframe_insertion) | SOX3-related condition +28 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Noonan syndrome and Noonan-related syndrome +11 more | |
| | | Single nucleotide variant (missense variant) | GDF3-related condition +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Arthrogryposis-like hand anomaly +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +13 more | GConflicting classifications of pathogenicity |