| | LOC130001539, LOC130001540 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839508, LOC113839509 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001667, LOC130001668 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116186942, LOC116186943 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121366033, LOC121366034 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003132, LOC130003133 +1210 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | DYNC2I2, LOC126860772 +1 more | Duplication | Short-rib thoracic dysplasia 11 with or without polydactyly +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | DYNC2I2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Microsatellite (frameshift variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (nonsense) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Deletion (frameshift variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Insertion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Duplication (frameshift variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly +1 more | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Microsatellite (frameshift variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 3 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Microsatellite (intron variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Deletion (intron variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Duplication (intron variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Deletion (intron variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Duplication (intron variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Deletion (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 11 with or without polydactyly | |