| | LINC02553, LINC02700 +528 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ANGPTL5, ARHGAP42 +149 more | Copy number loss | See cases | |
| | LOC130006930, LOC130006931 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Asphyxiating thoracic dystrophy 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Asphyxiating thoracic dystrophy 3 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Asphyxiating thoracic dystrophy 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Asphyxiating thoracic dystrophy 3 | |
| | | Deletion (frameshift variant +1 more) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 3 | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 3 | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 3 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Asphyxiating thoracic dystrophy 3 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 3 | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Short rib-polydactyly syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (missense variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Duplication (intron variant) | Jeune thoracic dystrophy | |
| | | Deletion (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (intron variant) | Jeune thoracic dystrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Jeune thoracic dystrophy | |