| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Single nucleotide variant (splice acceptor variant) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Duplication (frameshift variant) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Single nucleotide variant (nonsense) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Single nucleotide variant (splice donor variant) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Duplication (frameshift variant) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Single nucleotide variant (nonsense) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Single nucleotide variant (splice donor variant) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Duplication (splice acceptor variant) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Deletion (splice donor variant) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Deletion (frameshift variant) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Single nucleotide variant (splice acceptor variant) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Single nucleotide variant (nonsense) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Indel (missense variant) | not provided +1 more | |
| | | Insertion (inframe_insertion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | AGPS-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (inframe_insertion) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | AGPS-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Rhizomelic chondrodysplasia punctata | |
| | | Single nucleotide variant (missense variant) | Rhizomelic chondrodysplasia punctata | |
| | | Single nucleotide variant (missense variant) | Rhizomelic chondrodysplasia punctata | |
| | | Single nucleotide variant (missense variant) | Rhizomelic chondrodysplasia punctata | |
| | | Single nucleotide variant (missense variant) | Rhizomelic chondrodysplasia punctata | |
| | | Single nucleotide variant (missense variant) | Rhizomelic chondrodysplasia punctata | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Rhizomelic chondrodysplasia punctata | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Single nucleotide variant (missense variant) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Microsatellite (inframe_insertion) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Rhizomelic chondrodysplasia punctata type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Rhizomelic chondrodysplasia punctata type 3 | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |