| | | Single nucleotide variant (5 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (nonsense) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Smith-McCort dysplasia 2 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Skeletal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Smith-McCort dysplasia 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Smith-McCort dysplasia 2 +2 more | GConflicting classifications of pathogenicity |
| | | 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) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (synonymous variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Smith-McCort dysplasia 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (stop lost) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Deletion (3 prime UTR variant) | Smith-McCort dysplasia | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia 2 | |