| | LOC129993109, RAB33B +1 more | Single nucleotide variant (non-coding transcript variant) | Smith-McCort dysplasia | |
| | LOC129993109, RAB33B +1 more | Single nucleotide variant (non-coding transcript variant) | Smith-McCort dysplasia | |
| | LOC129993109, RAB33B +1 more | Single nucleotide variant (non-coding transcript variant) | Smith-McCort dysplasia | |
| | LOC129993109, RAB33B +1 more | Single nucleotide variant (non-coding transcript variant) | Smith-McCort dysplasia | |
| | LOC129993109, RAB33B +1 more | Single nucleotide variant (non-coding transcript variant) | Smith-McCort dysplasia | |
| | LOC129993109, RAB33B +1 more | Single nucleotide variant (non-coding transcript variant) | Smith-McCort dysplasia +1 more | |
| | LOC129993109, RAB33B +1 more | Single nucleotide variant (non-coding transcript variant) | Smith-McCort dysplasia | |
| | LOC129993109, RAB33B +1 more | Single nucleotide variant (non-coding transcript variant) | Smith-McCort dysplasia | |
| | LOC129993109, RAB33B +1 more | Single nucleotide variant (non-coding transcript variant) | Smith-McCort dysplasia | |
| | LOC129993109, RAB33B +1 more | Single nucleotide variant (non-coding transcript variant) | Smith-McCort dysplasia | |
| | LOC129993109, RAB33B +1 more | Single nucleotide variant (non-coding transcript variant) | Smith-McCort dysplasia | |
| | | Single nucleotide variant (5 prime UTR variant) | Smith-McCort dysplasia 2 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (intron variant) | Smith-McCort dysplasia 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-McCort dysplasia 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-McCort dysplasia 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-McCort dysplasia 2 | |
| | | 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 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Smith-McCort dysplasia 2 +1 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | 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 | |
| | | Copy number gain | not provided | |