| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | TRMT5-related disorder | |
| | | Single nucleotide variant (missense variant) | TRMT5-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | TRMT5-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | TRMT5-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | TRMT5-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | TRMT5-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | TRMT5-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | TRMT5-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | TRMT5-related disorder | |
| | LOC130055775, TRMT5 (G31W) | Single nucleotide variant (missense variant +1 more) | TRMT5-related disorder | |
| | LOC130055775, TRMT5 (E15D) | Single nucleotide variant (missense variant +1 more) | TRMT5-related disorder | |