| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC130060427, TOP3A (V36L) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC130060427, TOP3A (A50V) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC130060427, TOP3A (A45V) | Single nucleotide variant (5 prime UTR variant +1 more) | TOP3A-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC130060427, TOP3A (R23C) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC130060427, TOP3A (L10F) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC130060427, TOP3A (R23L) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC130060427, TOP3A (C38S) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | TOP3A, LOC130060427 (C38R) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC130060427, TOP3A (R15G) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |