| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129934735, POLR2D (G5S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129934735, POLR2D (P8L) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Deletion | Thrombophilia due to protein C deficiency, autosomal dominant | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129934735, POLR2D (D7V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129934735, POLR2D (P8R) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number gain | 2q13q22.3 microduplication syndrome | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | LOC129934710, LOC129934711 +112 more | Deletion | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC115945190, LOC120961783 +101 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |