| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | KLRG2, LOC129999472 (L172M) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | CLEC2L, FMC1-LUC7L2 +2 more | Copy number gain | not provided | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | KLRG2, LOC129999472 (V128M) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | KLRG2, LOC129999472 (E108K) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | KLRG2, LOC129999472 (P159S) | Single nucleotide variant (missense variant) | not specified | |
| | KLRG2, LOC129999472 (R192G) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | KLRG2, LOC129999472 (L171H) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | KLRG2, LOC129999472 (R149G) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | CACNA2D1, CADPS2 +896 more | Complex | Ring chromosome 7 | |
| | | Copy number loss | not specified | |
| | ZC3HAV1, ZC3HAV1L +37 more | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Small face +7 more | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Complex | Renal transitional cell carcinoma | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Pleomorphic xanthoastrocytoma | |
| | LOC129999666, LOC129999667 +1052 more | Copy number gain | See cases | |
| | LOC129999503, LOC129999504 +1025 more | Copy number gain | See cases | |
| | TMEM140, TMEM176A +1046 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999548, LOC129999549 +1547 more | Copy number gain | See cases | |
| | LINC00996, LINC01003 +1025 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999653, LOC129999654 +1380 more | Copy number gain | See cases | |
| | WDR86, WDR86-AS1 +944 more | Copy number loss | See cases | |
| | LOC111674474, LOC111674475 +2212 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121740684, LOC121740685 +4735 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999526, LOC129999527 +908 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |