| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | ARPC4, ARPC4-TTLL3 +40 more | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | ARPC4, ARPC4-TTLL3 +23 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IRAK2, LOC107303341 (K44N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IRAK2, LOC107303341 (C79S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC107303341, IRAK2 (R58W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IRAK2, LOC107303341 (G130R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | Myoclonic-astatic epilepsy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | ARPC4, ARPC4-TTLL3 +20 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | FANCD2OS, THUMPD3 +148 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | ARPC4, ARPC4-TTLL3 +38 more | Duplication | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Von Hippel-Lindau syndrome | |
| | | Deletion | Von Hippel-Lindau syndrome | |
| | | Deletion | Von Hippel-Lindau syndrome | |
| | | Deletion | Von Hippel-Lindau syndrome | |
| | | Copy number loss | not provided | |
| | | Duplication | Neurodevelopmental disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +39 more | Copy number loss | See cases | |
| | ARPC4, ARPC4-TTLL3 +307 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129936144, LOC129936145 +271 more | Copy number loss | See cases | |
| | ATP2B2, ATP2B2-IT1 +36 more | Copy number loss | See cases | |
| | LOC129936377, LOC129936378 +1111 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC112935932, LOC112935963 +331 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129936094, LOC129936095 +647 more | Copy number gain | See cases | |
| | LOC129936140, LOC129936141 +58 more | Copy number loss | See cases | |
| | ARPC4, ARPC4-TTLL3 +118 more | Copy number loss | See cases | |
| | LOC129929025, LOC129929026 +190 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +146 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC110120630, LOC111429626 +608 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ARPC4, ARPC4-TTLL3 +63 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |