| | | Copy number loss | 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 gain | See cases | |
| | LOC129936198, LOC129936199 +647 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129936421, LOC129936422 +962 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120630, LOC111429626 +608 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ARPC4, ARPC4-TTLL3 +307 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +190 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +146 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +68 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +81 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +40 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +48 more | Copy number loss | See cases | |
| | ARPC4, ARPC4-TTLL3 +118 more | Copy number loss | See cases | |
| | LOC401052, MTMR14 +47 more | Copy number loss | See cases | |
| | ARPC4, ARPC4-TTLL3 +63 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARPC4, ARPC4-TTLL3 (D99E +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARPC4, ARPC4-TTLL3 (D113N +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARPC4, ARPC4-TTLL3 (R158C +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Duplication | not provided | |
| | ARPC4, ARPC4-TTLL3 +27 more | Deletion | Myoclonic-atonic epilepsy | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | ARPC4, ARPC4-TTLL3 +40 more | Copy number loss | not specified | |
| | ARPC4, ARPC4-TTLL3 +23 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | ARPC4, ARPC4-TTLL3 +29 more | Copy number loss | 3p- syndrome | |
| | | Copy number loss | 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 | |
| | ARPC4, ARPC4-TTLL3 +28 more | Copy number loss | not specified | |
| | FANCD2OS, THUMPD3 +148 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | Long QT syndrome | |
| | ARPC4, ARPC4-TTLL3 +38 more | Duplication | Atrioventricular septal defect, susceptibility to, 2 | |
| | ARPC4, ARPC4-TTLL3 +16 more | Copy number gain | not provided | |
| | ARPC4, ARPC4-TTLL3 +13 more | Duplication | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Copy number loss | not provided | |
| | ARPC4, ARPC4-TTLL3 +16 more | Copy number gain | not provided | |
| | | Duplication | Neurodevelopmental disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | ARPC4, ARPC4-TTLL3 +14 more | 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 +15 more | Copy number loss | See cases | |
| | ARPC4, ARPC4-TTLL3 +39 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |