| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129936144, LOC129936145 +271 more | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129936377, LOC129936378 +1111 more | 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 | |
| | LOC129929025, LOC129929026 +190 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +146 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +118 more | Copy number loss | See cases | |
| | LOC129936140, LOC129936141 +58 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ATP2B2, ATP2B2-IT1 +36 more | Copy number loss | See cases | |
| | | 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 (synonymous variant) | TATDN2-related condition | |
| | LOC107303342, TATDN2 (S144G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC107303342, TATDN2 (S198L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC107303342, TATDN2 (R226G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC107303342, TATDN2 (K262E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TATDN2, LOC107303342 (S345C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC107303342, TATDN2 (P392S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC107303342, TATDN2 (P396S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC107303342, TATDN2 (T398I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC107303342, TATDN2 (Y419H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TATDN2, LOC107303342 (S431F) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TATDN2, LOC107303342 (S437A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TATDN2, LOC107303342 (S437L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC107303342, TATDN2 (E439K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC107303342, TATDN2 (R472C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TATDN2, LOC107303342 (L482P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC107303342, TATDN2 (I496T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TATDN2, LOC107303342 (R569C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | 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 | |
| | | Copy number loss | See cases | |
| | | Deletion | Myoclonic-astatic epilepsy | |
| | | 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 | |
| | 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 | |
| | | 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 loss | See cases | |
| | | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +39 more | Copy number loss | See cases | |