| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | TNFAIP6, LOC101929319 (L11V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC101929319, TNFAIP6 (R33L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC101929319, TNFAIP6 (R43L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC101929319, TNFAIP6 (G90D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TNFAIP6, LOC101929319 (Y169H) | 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 specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Strabismus +2 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | 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 gain | See cases | |