| | | Copy number gain | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | RHOH-related disorder | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | LOC129992561, LOC129992562 +1409 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992261, LOC129992262 +962 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC123477714, LOC123477715 +1267 more | Copy number gain | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | FETAL DEMISE | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Duplication | Lipoic acid synthetase deficiency | |
| | | Deletion (frameshift variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Copy number loss | not provided | |
| | | Duplication | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (nonsense) | Epidermodysplasia verruciformis, susceptibility to, 4 | |
| | | Single nucleotide variant (missense variant) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis +1 more | |
| | | Single nucleotide variant (synonymous variant) | T-cell immunodeficiency with epidermodysplasia verruciformis +1 more | |
| | | Deletion (inframe_deletion) | T-cell immunodeficiency with epidermodysplasia verruciformis | |
| | | Single nucleotide variant (synonymous variant) | RHOH-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermodysplasia verruciformis, susceptibility to, 4 +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129992145, LOC129992146 +1209 more | Copy number gain | See cases | |
| | LOC123477730, LOC126807038 +36 more | Copy number gain | See cases | |