| | A2ML1, A2ML1-AS1 +477 more | Deletion | Tumoral calcinosis, hyperphosphatemic, familial, 1 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007649, LOC130007650 +1258 more | Copy number gain | See cases | |
| | LOC124625919, LOC124625920 +1009 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861648, LOC126861649 +4836 more | Copy number gain | See cases | |
| | LOC130007425, LOC130007426 +1257 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007339, LOC130007340 +698 more | Copy number gain | See cases | |
| | LOC130007275, LOC130007276 +97 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +3 more) | Immunodeficiency 79 | |
| | | Deletion (intron variant) | Immunodeficiency 79 +1 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 79 +1 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | CD4-related condition +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | CD4-related condition +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | CD4-related condition +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 79 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 79 +1 more | |
| | | Single nucleotide variant (synonymous variant) | CD4-related condition | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | CD4-related condition | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (splice acceptor variant) | Immunodeficiency 79 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 79 +1 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 79 | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Immunodeficiency 79 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Immunodeficiency 79 +1 more | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | not provided | |
| | | Copy number gain | Pallister-Killian syndrome | |
| | | Duplication | Lymphoproliferative syndrome 2 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | not provided | |
| | | Duplication | Temtamy syndrome | |
| | | Copy number gain | Single transverse palmar crease +6 more | |
| | | Copy number gain | not provided | |
| | | Duplication | Temtamy syndrome | |
| | | Duplication | Peroxisome biogenesis disorder 2B | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | 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 gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |