| | ADAM19, ADAMTS2 +1166 more | Copy number gain | See cases | |
| | LOC129995100, LOC129995101 +294 more | Copy number loss | See cases | |
| | LINC02159, LINC02202 +279 more | Copy number loss | See cases | |
| | LOC129995188, LOC129995189 +863 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Deletion (frameshift variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Lymphoproliferative syndrome 1 | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Autoinflammatory syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Lymphoproliferative syndrome 1 | |
| | | Deletion (intron variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Lymphoproliferative syndrome 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Lymphoproliferative syndrome 1 | |
| | | Duplication (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |
| | | Deletion (frameshift variant) | Lymphoproliferative syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Lymphoproliferative syndrome 1 | |