| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | CASP10-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | CASP10-related condition | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Deletion (frameshift variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (nonsense) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +2 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +2 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant +2 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Deletion (frameshift variant +2 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | CASP10-related condition | |
| | | Single nucleotide variant (missense variant) | CASP10-related condition | |
| | | Single nucleotide variant (missense variant) | CASP10-related condition | |
| | | Single nucleotide variant (missense variant) | CASP10-related condition | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Diffuse midline glioma, H3 K27-altered | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Single nucleotide variant (missense variant +2 more) | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Deletion | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Duplication | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Deletion | Autoimmune lymphoproliferative syndrome type 2A | |
| | | Duplication | Autoimmune lymphoproliferative syndrome type 2B +1 more | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 2A | |