| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome, type 1a | |
| | | Deletion (frameshift variant +1 more) | Autoimmune lymphoproliferative syndrome, type 1a | |
| | | Duplication (splice donor variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome, type 1a | |
| | | Single nucleotide variant (missense variant +2 more) | SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Autoimmune lymphoproliferative syndrome, type 1a | |
| | | Single nucleotide variant (splice donor variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (splice donor variant +1 more) | Autoimmune lymphoproliferative syndrome, type 1a | |
| | | Insertion (frameshift variant +2 more) | Autoimmune lymphoproliferative syndrome, type 1a | |
| | | Single nucleotide variant (missense variant +2 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Autoimmune lymphoproliferative syndrome, type 1a | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Autoimmune lymphoproliferative syndrome, type 1a | |
| | | Single nucleotide variant (missense variant +2 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC | |
| | | Single nucleotide variant (missense variant +2 more) | Autoimmune lymphoproliferative syndrome, type 1a | |
| | | Single nucleotide variant (missense variant +2 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (nonsense +2 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Duplication (frameshift variant +2 more) | Autoimmune lymphoproliferative syndrome, type 1a | |