| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | |
| | | Deletion (splice donor variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | |
| | CTLA4, LOC129935461 (L180I) | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | |
| | CTLA4, LOC129935461 (L186S) | Single nucleotide variant (intron variant +1 more) | Inborn genetic diseases | |
| | CTLA4, LOC129935461 (M189I) | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | |
| | CTLA4, LOC129935461 (L180P) | Single nucleotide variant (intron variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | |
| | CTLA4, LOC129935461 (S185T) | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | |
| | CTLA4, LOC129935461 (T182R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | CTLA4, LOC129935461 (M189V) | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | |
| | | Single nucleotide variant (splice donor variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | |