| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Deletion | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Deletion (splice donor variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | CTLA4-related disorder | |
| | | Single nucleotide variant (splice donor variant) | CTLA4-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | CTLA4, LOC129935461 (L180I) | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Microsatellite (inframe_deletion +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (nonsense) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Deletion | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Duplication | Autoimmune lymphoproliferative syndrome type 2B +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | CTLA4, LOC129935461 (L186S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (nonsense) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Duplication (frameshift variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Indel (inframe_deletion) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | Chromosome 2q32-q33 deletion syndrome | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |