| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Deletion (intron variant) | Multisystemic smooth muscle dysfunction syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Multisystemic smooth muscle dysfunction syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Multisystemic smooth muscle dysfunction syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Multisystemic smooth muscle dysfunction syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (intron variant) | Multisystemic smooth muscle dysfunction syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Multisystemic smooth muscle dysfunction syndrome +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Multisystemic smooth muscle dysfunction syndrome +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Multisystemic smooth muscle dysfunction syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (intron variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Duplication (5 prime UTR variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 +1 more | |
| | | Deletion (frameshift variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Deletion (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Neoplasm | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome, type 1a | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Duplication (inframe_insertion +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Deletion (frameshift variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Insertion (frameshift variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Duplication (splice donor variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (intron variant) | FAS-related disorder +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |