| | ANKRD66, C6orf201 +2580 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | HLA-DQA1, HLA-DQB1 +4 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | HLA-DQA1, HLA-DQB1 +7 more | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Multiple sclerosis, susceptibility to | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | HLA-DRB1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (no sequence alteration +1 more) | Peritoneal Gliomatosis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Insertion (frameshift variant) | HLA-DRB1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Pulmonary artery atresia | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (no sequence alteration +1 more) | not provided | |
| | | Insertion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Deletion (nonsense +1 more) | Multiple sclerosis, susceptibility to | |
| | | Insertion (frameshift variant +1 more) | HLA-DRB1-related disorder | |
| | | Insertion (frameshift variant +1 more) | HLA-DRB1-related disorder | |
| | | Insertion (frameshift variant) | not specified | |
| | | Single nucleotide variant (splice donor variant) | HLA-DRB1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Proteasome-associated autoinflammatory syndrome 1 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Complex | Breast ductal adenocarcinoma | |
| | | Variation | Multiple sclerosis, susceptibility to 1 | |
| | | Variation | Sarcoidosis, susceptibility to, 1 | |