| | LOC121466733, LOC121468000 +2048 more | Copy number loss | See cases | |
| | LOC130010147, LOC130010148 +2049 more | Copy number gain | See cases | |
| | LOC130009360, LOC130009361 +2047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009909, LOC130009910 +2044 more | Copy number gain | See cases | |
| | LINC00333, LINC00343 +2045 more | Copy number gain | See cases | |
| | LOC112163664, LOC112163665 +2040 more | Copy number gain | See cases | |
| | LOC121838573, LOC121838574 +2028 more | Copy number gain | See cases | |
| | LOC130009528, LOC130009529 +620 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00462, LINC00463 +2021 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00434, LINC00437 +735 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CCDC169, CCDC169-SOHLH2 +53 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | MHC class II deficiency | |
| | | Single nucleotide variant | MHC class II deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | MHC class II deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | MHC class II deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | MHC class II deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | MHC class II deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | MHC class II deficiency | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | LOC130009573, RFXAP (A10V) | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | LOC130009573, RFXAP (A14fs) | Insertion (frameshift variant) | MHC class II deficiency | |
| | LOC130009573, RFXAP (A15V) | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | LOC130009573, RFXAP (V18L) | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | LOC130009573, RFXAP (P19S) | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | LOC130009573, RFXAP (H20Y) | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | LOC130009573, RFXAP (H20R) | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | LOC130009573, RFXAP (L24V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130009573, RFXAP (P26R) | Single nucleotide variant (missense variant) | MHC class II deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | LOC130009573, RFXAP (P34R) | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Deletion (inframe_deletion) | MHC class II deficiency | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | RFXAP, LOC130009573 (A39P) | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | LOC130009573, RFXAP (A40T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130009573, RFXAP (A40S) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Duplication (inframe_insertion) | MHC class II deficiency | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | LOC130009573, RFXAP (Q43*) | Single nucleotide variant (nonsense) | MHC class II deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | LOC130009573, RFXAP (M49T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130009573, RFXAP (Q50K) | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | RFXAP, LOC130009573 (Q50H) | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | LOC130009573, RFXAP (P51L) | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (nonsense) | MHC CLASS II DEFICIENCY 4 | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Deletion (frameshift variant) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Duplication (frameshift variant) | MHC class II deficiency | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (nonsense) | MHC CLASS II DEFICIENCY 4 | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (nonsense) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | MHC class II deficiency | |
| | | Duplication (frameshift variant) | MHC CLASS II DEFICIENCY 4 | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |
| | | Single nucleotide variant (synonymous variant) | MHC class II deficiency | |