| | ATP8A2, ATXN8OS +2049 more | Copy number loss | See cases | |
| | LOC130009892, LOC130009893 +2050 more | Copy number gain | See cases | |
| | LOC130009819, LOC130009820 +2048 more | Copy number gain | See cases | |
| | LOC130009419, LOC130009420 +567 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009309, LOC130009310 +2041 more | Copy number gain | See cases | |
| | LOC130009607, LOC130009608 +2029 more | Copy number gain | See cases | |
| | LOC132090185, LOC132090186 +621 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009383, LOC130009384 +2022 more | Copy number gain | See cases | |
| | LOC126861859, LOC126861860 +2025 more | Copy number gain | See cases | |
| | LOC112163664, LOC112163665 +2025 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009567, LOC130009568 +1005 more | Copy number gain | See cases | |
| | LOC130009620, LOC130009621 +781 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009600, LOC130009601 +735 more | Copy number gain | See cases | |
| | LOC130009611, LOC130009612 +938 more | Copy number gain | See cases | |
| | LOC130009687, LOC130009688 +1557 more | Copy number gain | See cases | |
| | CCDC169, CCDC169-SOHLH2 +53 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC00400, LINC02333 +604 more | 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) | MHC class II deficiency +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 +1 more | |
| | | 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) | MHC class II deficiency +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) | not specified +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 | |