| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130064154, LOC130064155 +625 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | MHC class II deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | MHC class II deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | MHC class II deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | MHC class II deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | MHC class II deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | MHC class II deficiency | GPathogenic/Likely pathogenic |
| | NR2C2AP, RFXANK (V218L +5 more) | Single nucleotide variant (3 prime UTR variant +2 more) | MHC class II deficiency | |
| | NR2C2AP, RFXANK (I242M +5 more) | Single nucleotide variant (3 prime UTR variant +2 more) | MHC class II deficiency | |
| | NR2C2AP, RFXANK (L225F +5 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | MHC class II deficiency | |
| | RFXANK, NR2C2AP (L227V +5 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +1 more | |
| | RFXANK, NR2C2AP (Q251E +5 more) | Single nucleotide variant (3 prime UTR variant +2 more) | MHC class II deficiency | |
| | NR2C2AP, RFXANK (S277G +5 more) | Single nucleotide variant (3 prime UTR variant +2 more) | MHC class II deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | MHC class II deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | MHC class II deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | MHC class II deficiency | GConflicting classifications of pathogenicity |
| | NR2C2AP, RFXANK (P234S +5 more) | Single nucleotide variant (3 prime UTR variant +2 more) | MHC class II deficiency | |
| | NR2C2AP, RFXANK (A234S +5 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | NR2C2AP, RFXANK (D236E +5 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | NR2C2AP, RFXANK (P237S +5 more) | Single nucleotide variant (3 prime UTR variant +2 more) | MHC class II deficiency | |
| | NR2C2AP, RFXANK (E237K +5 more) | Single nucleotide variant (3 prime UTR variant +2 more) | MHC class II deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | RFXANK-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | MHC class II deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Copy number gain | not provided | |
| | | Deletion | Progressive myoclonic epilepsy type 8 | |
| | | Duplication | MHC class II deficiency | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | PGLYRP1, PGLYRP2 +1364 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Complex | Breast ductal adenocarcinoma | |