| | | Copy number gain | See cases | |
| | PDE9A-AS1, PDXK +1160 more | Copy number gain | See cases | |
| | LOC130066843, LOC130066844 +1160 more | Copy number gain | See cases | |
| | LOC126653343, LOC126653344 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00315, LINC00316 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126653350, LOC126653351 +1159 more | Copy number gain | See cases | |
| | LINC00111, LINC00112 +1160 more | Copy number gain | See cases | |
| | ADAMTS1, ADAMTS5 +643 more | Copy number loss | See cases | |
| | TSPEAR-AS1, TSPEAR-AS2 +1160 more | Copy number gain | See cases | |
| | LOC130066578, LOC130066579 +1159 more | Copy number gain | See cases | |
| | LOC126653316, LOC126653317 +1157 more | Copy number gain | See cases | |
| | LOC130066758, LOC130066759 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066717, LOC130066718 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125418051, LOC125418052 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066756, LOC130066757 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | KRTAP12-3, KRTAP12-4 +1157 more | Copy number gain | See cases | |
| | LOC107403153, LOC107548109 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066735, LOC130066736 +1156 more | Copy number loss | See cases | |
| | ATP5PO, C21orf62 +107 more | Deletion | ZTTK syndrome | |
| | | Copy number loss | See cases | |
| | | Duplication | Immunodeficiency 28 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Immunodeficiency 28 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (S261T +1 more) | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 28 | |
| | TMEM50B, IFNGR2 (Q246R +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | IFNGR2, TMEM50B (V253M +1 more) | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (G273V +1 more) | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (G254E +1 more) | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (T274I +1 more) | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (S260L +1 more) | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (A263V +1 more) | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (G264E +1 more) | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (F267fs +1 more) | Deletion (frameshift variant +1 more) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (F287L +1 more) | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 28 | |
| | TMEM50B, IFNGR2 (V270I +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (G275V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (Q309P +1 more) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 28 | |
| | | Microsatellite (intron variant) | Immunodeficiency 28 | |
| | | Insertion (intron variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 28 | |
| | | Duplication (intron variant) | Immunodeficiency 28 | |
| | | Deletion (intron variant) | Immunodeficiency 28 | |
| | | Duplication (intron variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 28 +2 more | |
| | | Duplication (intron variant) | Immunodeficiency 28 +1 more | |
| | | Deletion (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Immunodeficiency 28 | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | TMEM50B, IFNGR2 (D297N +1 more) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (A324D +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IFNGR2, TMEM50B (A305V +1 more) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (L306S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | TMEM50B, IFNGR2 (P312S +1 more) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (D314N +1 more) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | IFNGR2, TMEM50B (V316I +1 more) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (W317R +1 more) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (V320L +1 more) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (S343L +1 more) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | IFNGR2, TMEM50B (P326L +1 more) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant) | IFNGR2-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |