| | | 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 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | IFNGR2, LOC119266102 (M1L) | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 28 | |
| | IFNGR2, LOC119266102 (M1V) | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 28 | |
| | IFNGR2, LOC119266102 (R2fs) | Deletion (frameshift variant) | Immunodeficiency 28 | |
| | IFNGR2, LOC119266102 (P3R) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | | Duplication (inframe_insertion) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | IFNGR2, LOC119266102 (W7R) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Duplication (inframe_insertion) | Immunodeficiency 28 | |
| | | Microsatellite (inframe_insertion) | Immunodeficiency 28 | |
| | IFNGR2, LOC119266102 (L13F) | Single nucleotide variant (missense variant) | IFNGR2-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | | Microsatellite (inframe_insertion) | Immunodeficiency 28 | |
| | | Microsatellite (inframe_insertion) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | | Microsatellite (inframe_deletion) | Immunodeficiency 28 | |
| | | Microsatellite (inframe_deletion) | Immunodeficiency 28 | |
| | | Microsatellite (inframe_deletion) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | IFNGR2, LOC119266102 (A18V) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | IFNGR2, LOC119266102 (A19V) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | IFNGR2, LOC119266102 (A20T) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | IFNGR2, LOC119266102 (A22V) | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | IFNGR2, LOC119266102 (P23A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 28 | |
| | | Deletion (intron variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Duplication (intron variant +2 more) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant +1 more) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 28 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 28 | |
| | | Deletion (intron variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 28 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |