| | LCA5L, LINC00111 +1159 more | Copy number gain | See cases | |
| | LOC126653353, LOC126653354 +1160 more | Copy number gain | See cases | |
| | KRTAP8-1, LCA5L +1160 more | Copy number gain | See cases | |
| | RNA5-8SN1, RNA5-8SN2 +1160 more | Copy number gain | See cases | |
| | LOC130066804, LOC130066805 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126653353, LOC126653354 +1159 more | Copy number gain | See cases | |
| | LOC129388418, LOC129391214 +1160 more | Copy number gain | See cases | |
| | KCNJ6, KCNJ6-AS1 +643 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00515, LINC00649 +1159 more | Copy number gain | See cases | |
| | LOC130066731, LOC130066732 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ETS2-AS1, EVA1C +1157 more | Copy number gain | See cases | |
| | LOC130066726, LOC130066727 +1159 more | Copy number gain | See cases | |
| | LOC128849172, LOC129388418 +884 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01425, LINC01426 +1157 more | Copy number gain | See cases | |
| | LOC130066861, LOC130066862 +1155 more | Copy number gain | See cases | |
| | LOC130066468, LOC130066469 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112694754, LOC114004360 +1159 more | Copy number gain | See cases | |
| | LOC130066795, LOC130066796 +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) | Immunodeficiency 28 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 28 | |
| | | Microsatellite (inframe_insertion) | Immunodeficiency 28 | |
| | | Microsatellite (inframe_insertion) | Immunodeficiency 28 | |
| | IFNGR2, LOC119266102 (A22del) | Microsatellite (inframe_deletion +1 more) | IFNGR2-related disorder | |
| | | 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 | |
| | LOC119266102, IFNGR2 (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) | not provided +1 more | |
| | | 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) | Immunodeficiency 28 +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) | Interferon gamma receptor deficiency +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 | |