| | LOC130066574, LOC130066575 +1159 more | Copy number gain | See cases | |
| | LOC130066796, LOC130066797 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066513, LOC130066514 +1160 more | Copy number gain | See cases | |
| | LOC126653326, LOC126653327 +1160 more | Copy number gain | See cases | |
| | LOC130066833, LOC130066834 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066700, LOC130066701 +1159 more | Copy number gain | See cases | |
| | LOC130066665, LOC130066666 +1160 more | Copy number gain | See cases | |
| | ADAMTS1, ADAMTS5 +643 more | Copy number loss | See cases | |
| | LOC126653316, LOC126653317 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066758, LOC130066759 +1159 more | Copy number gain | See cases | |
| | LOC130066436, LOC130066437 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | KRTAP13-3, KRTAP13-4 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066541, LOC130066542 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066593, LOC130066594 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066830, LOC130066831 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129391220, LOC129391221 +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 | |
| | LOC119266102, IFNGR2 (L13F) | Single nucleotide variant (missense variant) | IFNGR2-related condition +2 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) | 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) | not provided +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 | |