| | LOC130065401, LOC130065402 +348 more | Copy number gain | See cases | |
| | LOC130065344, LOC130065345 +455 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC114004355, LOC116286198 +347 more | Copy number gain | See cases | |
| | | Copy number gain | Renal agenesis | |
| | LOC105372493, LOC105372524 +579 more | Copy number gain | See cases | |
| | LOC126863004, LOC126863005 +814 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065884, LOC130065885 +2522 more | Copy number gain | See cases | |
| | LOC130065322, LOC130065323 +300 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | CHGB, LOC125384571 +13 more | Copy number gain | See cases | |
| | | 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 (synonymous variant) | CHGB-related disorder | |
| | | Single nucleotide variant (missense variant) | CHGB-related disorder | |
| | | 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 | |
| | | 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) | CHGB-related disorder | |
| | | 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 provided | |
| | | 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) | CHGB-related disorder | |
| | | 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 provided +1 more | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | CHGB-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CHGB-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | CHGB-related disorder | |
| | CHGB, LOC126862962 (E565D) | Single nucleotide variant (missense variant) | not specified | |
| | CHGB, LOC126862962 (W582L) | Single nucleotide variant (missense variant) | not specified | |
| | CHGB, LOC126862962 (Y584H) | Single nucleotide variant (missense variant) | not specified | |
| | CHGB, LOC126862962 (R591S) | Single nucleotide variant (missense variant) | not specified | |
| | CHGB, LOC126862962 (K594N) | Single nucleotide variant (missense variant) | not specified | |
| | CHGB, LOC126862962 (S617L) | Single nucleotide variant (missense variant) | not specified | |
| | CHGB, LOC126862962 (Y624C) | Single nucleotide variant (missense variant) | not specified | |
| | CHGB, LOC126862962 (A636S) | Single nucleotide variant (missense variant) | not specified | |
| | CHGB, LOC126862962 (D644E) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | CHGB-related disorder | |
| | | Single nucleotide variant (intron variant) | CHGB-related disorder +1 more | |
| | CHGB, LOC126862962 (E657K) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Duplication | Pigmentary pallidal degeneration +1 more | |
| | | Copy number loss | 20p12.3 microdeletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |