| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806461, LOC126806467 +1299 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC122861320, LOC122889004 +347 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132088830, LOC132088831 +576 more | Copy number gain | See cases | |
| | B3GNT7, LOC126806551 (R10Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GNT7, LOC126806551 (V20M) | Single nucleotide variant (missense variant) | not provided | |
| | B3GNT7, LOC126806551 (L55P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GNT7, LOC126806551 (P71S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GNT7, LOC126806551 (R109W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GNT7, LOC126806551 (R118C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GNT7, LOC126806551 (P127A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GNT7, LOC126806551 (E151K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GNT7, LOC126806551 (G165D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | B3GNT7, LOC126806551 (R186C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | Joubert syndrome 22 +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |