| | | Single nucleotide variant (splice acceptor variant) | Congenital long QT syndrome | |
| | LOC129998903, MBLAC1 (A71D) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129998903, MBLAC1 (Q26E) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129998903, MBLAC1 (R90P) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | not provided | |
| | LOC129998903, MBLAC1 (S134L) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Multiple congenital anomalies/dysmorphic syndrome | |
| | LOC129998903, MBLAC1 (T108M) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129998903, MBLAC1 (A29P) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129998903, MBLAC1 (R156G) | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129998903, MBLAC1 (D136N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129998903, MBLAC1 (A70V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129998903, MBLAC1 (T51N) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | See cases | |
| | CACNA2D1, CADPS2 +896 more | Complex | Ring chromosome 7 | |
| | | Copy number loss | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | ATP5MF-PTCD1, AZGP1 +127 more | Copy number gain | Isolated Pierre-Robin syndrome +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Pleomorphic xanthoastrocytoma | |
| | | Copy number gain | See cases | |
| | | Inversion | Childhood apraxia of speech | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC123956257, LOC123956258 +2213 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |