| | | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860501, LOC126860502 +3652 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |
| | LOC130000156, LOC130000157 +3106 more | Copy number gain | See cases | |
| | LINC02894, LINC02906 +1960 more | Copy number gain | See cases | |
| | LOC130000602, LOC130000603 +470 more | Copy number gain | See cases | |
| | LOC130000617, LOC130000618 +191 more | Copy number loss | See cases | |
| | LOC130001211, LOC130001212 +1690 more | Copy number gain | See cases | |
| | ATP6V0D2, C8orf88 +217 more | Copy number loss | See cases | |
| | LOC130001139, LOC130001140 +1686 more | Copy number gain | See cases | |
| | LOC130000705, LOC130000706 +327 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Osteopetrosis with renal tubular acidosis | |
| | | Single nucleotide variant | Osteopetrosis with renal tubular acidosis | |
| | | Single nucleotide variant | Osteopetrosis with renal tubular acidosis | |
| | | Duplication | Osteopetrosis with renal tubular acidosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Osteopetrosis with renal tubular acidosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Osteopetrosis with renal tubular acidosis | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental delay | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Osteopetrosis with renal tubular acidosis | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |