| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not provided | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | LOC130003071, LOC130003072 +154 more | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | LOC130003123, LOC130003124 +345 more | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | LOC130003044, LOC130003045 +309 more | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | LOC130003043, LOC130003044 +199 more | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | LOC124375238, LOC124375239 +569 more | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | LOC130003073, LOC130003074 +310 more | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | LOC130002921, LOC130002922 +572 more | Copy number loss | Kleefstra syndrome 1 | |
| | LOC121366034, LOC121366035 +572 more | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | | Copy number loss | Kleefstra syndrome 1 | |
| | LOC126860801, LOC129390118 +309 more | Copy number loss | Kleefstra syndrome 1 | |
| | | 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 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | 9q34.3 microduplication-related neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Kleefstra syndrome 1 | |
| | | Deletion | Adams-Oliver syndrome 5 +3 more | GConflicting classifications of pathogenicity |
| | | Duplication | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Deletion | Rafiq syndrome | |
| | | Duplication | Developmental and epileptic encephalopathy, 14 +4 more | |
| | | 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 | |
| | LOC124375251, LOC126860788 +265 more | Copy number loss | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | ANKRD18A, ANKRD18B +768 more | Copy number gain | not specified | |
| | | Copy number loss | Coarctation of aorta +1 more | |
| | | Duplication | Developmental and epileptic encephalopathy, 14 +2 more | |
| | | Deletion | Epilepsy +1 more | |
| | LINC02908, LOC651337 +73 more | Deletion | Kleefstra syndrome 1 | |
| | | Copy number gain | not provided | |
| | | Deletion | Kleefstra syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Microcephaly | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Seizure +2 more | |
| | | Copy number loss | mTOR Inhibitor response | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003070, LOC130003071 +283 more | Copy number loss | See cases | |
| | LOC124210612, LOC124210613 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003026, LOC130003027 +530 more | Copy number gain | See cases | |
| | LOC113839542, LOC113839543 +3786 more | Copy number gain | See cases | |
| | LOC130003077, LOC130003078 +405 more | Copy number gain | See cases | |
| | LOC121331326, LOC121331327 +3785 more | Copy number gain | See cases | |
| | LOC126860737, LOC126860738 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390118, LOC130002920 +439 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002189, LOC130002190 +3786 more | Copy number gain | See cases | |
| | LOC130003057, LOC130003058 +656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121197, LOC110121234 +3786 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |