| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | 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) | Neurodevelopmental disorder with speech delay and variable ocular anomalies | |
| | | Microsatellite (inframe_deletion) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with speech delay and variable ocular anomalies +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with speech delay and variable ocular anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder | |
| | | Microsatellite (frameshift variant) | Neurodevelopmental disorder | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with speech delay and variable ocular anomalies | |
| | | 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 | |
| | ACSM3, LOC130058602 +1 more (E59G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ACSM3, LOC130058602 +1 more (G45A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ACSM3, LOC130058602 +1 more (G45S) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | ACSM3, LOC130058603 +1 more (A33V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ACSM3, LOC130058603 +1 more (A25V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ACSM3, LOC130058603 +1 more (A25T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Microcephaly | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Complex | Hemimegalencephaly | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | See cases | |