| | LOC105378448, LOC107195252 +245 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130004555, LOC130004556 +375 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Insertion (frameshift variant +1 more) | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Microsatellite (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities +1 more | |
| | | Single nucleotide variant (nonsense) | FRA10AC1-related condition | |
| | | Single nucleotide variant (splice donor variant) | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Indel | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | See cases | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion (splice acceptor variant +2 more) | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | |
| | | Microsatellite (frameshift variant +1 more) | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Distal trisomy 10q | |
| | ABRAXAS2, CHCHD1 +673 more | Copy number loss | Distal 10q deletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not specified | |
| | | Deletion | Autosomal dominant epilepsy with auditory features +1 more | |
| | | Deletion | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |