| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860273, LOC126860274 +49 more | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LINC02950, LINC03021 +393 more | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999850, LOC129999851 +1038 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126860267, LOC126860268 +126 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860345, LOC126860346 +1103 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999826, LOC129999827 +253 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860501, LOC126860502 +3652 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130000150, LOC130000151 +996 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC132089596, LOC132089598 +123 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion (splice donor variant) | not provided | |
| | | Deletion (splice donor variant) | Neuronal ceroid lipofuscinosis 8 | |
| | | Duplication (splice donor variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Neuronal ceroid lipofuscinosis 8 | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Duplication | Neuronal ceroid lipofuscinosis | |
| | | Deletion | Neuronal ceroid lipofuscinosis | |
| | | Deletion | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 8 | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis | |
| | | Single nucleotide variant (synonymous variant) | Neuronal ceroid lipofuscinosis | |