| | MIR138-2, MIR140 +1738 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059829, LOC130059830 +1429 more | Copy number gain | See cases | |
| | LOC108281164, LOC109029536 +1426 more | Copy number gain | See cases | |
| | LOC130059834, LOC130059835 +1424 more | Copy number gain | See cases | |
| | LOC130059420, LOC130059421 +869 more | Copy number gain | See cases | |
| | LOC132090408, LOC132090409 +572 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130059850, LOC130059851 +1041 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112486211, LOC112486212 +360 more | Copy number loss | See cases | |
| | LOC130059772, LOC130059773 +832 more | Copy number gain | See cases | |
| | LOC132090418, LOC132090419 +788 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059506, LOC130059507 +447 more | Copy number loss | See cases | |
| | LOC130059528, LOC130059529 +162 more | Copy number loss | See cases | |
| | LOC130059746, LOC130059747 +719 more | Copy number gain | See cases | |
| | | Copy number loss | CMIP-related neurodevelopmental disorder | |
| | LOC130059500, LOC130059501 +691 more | Copy number gain | See cases | |
| | LOC132090448, LOC132090449 +677 more | Copy number gain | See cases | |
| | LOC130059591, LOC130059592 +670 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Giant axonal neuropathy 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Insertion (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | GConflicting classifications of pathogenicity |
| | | Deletion (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
| | | Indel (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Indel (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hypotonia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Giant axonal neuropathy 1 | |
| | | Deletion (intron variant) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (intron variant) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (intron variant) | Giant axonal neuropathy 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |