| | LOC130059149, LOC130059150 +1738 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059618, LOC130059619 +1429 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059185, LOC130059186 +869 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126862439, LOC126862440 +1031 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059708, LOC130059709 +788 more | Copy number gain | See cases | |
| | LINC01081, LINC01082 +781 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | CMIP-related neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | 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) | not provided +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 (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 (missense 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 +3 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 (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 | |
| | | 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) | Inborn genetic diseases +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 (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 | |
| | | 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) | 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) | not specified +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 | |
| | | Deletion | Giant axonal neuropathy 1 | |