| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | LOC126860637, LOC126860638 +1188 more | Copy number gain | See cases | |
| | LOC130002218, LOC130002219 +994 more | 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 loss | Weiss-kruszka syndrome | |
| | LOC132089619, LOC132089620 +310 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial dysautonomia | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Medulloblastoma +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Familial dysautonomia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Familial dysautonomia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | 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) | Medulloblastoma +2 more | |
| | | 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 provided | |
| | | Deletion (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 provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |