| | | Deletion (frameshift variant) | Familial dysautonomia | |
| | | Single nucleotide variant (synonymous variant) | Familial dysautonomia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Familial dysautonomia +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Familial dysautonomia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Familial dysautonomia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial dysautonomia +2 more | |
| | | Single nucleotide variant (missense variant) | Medulloblastoma +3 more | |
| | | Single nucleotide variant (missense variant) | Familial dysautonomia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Familial dysautonomia +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Familial dysautonomia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial dysautonomia +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial dysautonomia +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial dysautonomia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Familial dysautonomia | |
| | | Single nucleotide variant (intron variant) | Familial dysautonomia +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial dysautonomia +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial dysautonomia | |
| | | Single nucleotide variant (missense variant +1 more) | Familial dysautonomia +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial dysautonomia +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |