| | LOC123477714, LOC123477715 +1267 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992145, LOC129992146 +1209 more | Copy number gain | See cases | |
| | LOC129992561, LOC129992562 +1409 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992261, LOC129992262 +962 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | LOC126807045, LOC126807046 +171 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital central hypoventilation +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital central hypoventilation +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital central hypoventilation +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital central hypoventilation +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital central hypoventilation +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital central hypoventilation +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital central hypoventilation +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital central hypoventilation +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital central hypoventilation +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital central hypoventilation +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital central hypoventilation +1 more | |
| | | Duplication (3 prime UTR variant) | Congenital central hypoventilation +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Duplication (3 prime UTR variant) | Congenital central hypoventilation +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital central hypoventilation +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Microsatellite (3 prime UTR variant) | Congenital central hypoventilation +1 more | |
| | | Microsatellite (3 prime UTR variant) | not provided +2 more | |
| | | Indel (3 prime UTR variant) | Haddad syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital central hypoventilation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital central hypoventilation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (stop lost) | Neuroblastoma, susceptibility to, 2 | |
| | | Single nucleotide variant (stop lost) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome | |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuroblastoma, susceptibility to, 2 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (nonsense) | Haddad syndrome | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |