| | 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 | |
| | | Deletion (non-coding transcript variant +1 more) | Haddad syndrome | |
| | | Single nucleotide variant (intron variant) | Haddad syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Haddad syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Haddad syndrome | |
| | | Deletion (intron variant) | Haddad syndrome | |
| | | Single nucleotide variant (intron variant) | Haddad syndrome | |
| | | Single nucleotide variant (intron variant) | Haddad syndrome | |
| | | Single nucleotide variant (intron variant) | Haddad syndrome | |
| | | Single nucleotide variant (intron variant) | Haddad syndrome | |
| | | Single nucleotide variant (intron variant) | Haddad syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Haddad syndrome | |
| | | Single nucleotide variant (splice donor variant) | Haddad syndrome +1 more | |
| | | Deletion (nonsense) | Congenital central hypoventilation | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome +2 more | |
| | | Single nucleotide variant (nonsense) | Haddad syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Haddad 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 (synonymous variant) | Haddad syndrome +1 more | |
| | PHOX2B, PHOX2B-AS1 (L70fs) | Duplication (frameshift 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) | Haddad syndrome | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | PHOX2B, PHOX2B-AS1 (S66fs) | Deletion (non-coding transcript variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Haddad syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Haddad syndrome | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome | |
| | | 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) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | 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 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing 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 (missense variant) | Haddad syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Haddad syndrome | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Haddad syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing 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 (missense variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital central hypoventilation +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Haddad syndrome | |
| | PHOX2B, PHOX2B-AS1 (G52fs) | Duplication (frameshift variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Neuroblastoma, susceptibility to, 2 | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome | |
| | | Single nucleotide variant (synonymous variant) | Haddad syndrome | |