| - GRCh37:
- Chr4:41748023-41748024
- GRCh38:
- Chr4:41746006-41746007
| LOC110011216, PHOX2B | | Neuroblastoma, susceptibility to, 2, Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | Likely pathogenic
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:41747993-41747994
- GRCh38:
- Chr4:41745976-41745977
| LOC110011216, PHOX2B | | Neuroblastoma, susceptibility to, 2, Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | Pathogenic
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:41747990-41747991
- GRCh38:
- Chr4:41745973-41745974
| PHOX2B | | Neuroblastoma, susceptibility to, 2, Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | Pathogenic
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:41747902-41747903
- GRCh38:
- Chr4:41745885-41745886
| PHOX2B | P290fs | not provided, Neuroblastoma, susceptibility to, 2, Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
| Pathogenic
(Mar 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:41748118-41748119
- GRCh38:
- Chr4:41746101-41746102
| PHOX2B | | Haddad syndrome, Neuroblastoma, susceptibility to, 2, Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:41747992-41747993
- GRCh38:
- Chr4:41745975-41745976
| LOC110011216, PHOX2B | | not provided, Neuroblastoma, susceptibility to, 2, Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
| Pathogenic
(Mar 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:41749554-41749555
- GRCh38:
- Chr4:41747537-41747538
| PHOX2B | | Neuroblastoma, susceptibility to, 2, Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, Haddad syndrome
| Uncertain significance
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:41747990-41748004
- GRCh38:
- Chr4:41745973-41745987
| PHOX2B, LOC110011216 | | not specified, Hereditary cancer-predisposing syndrome, not provided,
Haddad syndrome, Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, Neuroblastoma, susceptibility to, 2
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:41748011-41748028
- GRCh38:
- Chr4:41745994-41746011
| LOC110011216, PHOX2B | | Hereditary cancer-predisposing syndrome, not specified, Haddad syndrome,
Neuroblastoma, susceptibility to, 2, Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, not provided
| Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:41748319
- GRCh38:
- Chr4:41746302
| PHOX2B | | Haddad syndrome, Hereditary cancer-predisposing syndrome, not provided,
not specified, Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, Neuroblastoma, susceptibility to, 2,
Congenital central hypoventilation, Neuroblastoma, susceptibility to, 2 | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |