U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHOX2B
(N203fs)
Indel
(frameshift variant)
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
GLikely pathogenic
LOC110011216, PHOX2B
Insertion
(inframe_indel)
Neuroblastoma, susceptibility to, 2
+1 more
GLikely pathogenic
LOC110011216, PHOX2B
Insertion
(inframe_indel)
Neuroblastoma, susceptibility to, 2
+1 more
GPathogenic
PHOX2B
Insertion
(inframe_indel)
Neuroblastoma, susceptibility to, 2
+1 more
GPathogenic
PHOX2B
(P290fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
LOC110011216, PHOX2B
Duplication
(inframe_insertion)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
PHOX2B
Microsatellite
(inframe_insertion)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
LOC110011216, PHOX2B
Duplication
(inframe_insertion)
not provided
+3 more
GPathogenic
PHOX2B
Duplication
(splice acceptor variant)
Haddad syndrome
+2 more
GUncertain significance
LOC110011216, PHOX2B
Deletion
(inframe_deletion)
not provided
+5 more
GBenign/Likely benign
LOC110011216, PHOX2B
Deletion
(inframe_deletion)
Neuroblastoma, susceptibility to, 2
+5 more
GBenign/Likely benign
PHOX2B
Single nucleotide variant
(synonymous variant)
Congenital central hypoventilation
+6 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination