ClinVar for MedGen (Select 1794285) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254839	NM_003924.4(PHOX2B):c.666_667del (p.Ala223fs)	PHOX2B (A223fs)	Deletion (frameshift variant)	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	GPathogenic
Select item 3066323	NM_003924.4(PHOX2B):c.344_347dup (p.Phe117fs)	PHOX2B (F117fs)	Duplication (frameshift variant)	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	GLikely pathogenic
Select item 2684393	NM_003924.4(PHOX2B):c.609_610delinsA (p.Asn203fs)	PHOX2B (N203fs)	Indel (frameshift variant)	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	GLikely pathogenic
Select item 2500234	NM_003924.4(PHOX2B):c.745_746insGGCGGCCGCGGC (p.Ala249delinsGlyArgProArgPro)	LOC110011216, PHOX2B	Insertion (inframe_indel)	Neuroblastoma, susceptibility to, 2 +1 more	GLikely pathogenic
Select item 2500070	NM_003924.4(PHOX2B):c.775_776insGGCGGCAGCGGCAGCGGCGGC (p.Ala259delinsGlyArgGlnArgGlnArgArgPro)	LOC110011216, PHOX2B	Insertion (inframe_indel)	Neuroblastoma, susceptibility to, 2 +1 more	GPathogenic
Select item 2500068	NM_003924.4(PHOX2B):c.778_779insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC (p.Ala260delinsGlyArgArgArgGlnArgGlnArgArgGlnPro)	PHOX2B	Insertion (inframe_indel)	Neuroblastoma, susceptibility to, 2 +1 more	GPathogenic
Select item 987239	NM_003924.4(PHOX2B):c.866dup (p.Pro290fs)	PHOX2B (P290fs)	Duplication (frameshift variant)	Neuroblastoma, susceptibility to, 2 +2 more	GPathogenic
Select item 986849	NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup)	LOC110011216, PHOX2B	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 646058	NM_003924.4(PHOX2B):c.639CGG[5] (p.Gly217dup)	PHOX2B	Microsatellite (inframe_insertion)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 505021	NM_003924.4(PHOX2B):c.753_767dup (p.Ala256_Ala260dup)	LOC110011216, PHOX2B	Duplication (inframe_insertion)	not provided +3 more	GPathogenic
Select item 452239	NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup)	LOC110011216, PHOX2B	Duplication (inframe_insertion)	Congenital central hypoventilation +3 more	GPathogenic
Select item 406405	NM_003924.4(PHOX2B):c.242-5_242-2dup	PHOX2B	Duplication (splice acceptor variant)	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease +2 more	GUncertain significance
Select item 239595	NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	not provided +5 more	GBenign/Likely benign
Select item 227016	NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 227014	NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)	PHOX2B	Single nucleotide variant (synonymous variant)	Haddad syndrome +6 more	GBenign/Likely benign
Select item 179366	NM_004316.4(ASCL1):c.151CAG[13] (p.Gln62_Ala63insGln)	ASCL1, PAH	Microsatellite (inframe_insertion +1 more)	not provided +2 more	GBenign