"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC110011216"[gen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 239595	NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	Haddad syndrome +5 more	GBenign/Likely benign
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 227016	NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	not provided +5 more	GBenign/Likely benign

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