"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 164943	NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 239595	NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	Neuroblastoma, susceptibility to, 2 +5 more	GBenign/Likely benign
Select item 239593	NM_003924.4(PHOX2B):c.756_776del (p.Ala254_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	not provided +3 more	GBenign/Likely benign
Select item 164944	NM_003924.4(PHOX2B):c.762A>C (p.Ala254=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 227016	NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)	LOC110011216, PHOX2B	Deletion (inframe_deletion)	not specified +5 more	GBenign/Likely benign
Select item 196371	NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del)	LOC110011216, PHOX2B	Deletion	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 239592	NM_003924.4(PHOX2B):c.750G>A (p.Ala250=)	LOC110011216, PHOX2B	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 239588	NM_003924.4(PHOX2B):c.639C>G (p.Gly213=)	PHOX2B	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 227015	NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)	PHOX2B	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 227014	NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)	PHOX2B	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 2 +6 more	GBenign/Likely benign
Select item 259202	NM_003924.4(PHOX2B):c.288C>G (p.Arg96=)	PHOX2B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 239587	NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)	PHOX2B, PHOX2B-AS1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign