"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 196371	NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del)	PHOX2B, LOC110011216	Deletion	not specified +3 more	GBenign/Likely benign
Select item 259203	NM_003924.4(PHOX2B):c.591C>G (p.Gly197=)	PHOX2B	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1299866	NM_003924.4(PHOX2B):c.304C>T (p.Arg102Cys)	PHOX2B (R102C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance

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