"Ambry Genetics"[submitter] AND "MYCNOS"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2650694	NM_005378.6(MYCN):c.111C>A (p.Phe37Leu)	MYCN, MYCNOS (F37L)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2480875	NM_005378.6(MYCN):c.293G>A (p.Gly98Asp)	MYCN, MYCNOS (G98D)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2407622	NM_005378.6(MYCN):c.302G>A (p.Gly101Glu)	MYCN, MYCNOS (G101E)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GUncertain significance
Select item 2520070	NM_005378.6(MYCN):c.311G>A (p.Gly104Asp)	MYCN, MYCNOS (G104D)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2322399	NM_005378.6(MYCN):c.313C>T (p.Leu105Phe)	MYCN, MYCNOS (L105F)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2486664	NM_005378.6(MYCN):c.328del (p.Val110fs)	MYCN, MYCNOS (V110fs)	Deletion (non-coding transcript variant +3 more)	Inborn genetic diseases	GPathogenic

ClinVar