"GeneDx"[submitter] AND "ASCL1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1290391	NC_000012.12:g.102957497del	ASCL1, PAH	Deletion (intron variant)	not provided	GBenign
Select item 1229581	NM_004316.4(ASCL1):c.-197T>C	PAH, ASCL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 802888	NM_004316.4(ASCL1):c.121G>T (p.Ala41Ser)	PAH, ASCL1 (A41S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 179366	NM_004316.4(ASCL1):c.151CAG[13] (p.Gln62_Ala63insGln)	PAH, ASCL1	Microsatellite (5 prime UTR variant)	not specified +2 more	GBenign
Select item 162757	NM_004316.4(ASCL1):c.151CAG[15] (p.Gln62_Ala63insGlnGlnGln)	PAH, ASCL1	Microsatellite (5 prime UTR variant)	not specified +1 more	GBenign
Select item 162758	NM_004316.4(ASCL1):c.627C>G (p.Val209=)	ASCL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

ClinVar