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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 1235521	NM_152403.4(EGFLAM):c.685T>C (p.Trp229Arg)	EGFLAM (W229R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 60260	GRCh38/hg38 5p13.2-13.1(chr5:38397291-38433930)x1	EGFLAM, EGFLAM-AS1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 151668	GRCh38/hg38 5p13.1(chr5:38400157-38593979)x3	EGFLAM, EGFLAM-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic

ClinVar