"GeneDx"[submitter] AND "LOC110673972"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 151995	GRCh38/hg38 8q24.3(chr8:142763122-142880038)x3	CYP11B1, GML +8 more	Copy number gain	See cases	GLikely benign
Select item 151078	GRCh38/hg38 8q24.3(chr8:142809777-142910556)x3	CYP11B1, GML +4 more	Copy number gain	See cases	GUncertain significance
Select item 430492	NM_000497.4(CYP11B1):c.52del (p.Leu18fs)	CYP11B1, LOC110673972 (L18fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1253425	NC_000008.11:g.142880001TCC[2]	CYP11B1, LOC110673972	Microsatellite	not provided	GBenign

ClinVar