"GeneDx"[submitter] AND "ELL2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic
Select item 1257675	NM_012081.6(ELL2):c.317+2020G>C	ELL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277603	NM_012081.6(ELL2):c.196-4613G>A	ELL2, LOC129994245	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289561	NM_012081.6(ELL2):c.196-10307C>T	ELL2	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar