"GeneDx"[submitter] AND "ENTR1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 59139	GRCh38/hg38 9q34.3(chr9:136323542-136565950)x1	C9orf163, CARD9 +46 more	Copy number loss	See cases	GPathogenic
Select item 1259867	NC_000009.12:g.136410555C>T	ENTR1, PMPCA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1295434	NC_000009.12:g.136410572G>A	ENTR1, PMPCA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1263488	NC_000009.12:g.136410589C>T	ENTR1, PMPCA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

ClinVar