"GeneDx"[submitter] AND "SEC61B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 1261657	NM_006808.3(SEC61B):c.101+11C>G	SEC61B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241775	NM_006808.3(SEC61B):c.102-236A>G	SEC61B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183783	NM_006808.3(SEC61B):c.102-128A>G	SEC61B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233751	NM_006808.3(SEC61B):c.203+61A>G	SEC61B	Single nucleotide variant (intron 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