"GeneDx"[submitter] AND "LOC129998914"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 1289595	NM_001282717.2(STAG3):c.1678-156_1678-154dup	LOC129998914, STAG3	Duplication (intron variant)	not provided	GBenign
Select item 1274841	NM_001282717.2(STAG3):c.1678-155_1678-154dup	LOC129998914, STAG3	Duplication (intron variant)	not provided	GBenign
Select item 1276666	NM_001282717.2(STAG3):c.1678-154del	LOC129998914, STAG3	Deletion (intron variant)	not provided	GBenign
Select item 1239897	NM_001282717.2(STAG3):c.1678-67A>G	LOC129998914, STAG3	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar