"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "IST1"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 775376	NM_001270975.2(IST1):c.510A>G (p.Ala170=)	IST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2886490	NM_001270975.2(IST1):c.759+9_759+10insAGTGTG	IST1	Insertion (intron variant)	not provided	GLikely benign
Select item 768785	NM_001270975.2(IST1):c.759+9_759+10insAG	IST1	Insertion (intron variant)	not provided	GBenign
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	COG4, AARS1 +27 more	Deletion	not provided	GPathogenic
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1441673	NC_000016.9:g.(?_69680960)_(72146396_?)dup	AARS1, AP1G1 +37 more	Duplication	Immunodeficiency	GUncertain significance

ClinVar