"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "TSPAN6" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 742141	NM_003270.4(TSPAN6):c.396G>A (p.Gln132=)	TSPAN6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3246518	NC_000023.10:g.(?_99551275)_(100515610_?)dup	ARL13A, CENPI +11 more	Duplication	not provided	GUncertain significance
Select item 2425021	NC_000023.10:g.(?_99551275)_(101097764_?)del	RPL36A, RPL36A-HNRNPH2 +25 more	Deletion	not provided	GPathogenic
Select item 2423943	NC_000023.10:g.(?_99551275)_(100099087_?)del	CSTF2, NOX1 +5 more	Deletion	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2422282	NC_000023.10:g.(?_99551275)_(101097764_?)dup	ARL13A, ARMCX1 +25 more	Duplication	X-linked agammaglobulinemia with growth hormone deficiency +1 more	GUncertain significance
Select item 832571	NC_000023.10:g.(?_99551255)_(99905882_?)del	PCDH19, SRPX2 +2 more	Deletion	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 831118	NC_000023.10:g.(?_99551255)_(99926004_?)dup	PCDH19, SRPX2 +2 more	Duplication	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 465294	NC_000023.10:g.(?_99551255)_(99926004_?)del	PCDH19, SRPX2 +2 more	Deletion	Developmental and epileptic encephalopathy, 9 +1 more	GConflicting classifications of pathogenicity

ClinVar