"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "HSPA12B - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 715749	NM_052970.5(HSPA12B):c.67G>C (p.Val23Leu)	HSPA12B (V23L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 781749	NM_052970.5(HSPA12B):c.351C>T (p.Ser117=)	HSPA12B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	DNAAF9, FERMT1 +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 2426797	NC_000020.10:g.(?_3063276)_(3903941_?)del	ADAM33, ADISSP +19 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 1054510	NC_000020.10:g.(?_3190178)_(3903961_?)dup	ADAM33, ADISSP +14 more	Duplication	Inosine triphosphatase deficiency	GUncertain significance

ClinVar