"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CSPG5"[ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 787017	NM_006574.4(CSPG5):c.378G>T (p.Thr126=)	CSPG5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2426158	NC_000003.11:g.(?_47422587)_(47919033_?)dup	CSPG5, DHX30 +5 more	Duplication	not provided	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance

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