"Invitae"[submitter] AND "CHI3L1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 734877	NM_001276.4(CHI3L1):c.723G>A (p.Val241=)	CHI3L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715856	NM_001276.4(CHI3L1):c.348C>A (p.Arg116=)	CHI3L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance

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