"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "FBXL22" - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 718672	NM_203373.3(FBXL22):c.739C>T (p.Gln247Ter)	FBXL22 (Q247*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2424797	NC_000015.9:g.(?_62146656)_(64747263_?)del	APH1B, C2CD4A +19 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 833184	NC_000015.10:g.(?_63042820)_(63869153_?)dup	APH1B, CA12 +7 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance

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