"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "MAP2K5" - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 733231	NM_145160.3(MAP2K5):c.184+7C>T	MAP2K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776918	NM_145160.3(MAP2K5):c.586-8A>G	MAP2K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708695	NM_145160.3(MAP2K5):c.849C>T (p.Asp283=)	MAP2K5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	AAGAB, C15orf61 +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance

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