"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "KATNAL2 - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 587812	NM_001387690.1(KATNAL2):c.290-5C>A	KATNAL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 587958	NM_001387690.1(KATNAL2):c.402G>A (p.Ala134=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 588292	NM_001387690.1(KATNAL2):c.649-3C>T	KATNAL2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3242804	NC_000018.9:g.(?_42281312)_(45423127_?)del	ARK2C, ARK2N +17 more	Deletion	not provided	GPathogenic
Select item 1412018	NC_000018.9:g.(?_42281312)_(45423127_?)dup	SKOR2, SLC14A1 +17 more	Duplication	Vici syndrome +1 more	GUncertain significance

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