"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CAPN15" - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 778578	NM_005632.3(CAPN15):c.1450-4G>A	CAPN15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708589	NM_005632.3(CAPN15):c.2709G>T (p.Pro903=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708590	NM_005632.3(CAPN15):c.2718G>C (p.Pro906=)	CAPN15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	C1QTNF8, CACNA1H +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	MRPL28, MSLN +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	ABCA3, ADCY9 +170 more	Duplication	Hyperaldosteronism, familial, type IV +3 more	GUncertain significance
Select item 2425036	NC_000016.9:g.(?_256302)_(633035_?)del	ARHGDIG, AXIN1 +13 more	Deletion	Epilepsy	GPathogenic
Select item 2425034	NC_000016.9:g.(?_289853)_(626274_?)dup	ARHGDIG, AXIN1 +12 more	Duplication	Epilepsy	GUncertain significance