"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "RAB40C" - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583884	NC_000016.10:g.(?_582883)_(648190_?)del	LOC100287175, LOC121530607 +18 more	Deletion	Epilepsy	GUncertain significance
Select item 774227	NM_021168.5(RAB40C):c.429G>A (p.Ala143=)	RAB40C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747292	NM_021168.5(RAB40C):c.822G>T (p.Ser274=)	RAB40C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	CCDC78, ANTKMT +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	IGFALS, MRPS34 +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	CCDC78, CHTF18 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	ANTKMT, BAIAP3 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic