"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CGB5"[g - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 769980	NM_033043.2(CGB5):c.72G>A (p.Pro24=)	CGB5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769981	NM_033043.2(CGB5):c.306C>T (p.Tyr102=)	CGB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2426330	NC_000019.9:g.(?_49472545)_(49714755_?)del	C19orf73, CGB1 +15 more	Deletion	Progressive familial heart block type IB	GUncertain significance
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance

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