"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 402497	NM_172095.4(CATSPER2):c.1179-2A>T	CATSPER2	Single nucleotide variant (intron variant +1 more)	Rare genetic deafness +2 more	GBenign
Select item 162825	NM_172095.1(CATSPER2):c.(?_718-34)_(843-857_?)del	LOC130056948, CATSPER2 +1 more	Deletion	Rare genetic deafness	GPathogenic
Select item 667392	NC_000015.10:g.(?_43638998)_(43639062_?)del	CATSPER2, LOC130056949	Deletion	Rare genetic deafness +1 more	GPathogenic
Select item 666798	NC_000015.10:g.(?_43638998)_(43639062_?)dup	CATSPER2	Duplication	not specified	GUncertain significance

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