C1858351[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 847	NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)	TTBK2 (R444fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 41375	NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs)	TTBK2 (D436fs)	Microsatellite (frameshift variant)	Spinocerebellar ataxia type 11	GPathogenic
Select item 848	NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs)	TTBK2 (E429fs)	Microsatellite (frameshift variant)	Spinocerebellar ataxia type 11	GPathogenic

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