"3billion"[submitter] AND "TBCK"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327512	NM_001163435.3(TBCK):c.2130C>G (p.Tyr710Ter)	TBCK (Y538* +3 more)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 183338	NM_001163435.3(TBCK):c.1897+1G>A	TBCK	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +2 more	GPathogenic