"GeneReviews"[submitter] AND "CLN6"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4083	NC_000015.9:g.68504037_68504039delGAT	CLN6 (I154del)	Microsatellite (inframe_deletion)	Neuronal ceroid lipofuscinosis +4 more	GPathogenic/Likely pathogenic
Select item 4081	NM_017882.3(CLN6):c.316dup (p.Arg106fs)	CLN6 (R106fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis +2 more	GPathogenic
Select item 4077	NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)	CLN6 (E72*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +3 more	GPathogenic

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