C5551375[trait identifier] AND "Centre for Inherited Metabolic Disease - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205182	NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)	CLN6 (S265del)	Microsatellite (inframe_deletion)	Neuronal ceroid lipofuscinosis +4 more	GConflicting classifications of pathogenicity
Select item 1064454	NM_017882.3(CLN6):c.514T>C (p.Tyr172His)	CLN6 (Y172H)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic