C2677586[trait identifier] AND "Neurometabolic Diseases Laboratory, Be - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500197	NM_001166114.2(PNPLA6):c.715-2A>C	PNPLA6	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 39	GPathogenic
Select item 2500198	NM_001166114.2(PNPLA6):c.3412A>T (p.Ser1138Cys)	PNPLA6 (S1073C +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GLikely pathogenic