C2749936[trait identifier] AND "Paris Brain Institute, Inserm - ICM"[s - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 989004	NM_007175.8(ERLIN2):c.799A>G (p.Lys267Glu)	ERLIN2 (K267E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 18	GPathogenic
Select item 989005	NM_007175.8(ERLIN2):c.819G>A (p.Lys273=)	ERLIN2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 18	GPathogenic
Select item 989006	NM_007175.8(ERLIN2):c.877A>G (p.Ser293Gly)	ERLIN2 (S293G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 18	GPathogenic

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