C2676466[trait identifier] AND "NeuroMeGen, Hospital Clinico Santiago - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 495253	NM_025265.4(TSEN2):c.353_354del (p.Gln118fs)	TSEN2 (Q118fs)	Deletion (frameshift variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GLikely pathogenic
Select item 495252	NM_025265.4(TSEN2):c.1037A>G (p.Tyr346Cys)	TSEN2 (Y287C +2 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 2B	GLikely pathogenic