"Medical Genetic Institute of Henan Province, Henan Provincial People’ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334772	NM_025265.4(TSEN2):c.904G>A (p.Glu302Lys)	TSEN2 (E243K +1 more)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 2B	GLikely pathogenic
Select item 1334773	NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter)	TSEN2 (R393* +2 more)	Single nucleotide variant (nonsense +2 more)	Pontoneocerebellar hypoplasia +1 more	GConflicting classifications of pathogenicity