"Center for Reproductive Medicine, Peking University Third Hospital"[s - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978662	NM_000540.3(RYR1):c.2286del (p.Val763fs)	RYR1 (V763fs)	Deletion (frameshift variant)	Hydrops fetalis	GLikely pathogenic
Select item 159856	NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	RYR1 (R2241*)	Single nucleotide variant (nonsense)	RYR1-Related Disorders +8 more	GConflicting classifications of pathogenicity