"Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1012307	NM_001083116.3(PRF1):c.769T>G (p.Cys257Gly)	PRF1 (C257G)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely pathogenic
Select item 1012308	NM_001083116.3(PRF1):c.147C>A (p.Asp49Glu)	PRF1 (D49E)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely pathogenic