ClinVar for MedGen (Select 98312) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340540	CPN1, THR245MET	CPN1	Variation	Anaphylotoxin inactivator deficiency	GPathogenic
Select item 6623	NM_001308.3(CPN1):c.533G>A (p.Gly178Asp)	CPN1 (G178D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 6622	NM_001308.3(CPN1):c.173dup (p.His59fs)	CPN1 (H59fs)	Duplication (frameshift variant)	Anaphylotoxin inactivator deficiency	GPathogenic

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