ClinVar for MedGen (Select 884569) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250460	NM_030787.4(CFHR5):c.361del (p.Gln121fs)	CFHR5 (Q121fs)	Deletion (frameshift variant)	C3 glomerulonephritis	GUncertain significance
Select item 402534	NM_030787.4(CFHR5):c.486dup (p.Glu163fs)	CFHR5 (E163fs)	Duplication	not specified +3 more	GConflicting classifications of pathogenicity
Select item 37236	NM_030787.4(CFHR5):c.59-1806_430+3225dup	CFHR5	Duplication (splice acceptor variant +1 more)	C3 glomerulonephritis	GPathogenic

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