Table 2.

Rare genetic variants in CFH, CFI, CD46, C3, and CFB reported in C3G and MPGN

Gene	Effect	Variant		Gene	Effect	Variant
CFH	Complete FH deficiency (homozygous)	P88T*	[66, 74]	CFH	VUS (normal FH levels)	P26S	£
		R127L*	[73]			ΔG122-E128	[65]
		C431S	[65, 73]			D130N	[65]
		C597R	[65]			A161S	[65]
		P621Y	[75]			IVS11 + 5	[65]
		C673S	[73]			G334A	£
		Y899X	[76]			G650V	[64], £
		Y1008X	[66]			F717L	[65]
		W1096R*	£			H878Y	2
	Partial FH deficiency	P76X	[64]			A892V	3
		L77X	[65]			R1210V	[65]
		V143I	[65]		VUS (FH levels not known)	R127C	[66]
		I216T	[77]			S199G/E1172X	£
		R232X	[65], £			C431S	£
		C673R	[65]			N516K	[78]
		K768X	[76]			V609I	£
		C1043X	[65]			M725X	[79]
	Functional FH deficiency (homozygous)	R78G	[66]			V837I/E1145D	[78]
		ΔK224*	[80]			Q950H	[66]
		R53C	[65, 81]			T956M	[78] [82] [66]
	Functional FH deficiency	R83S*	[83]	C3	Gain of function	Δ923-924DG*	[84]
		R1210C	[64] [66]			I756T*	[85]
		R53C	[65] [86]			R161W	[87]
CD46	VUS	K66N	[66, 88]		VUS	R148Q	[87]
		V181M	[65]			A443S	[87]
CFI	FI deficiency	G119R	[65, 89–91]			L1100P	[87]
		A240G	[65, 92, 93]			L1318R	[87]
		C309R	[65]			V86I	[66]
		C327R	[65]			R505C	[66]
	VUS	c.1-4C > T	[66]			V619M	[66]
		G57D	[66]			G637R	[66]
	None	G261D	[65, 79, 91, 94]			R1042Q	[66]
		I306S	[65]			S1063N	[66]
CFB	Gain of function	I242L	[87]			R1303H	[66]
	VUS	D279E	[87]			R1320Q	[66]
		S367R*	[95]			D1362N	[66]
		G161R	[66]			C1518R	[66]
		H451R	[66]			D1625H	[66]
		R679W	[66]		None	K1051M	[66]

All variants heterozygous except where indicated

VUS variant of uncertain significance, FH complement factor H, FI complement factor I. * reported in familial disease, £ unpublished, Δ amino acid deletion