Table 3.

Clinical Characteristics of MMD patients with RNF213 Rare Variants

Family Number	Individual ID Number	RNF213 Alteration	Ethnicity	Age at Diagnosisa	Sex (M/F)	Lateralityb	Surgical Procedurec
MM121	II-4	p.R4810K	Japanese	35	F	Bilateral	Y; 35
	II-3	p.R4810K	Japanese	2	F	Unilateral	N
	II-2	p.R4810K	Japanese	55	F	Unilateral	N
MM021	I-4	p.R4810K	Korean	26	F	Bilateral	Y; 26
MM144	II-6	p.R4810K	Korean	29	F	Unilateral	Y; 30
MM067	II-7	p.R4810K	Korean	30	F	Bilateral	Y; 31
MM081	II-8	p.R4810K	Korean	24	F	Unilateral	Y; 25
MM119	I-11	p.R4810K	Chinese	27	M	Bilateral	Y; 30
MM043	III-1	p.R4810K	Indian	6	F	Bilateral	Y; 6
MM073	III-3	p.R4810K	Bangladeshi	33	F	Bilateral	Y; 34
MM056	III-5	p.R4810K	Japanese	42	F	Bilateral	Y; 44
	III-6	p.R4810K	Japanese	45	F	Unilateral	Y; 45
	III-7	p.R4810K	Japanese	44	F	Unknown	Y; 45
MM004	II-10	p. R4019C	European American	3	M	Bilateral	Y; 3
MM089	III-9	p. I4076V	Japanese/Filipino	32	F	Bilateral	Y; 33
MM096	IV-4	p.D4013N	European American	30	M	Bilateral	Y; unk
	V-1	p.D4013N	European American	8	M	Bilateral	Y; 8
	III-4	p.D4013N	European American	30	F	Unknown	Y; 45
MM011x	IV-11	p.E4950_F4951ins7	European American	5	F	Bilateral	Y; 5
MM052x	II-1	p.K4732T	Hispanic	9 mos	M	Bilateral	Y; 10 mos
MM060x	II-2	p.V5163I	European American	8	F	Bilateral	Y; 36
MM139x	II-3	p.D4237E	Hispanic	40	F	Bilateral	Y; 41
	II-4	p.D4237E	Hispanic	40	F	Bilateral	Y; 40
MM006x	II-6	p.R3922Q	European American	5	M	Bilateral	Y; 5
	II-7	p.R3922Q	European American	2.5	F	Bilateral	Y; 2.5
MM044	II-9	p.R4019C	European American	6	M	Bilateral	Y; 7
MM042X	II-10	p.A529del	European American	50	F	Bilateral	Y;51
MM131X	II-11	p.K4115del	European American	10 mos	M	Bilateral	Y;1

^aAge of MMD onset shown in years unless otherwise indicated;

^bLaterality of MMD involvement;

^cDenotes whether a revascularization procedure has been performed for each patient and at what age (in years);

^xIndicates families in which RNF213 variants were identified through exome sequencing.