Table 3.

Pathogenic and likely pathogenic variants identified in physician-ordered gene set

Patient	Gene	Variant	Genomic Coordinates (hg37)	ACMG	Novel	Gene Set	Family Historya
4	C3	p.R161W	chr19:g.6718128G>A	LP	Yes	aHUS	No
66	C3	p.R1042L	chr19:g.6694471C>A	LP	Yes	aHUS	No
123	C3	p.K65Q	chr19:g.6719296T>G	P	Yes	aHUS	No
295	C3	p.K65Q	chr19:g.6719296T>G	P	Yes	aHUS	No
2	CD46	p.C35Y	chr1:g.207930365G>A	LP	Yes	aHUS	No
9	CD46	c.287-2A>G	chr1:g.207930883A>G	P	Yes	aHUS	No
23	CD46	c.1127+2T>G	chr1:g.207959029T>G	P	Yes	aHUS	No
35	CD46	c.287-2A>G	chr1:g.207930883A>G	P	Yes	aHUS	No
313	CFB	p.K323E	chr6:g.31916220A>G	LP	Yes	aHUS	No
113	CFH	p.D1119E	chr1:g.196714993C>G	LP	No	aHUS	No
166	CFH	p.R1210C	chr1:g.196716375C>T	LP	Yes	aHUS	No
234	CFH	p.R53H	chr1:g.196642207G>A	LP	Yes	aHUS	No
298	CFH	p.T956M	chr1:g.196709833C>T	LP	Yes	aHUS	No
267	CFH	c.3493+1G>A	chr1:g.196715130G>A	P	Yes	aHUS	No
18	CFH	c.619+1G>A	chr1:g.196646798G>A	P	Yes	aHUS	No
71	CFI	p.I370N	chr4:g.110670413A>T	LP	Yes	aHUS	No
304	CFI	p.R474*	chr4:g.110667387G>A	P	Yes	aHUS	No
85	DGKE	p.W322*,p.W322*	chr17:g.54926134G>A	P	Yes	aHUS	No
102	COL4A3	p.G695R	chr2:g.228142227G>A	LP	Yes	AS	Yes
280	COL4A4	p.G478E	chr2:g.227954610C>T	LP	Yes	AS	Yes
271	COL4A5	c.231+1G>A	chrX:g.107802384G>A	P	Yes	AS	Yes
264	COL4A5	c.4315+1G>A	chrX:g.107929360G>A	P	Yes	NPHP	No
188	NPHP4	p.K424Rfs*7	chr1:g.5993238delT	LP	Yes	NPHP	Yes
244	PKD1	p.G3326D	chr16:g.2149718C>T	LP	Yes	NPHP	Yes
252	PKD1	p.G1433R	chr16:g.2160661C>T	LP	Yes	NPHP	Yes
250	PKD1	c.9712+1G>A	chr16:g.2150166C>T	P	Yes	NPHP	Yes
273	PKD1	p.Q1203*	chr16:g.2161561G>A	P	Yes	NPHP	No
176	PKD1	p.V2569Rfs*43	chr16:g.2143887_2143888insG	P	Yes	NPHP	No
190	PKD1	p.A3082Cfs*96	chr16:g.2152218_2152219delAT	P	Yes	NPHP	Yes
225	PKD1	p.L3834Cfs*111	chr16:g.2141819delG	P	No	NPHP	Yes
245	PKD1	p.Q2900*	chr16:g.2153360G>A	P	Yes	NPHP	No
248	PKD1	p.L3999Wfs*40	chr16:g.2140892delA	P	No	NPHP	No
207	PKHD1	p.V1741M	chr6:g.51889387C>T	LP	Yes	NPHP	No
233	RPGRIP1L	p.D596Efs*5	chr16:g.53686809_53686823delinsAC	LP	No	NPHP	No
102	COL4A3	p.G695R	chr2:g.228142227G>A	LP	Yes	NS/FSGS	Yes
98	INF2	p.R177C	chr14:g.105169653C>T	LP	Yes	NS/FSGS	Yes
161	INF2	p.R177C	chr14:g.105169653C>T	LP	Yes	NS/FSGS	No
277	NPHS1	p.R743C	chr19:g.36334481G>A	LP	Yes	NS/FSGS	No
24	NPHS1	p.T847Rfs*57	chr19:g.36333146_36333149delTTAG	P	Yes	NS/FSGS	No
213	NPHS1	p.L16Gfs*3	chr19:g.36342694_36342695insCC	P	No	NS/FSGS	No
193	NPHS2	p.R138Q	chr1:g.179530462C>T	P	Yes	NS/FSGS	Yes
238	NPHS2	p.R291W	chr1:g.179521740G>A	P	Yes	NS/FSGS	No
216	WT1	p.H445R	chr11:g.32414217T>C	P	Yes	NS/FSGS	No

Variant pathogenicity assignments based upon American College of Medical Genetics and Genomics guidelines (20). ACMG, American College of Medical Genetics and Genomics; chr, chromosome; LP, likely pathogenic; aHUS, atypical hemolytic uremic syndrome; P, pathogenic; AS, Alport syndrome; NPHP, cystic renal disease and nephronophthisis; del, deletion; ins, insertion; NS, nephrotic syndrome.

^aFirst or second-degree relative with CKD or kidney transplant.