Table 4.

Pathogenic and likely pathogenic variants identified in exome reanalysis

Patient	Age (yr)	Gene	Variant	Genomic Coordinates (hg37)	Clinical Diagnosis/Indication	Initial Ordered Gene Set	Family Historya
138	75	ADAMTS13	p.D187Hb	chr9:g.136291338G>C	aHUS	aHUS	No
302	30	ADAMTS13	p.Q725*b	chr9:g.136307803C>T	Thrombocytopenia	aHUS	No
318	19	COL4A4	p.R989fs	chr2:g.227917021_227917022delCT	ESKD and thrombotic microangiopathy	aHUS	No
		p.R989fs	chr2:g.227917021_227917022delCT
79	26	EYA1	p.Y226*	chr1:g.248813510A>G	ESKD due to membranoproliferative GN	aHUS	No
231	19	PKD1	p.R3277C	chr16:g.2149956G>A	ESKD due to C3 glomerulopathy and cystic kidneys.	aHUS	No
152	74	PKD1	p.A2375Vc	chr16:g.2156891G>A	ADPKD rule out aHUS	aHUS	No
198	33	PKD2	p.R213*c	chr4:g.88940651C>T	ADPKD rule out aHUS	aHUS	Yes
219	58	PKD2	p.R213*c	chr4:g.88940651C>T	ADPKD rule out aHUS	aHUS	Yes
195	<1	REN	p.R43*	chr1:g.204131263G>A	Congenital ARF	aHUS	No
		p.R43*	chr1:g.204131263G>A
69	<1	SLC26A1	p.S358L	chr4:g.983654G>A	Neonatal aHUS	aHUS	No
	p.T185M		chr4:g.984938G>A
52	35	USH2A	p.R4935*c	chr1:g.215814065G>A	Laurence–Moon–Biedl syndrome	aHUS	No
206	9	WT1	p.R462W	chr11:g.32413566G>A	aHUS	aHUS	No
119	17	LAMB2	p.C1058fs	chr3:g.49161980_49161981delCA	Gross hematuria	AS	Yes
		NPHS2	p.R138Q	chr1:g.179530462C>T
264	15	TRPC6	p.N125S	chr11:g.101375326T>C	Collapsing FSGS and thin basement membranes	AS	No
212	<1	ANKS6	p.L434fs	chr9:g.101542538delA	Congenital renal dysplasia, heart abnormalities, and hepatosplenomegaly	NPHP	No
		c.1973-3C>G	chr9:g.101530535G>C
268	<1	PBX1	p.Q48*	chr1:g.164529201C>T	Congenital renal dysplasia	NPHP	No
168	3	WDR19	p.L92*	chr4:g.39191386T>G	Congenital absence left kidney and enlarged, dysplastic right kidney	NPHP	No
		p.N273D	chr4:g.39207283A>G
96	9	COL4A5	c.2042–2A>T	chrX:107845113A>T	Nephrotic syndrome	NS/FSGS	Yes
197	37	PAX2	p.G107R	chr10:102510464G>C	Adult-onset FSGS	NS/FSGS	Yes
281	53	UMOD	p.H177_R185del	chr16:g.20360068_20360094del	FSGS	NS/FSGS	Yes
67	64	EYA1	p.L513P	chr8:g.72127681A>G	Congenital renal dysplasia and hearing loss	GRHPR	No
134	10	BBS10	p.Y559*	chr12:g.76740088G>T	Cystic renal disease	NS/FSGS, NPHP	No
		CEP104	p.Q335*	chr1:g.3753972G>A

Variant pathogenicity assignments based upon American College of Medical Genetics and Genomics guidelines (20). chr, chromosome; aHUS, atypical hemolytic uremic syndrome; ADPKD, autosomal dominant polycystic kidney disease; AS, Alport syndrome; NPHP, cystic renal disease and nephronophthisis; NS, nephrotic syndrome.

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

^bVariants were identified in patients that underwent testing before the addition of ADAMTS13.

^cVariants are associated with an established clinical diagnosis.