Table 4.

Pathogenic and likely pathogenic variants identified in exome reanalysis

PatientAge (yr)GeneVariantGenomic Coordinates (hg37)Clinical Diagnosis/IndicationInitial Ordered Gene SetFamily Historya
13875ADAMTS13p.D187Hbchr9:g.136291338G>CaHUSaHUSNo
30230ADAMTS13p.Q725*bchr9:g.136307803C>TThrombocytopeniaaHUSNo
31819COL4A4p.R989fschr2:g.227917021_227917022delCTESKD and thrombotic microangiopathyaHUSNo
p.R989fschr2:g.227917021_227917022delCT
7926EYA1p.Y226*chr1:g.248813510A>GESKD due to membranoproliferative GNaHUSNo
23119PKD1p.R3277Cchr16:g.2149956G>AESKD due to C3 glomerulopathy and cystic kidneys.aHUSNo
15274PKD1p.A2375Vcchr16:g.2156891G>AADPKD rule out aHUSaHUSNo
19833PKD2p.R213*cchr4:g.88940651C>TADPKD rule out aHUSaHUSYes
21958PKD2p.R213*cchr4:g.88940651C>TADPKD rule out aHUSaHUSYes
195<1RENp.R43*chr1:g.204131263G>ACongenital ARFaHUSNo
p.R43*chr1:g.204131263G>A
69<1SLC26A1p.S358Lchr4:g.983654G>ANeonatal aHUSaHUSNo
p.T185Mchr4:g.984938G>A
5235USH2Ap.R4935*cchr1:g.215814065G>ALaurence–Moon–Biedl syndromeaHUSNo
2069WT1p.R462Wchr11:g.32413566G>AaHUSaHUSNo
11917LAMB2p.C1058fschr3:g.49161980_49161981delCAGross hematuriaASYes
NPHS2p.R138Qchr1:g.179530462C>T
26415TRPC6p.N125Schr11:g.101375326T>CCollapsing FSGS and thin basement membranesASNo
212<1ANKS6p.L434fschr9:g.101542538delACongenital renal dysplasia, heart abnormalities, and hepatosplenomegalyNPHPNo
c.1973-3C>Gchr9:g.101530535G>C
268<1PBX1p.Q48*chr1:g.164529201C>TCongenital renal dysplasiaNPHPNo
1683WDR19p.L92*chr4:g.39191386T>GCongenital absence left kidney and enlarged, dysplastic right kidneyNPHPNo
p.N273Dchr4:g.39207283A>G
969COL4A5c.2042–2A>TchrX:107845113A>TNephrotic syndromeNS/FSGSYes
19737PAX2p.G107Rchr10:102510464G>CAdult-onset FSGSNS/FSGSYes
28153UMODp.H177_R185delchr16:g.20360068_20360094delFSGSNS/FSGSYes
6764EYA1p.L513Pchr8:g.72127681A>GCongenital renal dysplasia and hearing lossGRHPRNo
13410BBS10p.Y559*chr12:g.76740088G>TCystic renal diseaseNS/FSGS, NPHPNo
CEP104p.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.

  • a First or second-degree relative with CKD or kidney transplant.

  • b Variants were identified in patients that underwent testing before the addition of ADAMTS13.

  • c Variants are associated with an established clinical diagnosis.