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For the clinical diagnosis, the presence of at least three CFs is required, individuals presenting with only two CFs have been categorized as VATER\/VACTERL\u2010like. The majority of VATER\/VACTERL individuals displays a renal phenotype. Hitherto, variants in <jats:italic>FGF8<\/jats:italic>, <jats:italic>FOXF1<\/jats:italic>, <jats:italic>HOXD13<\/jats:italic>, <jats:italic>LPP<\/jats:italic>, <jats:italic>TRAP1<\/jats:italic>, <jats:italic>PTEN<\/jats:italic>, and <jats:italic>ZIC3<\/jats:italic> have been associated with the VATER\/VACTERL association; however, large\u2010scale re\u2010sequencing could only confirm <jats:italic>TRAP1<\/jats:italic> and <jats:italic>ZIC3<\/jats:italic> as VATER\/VACTERL disease genes, both associated with a renal phenotype. In this study, we performed exome sequencing in 21 individuals and their families with a renal VATER\/VACTERL or VATER\/VACTERL\u2010like phenotype to identify potentially novel genetic causes. Exome analysis identified biallelic and X\u2010chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in <jats:italic>B9D1<\/jats:italic>, <jats:italic>FREM1<\/jats:italic>, <jats:italic>ZNF157<\/jats:italic>, <jats:italic>SP8<\/jats:italic>, <jats:italic>ACOT9<\/jats:italic>, and <jats:italic>TTLL11<\/jats:italic>, respectively. The online tool GeneMatcher revealed another individual with a variant in <jats:italic>ZNF157<\/jats:italic>. Our study suggests six biallelic and X\u2010chromosomal hemizygous VATER\/VACTERL disease genes implicating all six genes in the expression of human renal malformations.<\/jats:p>","DOI":"10.1002\/ajmg.a.62447","type":"journal-article","created":{"date-parts":[[2021,8,2]],"date-time":"2021-08-02T13:00:45Z","timestamp":1627909245000},"page":"3784-3792","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Exome survey of individuals affected by <scp>VATER<\/scp>\/<scp>VACTERL<\/scp> with renal phenotypes identifies phenocopies and novel candidate genes"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2789-2654","authenticated-orcid":false,"given":"Caroline M.","family":"Kolvenbach","sequence":"first","affiliation":[{"name":"Department of Medicine, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"},{"name":"Department of Pediatrics University Hospital Bonn  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