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. Author manuscript; available in PMC: 2013 Sep 4.
Published in final edited form as: Am J Med Genet A. 2012 Nov 19;0(12):3148–3158. doi: 10.1002/ajmg.a.35665

TABLE III.

Sequencing Results (Chromosomally Normal CDH Cohort)

Gene Location Position (hg19) Variant Change PolyPhen2 (score) Phenotype Inheritance
SOX7 Exon 2 10,583,367 C>A p.A350S Benign (0.014) Isolated CDH Paternal
SOX7 Exon 2 10,583,616 C>T p.G267S Benign (0.049) CDH, ASD Not maternala
SOX7 Exon 2 10,583,657 C>T p.C253Y Prob. damaging (0.975) Isolated CDH Maternal
GATA4 Enhancer 11,518,562 A>T n.a. n.a. CDH, VSD Not maternala
GATA4 Enhancer 11,518,594 A>C n.a. n.a. CDH, minor anomalies Maternal
NEIL2 Exon 2 11,628,978 delA p.R8Gfs*51 n.a. Isolated CDH Maternal
NEIL2 Exon 3 11,637,312 G>C p.S115C Benign (0.282) Isolated CDH Not maternala

n.a., not applicable.

a

Not maternal, paternal sample unavailable.