Table 4 Secondary findings on parents.
From: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice
AR, Congenital deafness, hearing loss | GJB2 | NM_004004.5:c.35del [p.Gly12Valfs] homozygous | Carrier result |
AR, Complement deficiency | C9 | NM_001737.4:c.346C>T [p.Arg116*] homozygous | Carrier result |
AR, Sandhoff disease | HEXB | NM_000521.3:c.668T>C [p.Leu223Pro] NM_000521.3:c.715G>A [p.Val239Ile] | Carrier result |
AD, Familial medullary thyroid carcinoma (FMTC) | RET | NM_020975.5:c.2410G>A [p.Val804Met] | Medically actionable secondary finding |
AD, Familial hypercholesterolemia | LDLR | NM_000527.4:c.1516dup [p.Val506fs] | Medically actionable secondary finding |
AD, Increased ovarian cancer risk | BRIP1 | NM_032043.2:c.193C>T [p.Gln65Ter] | Medically actionable secondary finding |
AD, Increased breast cancer risk | PALB2 | NM_024675.3:c.1037_1041del [p. Lys346fs] | Medically actionable secondary finding |
AD, Type II antithrombin III deficiency | SERPINC1 | NM_000488.3:c.218C>T [p.Pro73Leu] | Medically actionable secondary finding |
AD, Birt–Hogg–Dube syndrome | FLCN | NM_144997.6:c.1522_1524del [p.Lys508del] | Medically actionable secondary finding |
