Table.

Heterozygous ZFP503 Variants Identified

Family	Variant*	Protein	Phenotype	Notes
98	c.697G>C	p. Ala233Pro	Morning glory anomaly OS. Normal brain MRI/MRA, spine x-ray, kidney ultrasound, echocardiogram	Missense; rs = 200297480; AF = 4.9E-4; S = Tol; PP = PosD; CADD = 26.1. Variant also found in unaffected mother
107	c.666C>G	p. Phe222Leu	Colobomatous microphthalmia OS; PSC OU; hemifacial microsomia; hypomelanosis of skin scoliosis	Missense; rs747667090, AF = 4.5E-0.5; S = Tol; PP = PrD; CADD = 25.6. Somatic trisomy 20 identified on skin biopsy of hypomelanotic lesion. Variant also found in father, who was phenotypically normal by history (unavailable for examination)
UK	c.70G>T	p. Gly24Ter	Rod-cone degeneration, cystoid macular edema, Bochdalek hernia	Not in gnomAD

AF, allele frequency in gnomAD database; CADD, combined annotation dependent depletion; MRA, magnetic resonance angiography; MRI, magnetic resonance imaging; OU, oculus uterque; PosD, possibly damaging; PP, PolyPhen; PrD, probably damaging; PSC, posterior subcapsular cataract; S, SIFT; Tol, tolerated.

^*Only one predicted loss-of-function heterozygous variant in an independent exome-based screen of >45,000 individuals was identified (case UK), albeit with a noncolobomatous phenotype.