rs1060499548 in
ABL1 gene and
Cutis marmorata
PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
rs1064795104 in
EXOC6B gene and
Cutis marmorata
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
rs587777736 in
NOTCH1 gene and
Cutis marmorata
PMID 25132448 2014 Mutations in NOTCH1 cause Adams-Oliver syndrome.