Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746147592
rs746147592
SRPX2
0.010 GeneticVariation BEFREE The goal of this paper is to examine the role of SRPX2 variants through describing two patients with potentially pathogenic variants in SRPX2, c.751G>C (p.Ala251Pro) and c.762G>T (p.Lys254Asn) presenting with language and motor delay, intellectual disability as well as congenital anomalies. 30393191

2019
dbSNP: rs80356616
rs80356616
KCNJ11
0.010 GeneticVariation BEFREE Subjects with the V59M mutation had neurological features including motor delay. 15448106

2004