Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135402760
rs1135402760
C 0.700 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019

dbSNP: rs531630376
rs531630376
A 0.700 GeneticVariation CLINVAR Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 30459466

2019

dbSNP: rs1554297905
rs1554297905
A 0.700 CausalMutation CLINVAR De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 30500825

2018

dbSNP: rs369634007
rs369634007
G 0.700 GeneticVariation CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590

2016

dbSNP: rs869312741
rs869312741
T 0.700 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474

2016

dbSNP: rs869312742
rs869312742
C 0.700 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474

2016

dbSNP: rs1064795104
rs1064795104
C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014

dbSNP: rs1064795104
rs1064795104
C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013

dbSNP: rs267607116
rs267607116
A 0.700 CausalMutation CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009

dbSNP: rs1010184002
rs1010184002
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1014959895
rs1014959895
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518849
rs1057518849
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518921
rs1057518921
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519521
rs1057519521
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692272
rs1131692272
T 0.700 CausalMutation CLINVAR

dbSNP: rs1135402758
rs1135402758
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1135402761
rs1135402761
C 0.700 GeneticVariation CLINVAR

dbSNP: rs113871094
rs113871094
A 0.700 CausalMutation CLINVAR

dbSNP: rs1163944538
rs1163944538
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1189909394
rs1189909394
C 0.700 CausalMutation CLINVAR

dbSNP: rs121434616
rs121434616
A 0.700 CausalMutation CLINVAR

dbSNP: rs1223073957
rs1223073957
A 0.700 CausalMutation CLINVAR

dbSNP: rs1251713297
rs1251713297
A 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
C 0.700 CausalMutation CLINVAR

dbSNP: rs138632121
rs138632121
A 0.700 CausalMutation CLINVAR