Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
A 0.700 CausalMutation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
dbSNP: rs1554904772
rs1554904772
BRSK2
A 0.700 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
dbSNP: rs1567368243
rs1567368243
SIN3A
GT 0.700 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019
dbSNP: rs1554297905
rs1554297905
RALA
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: rs1057519565
rs1057519565
DEAF1
T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1554943158
rs1554943158
DEAF1
C 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1554944271
rs1554944271
DEAF1
G 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1555649483
rs1555649483
BPTF
A 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs387907144
rs387907144
ARID1B
T 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
dbSNP: rs1553368900
rs1553368900
NRXN1
A 0.700 GeneticVariation CLINVAR Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. 23533028

2013
dbSNP: rs1553368900
rs1553368900
NRXN1
A 0.700 GeneticVariation CLINVAR Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. 22617343

2012
dbSNP: rs387907144
rs387907144
ARID1B
T 0.700 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012
dbSNP: rs1057518850
rs1057518850
FMR1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057524237
rs1057524237
COL11A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1085308042
rs1085308042
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1085308044
rs1085308044
PTEN ; KLLN
C 0.700 CausalMutation CLINVAR

dbSNP: rs1085308045
rs1085308045
PTEN
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308046
rs1085308046
PTEN
C 0.700 CausalMutation CLINVAR

dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308048
rs1085308048
PTEN
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308050
rs1085308050
PTEN
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1085308051
rs1085308051
PTEN
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308052
rs1085308052
PTEN
CT 0.700 CausalMutation CLINVAR

dbSNP: rs1085308054
rs1085308054
PTEN
C 0.700 CausalMutation CLINVAR