Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554817910
rs1554817910
ZMIZ1
G 0.700 GeneticVariation CLINVAR ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. 30639322

2019
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: rs1057524157
rs1057524157
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: rs1057524157
rs1057524157
DEAF1
T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
dbSNP: rs1554333853
rs1554333853
CDK13
G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs1555743003
rs1555743003
ASXL3
A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
C 0.700 CausalMutation CLINVAR Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . 22290197

2012
dbSNP: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
C 0.700 CausalMutation CLINVAR A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. 21440262

2011
dbSNP: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
C 0.700 CausalMutation CLINVAR Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 21620353

2011
dbSNP: rs1009298200
rs1009298200
ALG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518796
rs1057518796
SYNGAP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518848
rs1057518848
TCF4
CATTG 0.700 CausalMutation CLINVAR

dbSNP: rs1057518921
rs1057518921
MED12
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057524820
rs1057524820
SCN8A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1064795760
rs1064795760
BICD2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1064797102
rs1064797102
OTUD6B ; OTUD6B-AS1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131692228
rs1131692228
ACTL6B
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692231
rs1131692231
CYFIP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1325394060
rs1325394060
HUWE1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
A 0.700 GeneticVariation CLINVAR

dbSNP: rs142239530
rs142239530
STIM1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553212868
rs1553212868
POGZ
C 0.700 CausalMutation CLINVAR