Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517686
rs1057517686
ATAD3A
0.710 GeneticVariation BEFREE We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. 27640307

2016
dbSNP: rs1057517686
rs1057517686
ATAD3A
T 0.710 GeneticVariation CLINVAR We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. 27640307

2016
dbSNP: rs1057519429
rs1057519429
CACNA1A
G 0.710 GeneticVariation CLINVAR

dbSNP: rs1057519429
rs1057519429
CACNA1A
0.710 GeneticVariation BEFREE Exome sequencing in five individuals with severe early onset ataxia identified one novel variant (p.R1673P), in a girl with global developmental delay and progressive cerebellar atrophy, and a recurrent, de novo p.R1664Q variant, in four individuals with global developmental delay, hypotonia, and ophthalmologic abnormalities. 28742085

2017
dbSNP: rs369867819
rs369867819
LRRC32 ; LOC107984360
A 0.710 GeneticVariation CLINVAR

dbSNP: rs369867819
rs369867819
LRRC32 ; LOC107984360
0.710 GeneticVariation BEFREE We identified a homozygous stop-gain variant in LRRC32 (c.1630C>T; p.(Arg544Ter)) in two families with developmental delay, cleft palate, and proliferative retinopathy. 30976112

2019
dbSNP: rs1010184002
rs1010184002
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516037
rs1057516037
HDAC8
AC 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057516264
rs1057516264
TPP1
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518699
rs1057518699
LAS1L
A 0.700 GeneticVariation CLINVAR X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381

2016
dbSNP: rs1057518776
rs1057518776
DYNC1H1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518786
rs1057518786
SYNGAP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518789
rs1057518789
CREBBP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518796
rs1057518796
SYNGAP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518843
rs1057518843
GALC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518913
rs1057518913
EHMT1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518918
rs1057518918
ARID1B
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518921
rs1057518921
MED12
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518932
rs1057518932
EFTUD2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518961
rs1057518961
DYNC1H1
T 0.700 GeneticVariation CLINVAR

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: 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: rs1060499687
rs1060499687
GNPTAB
AT 0.700 GeneticVariation CLINVAR