Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: rs369867819
rs369867819
LRRC32 ; LOC107984360
A 0.710 GeneticVariation CLINVAR

dbSNP: rs1135402760
rs1135402760
BRSK2
C 0.700 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
dbSNP: rs1447313633
rs1447313633
ZNF142
C 0.700 GeneticVariation CLINVAR Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 31036918

2019
dbSNP: rs1554817910
rs1554817910
ZMIZ1
G 0.700 GeneticVariation CLINVAR ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. 30639322

2019
dbSNP: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
A 0.700 CausalMutation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019
dbSNP: rs1559296368
rs1559296368
ZNF142
A 0.700 GeneticVariation CLINVAR Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 31036918

2019
dbSNP: rs1562846694
rs1562846694
TFR2 ; ACTL6B
G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736

2019
dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019
dbSNP: rs546151500
rs546151500
ZNF142
A 0.700 GeneticVariation CLINVAR Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 31036918

2019
dbSNP: rs1034395178
rs1034395178
LZTR1
A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1555582065
rs1555582065
UBTF ; LOC101926967
T 0.700 GeneticVariation CLINVAR A recurrent de novo missense mutation in UBTF causes developmental neuroregression. 29300972

2018
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
A 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519566
rs1057519566
MDH2
T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017
dbSNP: rs1057519567
rs1057519567
MDH2
T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

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: 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: rs1114167445
rs1114167445
SPTBN4
T 0.700 CausalMutation CLINVAR A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. 28540413

2017
dbSNP: rs1135401778
rs1135401778
BPTF
C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017