Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1213060424
rs1213060424
DLG3
T 0.700 CausalMutation CLINVAR Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability. 28777483

2017
dbSNP: rs1387003933
rs1387003933
HIKESHI
G 0.700 GeneticVariation CLINVAR Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy. 28000699

2017
dbSNP: rs139515727
rs139515727
VARS2
T 0.700 GeneticVariation CLINVAR Neonatal encephalocardiomyopathy caused by mutations in VARS2. 27502409

2017
dbSNP: rs1437184398
rs1437184398
GPT2
T 0.700 CausalMutation CLINVAR A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica. 28130718

2017
dbSNP: rs149474131
rs149474131
SPG7
A 0.700 CausalMutation CLINVAR SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. 28608987

2017
dbSNP: rs150129663
rs150129663
ACO2
T 0.700 GeneticVariation CLINVAR Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. 28545339

2017
dbSNP: rs1553212545
rs1553212545
POGZ
A 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. 28480548

2017
dbSNP: rs1553245178
rs1553245178
ATP1A2
A 0.700 CausalMutation CLINVAR Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017
dbSNP: rs1553245178
rs1553245178
ATP1A2
A 0.700 CausalMutation CLINVAR An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2. 28811059

2017
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. 27598823

2017
dbSNP: rs1553608726
rs1553608726
TRAK1
C 0.700 GeneticVariation CLINVAR Developmental changes in trak-mediated mitochondrial transport in neurons. 28300646

2017
dbSNP: rs1553608726
rs1553608726
TRAK1
C 0.700 GeneticVariation CLINVAR Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy. 28364549

2017
dbSNP: rs1553631783
rs1553631783
CTNNB1
A 0.700 CausalMutation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650

2017
dbSNP: rs1553631783
rs1553631783
CTNNB1
A 0.700 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017
dbSNP: rs1553637932
rs1553637932
KIF1A
T 0.700 CausalMutation CLINVAR Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. 28362824

2017
dbSNP: rs1553637932
rs1553637932
KIF1A
T 0.700 CausalMutation CLINVAR Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine. 28835676

2017
dbSNP: rs1553637932
rs1553637932
KIF1A
T 0.700 CausalMutation CLINVAR Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. 28332297

2017
dbSNP: rs1553638309
rs1553638309
KIF1A
T 0.700 GeneticVariation CLINVAR Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. 28332297

2017
dbSNP: rs1553638309
rs1553638309
KIF1A
T 0.700 GeneticVariation CLINVAR Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine. 28835676

2017
dbSNP: rs1553638309
rs1553638309
KIF1A
T 0.700 GeneticVariation CLINVAR Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. 28362824

2017
dbSNP: rs1553666546
rs1553666546
ITPR1
A 0.700 CausalMutation CLINVAR A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. 28488678

2017
dbSNP: rs1553676901
rs1553676901
CACNA1D
C 0.700 GeneticVariation CLINVAR A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation. 28472507

2017
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. 28229249

2017
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. 28511835

2017
dbSNP: rs1553749681
rs1553749681
DOCK3
T 0.700 GeneticVariation CLINVAR Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. 28195318

2017