Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141970897
rs141970897
C 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020

dbSNP: rs762425351
rs762425351
T 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020

dbSNP: rs1554728529
rs1554728529
C 0.700 CausalMutation CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885

2019

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

2019

dbSNP: rs797044951
rs797044951
A 0.700 CausalMutation CLINVAR Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature. 28503590

2019

dbSNP: rs1006898944
rs1006898944
T 0.700 CausalMutation CLINVAR A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. 28386937

2018

dbSNP: rs1057519632
rs1057519632
A 0.700 CausalMutation CLINVAR Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. 29021403

2018

dbSNP: rs1057519632
rs1057519632
A 0.700 CausalMutation CLINVAR Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. 29222009

2018

dbSNP: rs1242562412
rs1242562412
A 0.700 CausalMutation CLINVAR PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. 28390064

2018

dbSNP: rs1304422857
rs1304422857
A 0.700 CausalMutation CLINVAR Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients. 29160006

2018

dbSNP: rs147001633
rs147001633
T 0.700 CausalMutation CLINVAR Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. 28386848

2018

dbSNP: rs1553352926
rs1553352926
G 0.700 CausalMutation CLINVAR Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. 28589569

2018

dbSNP: rs1553352926
rs1553352926
G 0.700 CausalMutation CLINVAR BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. 28960836

2018

dbSNP: rs1553749681
rs1553749681
T 0.700 GeneticVariation CLINVAR DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. 29130632

2018

dbSNP: rs1553996876
rs1553996876
A 0.700 GeneticVariation CLINVAR Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276

2018

dbSNP: rs1554100923
rs1554100923
C 0.700 GeneticVariation CLINVAR Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. 28460589

2018

dbSNP: rs1554128999
rs1554128999
G 0.700 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892

2018

dbSNP: rs1554128999
rs1554128999
G 0.700 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605

2018

dbSNP: rs1554129039
rs1554129039
C 0.700 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892

2018

dbSNP: rs1554129039
rs1554129039
C 0.700 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605

2018

dbSNP: rs1554129113
rs1554129113
C 0.700 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605

2018

dbSNP: rs1554129113
rs1554129113
C 0.700 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892

2018

dbSNP: rs1554698878
rs1554698878
A 0.700 GeneticVariation CLINVAR Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. 28374925

2018

dbSNP: rs1554879633
rs1554879633
CG 0.700 CausalMutation CLINVAR First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review. 29160022

2018

dbSNP: rs1554931219
rs1554931219
A 0.700 GeneticVariation CLINVAR Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. 28397838

2018