Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. 28771251

2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
G 0.700 CausalMutation CLINVAR Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype. 30236074

2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
G 0.700 CausalMutation CLINVAR CO2-sensitive tRNA modification associated with human mitochondrial disease. 29760464

2018
dbSNP: rs869312667
rs869312667
NBEA
T 0.700 GeneticVariation CLINVAR NBEA: Developmental disease gene with early generalized epilepsy phenotypes. 30269351

2018
dbSNP: rs878853169
rs878853169
NBEA
T 0.700 GeneticVariation CLINVAR NBEA: Developmental disease gene with early generalized epilepsy phenotypes. 30269351

2018
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: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238

2017
dbSNP: rs113994097
rs113994097
POLG
G 0.700 CausalMutation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
dbSNP: rs121912707
rs121912707
ALDH7A1
G 0.700 CausalMutation CLINVAR Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. 29056246

2017
dbSNP: rs1287121256
rs1287121256
CAMK2A
G 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554434435
rs1554434435
CAMK2B
A 0.700 GeneticVariation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554943158
rs1554943158
DEAF1
C 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: rs1554944271
rs1554944271
DEAF1
G 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: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
A 0.700 GeneticVariation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397

2017
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
A 0.700 GeneticVariation CLINVAR The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 28252636

2017
dbSNP: rs1564367605
rs1564367605
KCNT1
A 0.700 GeneticVariation CLINVAR Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy. 28488083

2017
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
T 0.700 GeneticVariation CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687

2017
dbSNP: rs926027867
rs926027867
CAMK2A
A 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs104894718
rs104894718
SCN1B
G 0.700 CausalMutation CLINVAR The goal of this study was to compare mice heterozygous for Scn1b-C121W (Scn1b(+/W)) with mice heterozygous for the Scn1b-null allele (Scn1b(+/-)) to determine whether the C121W mutation results in loss-of-function in vivo We found that Scn1b(+/W) mice were more susceptible than Scn1b(+/-) and Scn1b(+/+) mice to hyperthermia-induced convulsions, a model of pediatric febrile seizures. 27277800

2016
dbSNP: rs1057516032
rs1057516032
ATP1A3
GA 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464

2016
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972

2016