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

2020
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: 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: rs121918460
rs121918460
PTPN11
G 0.700 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
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: rs1554389088
rs1554389088
CAMK2B
A 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1555639076
rs1555639076
BPTF
G 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs1555639411
rs1555639411
BPTF
TG 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs375002796
rs375002796
MDH2
T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017
dbSNP: rs776679653
rs776679653
ISCA1
T 0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563

2017
dbSNP: rs782736894
rs782736894
BPTF
G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs1114167303
rs1114167303
SON
T 0.700 GeneticVariation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016
dbSNP: rs1555743003
rs1555743003
ASXL3
A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs372949028
rs372949028
TANGO2
A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs752746786
rs752746786
GNB1
G 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs752746786
rs752746786
GNB1
T 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
G 0.700 GeneticVariation CLINVAR Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. 27756633

2016
dbSNP: rs869312822
rs869312822
GNB1
C 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs869312824
rs869312824
GNB1
G 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs886039773
rs886039773
SON
C 0.700 GeneticVariation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016
dbSNP: rs886039777
rs886039777
SON ; MIR6501
T 0.700 GeneticVariation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016
dbSNP: rs886039778
rs886039778
SON
GA 0.700 GeneticVariation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016
dbSNP: rs886039779
rs886039779
SON
A 0.700 GeneticVariation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016