Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs863223953
rs863223953
DNM1L ; YARS2
T 0.700 CausalMutation CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000

2016
dbSNP: rs863223953
rs863223953
DNM1L ; YARS2
T 0.700 CausalMutation CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208

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: rs869312825
rs869312825
GNB1
C 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs1057516264
rs1057516264
TPP1
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1057524820
rs1057524820
SCN8A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554901898
rs1554901898
TPP1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555462347
rs1555462347
USP7
G 0.700 GeneticVariation CLINVAR