Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205231
rs786205231
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.800 GeneticVariation UNIPROT
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.800 GeneticVariation UNIPROT
dbSNP: rs876657389
rs876657389
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.800 GeneticVariation UNIPROT De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
dbSNP: rs876657389
rs876657389
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.800 GeneticVariation UNIPROT Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152 2015
dbSNP: rs876657390
rs876657390
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.800 GeneticVariation UNIPROT De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
dbSNP: rs876657390
rs876657390
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.800 GeneticVariation UNIPROT Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152 2015
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0040822
Disease:
Tremor 		0.010 GeneticVariation BEFREE KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A; p.Arg297Gln) in a girl with EE, ataxia, and tremor. 27733563 2016
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0543888
Disease:
Epileptic encephalopathy 		0.010 GeneticVariation BEFREE KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A; p.Arg297Gln) in a girl with EE, ataxia, and tremor. 27733563 2016
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0007758
Disease:
Cerebellar Ataxia 		0.010 GeneticVariation BEFREE Follow-up analysis of > 2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID. 27543892 2016
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0034152
Disease:
Henoch-Schoenlein Purpura 		0.010 GeneticVariation BEFREE We identified a recurrent mutation in KCNA2 (c.881G>A, p.R294H), encoding the voltage-gated K(+) -channel, KV 1.2, in two unrelated families with HSP, intellectual disability (ID), and ataxia. 27543892 2016
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0004134
Disease:
Ataxia 		0.010 GeneticVariation BEFREE Follow-up analysis of > 2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID. 27543892 2016
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Follow-up analysis of > 2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID. 27543892 2016
dbSNP: rs876657389
rs876657389
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		A 0.800 CausalMutation CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
dbSNP: rs876657390
rs876657390
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1553181282
rs1553181282
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553181323
rs1553181323
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs763353895
rs763353895
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		A 0.700 CausalMutation CLINVAR Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. 27457812 2017
dbSNP: rs1553181280
rs1553181280
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		C 0.700 CausalMutation CLINVAR
dbSNP: rs786205231
rs786205231
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		G 0.800 CausalMutation CLINVAR
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		T 0.800 CausalMutation CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563 2016
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		T 0.800 CausalMutation CLINVAR Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152 2015
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		T 0.800 CausalMutation CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
dbSNP: rs1064794738
rs1064794738
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553181301
rs1553181301
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C4225350
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Effect of sensor domain mutations on the properties of voltage-gated ion channels: molecular dynamics studies of the potassium channel Kv1.2. 21044565 2010