Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
Species
Category
Variant Type
Molecular Consequence
Diseases
Genes
Construct Expressed Component
Construct Knockdown Component
Construct Regulatory Region
Allele/Variant Diseases: electroclinical syndrome
zh7
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-230821-6
Genes: slc1a2b (Dre)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 41
Variant Name: Not Available
Hsap\KCNT1G288S.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0399595
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 14, autosomal dominant nocturnal frontal lobe epilepsy 5
Variant Name: Not Available
Hsap\KCNT1R398Q.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0399596
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 14, autosomal dominant nocturnal frontal lobe epilepsy 5
Variant Name: Not Available
Hsap\CDK19T196A.UAS.Tag:HA
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0360423
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 87
Variant Name: Not Available
Hsap\CDK19Y32H.UAS.Tag:HA
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0360424
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 87
Variant Name: Not Available
RhoBTBHMS00411
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0248172
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 64
Variant Name: Not Available
Efhc1tm1Kzy
(Mus musculus)Allele/Variant
Source: MGI:3774032
Genes: Efhc1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: juvenile myoclonic epilepsy
Variant Name: Not Available
Scn1atm2.1Kzy
(Mus musculus)Allele/Variant
Source: MGI:5523787
Genes: Scn1a (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Dravet syndrome
Variant Name: Not Available
RhoBTBUAS.cSa
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0338007
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 64
Variant Name: Not Available
GlysGD12070
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0205248
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Lafora disease
Variant Name: Not Available
Arxtm1.1Jno
(Mus musculus)Allele/Variant
Source: MGI:4353222
Genes: Arx (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available
Kcna1Adms
(Rattus norvegicus)Allele/Variant
Source: RGD:12880383
Genes: Kcna1 (Rno)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: episodic ataxia type 1, epilepsy with generalized tonic-clonic seizures
Variant Name: Not Available
Epm2atm1Kzy
(Mus musculus)Allele/Variant
Source: MGI:2182627
Genes: Epm2a (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Lafora disease
Variant Name: Not Available
Tg(CAG-EPM2A*C266S)1Bmin
(Mus musculus)Allele/Variant
Source: MGI:6459753
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Lafora disease
Variant Name: Not Available
Cstbtm1Rm
(Mus musculus)Allele/Variant
Source: MGI:1861915
Genes: Cstb (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Unverricht-Lundborg syndrome
Variant Name: Not Available
Scarb2tm1Psa
(Mus musculus)Allele/Variant
Source: MGI:2654430
Genes: Scarb2 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: progressive myoclonus epilepsy
Variant Name: Not Available
Hsap\KCNT1R928C.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0399597
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 14, autosomal dominant nocturnal frontal lobe epilepsy 5
Variant Name: Not Available
fzrD172N.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0375825
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 109
Variant Name: Not Available
Eaat2CR00503-TG4.2
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0340605
Genes: Eaat2 (Dme)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 41
Variant Name: Not Available
Hsap\NSFA459T.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0358393
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 96
Variant Name: Not Available
pan5
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar02156978
Genes: goa-1 (Cel)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy
Variant Name: Not Available
tm4876
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar00296746
Genes: cdkr-3 (Cel)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available
Uba5KO
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0397842
Genes: Uba5 (Dme)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 44
Variant Name: Not Available
Arxtm5Kki
(Mus musculus)Allele/Variant
Source: MGI:5559563
Genes: Arx (Mmu)
Synonyms: Not Available
Variant Type: deletion, insertion
Molecular Consequence: frameshift_variant
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available
fzrN318K.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0375826
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 109
Variant Name: Not Available
D12KK100444
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0230753
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: familial adult myoclonic epilepsy 4
Variant Name: Not Available
ok3364
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar00094386
Genes: uba-5 (Cel)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: frameshift_variant, stop_lost, splice_donor_variant, splice_acceptor_variant, intron_variant
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available
Kcnt1em1Lekk
(Mus musculus)Allele/Variant
Source: MGI:7624374
Genes: Kcnt1 (Mmu)
Synonyms: Not Available
Variant Type: MNV
Molecular Consequence: missense_variant
Diseases: developmental and epileptic encephalopathy 14
Variant Name: Not Available
s3001
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-150721-10
Genes: stxbp1b (Dre)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: 5_prime_UTR_variant, start_lost
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available
paraR-C
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0370724
Genes: para (Dme)
Synonyms: Not Available
Variant Type: MNV
Molecular Consequence: missense_variant
Diseases: Dravet syndrome
Variant Name: Not Available
zu1
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-210916-8
Genes: scn1lab (Dre)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: splice_region_variant, frameshift_variant
Diseases: Dravet syndrome
Variant Name: Not Available
PheRS-mKO
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0371472
Genes: PheRS-m (Dme)
Synonyms: Not Available
Variant Type: delins
Molecular Consequence: coding_sequence_variant
Diseases: developmental and epileptic encephalopathy
Variant Name: Not Available
paraKO.attP
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0371385
Genes: para (Dme)
Synonyms: Not Available
Variant Type: delins
Molecular Consequence: 5_prime_UTR_variant
Diseases: epilepsy, Dravet syndrome
Variant Name: Not Available
Kcnt1em1Pqt
(Mus musculus)Allele/Variant
Source: MGI:7442161
Genes: Kcnt1 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: developmental and epileptic encephalopathy 14
Variant Name: Not Available
udm103
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-190107-3
Genes: gabra1 (Dre)
Synonyms: Not Available
Variant Type: delins
Molecular Consequence: frameshift_variant
Diseases: epilepsy with generalized tonic-clonic seizures
Variant Name: Not Available
Arxtm4Kki
(Mus musculus)Allele/Variant
Source: MGI:4359177
Genes: Arx (Mmu)
Synonyms: Not Available
Variant Type: delins
Molecular Consequence: inframe_insertion
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available
GαoG203R
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0385330
Genes: Gαo (Dme)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: developmental and epileptic encephalopathy 17
Variant Name: Not Available
sa734
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar00242615
Genes: goa-1 (Cel)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: stop_gained
Diseases: developmental and epileptic encephalopathy
Variant Name: Not Available
Got2em2Pcamp
(Mus musculus)Allele/Variant
Source: MGI:7464270
Genes: Got2 (Mmu)
Synonyms: Not Available
Variant Type: MNV
Molecular Consequence: missense_variant
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available
n499
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar00089556
Genes: goa-1 (Cel)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: early infantile epileptic encephalopathy
Variant Name: Not Available
Hsap\NSFP563L.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0358395
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 96
Variant Name: Not Available
Hsap\TMEM63BG580C.UAS.Tag:MYC
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0392537
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy
Variant Name: Not Available
Lgi1m1Kyo
(Rattus norvegicus)Allele/Variant
Source: RGD:12792970
Genes: Lgi1 (Rno)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: epilepsy, epilepsy with generalized tonic-clonic seizures
Variant Name: Not Available
Gnao1em1Rneu
(Mus musculus)Allele/Variant
Source: MGI:6295353
Genes: Gnao1 (Mmu)
Synonyms: Not Available
Variant Type: delins
Molecular Consequence: missense_variant
Diseases: developmental and epileptic encephalopathy 17
Variant Name: Not Available
ulv12
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar02153378
Genes: unc-18 (Cel)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: frameshift_variant
Diseases: developmental and epileptic encephalopathy
Variant Name: Not Available
Arxtm1.1Ics
(Mus musculus)Allele/Variant
Source: MGI:6195852
Genes: Arx (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: syndromic X-linked intellectual disability, early infantile epileptic encephalopathy
Variant Name: Not Available
Nhlrc1tm1.2Geno
(Mus musculus)Allele/Variant
Source: MGI:5312925
Genes: Nhlrc1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Lafora disease
Variant Name: Not Available
paraDS.S1231R
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0298796
Genes: para (Dme)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: epilepsy, Dravet syndrome
Variant Name: Not Available
Prickle1em1Yzou
(Mus musculus)Allele/Variant
Source: MGI:6885945
Genes: Prickle1 (Mmu)
Synonyms: Not Available
Variant Type: MNV
Molecular Consequence: missense_variant
Diseases: progressive myoclonus epilepsy 1B, autism spectrum disorder
Variant Name: Not Available
Cacna1atg
(Mus musculus)Allele/Variant
Source: MGI:1856209
Genes: Cacna1a (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: episodic ataxia type 2, generalized dystonia, childhood electroclinical syndrome
Variant Name: Not Available