ClinVar Miner

List of variants reported as pathogenic for benign familial infantile epilepsy by OMIM

Included ClinVar conditions (18):

Autism; Seizures, benign familial infantile, 3; Episodic ataxia, type 9; Developmental and epileptic encephalopathy, 76
Benign familial infantile epilepsy
Benign familial neonatal-infantile seizures 1; Developmental and epileptic encephalopathy, 11; Intellectual disability
Benign familial neonatal-infantile seizures 1; Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; SCN2A-related generalized epilepsy with febrile seizures plus
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2
Seizures, benign familial infantile, 2
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis
Seizures, benign familial infantile, 3
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9; Complex neurodevelopmental disorder
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 1; Autism spectrum disorder; SCN2A-related generalized epilepsy with febrile seizures plus; West syndrome; Myoclonic-astatic epilepsy; Non-syndromic intellectual disability; Lennox-Gastaut syndrome; Continuous spikes and waves during sleep
Seizures, benign familial infantile, 3; SCN2A-related generalized epilepsy with febrile seizures plus
Seizures, benign familial infantile, 5

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp)	rs121917748	0.00002
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile)	rs121917751
NM_001040142.2(SCN2A):c.3007C>A (p.Leu1003Ile)	rs121917754
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe)	rs121917749
NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val)	rs121917750
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln)	rs121917752
NM_001040142.2(SCN2A):c.754A>G (p.Met252Val)	rs387906687
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys)	rs879255652
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	rs587780455
NM_145239.3(PRRT2):c.291del (p.Asn98fs)	rs730882073
NM_145239.3(PRRT2):c.629del (p.Pro210fs)	rs730882067
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.650del (p.Arg217fs)	rs730882124
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter)	rs397514579
NM_145239.3(PRRT2):c.879+5G>A	rs1596893185

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