ClinVar Miner

List of variants in gene combination MVP-DT, PRRT2 reported as pathogenic for benign familial infantile epilepsy

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_145239.3(PRRT2):c.880-34G>A	rs1239450803	0.00001
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val)	rs1301400509	0.00001
NM_145239.3(PRRT2):c.-65-1G>A	rs1900052727
NM_145239.3(PRRT2):c.291del (p.Asn98fs)	rs730882073
NM_145239.3(PRRT2):c.397del (p.Glu133fs)
NM_145239.3(PRRT2):c.46G>T (p.Glu16Ter)
NM_145239.3(PRRT2):c.629del (p.Pro210fs)	rs730882067
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter)	rs77838305
NM_145239.3(PRRT2):c.649del (p.Arg217fs)	rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.650del (p.Arg217fs)	rs730882124
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)	rs387907126
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter)	rs397514579
NM_145239.3(PRRT2):c.879+5G>A	rs1596893185
NM_145239.3(PRRT2):c.971del (p.Gly324fs)	rs796052941

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