"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1707403	GRCh38/hg38 2q24.3(chr2:165155128-166062451)x1	CSRNP3, GALNT3 +15 more	Copy number loss	Epilepsy of infancy with migrating focal seizures	GPathogenic
Select item 1707404	GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1	B3GALT1, CSRNP3 +22 more	Copy number loss	West syndrome	GPathogenic
Select item 3336690	GRCh38/hg38 2q24.3(chr2:165991235-166002763)x1	LOC102724058, SCN1A	Copy number loss	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 1300200	NM_001165963.4(SCN1A):c.5489dup (p.Phe1831fs)	LOC102724058, SCN1A (F1017fs +5 more)	Duplication (frameshift variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2687761	NM_001165963.4(SCN1A):c.5469_5470del (p.Met1823fs)	LOC102724058, SCN1A (M1009fs +5 more)	Deletion (frameshift variant +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 68570	NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)	LOC102724058, SCN1A (A1772T +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +5 more	GPathogenic
Select item 3255524	NM_001165963.4(SCN1A):c.4852_4852+14del	LOC102724058, SCN1A	Deletion (splice donor variant)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 1705826	NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser)	LOC102724058, SCN1A (F1444S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 1705827	NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter)	LOC102724058, SCN1A (Y1431* +5 more)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1205323	NM_001165963.4(SCN1A):c.4338+74C>T	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1300202	NM_001165963.4(SCN1A):c.4284+1G>A	LOC102724058, SCN1A	Single nucleotide variant (splice donor variant)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3255525	NM_001165963.4(SCN1A):c.4279C>A (p.Gln1427Lys)	LOC102724058, SCN1A (Q1398K +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 1705829	NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro)	LOC102724058, SCN1A (H1364P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 530487	NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)	LOC102724058, SCN1A (S1335P +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1705825	NM_001165963.4(SCN1A):c.3880-2_3880-1del	LOC102724058, SCN1A	Deletion (splice acceptor variant)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 2687762	NM_001165963.4(SCN1A):c.3612del (p.Trp1204fs)	LOC102724058, SCN1A (W1175fs +5 more)	Deletion (frameshift variant +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 1272000	NM_001165963.4(SCN1A):c.3429+110T>A	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 36753	NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr)	LOC102724058, SCN1A (A1056T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +6 more	GBenign