C5543353[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 423837	NM_001165963.4(SCN1A):c.5851G>T (p.Ala1951Ser)	LOC102724058, SCN1A (A1940S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 189896	NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)	LOC102724058, SCN1A (R1881* +5 more)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GPathogenic
Select item 68570	NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)	LOC102724058, SCN1A (A1772T +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B +5 more	GPathogenic
Select item 839613	NM_001165963.4(SCN1A):c.5092G>A (p.Glu1698Lys)	LOC102724058, SCN1A (E1670K +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B +4 more	GUncertain significance
Select item 167639	NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)	LOC102724058, SCN1A (R1234* +5 more)	Single nucleotide variant (nonsense +1 more)	Migraine, familial hemiplegic, 3 +6 more	GPathogenic
Select item 206729	NM_001165963.4(SCN1A):c.3705+12T>G	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 3 +6 more	GBenign/Likely benign
Select item 957895	NM_001165963.4(SCN1A):c.3478G>A (p.Gly1160Ser)	LOC102724058, SCN1A (G1148S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GConflicting classifications of pathogenicity
Select item 206796	NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser)	LOC102724058, SCN1A (F1022S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GUncertain significance
Select item 1007573	NM_001165963.4(SCN1A):c.2477A>G (p.Tyr826Cys)	SCN1A (Y12C +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GUncertain significance
Select item 1492924	NM_001165963.4(SCN1A):c.2415+9A>G	SCN1A	Single nucleotide variant (5 prime UTR variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GLikely benign
Select item 331890	NM_001165963.4(SCN1A):c.2177-11dup	SCN1A	Duplication (intron variant)	not specified +7 more	GBenign
Select item 1359475	NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly)	SCN1A (A485G +1 more)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2 +4 more	GConflicting classifications of pathogenicity
Select item 620251	NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter)	SCN1A (K452*)	Single nucleotide variant (nonsense +2 more)	not provided +4 more	GPathogenic
Select item 839612	NM_001165963.4(SCN1A):c.886A>G (p.Ile296Val)	SCN1A (I296V)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy 6B +4 more	GConflicting classifications of pathogenicity
Select item 960282	NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter)	SCN1A (W280*)	Single nucleotide variant (nonsense +2 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic
Select item 1418113	NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser)	SCN1A (G271S)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2 +4 more	GPathogenic/Likely pathogenic
Select item 68578	NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	SCN1A (T226M)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +6 more	GPathogenic
Select item 257623	NM_001165963.4(SCN1A):c.602+6_602+7dup	SCN1A	Duplication (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +6 more	GBenign/Likely benign
Select item 568871	NM_001165963.4(SCN1A):c.542A>G (p.Glu181Gly)	SCN1A (E181G)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GUncertain significance
Select item 206914	NM_001165963.4(SCN1A):c.141del (p.Asn47fs)	SCN1A (N47fs)	Deletion (frameshift variant +2 more)	not provided +4 more	GPathogenic
Select item 206802	NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys)	SCN1A (R28C)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2 +5 more	GConflicting classifications of pathogenicity

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Items: 21