"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC102724058"[gen - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 498246	NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn)	LOC102724058, SCN1A (K1985N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 93661	NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)	LOC102724058, SCN1A (P1973H +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +6 more	GConflicting classifications of pathogenicity
Select item 68671	NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)	LOC102724058, SCN1A (E1946G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
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 68660	NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)	LOC102724058, SCN1A (E1784K +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GConflicting classifications of pathogenicity
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 68558	NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)	LOC102724058, SCN1A (R1634Q +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3 +5 more	GPathogenic
Select item 496120	NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile)	LOC102724058, SCN1A (V1527I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 206837	NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)	LOC102724058, SCN1A (S1505* +5 more)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic
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 194721	NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)	LOC102724058, SCN1A (A1150T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +7 more	GConflicting classifications of pathogenicity
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