C5543353[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585306	NM_001165963.4(SCN1A):c.5176T>A (p.Trp1726Arg)	LOC102724058, SCN1A (W1715R +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	GLikely pathogenic
Select item 2585309	NM_001165963.4(SCN1A):c.4769T>G (p.Leu1590Arg)	LOC102724058, SCN1A (L1561R +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	GUncertain significance
Select item 2584799	NM_001165963.4(SCN1A):c.4380T>G (p.Tyr1460Ter)	LOC102724058, SCN1A (Y1432* +5 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy 6B	GLikely pathogenic
Select item 1361552	NM_001165963.4(SCN1A):c.4378T>G (p.Tyr1460Asp)	LOC102724058, SCN1A (Y1431D +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 421777	NM_001165963.4(SCN1A):c.3800T>C (p.Met1267Thr)	LOC102724058, SCN1A (M1256T +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B +1 more	GConflicting classifications of pathogenicity
Select item 206795	NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)	SCN1A (D987E +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B +3 more	GConflicting classifications of pathogenicity
Select item 197187	NM_001165963.4(SCN1A):c.602+1G>A	SCN1A	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 76 +7 more	GPathogenic