C0393706[trait identifier] AND "Center of Genomic medicine, Geneva, Un - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 206837	NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)	LOC102724058, SCN1A (S1505* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
Select item 189861	NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)	LOC102724058, SCN1A (R1202* +5 more)	Single nucleotide variant (nonsense +1 more)	Seizure +4 more	GPathogenic
Select item 68505	NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)	SCN1A (R393C)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, mild +7 more	GPathogenic
Select item 375464	NM_001032221.6(STXBP1):c.1006C>T (p.Gln336Ter)	STXBP1 (Q336* +3 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 4 +2 more	GPathogenic
Select item 207119	NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)	SCN8A (G1475R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 167208	NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)	KCNQ2 (T274M)	Single nucleotide variant (missense variant)	West syndrome +3 more	GPathogenic/Likely pathogenic
Select item 205864	NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)	KCNQ2 (R144Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic/Likely pathogenic
Select item 523629	NM_001323289.2(CDKL5):c.751delinsTC (p.Ala251fs)	CDKL5 (A251fs)	Indel (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic