C0036572[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 205066	NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr)	CHRNB2 (K110T)	Single nucleotide variant (missense variant)	Seizure +6 more	GConflicting classifications of pathogenicity
Select item 206978	NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile)	SCN2A (S987I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +5 more	GPathogenic/Likely pathogenic
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 375465	NM_000742.4(CHRNA2):c.289G>A (p.Asp97Asn)	CHRNA2 (D97N)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 279678	NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	ANKRD11 (K635fs)	Microsatellite (frameshift variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 433179	NM_015338.6(ASXL1):c.664G>A (p.Glu222Lys)	ASXL1 (E222K)	Single nucleotide variant (missense variant +1 more)	Seizure +6 more	GUncertain significance
Select item 279598	NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	ADNP (R730*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic