C1838049[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1169560	NM_000744.7(CHRNA4):c.*534C>T	CHRNA4	Single nucleotide variant (3 prime UTR variant +1 more)	Tobacco addiction, susceptibility to +3 more	GBenign
Select item 420395	NM_000744.7(CHRNA4):c.1792A>G (p.Ile598Val)	CHRNA4 (I598V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 1 +2 more	GUncertain significance
Select item 452325	NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg)	CHRNA4 (P556R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 205031	NM_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln)	CHRNA4 (R483Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +4 more	GConflicting classifications of pathogenicity
Select item 205030	NM_000744.7(CHRNA4):c.1430C>T (p.Ala477Val)	CHRNA4 (A477V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 93426	NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 736615	NM_000744.7(CHRNA4):c.987C>T (p.Asn329=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GLikely benign
Select item 1487245	NM_000744.7(CHRNA4):c.687C>G (p.Ile229Met)	CHRNA4 (I229M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GUncertain significance
Select item 416915	NM_000744.7(CHRNA4):c.492C>T (p.Asp164=)	CHRNA4	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1303237	NM_000744.7(CHRNA4):c.448C>A (p.Gln150Lys)	CHRNA4 (Q150K)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 205046	NM_000744.7(CHRNA4):c.358C>T (p.Arg120Trp)	CHRNA4, LOC126863087 (R120W)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy 1 +3 more	GConflicting classifications of pathogenicity
Select item 136768	NM_000744.7(CHRNA4):c.76+18G>T	CHRNA4, LOC100130587	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 854387	NM_000744.7(CHRNA4):c.13G>A (p.Gly5Ser)	CHRNA4, LOC100130587 (G5S)	Single nucleotide variant (missense variant +2 more)	Tobacco addiction, susceptibility to +2 more	GConflicting classifications of pathogenicity
Select item 136767	NM_000744.7(CHRNA4):c.9A>G (p.Leu3=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	not specified +5 more	GBenign/Likely benign