"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CHRNB2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205062	NM_000748.3(CHRNB2):c.140G>A (p.Arg47His)	CHRNB2 (R47H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 205069	NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys)	CHRNB2 (E214K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 477015	NM_000748.3(CHRNB2):c.772C>T (p.Leu258=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 3 +3 more	GBenign/Likely benign
Select item 136770	NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=)	CHRNB2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 430409	NM_000748.3(CHRNB2):c.1338+3G>T	CHRNB2	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 191352	NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly)	CHRNB2 (R460G)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GBenign/Likely benign
Select item 158332	NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu)	CHRNB2 (F478L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +4 more	GBenign/Likely benign
Select item 1082451	NM_000748.3(CHRNB2):c.1488C>T (p.His496=)	CHRNB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign

ClinVar