"Ambry Genetics"[submitter] AND "CHRNA2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 204977	NM_000742.4(CHRNA2):c.1568C>T (p.Pro523Leu)	CHRNA2 (P523L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1464404	NM_000742.4(CHRNA2):c.1555C>T (p.Leu519Phe)	CHRNA2 (L321F +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 362693	NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=)	CHRNA2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 543534	NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg)	CHRNA2 (W506R +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GUncertain significance
Select item 204950	NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=)	CHRNA2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1773485	NM_000742.4(CHRNA2):c.1478_1499del (p.Trp493fs)	CHRNA2 (W334fs +3 more)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 1006054	NM_000742.4(CHRNA2):c.1468A>G (p.Lys490Glu)	CHRNA2 (K292E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 204975	NM_000742.4(CHRNA2):c.1464G>A (p.Ser488=)	CHRNA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 589859	NM_000742.4(CHRNA2):c.1463C>T (p.Ser488Leu)	CHRNA2 (S488L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2551388	NM_000742.4(CHRNA2):c.1442G>T (p.Arg481Leu)	CHRNA2 (R322L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 646040	NM_000742.4(CHRNA2):c.1441C>T (p.Arg481Trp)	CHRNA2 (R283W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 377667	NM_000742.4(CHRNA2):c.1437C>T (p.His479=)	CHRNA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 136753	NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)	CHRNA2 (D478E +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +4 more	GConflicting classifications of pathogenicity
Select item 1102310	NM_000742.4(CHRNA2):c.1431C>T (p.Ala477=)	CHRNA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 625918	NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly)	CHRNA2 (V473G +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4 +2 more	GConflicting classifications of pathogenicity
Select item 2542997	NM_000742.4(CHRNA2):c.1417G>A (p.Val473Met)	CHRNA2 (V275M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239403	NM_000742.4(CHRNA2):c.1397T>C (p.Met466Thr)	CHRNA2 (M451T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263186	NM_000742.4(CHRNA2):c.1327del (p.His443fs)	CHRNA2 (H428fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 128737	NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=)	CHRNA2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 2619867	NM_000742.4(CHRNA2):c.1304C>A (p.Thr435Asn)	CHRNA2 (T276N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 846007	NM_000742.4(CHRNA2):c.1275T>A (p.Cys425Ter)	CHRNA2 (C266* +3 more)	Single nucleotide variant (nonsense)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GUncertain significance
Select item 3144614	NM_000742.4(CHRNA2):c.1270G>T (p.Ala424Ser)	CHRNA2 (A409S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 421521	NM_000742.4(CHRNA2):c.1270G>A (p.Ala424Thr)	CHRNA2 (A424T +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 1141531	NM_000742.4(CHRNA2):c.1257G>A (p.Glu419=)	CHRNA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 543544	NM_000742.4(CHRNA2):c.1248G>C (p.Val416=)	CHRNA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 763212	NM_000742.4(CHRNA2):c.1245G>C (p.Val415=)	CHRNA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 128736	NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys)	CHRNA2 (E412K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 844760	NM_000742.4(CHRNA2):c.1159G>A (p.Val387Met)	CHRNA2 (V228M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2301168	NM_000742.4(CHRNA2):c.1154C>G (p.Pro385Arg)	CHRNA2 (P226R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 841697	NM_000742.4(CHRNA2):c.1145G>A (p.Arg382Gln)	CHRNA2 (R367Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1728522	NM_000742.4(CHRNA2):c.1131G>A (p.Trp377Ter)	CHRNA2 (W218* +3 more)	Single nucleotide variant (nonsense)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 204970	NM_000742.4(CHRNA2):c.1123C>G (p.Pro375Ala)	CHRNA2 (P375A +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 543528	NM_000742.4(CHRNA2):c.1117T>C (p.Cys373Arg)	CHRNA2 (C373R +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 587981	NM_000742.4(CHRNA2):c.1105dup (p.Ala369fs)	CHRNA2 (A171fs +3 more)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 362695	NM_000742.4(CHRNA2):c.1099C>T (p.Arg367Trp)	CHRNA2 (R367W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1150430	NM_000742.4(CHRNA2):c.1098G>A (p.Val366=)	CHRNA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 204969	NM_000742.4(CHRNA2):c.1084A>T (p.Met362Leu)	CHRNA2 (M362L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1786933	NM_000742.4(CHRNA2):c.1083C>A (p.Thr361=)	CHRNA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1782717	NM_000742.4(CHRNA2):c.1069C>T (p.Pro357Ser)	CHRNA2 (P198S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 204967	NM_000742.4(CHRNA2):c.1064G>A (p.Arg355His)	CHRNA2 (R355H +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 377666	NM_000742.4(CHRNA2):c.1059C>T (p.His353=)	CHRNA2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 575518	NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser)	CHRNA2 (N351S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1467113	NM_000742.4(CHRNA2):c.1019C>T (p.Thr340Ile)	CHRNA2 (T181I +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 425440	NM_000742.4(CHRNA2):c.1015G>A (p.Val339Ile)	CHRNA2 (V339I +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GUncertain significance
Select item 1552340	NM_000742.4(CHRNA2):c.1014C>T (p.Phe338=)	CHRNA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 384605	NM_000742.4(CHRNA2):c.966G>A (p.Ser322=)	CHRNA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 136751	NM_000742.4(CHRNA2):c.930C>T (p.Phe310=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GBenign/Likely benign
Select item 2267371	NM_000742.4(CHRNA2):c.929T>A (p.Phe310Tyr)	CHRNA2 (F295Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 128742	NM_000742.4(CHRNA2):c.913C>T (p.Leu305=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy +4 more	GBenign
Select item 642608	NM_000742.4(CHRNA2):c.906G>A (p.Ser302=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GLikely benign
Select item 1118280	NM_000742.4(CHRNA2):c.900C>T (p.Cys300=)	CHRNA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2483425	NM_000742.4(CHRNA2):c.881G>A (p.Gly294Asp)	CHRNA2 (G96D +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 1397610	NM_000742.4(CHRNA2):c.880G>A (p.Gly294Ser)	CHRNA2 (G279S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 166881	NM_000742.4(CHRNA2):c.873C>T (p.Ser291=)	CHRNA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 392001	NM_000742.4(CHRNA2):c.869C>T (p.Pro290Leu)	CHRNA2 (P290L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1764277	NM_000742.4(CHRNA2):c.867G>C (p.Leu289=)	CHRNA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2234658	NM_000742.4(CHRNA2):c.784C>T (p.Arg262Trp)	CHRNA2 (R247W +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4 +1 more	GUncertain significance
Select item 3267165	NM_000742.4(CHRNA2):c.773C>A (p.Ala258Asp)	CHRNA2 (A243D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267163	NM_000742.4(CHRNA2):c.772G>T (p.Ala258Ser)	CHRNA2 (A258S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 476995	NM_000742.4(CHRNA2):c.772G>A (p.Ala258Thr)	CHRNA2 (A258T +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GLikely benign
Select item 128741	NM_000742.4(CHRNA2):c.771C>T (p.Tyr257=)	CHRNA2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 3267162	NM_000742.4(CHRNA2):c.770A>T (p.Tyr257Phe)	CHRNA2 (Y98F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 948299	NM_000742.4(CHRNA2):c.767C>T (p.Thr256Ile)	CHRNA2 (T97I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3267161	NM_000742.4(CHRNA2):c.763G>A (p.Val255Ile)	CHRNA2 (V96I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1431574	NM_000742.4(CHRNA2):c.752T>C (p.Ile251Thr)	CHRNA2 (I236T +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 204946	NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr)	CHRNA2 (A249T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1758411	NM_000742.4(CHRNA2):c.733T>A (p.Tyr245Asn)	CHRNA2 (Y245N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 204965	NM_000742.4(CHRNA2):c.731A>G (p.Lys244Arg)	CHRNA2 (K244R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 654378	NM_000742.4(CHRNA2):c.724A>G (p.Ser242Gly)	CHRNA2 (S227G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3267160	NM_000742.4(CHRNA2):c.716C>G (p.Thr239Ser)	CHRNA2 (T224S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270557	NM_000742.4(CHRNA2):c.703A>C (p.Asn235His)	CHRNA2 (N37H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 377665	NM_000742.4(CHRNA2):c.684C>T (p.Ser228=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GBenign/Likely benign
Select item 3267159	NM_000742.4(CHRNA2):c.654G>C (p.Gln218His)	CHRNA2 (Q20H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267158	NM_000742.4(CHRNA2):c.645G>C (p.Gln215His)	CHRNA2 (Q17H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1630169	NM_000742.4(CHRNA2):c.643C>A (p.Gln215Lys)	CHRNA2 (Q17K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 388535	NM_000742.4(CHRNA2):c.609C>T (p.Ser203=)	CHRNA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1746338	NM_000742.4(CHRNA2):c.524C>T (p.Pro175Leu)	CHRNA2 (P16L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 588445	NM_000742.4(CHRNA2):c.516C>A (p.His172Gln)	CHRNA2 (H172Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3144615	NM_000742.4(CHRNA2):c.511G>C (p.Val171Leu)	CHRNA2 (V12L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 204959	NM_000742.4(CHRNA2):c.503C>T (p.Thr168Met)	CHRNA2 (T168M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 136750	NM_000742.4(CHRNA2):c.489C>T (p.Ala163=)	CHRNA2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GBenign/Likely benign
Select item 1044613	NM_000742.4(CHRNA2):c.458G>A (p.Gly153Glu)	CHRNA2 (G138E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 204983	NM_000742.4(CHRNA2):c.444CAA[1] (p.Asn150del)	CHRNA2 (N150del +1 more)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 422137	NM_000742.4(CHRNA2):c.433A>G (p.Ile145Val)	CHRNA2 (I145V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 589813	NM_000742.4(CHRNA2):c.403del (p.Val135fs)	CHRNA2 (V120fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 204988	NM_000742.4(CHRNA2):c.401G>A (p.Arg134Lys)	CHRNA2 (R134K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 197689	NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp)	CHRNA2 (G128D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 589193	NM_000742.4(CHRNA2):c.381T>C (p.Phe127=)	CHRNA2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 128739	NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala)	CHRNA2 (T125A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 1100695	NM_000742.4(CHRNA2):c.368A>G (p.Asn123Ser)	CHRNA2 (N108S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 3008880	NM_000742.4(CHRNA2):c.361C>T (p.Arg121Cys)	CHRNA2 (R121C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 128738	NM_000742.4(CHRNA2):c.351C>T (p.Asp117=)	CHRNA2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 1501390	NM_000742.4(CHRNA2):c.301A>C (p.Lys101Gln)	CHRNA2 (K101Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 702429	NM_000742.4(CHRNA2):c.288C>T (p.Ile96=)	CHRNA2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 388375	NM_000742.4(CHRNA2):c.246C>T (p.Asp82=)	CHRNA2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1018834	NM_000742.4(CHRNA2):c.227C>G (p.Pro76Arg)	CHRNA2 (P76R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 196287	NM_000742.4(CHRNA2):c.227C>T (p.Pro76Leu)	CHRNA2 (P76L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 700387	NM_000742.4(CHRNA2):c.225C>T (p.Arg75=)	CHRNA2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GLikely benign
Select item 381018	NM_000742.4(CHRNA2):c.225C>A (p.Arg75=)	CHRNA2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 204994	NM_000742.4(CHRNA2):c.224G>A (p.Arg75His)	CHRNA2 (R75H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance

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