"GeneDx"[submitter] AND "CHRNA2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 60359	GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 362690	NM_000742.4(CHRNA2):c.*285G>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 362691	NM_000742.4(CHRNA2):c.*108C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 379054	NM_000742.4(CHRNA2):c.*8T>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 506884	NM_000742.4(CHRNA2):c.1575A>G (p.Leu525=)	CHRNA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 3368761	NM_000742.4(CHRNA2):c.1564C>T (p.Pro522Ser)	CHRNA2 (P324S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422114	NM_000742.4(CHRNA2):c.1552G>A (p.Gly518Ser)	CHRNA2 (G518S +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 572660	NM_000742.4(CHRNA2):c.1531G>A (p.Val511Ile)	CHRNA2 (V511I +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 204976	NM_000742.4(CHRNA2):c.1531G>C (p.Val511Leu)	CHRNA2 (V511L +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 3253421	NM_000742.4(CHRNA2):c.1523T>C (p.Phe508Ser)	CHRNA2 (F310S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204986	NM_000742.4(CHRNA2):c.1498_1500del (p.Ile500del)	CHRNA2 (I500del +3 more)	Deletion (inframe_deletion)	Autosomal dominant nocturnal frontal lobe epilepsy +1 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 2504570	NM_000742.4(CHRNA2):c.1479_1482dup (p.Tyr495fs)	CHRNA2 (Y297fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2501638	NM_000742.4(CHRNA2):c.1483T>C (p.Tyr495His)	CHRNA2 (Y297H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364112	NM_000742.4(CHRNA2):c.1471G>A (p.Glu491Lys)	CHRNA2 (E293K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 670848	NM_000742.4(CHRNA2):c.1465-21T>C	CHRNA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1197626	NM_000742.4(CHRNA2):c.1465-45T>A	CHRNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193835	NM_000742.4(CHRNA2):c.1465-290C>T	CHRNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198991	NM_000742.4(CHRNA2):c.1465-299G>A	CHRNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199583	NM_000742.4(CHRNA2):c.1464+260G>A	CHRNA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206835	NM_000742.4(CHRNA2):c.1464+153_1464+160del	CHRNA2	Deletion (intron variant)	not provided	GLikely benign
Select item 380663	NM_000742.4(CHRNA2):c.1464+20G>A	CHRNA2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GLikely benign
Select item 513055	NM_000742.4(CHRNA2):c.1464+10G>C	CHRNA2	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 1314225	NM_000742.4(CHRNA2):c.1444T>C (p.Ser482Pro)	CHRNA2 (S284P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698092	NM_000742.4(CHRNA2):c.1437C>G (p.His479Gln)	CHRNA2 (H281Q +3 more)	Single nucleotide variant (missense variant)	not provided	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 204974	NM_000742.4(CHRNA2):c.1426A>C (p.Ile476Leu)	CHRNA2 (I476L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 545945	NM_000742.4(CHRNA2):c.1393del (p.His465fs)	CHRNA2 (H465fs +3 more)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1314537	NM_000742.4(CHRNA2):c.1385T>C (p.Leu462Pro)	CHRNA2 (L264P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 204991	NM_000742.4(CHRNA2):c.1373G>C (p.Gly458Ala)	CHRNA2 (G458A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 507656	NM_000742.4(CHRNA2):c.1368G>A (p.Gln456=)	CHRNA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 204949	NM_000742.4(CHRNA2):c.1335G>C (p.Gly445=)	CHRNA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 383690	NM_000742.4(CHRNA2):c.1331C>G (p.Ser444Cys)	CHRNA2 (S444C +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
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 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 421926	NM_000742.4(CHRNA2):c.1262A>G (p.Asp421Gly)	CHRNA2 (D421G +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 385627	NM_000742.4(CHRNA2):c.1260G>A (p.Glu420=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy +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 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 204948	NM_000742.4(CHRNA2):c.1222G>C (p.Val408Leu)	CHRNA2 (V408L +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1699577	NM_000742.4(CHRNA2):c.1218C>G (p.Ser406Arg)	CHRNA2 (S208R +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 1216492	NM_000742.4(CHRNA2):c.1198T>A (p.Ser400Thr)	CHRNA2 (S202T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 422890	NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His)	CHRNA2 (R394H +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GUncertain significance
Select item 204947	NM_000742.4(CHRNA2):c.1181G>C (p.Arg394Pro)	CHRNA2 (R394P +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 512597	NM_000742.4(CHRNA2):c.1176C>T (p.Pro392=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GLikely benign
Select item 384959	NM_000742.4(CHRNA2):c.1174C>T (p.Pro392Ser)	CHRNA2 (P392S +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GLikely benign
Select item 204972	NM_000742.4(CHRNA2):c.1165C>T (p.Leu389Phe)	CHRNA2 (L389F +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 381378	NM_000742.4(CHRNA2):c.1158C>T (p.Pro386=)	CHRNA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 204971	NM_000742.4(CHRNA2):c.1148C>T (p.Pro383Leu)	CHRNA2 (P383L +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	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 962442	NM_000742.4(CHRNA2):c.1124C>T (p.Pro375Leu)	CHRNA2 (P360L +3 more)	Single nucleotide variant (missense variant)	not provided +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 421771	NM_000742.4(CHRNA2):c.1118G>C (p.Cys373Ser)	CHRNA2 (C373S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384032	NM_000742.4(CHRNA2):c.1113G>T (p.Leu371=)	CHRNA2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 390463	NM_000742.4(CHRNA2):c.1100G>A (p.Arg367Gln)	CHRNA2 (R367Q +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
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 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 421596	NM_000742.4(CHRNA2):c.1076C>T (p.Thr359Ile)	CHRNA2 (T359I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 204968	NM_000742.4(CHRNA2):c.1073G>T (p.Ser358Ile)	CHRNA2 (S358I +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GConflicting classifications of pathogenicity
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 546512	NM_000742.4(CHRNA2):c.1055T>C (p.Val352Ala)	CHRNA2 (V352A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 391697	NM_000742.4(CHRNA2):c.1039G>A (p.Val347Ile)	CHRNA2 (V347I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 476985	NM_000742.4(CHRNA2):c.1030G>A (p.Val344Ile)	CHRNA2 (V344I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 204966	NM_000742.4(CHRNA2):c.1021C>G (p.Leu341Val)	CHRNA2 (L341V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1328832	NM_000742.4(CHRNA2):c.993C>G (p.Tyr331Ter)	CHRNA2 (Y133* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 204990	NM_000742.4(CHRNA2):c.987C>T (p.Gly329=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 1710757	NM_000742.4(CHRNA2):c.971T>A (p.Val324Asp)	CHRNA2 (V126D +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2442410	NM_000742.4(CHRNA2):c.970G>A (p.Val324Ile)	CHRNA2 (V126I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 627592	NM_000742.4(CHRNA2):c.959C>A (p.Ser320Tyr)	CHRNA2 (S320Y +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 136752	NM_000742.4(CHRNA2):c.945T>C (p.Thr315=)	CHRNA2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 282149	NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)	CHRNA2 (L313F +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 1315050	NM_000742.4(CHRNA2):c.905C>T (p.Ser302Leu)	CHRNA2 (S104L +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 204985	NM_000742.4(CHRNA2):c.884AGA[1] (p.Lys296del)	CHRNA2 (K296del +3 more)	Microsatellite (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 1026735	NM_000742.4(CHRNA2):c.874G>A (p.Asp292Asn)	CHRNA2 (D133N +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
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 1209215	NM_000742.4(CHRNA2):c.835A>G (p.Ile279Val)	CHRNA2 (I120V +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 2580689	NM_000742.4(CHRNA2):c.824C>T (p.Pro275Leu)	CHRNA2 (P116L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511555	NM_000742.4(CHRNA2):c.777C>T (p.Phe259=)	CHRNA2	Single nucleotide variant (synonymous variant)	not specified +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 3368323	NM_000742.4(CHRNA2):c.754T>A (p.Tyr252Asn)	CHRNA2 (Y237N +3 more)	Single nucleotide variant (missense variant)	not provided	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 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 204964	NM_000742.4(CHRNA2):c.725G>A (p.Ser242Asn)	CHRNA2 (S242N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204963	NM_000742.4(CHRNA2):c.710C>A (p.Thr237Lys)	CHRNA2 (T237K +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GBenign/Likely benign

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