CHRNA2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369608	NM_000742.3(CHRNA2):c.*1882C>A	CHRNA2	Single nucleotide variant	Sleep-related hypermotor epilepsy	GLikely benign
Select item 369609	NM_000742.4(CHRNA2):c.*1873A>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 362662	NM_000742.4(CHRNA2):c.*1849A>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4 +1 more	GBenign
Select item 362663	NM_000742.4(CHRNA2):c.*1845A>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362664	NM_000742.4(CHRNA2):c.*1809T>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 909740	NM_000742.4(CHRNA2):c.*1775C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 909741	NM_000742.4(CHRNA2):c.*1769C>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910653	NM_000742.4(CHRNA2):c.*1752G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910655	NM_000742.4(CHRNA2):c.*1707C>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910654	NM_000742.4(CHRNA2):c.*1707C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362665	NM_000742.4(CHRNA2):c.*1701C>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 910656	NM_000742.4(CHRNA2):c.*1688G>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910657	NM_000742.4(CHRNA2):c.*1667G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 910658	NM_000742.4(CHRNA2):c.*1603C>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362666	NM_000742.4(CHRNA2):c.*1480C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362667	NM_000742.4(CHRNA2):c.*1446A>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362668	NM_000742.4(CHRNA2):c.*1403C>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362669	NM_000742.4(CHRNA2):c.*1395C>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362670	NM_000742.4(CHRNA2):c.*1392A>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362671	NM_000742.4(CHRNA2):c.*1384C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362672	NM_000742.4(CHRNA2):c.*1286del	CHRNA2	Deletion (3 prime UTR variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 911890	NM_000742.4(CHRNA2):c.*1265T>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362673	NM_000742.4(CHRNA2):c.*1159T>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 911891	NM_000742.4(CHRNA2):c.*1117G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362674	NM_000742.4(CHRNA2):c.*1096C>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 908947	NM_000742.4(CHRNA2):c.*1090C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362675	NM_000742.4(CHRNA2):c.1024_1026del	CHRNA2	Deletion (3 prime UTR variant)	Sleep-related hypermotor epilepsy	GBenign
Select item 362676	NM_000742.4(CHRNA2):c.*1006G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362677	NM_000742.4(CHRNA2):c.*1003G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362678	NM_000742.4(CHRNA2):c.*997C>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362679	NM_000742.4(CHRNA2):c.*936C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362680	NM_000742.4(CHRNA2):c.*892T>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362681	NM_000742.4(CHRNA2):c.*771C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362682	NM_000742.4(CHRNA2):c.*755G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362683	NM_000742.4(CHRNA2):c.*721G>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 909808	NM_000742.4(CHRNA2):c.*662T>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362684	NM_000742.4(CHRNA2):c.*623G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362685	NM_000742.4(CHRNA2):c.*602T>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362686	NM_000742.4(CHRNA2):c.*511G>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 362687	NM_000742.4(CHRNA2):c.*479G>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362688	NM_000742.4(CHRNA2):c.*386G>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 362689	NM_000742.4(CHRNA2):c.*384G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 910710	NM_000742.4(CHRNA2):c.*348C>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
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 910711	NM_000742.4(CHRNA2):c.*196G>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910712	NM_000742.4(CHRNA2):c.*159G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 910713	NM_000742.4(CHRNA2):c.*133G>T	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
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 362692	NM_000742.4(CHRNA2):c.*29G>A	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GBenign
Select item 379054	NM_000742.4(CHRNA2):c.*8T>C	CHRNA2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1394348	NM_000742.4(CHRNA2):c.1583T>C (p.Met528Thr)	CHRNA2 (M330T +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 506884	NM_000742.4(CHRNA2):c.1575A>G (p.Leu525=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GLikely benign
Select item 416480	NM_000742.4(CHRNA2):c.1569G>A (p.Pro523=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2769790	NM_000742.4(CHRNA2):c.1568C>G (p.Pro523Arg)	CHRNA2 (P523R +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 840663	NM_000742.4(CHRNA2):c.1568C>A (p.Pro523Gln)	CHRNA2 (P508Q +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	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 1057502	NM_000742.4(CHRNA2):c.1563_1564delinsCT (p.Pro522Ser)	CHRNA2 (P324S +3 more)	Indel (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1126452	NM_000742.4(CHRNA2):c.1557C>A (p.Leu519=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1464404	NM_000742.4(CHRNA2):c.1555C>T (p.Leu519Phe)	CHRNA2 (L321F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 422114	NM_000742.4(CHRNA2):c.1552G>A (p.Gly518Ser)	CHRNA2 (G518S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 795613	NM_000742.4(CHRNA2):c.1551C>T (p.Ile517=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1026857	NM_000742.4(CHRNA2):c.1544G>A (p.Gly515Glu)	CHRNA2 (G317E +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1006542	NM_000742.4(CHRNA2):c.1541T>C (p.Leu514Pro)	CHRNA2 (L316P +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 937148	NM_000742.4(CHRNA2):c.1541T>A (p.Leu514Gln)	CHRNA2 (L355Q +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2075710	NM_000742.4(CHRNA2):c.1539C>T (p.Phe513=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2012179	NM_000742.4(CHRNA2):c.1535G>T (p.Cys512Phe)	CHRNA2 (C353F +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1977543	NM_000742.4(CHRNA2):c.1534T>C (p.Cys512Arg)	CHRNA2 (C314R +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1993686	NM_000742.4(CHRNA2):c.1533C>G (p.Val511=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
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 specified +4 more	GConflicting classifications of pathogenicity
Select item 3039437	NM_000742.4(CHRNA2):c.1529T>C (p.Ile510Thr)	CHRNA2 (I312T +3 more)	Single nucleotide variant (missense variant)	CHRNA2-related condition	GUncertain significance
Select item 580600	NM_000742.4(CHRNA2):c.1528A>G (p.Ile510Val)	CHRNA2 (I510V +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
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 4 +2 more	GUncertain significance
Select item 1148070	NM_000742.4(CHRNA2):c.1515C>T (p.Leu505=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 951067	NM_000742.4(CHRNA2):c.1501G>A (p.Asp501Asn)	CHRNA2 (D342N +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	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)	CHRNA2-related condition +5 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 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 2845885	NM_000742.4(CHRNA2):c.1482G>A (p.Lys494=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 658396	NM_000742.4(CHRNA2):c.1481A>G (p.Lys494Arg)	CHRNA2 (K494R +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1030885	NM_000742.4(CHRNA2):c.1478G>A (p.Trp493Ter)	CHRNA2 (W334* +3 more)	Single nucleotide variant (nonsense)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 1144863	NM_000742.4(CHRNA2):c.1473G>A (p.Glu491=)	CHRNA2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2784358	NM_000742.4(CHRNA2):c.1468_1470del (p.Lys490del)	CHRNA2 (K331del +3 more)	Deletion (inframe_deletion)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1006054	NM_000742.4(CHRNA2):c.1468A>G (p.Lys490Glu)	CHRNA2 (K292E +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 1710000	NM_000742.4(CHRNA2):c.1465G>T (p.Val489Leu)	CHRNA2 (V291L +3 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 4	GUncertain significance
Select item 1498617	NM_000742.4(CHRNA2):c.1465-1G>A	CHRNA2	Single nucleotide variant (splice acceptor variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 568258	NM_000742.4(CHRNA2):c.1465-2A>G	CHRNA2	Single nucleotide variant (splice acceptor variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 857708	NM_000742.4(CHRNA2):c.1465-3C>T	CHRNA2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2918244	NM_000742.4(CHRNA2):c.1465-6C>A	CHRNA2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2115569	NM_000742.4(CHRNA2):c.1465-21_1465-20inv	CHRNA2	Inversion (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 670848	NM_000742.4(CHRNA2):c.1465-21T>C	CHRNA2	Single nucleotide variant (intron variant)	not provided	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)	not specified +1 more	GLikely benign

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