CHRNB2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1270414	NC_000001.11:g.154567539C>G	CHRNB2	Single nucleotide variant	not provided	GBenign
Select item 1276204	NC_000001.11:g.154567591C>A	CHRNB2	Single nucleotide variant	not provided	GBenign
Select item 673243	NC_000001.11:g.154567749G>A	CHRNB2	Single nucleotide variant	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GBenign/Likely benign
Select item 670760	NM_000748.3(CHRNB2):c.-214A>G	CHRNB2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 741538	NM_000748.3(CHRNB2):c.42C>T (p.Phe14=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2863154	NM_000748.3(CHRNB2):c.50T>A (p.Leu17His)	CHRNB2 (L17H)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2964766	NM_000748.3(CHRNB2):c.54G>A (p.Arg18=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1571653	NM_000748.3(CHRNB2):c.54G>T (p.Arg18=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1643422	NM_000748.3(CHRNB2):c.57G>A (p.Leu19=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2755444	NM_000748.3(CHRNB2):c.58T>C (p.Cys20Arg)	CHRNB2 (C20R)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2967610	NM_000748.3(CHRNB2):c.60C>T (p.Cys20=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2316035	NM_000748.3(CHRNB2):c.61T>C (p.Ser21Pro)	CHRNB2 (S21P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2033339	NM_000748.3(CHRNB2):c.63A>G (p.Ser21=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3001751	NM_000748.3(CHRNB2):c.64+3A>G	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 444179	NM_000748.3(CHRNB2):c.64+6G>C	CHRNB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2824978	NM_000748.3(CHRNB2):c.64+9A>G	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2057567	NM_000748.3(CHRNB2):c.64+13C>T	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1618833	NM_000748.3(CHRNB2):c.64+14G>T	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2877118	NM_000748.3(CHRNB2):c.64+17C>T	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 679145	NM_000748.3(CHRNB2):c.64+133A>G	CHRNB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677678	NM_000748.3(CHRNB2):c.64+185G>A	CHRNB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220496	NM_000748.3(CHRNB2):c.64+244C>T	CHRNB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200505	NM_000748.3(CHRNB2):c.65-221G>A	CHRNB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211661	NM_000748.3(CHRNB2):c.65-99A>T	CHRNB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568881	NM_000748.3(CHRNB2):c.65-9C>T	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2013777	NM_000748.3(CHRNB2):c.65-2A>G	CHRNB2	Single nucleotide variant (splice acceptor variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 941995	NM_000748.3(CHRNB2):c.65-2del	CHRNB2	Deletion (splice acceptor variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2688781	NM_000748.3(CHRNB2):c.65G>A (p.Gly22Glu)	CHRNB2 (G22E)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 3	GUncertain significance
Select item 1096638	NM_000748.3(CHRNB2):c.69G>A (p.Val23=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 669051	NM_000748.3(CHRNB2):c.75T>C (p.Gly25=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GLikely benign
Select item 205061	NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met)	CHRNB2 (T26M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2035097	NM_000748.3(CHRNB2):c.78G>T (p.Thr26=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 410307	NM_000748.3(CHRNB2):c.78G>A (p.Thr26=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GBenign/Likely benign
Select item 1514740	NM_000748.3(CHRNB2):c.82A>G (p.Thr28Ala)	CHRNB2 (T28A)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 971392	NM_000748.3(CHRNB2):c.88G>A (p.Glu30Lys)	CHRNB2 (E30K)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1966566	NM_000748.3(CHRNB2):c.91C>T (p.Arg31Trp)	CHRNB2 (R31W)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1130404	NM_000748.3(CHRNB2):c.91C>A (p.Arg31=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1064339	NM_000748.3(CHRNB2):c.92G>A (p.Arg31Gln)	CHRNB2 (R31Q)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 806220	NM_000748.3(CHRNB2):c.96G>A (p.Leu32=)	CHRNB2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2580071	NM_000748.3(CHRNB2):c.97G>C (p.Val33Leu)	CHRNB2 (V33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422302	NM_000748.3(CHRNB2):c.97G>A (p.Val33Met)	CHRNB2 (V33M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429855	NM_000748.3(CHRNB2):c.105T>A (p.His35Gln)	CHRNB2 (H35Q)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GLikely benign
Select item 566514	NM_000748.3(CHRNB2):c.106C>T (p.Leu36Phe)	CHRNB2 (L36F)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1109145	NM_000748.3(CHRNB2):c.108C>T (p.Leu36=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 377680	NM_000748.3(CHRNB2):c.109C>T (p.Leu37=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GBenign/Likely benign
Select item 1311720	NM_000748.3(CHRNB2):c.121C>T (p.Arg41Cys)	CHRNB2 (R41C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 420432	NM_000748.3(CHRNB2):c.122G>A (p.Arg41His)	CHRNB2 (R41H)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 1204132	NM_000748.3(CHRNB2):c.123C>A (p.Arg41=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GLikely benign
Select item 760078	NM_000748.3(CHRNB2):c.123C>T (p.Arg41=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2795672	NM_000748.3(CHRNB2):c.129C>T (p.Asn43=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 756628	NM_000748.3(CHRNB2):c.138C>T (p.Ile46=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 520582	NM_000748.3(CHRNB2):c.139C>T (p.Arg47Cys)	CHRNB2 (R47C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2820612	NM_000748.3(CHRNB2):c.146C>T (p.Ala49Val)	CHRNB2 (A49V)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 942969	NM_000748.3(CHRNB2):c.149C>G (p.Thr50Ser)	CHRNB2 (T50S)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 590195	NM_000748.3(CHRNB2):c.149C>T (p.Thr50Ile)	CHRNB2 (T50I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 256778	NM_000748.3(CHRNB2):c.150C>T (p.Thr50=)	CHRNB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2852893	NM_000748.3(CHRNB2):c.152A>G (p.Asn51Ser)	CHRNB2 (N51S)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 543530	NM_000748.3(CHRNB2):c.154G>A (p.Gly52Ser)	CHRNB2 (G52S)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2089391	NM_000748.3(CHRNB2):c.166G>C (p.Val56Leu)	CHRNB2 (V56L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 447040	NM_000748.3(CHRNB2):c.170C>T (p.Thr57Ile)	CHRNB2 (T57I)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 2639371	NM_000748.3(CHRNB2):c.174A>G (p.Val58=)	CHRNB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 947705	NM_000748.3(CHRNB2):c.175C>T (p.Gln59Ter)	CHRNB2 (Q59*)	Single nucleotide variant (nonsense)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2738094	NM_000748.3(CHRNB2):c.177G>A (p.Gln59=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2009506	NM_000748.3(CHRNB2):c.184G>A (p.Val62Met)	CHRNB2 (V62M)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 477013	NM_000748.3(CHRNB2):c.201C>T (p.Leu67=)	CHRNB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 762190	NM_000748.3(CHRNB2):c.210+3G>A	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 158333	NM_000748.3(CHRNB2):c.210+9A>G	CHRNB2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 700543	NM_000748.3(CHRNB2):c.210+10G>A	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1652670	NM_000748.3(CHRNB2):c.210+15C>T	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1938911	NM_000748.3(CHRNB2):c.210+18del	CHRNB2	Deletion (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1660646	NM_000748.3(CHRNB2):c.211-20G>C	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2703918	NM_000748.3(CHRNB2):c.211-15T>C	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1273986	NM_000748.3(CHRNB2):c.211-13T>C	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GBenign
Select item 2834583	NM_000748.3(CHRNB2):c.211-8C>T	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2101798	NM_000748.3(CHRNB2):c.211-7C>A	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2128715	NM_000748.3(CHRNB2):c.211-6C>T	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2097736	NM_000748.3(CHRNB2):c.211-3C>A	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 205063	NM_000748.3(CHRNB2):c.212A>G (p.His71Arg)	CHRNB2 (H71R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 833563	NM_000748.3(CHRNB2):c.213T>G (p.His71Gln)	CHRNB2 (H71Q)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 949919	NM_000748.3(CHRNB2):c.217C>T (p.Arg73Trp)	CHRNB2 (R73W)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2500367	NM_000748.3(CHRNB2):c.218G>A (p.Arg73Gln)	CHRNB2 (R73Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590017	NM_000748.3(CHRNB2):c.222G>C (p.Glu74Asp)	CHRNB2 (E74D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1423335	NM_000748.3(CHRNB2):c.223C>G (p.Gln75Glu)	CHRNB2 (Q75E)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1711225	NM_000748.3(CHRNB2):c.224A>C (p.Gln75Pro)	CHRNB2 (Q75P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 763055	NM_000748.3(CHRNB2):c.240T>C (p.Asn80=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2776945	NM_000748.3(CHRNB2):c.247C>T (p.Leu83=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1675375	NM_000748.3(CHRNB2):c.255G>A (p.Gln85=)	CHRNB2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 565517	NM_000748.3(CHRNB2):c.255+6C>T	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 284423	NM_000748.3(CHRNB2):c.255+7G>A	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 136769	NM_000748.3(CHRNB2):c.255+7G>C	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GBenign
Select item 1956707	NM_000748.3(CHRNB2):c.255+13G>A	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 392436	NM_000748.3(CHRNB2):c.255+15T>G	CHRNB2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2029501	NM_000748.3(CHRNB2):c.255+16C>T	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 670850	NM_000748.3(CHRNB2):c.256-41C>T	CHRNB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2724842	NM_000748.3(CHRNB2):c.256-17C>A	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 3021621	NM_000748.3(CHRNB2):c.256-15T>C	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1551624	NM_000748.3(CHRNB2):c.256-10C>T	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1539159	NM_000748.3(CHRNB2):c.256-10C>G	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 3061958	NM_000748.3(CHRNB2):c.256-1G>A	CHRNB2	Single nucleotide variant (splice acceptor variant)	Autosomal dominant nocturnal frontal lobe epilepsy 3	GLikely pathogenic

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