CHRNB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
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	NM_000748.2(CHRNB2):c.-296G>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 670849	NM_000748.3(CHRNB2):c.-55C>T	CHRNB2, LOC129931511	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1291264	NM_000748.3(CHRNB2):c.-53C>T	CHRNB2, LOC129931511	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 673238	NM_000748.3(CHRNB2):c.-51C>A	CHRNB2, LOC129931511	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 136771	NM_000748.3(CHRNB2):c.-49G>C	CHRNB2, LOC129931511	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1182200	NM_000748.3(CHRNB2):c.-39C>G	CHRNB2, LOC129931511	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 383432	NM_000748.3(CHRNB2):c.-37A>C	CHRNB2, LOC129931511	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1878774	NM_000748.3(CHRNB2):c.-3G>A	CHRNB2, LOC129931511	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2851780	NM_000748.3(CHRNB2):c.1A>G (p.Met1Val)	CHRNB2, LOC129931511 (M1V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1409085	NM_000748.3(CHRNB2):c.1A>T (p.Met1Leu)	CHRNB2, LOC129931511 (M1L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1475973	NM_000748.3(CHRNB2):c.2T>A (p.Met1Lys)	CHRNB2, LOC129931511 (M1K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1439535	NM_000748.3(CHRNB2):c.4G>T (p.Ala2Ser)	CHRNB2, LOC129931511 (A2S)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2713433	NM_000748.3(CHRNB2):c.16_31dup (p.Leu11fs)	CHRNB2, LOC129931511 (L11fs)	Duplication (frameshift variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 205075	NM_000748.3(CHRNB2):c.7C>T (p.Arg3Trp)	CHRNB2, LOC129931511 (R3W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893460	NM_000748.3(CHRNB2):c.10C>A (p.Arg4Ser)	CHRNB2, LOC129931511 (R4S)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2111922	NM_000748.3(CHRNB2):c.12C>G (p.Arg4=)	CHRNB2, LOC129931511	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1718359	NM_000748.3(CHRNB2):c.13T>C (p.Cys5Arg)	CHRNB2, LOC129931511 (C5R)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1016776	NM_000748.3(CHRNB2):c.13T>G (p.Cys5Gly)	CHRNB2, LOC129931511 (C5G)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1393338	NM_000748.3(CHRNB2):c.14G>C (p.Cys5Ser)	CHRNB2, LOC129931511 (C5S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 640524	NM_000748.3(CHRNB2):c.17G>A (p.Gly6Asp)	CHRNB2, LOC129931511 (G6D)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1392121	NM_000748.3(CHRNB2):c.21del (p.Val8fs)	CHRNB2, LOC129931511 (V8fs)	Deletion (frameshift variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 744422	NM_000748.3(CHRNB2):c.18C>G (p.Gly6=)	CHRNB2, LOC129931511	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1146019	NM_000748.3(CHRNB2):c.21C>G (p.Pro7=)	CHRNB2, LOC129931511	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1412413	NM_000748.3(CHRNB2):c.22G>T (p.Val8Leu)	CHRNB2, LOC129931511 (V8L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1019698	NM_000748.3(CHRNB2):c.22G>C (p.Val8Leu)	CHRNB2, LOC129931511 (V8L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2698635	NM_000748.3(CHRNB2):c.27G>T (p.Ala9=)	CHRNB2, LOC129931511	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 751519	NM_000748.3(CHRNB2):c.30G>A (p.Leu10=)	CHRNB2, LOC129931511	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1547723	NM_000748.3(CHRNB2):c.33C>T (p.Leu11=)	CHRNB2, LOC129931511	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 759997	NM_000748.3(CHRNB2):c.33C>G (p.Leu11=)	LOC129931511, CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
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)	not provided +1 more	GLikely benign
Select item 205061	NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met)	CHRNB2 (T26M)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +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)	not provided +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)	not provided +1 more	GBenign/Likely benign
Select item 1311720	NM_000748.3(CHRNB2):c.121C>T (p.Arg41Cys)	CHRNB2 (R41C)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +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)	not provided +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)	Autosomal dominant nocturnal frontal lobe epilepsy +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)	Inborn genetic diseases +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)	not specified +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)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GBenign
Select item 700543	NM_000748.3(CHRNB2):c.210+10G>A	CHRNB2	Single nucleotide variant (intron variant)	CHRNB2-related disorder +1 more	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

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