ClinVar for Gene (Select 1141) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062900	GRCh37/hg19 1q21.3(chr1:154089394-154912611)x3	ADAR, AQP10 +14 more	Copy number gain	not specified	GUncertain significance
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
Select item 3051103	NM_000748.3(CHRNB2):c.539G>T (p.Arg180Leu)	CHRNB2 (R180L)	Single nucleotide variant (missense variant)	CHRNB2-related condition	GUncertain significance
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 3020828	NM_000748.3(CHRNB2):c.918G>A (p.Val306=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 3008609	NM_000748.3(CHRNB2):c.1439_1441del (p.Gln480del)	CHRNB2 (Q480del)	Deletion (inframe_deletion)	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 2995977	NM_000748.3(CHRNB2):c.1210G>C (p.Gly404Arg)	CHRNB2 (G404R)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2990520	NM_000748.3(CHRNB2):c.885G>A (p.Pro295=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2976612	NM_000748.3(CHRNB2):c.365+13G>A	CHRNB2	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2968873	NM_000748.3(CHRNB2):c.1341G>T (p.Val447=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
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 2966796	NM_000748.3(CHRNB2):c.1215T>C (p.Ala405=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
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 2961457	NM_000748.3(CHRNB2):c.1343G>C (p.Ser448Thr)	CHRNB2 (S448T)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2918102	NM_000748.3(CHRNB2):c.333C>T (p.His111=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2917952	NM_000748.3(CHRNB2):c.626C>T (p.Pro209Leu)	CHRNB2 (P209L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2913306	NM_000748.3(CHRNB2):c.1102C>G (p.Arg368Gly)	CHRNB2 (R368G)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2913124	NM_000748.3(CHRNB2):c.321C>T (p.Leu107=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2905840	NM_000748.3(CHRNB2):c.1474C>T (p.Leu492Phe)	CHRNB2 (L492F)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	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 2886913	NM_000748.3(CHRNB2):c.756C>T (p.Ala252=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2883096	NM_000748.3(CHRNB2):c.911C>T (p.Thr304Ile)	CHRNB2 (T304I)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2880003	NM_000748.3(CHRNB2):c.1438C>T (p.Gln480Ter)	CHRNB2 (Q480*)	Single nucleotide variant (nonsense)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2879321	NM_000748.3(CHRNB2):c.1458C>T (p.Tyr486=)	CHRNB2	Single nucleotide variant (synonymous 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 2874233	NM_000748.3(CHRNB2):c.984G>C (p.Thr328=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2873175	NM_000748.3(CHRNB2):c.1185G>C (p.Ser395=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2869626	NM_000748.3(CHRNB2):c.884C>T (p.Pro295Leu)	CHRNB2 (P295L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2867087	NM_000748.3(CHRNB2):c.1094G>T (p.Arg365Leu)	CHRNB2 (R365L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2864819	NM_000748.3(CHRNB2):c.1487A>C (p.His496Pro)	CHRNB2 (H496P)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2864632	NM_000748.3(CHRNB2):c.1426G>A (p.Gly476Ser)	CHRNB2 (G476S)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
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 2855881	NM_000748.3(CHRNB2):c.960C>A (p.Asn320Lys)	CHRNB2 (N320K)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
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 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 2851731	NM_000748.3(CHRNB2):c.1096C>T (p.Arg366Cys)	CHRNB2 (R366C)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2851709	NM_000748.3(CHRNB2):c.820del (p.Leu274fs)	CHRNB2 (L274fs)	Deletion (frameshift variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2849342	NM_000748.3(CHRNB2):c.1194G>T (p.Gly398=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2848336	NM_000748.3(CHRNB2):c.971_972delinsTA (p.Arg324Leu)	CHRNB2 (R324L)	Indel (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2843034	NM_000748.3(CHRNB2):c.1244G>C (p.Arg415Pro)	CHRNB2 (R415P)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
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 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 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 2810037	NM_000748.3(CHRNB2):c.1481C>T (p.Ser494Leu)	CHRNB2 (S494L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2806947	NM_000748.3(CHRNB2):c.726C>T (p.Ile242=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2801659	NM_000748.3(CHRNB2):c.1126C>G (p.Leu376Val)	CHRNB2 (L376V)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2796833	NM_000748.3(CHRNB2):c.1073G>C (p.Arg358Pro)	CHRNB2 (R358P)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
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 2793692	NM_000748.3(CHRNB2):c.660G>A (p.Thr220=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2782549	NM_000748.3(CHRNB2):c.1049A>G (p.Gln350Arg)	CHRNB2 (Q350R)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
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 2772229	NM_000748.3(CHRNB2):c.313G>A (p.Val105Ile)	CHRNB2 (V105I)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2768942	NM_000748.3(CHRNB2):c.1503C>G (p.Ser501=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2768938	NM_000748.3(CHRNB2):c.880G>A (p.Val294Met)	CHRNB2 (V294M)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2764724	NM_000748.3(CHRNB2):c.1395C>T (p.Ile465=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2761394	NM_000748.3(CHRNB2):c.520dup (p.Arg174fs)	CHRNB2 (R174fs)	Duplication (frameshift variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2759514	NM_000748.3(CHRNB2):c.1215T>A (p.Ala405=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2758489	NM_000748.3(CHRNB2):c.961G>C (p.Val321Leu)	CHRNB2 (V321L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2757446	NM_000748.3(CHRNB2):c.970C>T (p.Arg324Cys)	CHRNB2 (R324C)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
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 2752677	NM_000748.3(CHRNB2):c.1364C>T (p.Ala455Val)	CHRNB2 (A455V)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2752207	NM_000748.3(CHRNB2):c.1098C>A (p.Arg366=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2746867	NM_000748.3(CHRNB2):c.663C>T (p.Tyr221=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2745412	NM_000748.3(CHRNB2):c.1499G>A (p.Ser500Asn)	CHRNB2 (S500N)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2740896	NM_000748.3(CHRNB2):c.1288G>C (p.Gly430Arg)	CHRNB2 (G430R)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2739765	NM_000748.3(CHRNB2):c.1299C>T (p.Phe433=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
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 2729894	NM_000748.3(CHRNB2):c.645C>T (p.Asn215=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
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 2717593	NM_000748.3(CHRNB2):c.877G>A (p.Asp293Asn)	CHRNB2 (D293N)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2715602	NM_000748.3(CHRNB2):c.977C>T (p.Pro326Leu)	CHRNB2 (P326L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2714282	NM_000748.3(CHRNB2):c.955C>G (p.Leu319Val)	CHRNB2 (L319V)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2714080	NM_000748.3(CHRNB2):c.1146A>T (p.Pro382=)	CHRNB2	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
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 2713423	NM_000748.3(CHRNB2):c.863C>T (p.Pro288Leu)	CHRNB2 (P288L)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
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 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 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 2682657	NM_000748.3(CHRNB2):c.1490C>G (p.Ser497Ter)	CHRNB2 (S497*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2661979	NM_000748.3(CHRNB2):c.1319G>C (p.Ser440Thr)	CHRNB2 (S440T)	Single nucleotide variant (missense variant)	not provided	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 2633000	NM_000748.3(CHRNB2):c.1404dup (p.Val469fs)	CHRNB2 (V469fs)	Duplication (frameshift variant)	CHRNB2-related condition	GUncertain significance
Select item 2616662	NM_000748.3(CHRNB2):c.304A>T (p.Met102Leu)	CHRNB2 (M102L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580580	NM_000748.3(CHRNB2):c.1459ACC[3] (p.Thr490del)	CHRNB2 (T490del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
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 2571870	NM_000748.3(CHRNB2):c.1170C>G (p.Phe390Leu)	CHRNB2 (F390L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502564	NM_000748.3(CHRNB2):c.536A>G (p.Asp179Gly)	CHRNB2 (D179G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502480	NM_000748.3(CHRNB2):c.1302C>G (p.Ile434Met)	CHRNB2 (I434M)	Single nucleotide variant (missense variant)	not provided	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 2444674	NM_000748.3(CHRNB2):c.1234G>C (p.Gly412Arg)	CHRNB2 (G412R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444605	NM_000748.3(CHRNB2):c.368C>T (p.Ala123Val)	CHRNB2 (A123V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442759	NM_000748.3(CHRNB2):c.1363G>A (p.Ala455Thr)	CHRNB2 (A455T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442463	NM_000748.3(CHRNB2):c.658A>G (p.Thr220Ala)	CHRNB2 (T220A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440037	NM_000748.3(CHRNB2):c.1333C>G (p.Gln445Glu)	CHRNB2 (Q445E)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 2425513	NC_000001.10:g.(?_153963273)_(154580482_?)del	ADAR, AQP10 +13 more	Deletion	Kostmann syndrome	GPathogenic

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