KCNB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 150781	GRCh38/hg38 20q13.13(chr20:48756586-49532355)x3	ARFGEF2, CSE1L +44 more	Copy number gain	See cases	GUncertain significance
Select item 146041	GRCh38/hg38 20q13.13(chr20:49098782-49465707)x3	DDX27, KCNB1 +15 more	Copy number gain	See cases	GUncertain significance
Select item 1184395	NC_000020.11:g.49212886_49410642dup	DDX27, KCNB1 +12 more	Duplication	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 1334678	NM_004975.4(KCNB1):c.*5139C>T	KCNB1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1214697	NM_004975.4(KCNB1):c.*71A>C	KCNB1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 387663	NM_004975.4(KCNB1):c.*17G>A	KCNB1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2160995	NM_004975.4(KCNB1):c.2572A>G (p.Ile858Val)	KCNB1 (I858V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 380824	NM_004975.4(KCNB1):c.2570G>A (p.Ser857Asn)	KCNB1 (S857N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1423951	NM_004975.4(KCNB1):c.2561G>A (p.Arg854Gln)	KCNB1 (R854Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +2 more	GConflicting classifications of pathogenicity
Select item 1021756	NM_004975.4(KCNB1):c.2560C>T (p.Arg854Ter)	KCNB1 (R854*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 872730	NM_004975.4(KCNB1):c.2558C>T (p.Thr853Ile)	KCNB1 (T853I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1081278	NM_004975.4(KCNB1):c.2556C>T (p.Ser852=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2196208	NM_004975.4(KCNB1):c.2553A>G (p.Gly851=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2792606	NM_004975.4(KCNB1):c.2546C>A (p.Ala849Asp)	KCNB1 (A849D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2979151	NM_004975.4(KCNB1):c.2540G>A (p.Gly847Glu)	KCNB1 (G847E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2866807	NM_004975.4(KCNB1):c.2540G>C (p.Gly847Ala)	KCNB1 (G847A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2746985	NM_004975.4(KCNB1):c.2538G>A (p.Gly846=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 958081	NM_004975.4(KCNB1):c.2537G>T (p.Gly846Val)	KCNB1 (G846V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 1502238	NM_004975.4(KCNB1):c.2531T>C (p.Leu844Ser)	KCNB1 (L844S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 798385	NM_004975.4(KCNB1):c.2529G>A (p.Val843=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 1166389	NM_004975.4(KCNB1):c.2525G>A (p.Arg842His)	KCNB1 (R842H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 998443	NM_004975.4(KCNB1):c.2524C>T (p.Arg842Cys)	KCNB1 (R842C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1170471	NM_004975.4(KCNB1):c.2521G>A (p.Val841Ile)	KCNB1 (V841I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 514758	NM_004975.4(KCNB1):c.2520C>T (p.Asp840=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 475262	NM_004975.4(KCNB1):c.2516C>T (p.Pro839Leu)	KCNB1 (P839L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GLikely benign
Select item 1568197	NM_004975.4(KCNB1):c.2515C>T (p.Pro839Ser)	KCNB1 (P839S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 1045643	NM_004975.4(KCNB1):c.2515C>A (p.Pro839Thr)	KCNB1 (P839T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 1020008	NM_004975.4(KCNB1):c.2512T>C (p.Ser838Pro)	KCNB1 (S838P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 2841925	NM_004975.4(KCNB1):c.2491T>C (p.Cys831Arg)	KCNB1 (C831R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 1088578	NM_004975.4(KCNB1):c.2478T>C (p.Ser826=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 1384465	NM_004975.4(KCNB1):c.2474C>T (p.Pro825Leu)	KCNB1 (P825L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2049828	NM_004975.4(KCNB1):c.2473C>G (p.Pro825Ala)	KCNB1 (P825A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 1062047	NM_004975.4(KCNB1):c.2472_2473delinsTT (p.Pro825Ser)	KCNB1 (P825S)	Indel (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 382142	NM_004975.4(KCNB1):c.2473C>T (p.Pro825Ser)	KCNB1 (P825S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 385481	NM_004975.4(KCNB1):c.2472C>T (p.Gly824=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 833699	NM_004975.4(KCNB1):c.2471G>A (p.Gly824Asp)	KCNB1 (G824D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 2663697	NM_004975.4(KCNB1):c.2470G>C (p.Gly824Arg)	KCNB1 (G824R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1533061	NM_004975.4(KCNB1):c.2468A>G (p.Lys823Arg)	KCNB1 (K823R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 2842529	NM_004975.4(KCNB1):c.2461A>T (p.Thr821Ser)	KCNB1 (T821S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 1006183	NM_004975.4(KCNB1):c.2460G>T (p.Leu820Phe)	KCNB1 (L820F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GUncertain significance
Select item 1118877	NM_004975.4(KCNB1):c.2457A>G (p.Ala819=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 740544	NM_004975.4(KCNB1):c.2456C>T (p.Ala819Val)	KCNB1 (A819V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GLikely benign
Select item 2711140	NM_004975.4(KCNB1):c.2455G>T (p.Ala819Ser)	KCNB1 (A819S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 833994	NM_004975.4(KCNB1):c.2455G>A (p.Ala819Thr)	KCNB1 (A819T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 2540413	NM_004975.4(KCNB1):c.2450C>G (p.Thr817Arg)	KCNB1 (T817R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2693950	NM_004975.4(KCNB1):c.2447C>A (p.Ser816Tyr)	KCNB1 (S816Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 392430	NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met)	KCNB1 (I814M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GBenign
Select item 1540725	NM_004975.4(KCNB1):c.2425T>C (p.Leu809=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 833869	NM_004975.4(KCNB1):c.2417C>T (p.Pro806Leu)	KCNB1 (P806L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 940834	NM_004975.4(KCNB1):c.2416C>T (p.Pro806Ser)	KCNB1 (P806S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 1658526	NM_004975.4(KCNB1):c.2415C>T (p.Ser805=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 1089441	NM_004975.4(KCNB1):c.2412C>A (p.Thr804=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 373635	NM_004975.4(KCNB1):c.2411C>T (p.Thr804Ile)	KCNB1 (T804I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GUncertain significance
Select item 957516	NM_004975.4(KCNB1):c.2410A>G (p.Thr804Ala)	KCNB1 (T804A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2652390	NM_004975.4(KCNB1):c.2400C>T (p.Ser800=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1357868	NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn)	KCNB1 (S799N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 430043	NM_004975.4(KCNB1):c.2392G>C (p.Glu798Gln)	KCNB1 (E798Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 385133	NM_004975.4(KCNB1):c.2376G>A (p.Ser792=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1198556	NM_004975.4(KCNB1):c.2375C>T (p.Ser792Leu)	KCNB1 (S792L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1083884	NM_004975.4(KCNB1):c.2370A>G (p.Thr790=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2786732	NM_004975.4(KCNB1):c.2369C>T (p.Thr790Ile)	KCNB1 (T790I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2003949	NM_004975.4(KCNB1):c.2366G>A (p.Gly789Glu)	KCNB1 (G789E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 390369	NM_004975.4(KCNB1):c.2364G>A (p.Thr788=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26 +1 more	GLikely benign
Select item 833692	NM_004975.4(KCNB1):c.2363C>T (p.Thr788Met)	KCNB1 (T788M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 542062	NM_004975.4(KCNB1):c.2363C>A (p.Thr788Lys)	KCNB1 (T788K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GBenign
Select item 1106613	NM_004975.4(KCNB1):c.2352G>A (p.Pro784=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 576386	NM_004975.4(KCNB1):c.2351C>T (p.Pro784Leu)	KCNB1 (P784L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2630954	NM_004975.4(KCNB1):c.2349T>A (p.Ser783Arg)	KCNB1 (S783R)	Single nucleotide variant (missense variant)	KCNB1-related disorder	GUncertain significance
Select item 1022623	NM_004975.4(KCNB1):c.2345C>T (p.Thr782Ile)	KCNB1 (T782I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 1002068	NM_004975.4(KCNB1):c.2345C>G (p.Thr782Ser)	KCNB1 (T782S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 932380	NM_004975.4(KCNB1):c.2342G>A (p.Ser781Asn)	KCNB1 (S781N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1121608	NM_004975.4(KCNB1):c.2340G>A (p.Gly780=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 2308449	NM_004975.4(KCNB1):c.2336C>T (p.Pro779Leu)	KCNB1 (P779L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 384973	NM_004975.4(KCNB1):c.2334C>T (p.Leu778=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26 +1 more	GBenign
Select item 2086140	NM_004975.4(KCNB1):c.2330G>T (p.Ser777Ile)	KCNB1 (S777I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 1009790	NM_004975.4(KCNB1):c.2329A>G (p.Ser777Gly)	KCNB1 (S777G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 578493	NM_004975.4(KCNB1):c.2327A>G (p.Lys776Arg)	KCNB1 (K776R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1108910	NM_004975.4(KCNB1):c.2325C>G (p.Pro775=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 1961886	NM_004975.4(KCNB1):c.2324C>T (p.Pro775Leu)	KCNB1 (P775L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 430040	NM_004975.4(KCNB1):c.2324C>A (p.Pro775His)	KCNB1 (P775H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GConflicting classifications of pathogenicity
Select item 425270	NM_004975.4(KCNB1):c.2324C>G (p.Pro775Arg)	KCNB1 (P775R)	Single nucleotide variant (missense variant)	KCNB1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 947951	NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala)	KCNB1 (P775A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GConflicting classifications of pathogenicity
Select item 1542258	NM_004975.4(KCNB1):c.2322C>T (p.Pro774=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 568166	NM_004975.4(KCNB1):c.2320C>A (p.Pro774Thr)	KCNB1 (P774T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2746871	NM_004975.4(KCNB1):c.2319C>T (p.Ser773=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 1319065	NM_004975.4(KCNB1):c.2315C>A (p.Ser772Tyr)	KCNB1 (S772Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2853048	NM_004975.4(KCNB1):c.2313C>T (p.Asp771=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 546484	NM_004975.4(KCNB1):c.2312A>T (p.Asp771Val)	KCNB1 (D771V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GConflicting classifications of pathogenicity
Select item 1600991	NM_004975.4(KCNB1):c.2306G>A (p.Ser769Asn)	KCNB1 (S769N)	Single nucleotide variant (missense variant)	KCNB1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1361565	NM_004975.4(KCNB1):c.2306G>T (p.Ser769Ile)	KCNB1 (S769I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2841631	NM_004975.4(KCNB1):c.2298G>C (p.Leu766=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 1166263	NM_004975.4(KCNB1):c.2298G>T (p.Leu766=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1013456	NM_004975.4(KCNB1):c.2284G>A (p.Asp762Asn)	KCNB1 (D762N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500047	NM_004975.4(KCNB1):c.2279C>A (p.Thr760Lys)	KCNB1 (T760K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2695393	NM_004975.4(KCNB1):c.2274A>T (p.Ala758=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26	GLikely benign
Select item 951533	NM_004975.4(KCNB1):c.2272G>T (p.Ala758Ser)	KCNB1 (A758S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 567109	NM_004975.4(KCNB1):c.2272G>A (p.Ala758Thr)	KCNB1 (A758T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GBenign
Select item 1281175	NM_004975.4(KCNB1):c.2271C>T (p.Asp757=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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