"GeneDx"[submitter] AND "KCNB1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146041	GRCh38/hg38 20q13.13(chr20:49098782-49465707)x3	DDX27, KCNB1 +15 more	Copy number gain	See cases	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 380824	NM_004975.4(KCNB1):c.2570G>A (p.Ser857Asn)	KCNB1 (S857N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +2 more	GBenign
Select item 514758	NM_004975.4(KCNB1):c.2520C>T (p.Asp840=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26 +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 382142	NM_004975.4(KCNB1):c.2473C>T (p.Pro825Ser)	KCNB1 (P825S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +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 2663697	NM_004975.4(KCNB1):c.2470G>C (p.Gly824Arg)	KCNB1 (G824R)	Single nucleotide variant (missense variant)	not provided	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 373635	NM_004975.4(KCNB1):c.2411C>T (p.Thr804Ile)	KCNB1 (T804I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1357868	NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn)	KCNB1 (S799N)	Single nucleotide variant (missense variant)	not provided +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)	Developmental and epileptic encephalopathy, 26 +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)	Developmental and epileptic encephalopathy, 26 +2 more	GBenign/Likely benign
Select item 390369	NM_004975.4(KCNB1):c.2364G>A (p.Thr788=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 542062	NM_004975.4(KCNB1):c.2363C>A (p.Thr788Lys)	KCNB1 (T788K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 384973	NM_004975.4(KCNB1):c.2334C>T (p.Leu778=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26 +2 more	GBenign
Select item 578493	NM_004975.4(KCNB1):c.2327A>G (p.Lys776Arg)	KCNB1 (K776R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	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)	Developmental and epileptic encephalopathy, 26 +1 more	GConflicting classifications of pathogenicity
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 1166263	NM_004975.4(KCNB1):c.2298G>T (p.Leu766=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26 +1 more	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
Select item 388390	NM_004975.4(KCNB1):c.2250G>A (p.Ala750=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26 +1 more	GBenign/Likely benign
Select item 848107	NM_004975.4(KCNB1):c.2249C>T (p.Ala750Val)	KCNB1 (A750V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GBenign/Likely benign
Select item 1804422	NM_004975.4(KCNB1):c.2238_2243del (p.Asn747_Phe748del)	KCNB1	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1191617	NM_004975.4(KCNB1):c.2207G>A (p.Arg736Gln)	KCNB1 (R736Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GBenign/Likely benign
Select item 854182	NM_004975.4(KCNB1):c.2206dup (p.Arg736fs)	KCNB1 (R736fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 26 +1 more	GUncertain significance
Select item 572894	NM_004975.4(KCNB1):c.2203C>G (p.Pro735Ala)	KCNB1 (P735A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3371818	NM_004975.4(KCNB1):c.2200_2201delinsA (p.Pro734fs)	KCNB1 (P734fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3343244	NM_004975.4(KCNB1):c.2191G>C (p.Ala731Pro)	KCNB1 (A731P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1198617	NM_004975.4(KCNB1):c.2178C>T (p.Tyr726=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 647767	NM_004975.4(KCNB1):c.2143G>C (p.Asp715His)	KCNB1 (D715H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GUncertain significance
Select item 386443	NM_004975.4(KCNB1):c.2136G>A (p.Thr712=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 383873	NM_004975.4(KCNB1):c.2115C>T (p.Val705=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26 +1 more	GLikely benign
Select item 382943	NM_004975.4(KCNB1):c.2106G>A (p.Ala702=)	KCNB1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 762094	NM_004975.4(KCNB1):c.2105C>T (p.Ala702Val)	KCNB1 (A702V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GBenign/Likely benign
Select item 938351	NM_004975.4(KCNB1):c.2093G>A (p.Arg698Gln)	KCNB1 (R698Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GLikely benign
Select item 451846	NM_004975.4(KCNB1):c.2091C>G (p.Asn697Lys)	KCNB1 (N697K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310109	NM_004975.4(KCNB1):c.2079C>A (p.Asp693Glu)	KCNB1 (D693E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310973	NM_004975.4(KCNB1):c.2069T>C (p.Met690Thr)	KCNB1 (M690T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380822	NM_004975.4(KCNB1):c.2058C>T (p.Pro686=)	KCNB1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 387511	NM_004975.4(KCNB1):c.2055C>A (p.Leu685=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26 +1 more	GLikely benign
Select item 1302405	NM_004975.4(KCNB1):c.2029A>G (p.Met677Val)	KCNB1 (M677V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 576599	NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln)	KCNB1 (R670Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 385555	NM_004975.4(KCNB1):c.1997C>T (p.Pro666Leu)	KCNB1 (P666L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3371885	NM_004975.4(KCNB1):c.1960A>G (p.Ile654Val)	KCNB1 (I654V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311153	NM_004975.4(KCNB1):c.1942_1945del (p.Gln648fs)	KCNB1 (Q648fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1219470	NM_004975.4(KCNB1):c.1935T>G (p.Asp645Glu)	KCNB1 (D645E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GUncertain significance
Select item 542061	NM_004975.4(KCNB1):c.1905T>C (p.Gly635=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 453029	NM_004975.4(KCNB1):c.1898G>A (p.Ser633Asn)	KCNB1 (S633N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368340	NM_004975.4(KCNB1):c.1892G>A (p.Gly631Asp)	KCNB1 (G631D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809668	NM_004975.4(KCNB1):c.1883G>A (p.Gly628Glu)	KCNB1 (G628E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 392453	NM_004975.4(KCNB1):c.1880G>A (p.Arg627Gln)	KCNB1 (R627Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1304758	NM_004975.4(KCNB1):c.1843_1862del (p.Lys615fs)	KCNB1 (K615fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 26 +1 more	GUncertain significance
Select item 661163	NM_004975.4(KCNB1):c.1862C>T (p.Ala621Val)	KCNB1 (A621V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +2 more	GConflicting classifications of pathogenicity
Select item 708213	NM_004975.4(KCNB1):c.1861G>T (p.Ala621Ser)	KCNB1 (A621S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2243101	NM_004975.4(KCNB1):c.1852G>A (p.Gly618Ser)	KCNB1 (G618S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 380823	NM_004975.4(KCNB1):c.1847C>G (p.Thr616Ser)	KCNB1 (T616S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +2 more	GBenign
Select item 383226	NM_004975.4(KCNB1):c.1837C>T (p.Pro613Ser)	KCNB1 (P613S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +2 more	GBenign
Select item 386675	NM_004975.4(KCNB1):c.1821C>T (p.Ser607=)	KCNB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3365218	NM_004975.4(KCNB1):c.1811T>A (p.Phe604Tyr)	KCNB1 (F604Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 680366	NM_004975.4(KCNB1):c.1800G>A (p.Glu600=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26 +1 more	GLikely benign
Select item 384611	NM_004975.4(KCNB1):c.1788A>T (p.Thr596=)	KCNB1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 382675	NM_004975.4(KCNB1):c.1734G>C (p.Gly578=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26 +1 more	GBenign/Likely benign
Select item 1311373	NM_004975.4(KCNB1):c.1724G>T (p.Arg575Leu)	KCNB1 (R575L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 392965	NM_004975.4(KCNB1):c.1723C>T (p.Arg575Cys)	KCNB1 (R575C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GConflicting classifications of pathogenicity
Select item 653828	NM_004975.4(KCNB1):c.1705G>A (p.Val569Ile)	KCNB1 (V569I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GBenign/Likely benign
Select item 391756	NM_004975.4(KCNB1):c.1693A>G (p.Ile565Val)	KCNB1 (I565V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1804245	NM_004975.4(KCNB1):c.1687G>T (p.Glu563Ter)	KCNB1 (E563*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 646121	NM_004975.4(KCNB1):c.1655C>T (p.Ala552Val)	KCNB1 (A552V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1215098	NM_004975.4(KCNB1):c.1654G>A (p.Ala552Thr)	KCNB1 (A552T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 938424	NM_004975.4(KCNB1):c.1606A>T (p.Met536Leu)	KCNB1 (M536L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GUncertain significance
Select item 426848	NM_004975.4(KCNB1):c.1573_1587dup (p.Asn525_Leu529dup)	KCNB1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 382765	NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile)	KCNB1 (V526I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 515154	NM_004975.4(KCNB1):c.1551G>A (p.Ser517=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1169000	NM_004975.4(KCNB1):c.1550C>T (p.Ser517Leu)	KCNB1 (S517L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 682328	NM_004975.4(KCNB1):c.1503T>C (p.Ser501=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3252148	NM_004975.4(KCNB1):c.1438G>T (p.Asp480Tyr)	KCNB1 (D480Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364079	NM_004975.4(KCNB1):c.1422G>C (p.Lys474Asn)	KCNB1 (K474N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385907	NM_004975.4(KCNB1):c.1389T>A (p.Ile463=)	KCNB1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 26 +2 more	GBenign/Likely benign
Select item 475257	NM_004975.4(KCNB1):c.1388T>C (p.Ile463Thr)	KCNB1 (I463T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1190347	NM_004975.4(KCNB1):c.1371C>G (p.Ser457Arg)	KCNB1 (S457R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385978	NM_004975.4(KCNB1):c.1367G>A (p.Arg456Gln)	KCNB1 (R456Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 934441	NM_004975.4(KCNB1):c.1366C>G (p.Arg456Gly)	KCNB1 (R456G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1169459	NM_004975.4(KCNB1):c.1356T>C (p.Asp452=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 817579	NM_004975.4(KCNB1):c.1320_1339dup (p.Ser447Ter)	KCNB1 (S447*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 669059	NM_004975.4(KCNB1):c.1326T>C (p.Asn442=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 503975	NM_004975.4(KCNB1):c.1314_1315del (p.Arg438fs)	KCNB1 (R438fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 384311	NM_004975.4(KCNB1):c.1305T>C (p.Ala435=)	KCNB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2578067	NM_004975.4(KCNB1):c.1298G>A (p.Arg433Gln)	KCNB1 (R433Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420881	NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter)	KCNB1 (R433*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 387661	NM_004975.4(KCNB1):c.1296G>A (p.Arg432=)	KCNB1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 421307	NM_004975.4(KCNB1):c.1265A>C (p.Glu422Ala)	KCNB1 (E422A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 859281	NM_004975.4(KCNB1):c.1246T>C (p.Phe416Leu)	KCNB1 (F416L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26 +1 more	GPathogenic
Select item 2504540	NM_004975.4(KCNB1):c.1232T>A (p.Ile411Asn)	KCNB1 (I411N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2505909	NM_004975.4(KCNB1):c.1204G>T (p.Val402Phe)	KCNB1 (V402F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452347	NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr)	KCNB1 (C397Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 383248	NM_004975.4(KCNB1):c.1182G>A (p.Gly394=)	KCNB1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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