"GeneDx"[submitter] AND "KCNQ3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 390591	NM_004519.4(KCNQ3):c.*9A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 205995	NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val)	KCNQ3 (I872V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 372395	NM_004519.4(KCNQ3):c.2611C>G (p.Pro871Ala)	KCNQ3 (P871A +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2 +2 more	GUncertain significance
Select item 3372408	NM_004519.4(KCNQ3):c.2591T>C (p.Val864Ala)	KCNQ3 (V744A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306085	NM_004519.4(KCNQ3):c.2587T>G (p.Ser863Ala)	KCNQ3 (S743A +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 3377976	NM_004519.4(KCNQ3):c.2582C>T (p.Ser861Phe)	KCNQ3 (S741F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373325	NM_004519.4(KCNQ3):c.2569G>C (p.Gly857Arg)	KCNQ3 (G737R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373751	NM_004519.4(KCNQ3):c.2567C>T (p.Thr856Ile)	KCNQ3 (T856I +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 385375	NM_004519.4(KCNQ3):c.2562G>A (p.Ser854=)	KCNQ3	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 391168	NM_004519.4(KCNQ3):c.2556T>G (p.Pro852=)	KCNQ3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 512630	NM_004519.4(KCNQ3):c.2550C>T (p.Ser850=)	KCNQ3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 449652	NM_004519.4(KCNQ3):c.2545G>A (p.Gly849Ser)	KCNQ3 (G849S +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 668522	NM_004519.4(KCNQ3):c.2544C>T (p.Ser848=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures +1 more	GLikely benign
Select item 379082	NM_004519.4(KCNQ3):c.2538G>A (p.Thr846=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures +1 more	GLikely benign
Select item 432492	NM_004519.4(KCNQ3):c.2537C>T (p.Thr846Met)	KCNQ3 (T846M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 850290	NM_004519.4(KCNQ3):c.2534T>C (p.Phe845Ser)	KCNQ3 (F845S +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 701781	NM_004519.4(KCNQ3):c.2514G>A (p.Thr838=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures +1 more	GLikely benign
Select item 205954	NM_004519.4(KCNQ3):c.2491C>T (p.Arg831Trp)	KCNQ3 (R831W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 279820	NM_004519.4(KCNQ3):c.2469dup (p.Ser824fs)	KCNQ3 (S824fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 21412	NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser)	KCNQ3 (N821S +1 more)	Single nucleotide variant (missense variant)	Benign Neonatal Epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 1706237	NM_004519.4(KCNQ3):c.2458C>A (p.Pro820Thr)	KCNQ3 (P700T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508356	NM_004519.4(KCNQ3):c.2451G>T (p.Val817=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures +1 more	GLikely benign
Select item 1703443	NM_004519.4(KCNQ3):c.2446T>C (p.Tyr816His)	KCNQ3 (Y696H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205994	NM_004519.4(KCNQ3):c.2443G>T (p.Asp815Tyr)	KCNQ3 (D815Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1205319	NM_004519.4(KCNQ3):c.2434G>A (p.Asp812Asn)	KCNQ3 (D692N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 391922	NM_004519.4(KCNQ3):c.2388C>T (p.Asn796=)	KCNQ3	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 205993	NM_004519.4(KCNQ3):c.2383G>A (p.Val795Ile)	KCNQ3 (V795I +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 1311477	NM_004519.4(KCNQ3):c.2357G>C (p.Ser786Thr)	KCNQ3 (S666T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205992	NM_004519.4(KCNQ3):c.2351G>A (p.Arg784Gln)	KCNQ3 (R784Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3343683	NM_004519.4(KCNQ3):c.2350C>T (p.Arg784Ter)	KCNQ3 (R664* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 138052	NM_004519.4(KCNQ3):c.2349G>A (p.Thr783=)	KCNQ3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 405218	NM_004519.4(KCNQ3):c.2338C>T (p.Arg780Cys)	KCNQ3 (R780C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2580003	NM_004519.4(KCNQ3):c.2330G>T (p.Arg777Leu)	KCNQ3 (R657L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205990	NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln)	KCNQ3 (R777Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 647590	NM_004519.4(KCNQ3):c.2329C>T (p.Arg777Trp)	KCNQ3 (R777W +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 205989	NM_004519.4(KCNQ3):c.2318G>A (p.Arg773Gln)	KCNQ3 (R773Q +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +1 more	GConflicting classifications of pathogenicity
Select item 2507234	NM_004519.4(KCNQ3):c.2317C>T (p.Arg773Ter)	KCNQ3 (R653* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 138051	NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His)	KCNQ3 (P769H +1 more)	Single nucleotide variant (missense variant)	Benign Neonatal Epilepsy +5 more	GBenign/Likely benign
Select item 1057593	NM_004519.4(KCNQ3):c.2269C>T (p.Arg757Ter)	KCNQ3 (R637* +1 more)	Single nucleotide variant (nonsense)	Benign neonatal seizures +1 more	GUncertain significance
Select item 205988	NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn)	KCNQ3 (D755N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2662784	NM_004519.4(KCNQ3):c.2257C>A (p.Leu753Ile)	KCNQ3 (L633I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430518	NM_004519.4(KCNQ3):c.2237C>T (p.Thr746Met)	KCNQ3 (T746M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 372609	NM_004519.4(KCNQ3):c.2225T>G (p.Val742Gly)	KCNQ3 (V742G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 205987	NM_004519.4(KCNQ3):c.2194G>A (p.Ala732Thr)	KCNQ3 (A732T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987292	NM_004519.4(KCNQ3):c.2187G>T (p.Lys729Asn)	KCNQ3 (K609N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 138050	NM_004519.4(KCNQ3):c.2168G>A (p.Gly723Glu)	KCNQ3 (G723E +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 2503258	NM_004519.4(KCNQ3):c.2149C>T (p.Pro717Ser)	KCNQ3 (P597S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205986	NM_004519.4(KCNQ3):c.2146G>C (p.Asp716His)	KCNQ3 (D716H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 205985	NM_004519.4(KCNQ3):c.2144A>G (p.His715Arg)	KCNQ3 (H715R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 205984	NM_004519.4(KCNQ3):c.2128T>C (p.Tyr710His)	KCNQ3 (Y710H +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +2 more	GBenign/Likely benign
Select item 413257	NM_004519.4(KCNQ3):c.2123G>T (p.Ser708Ile)	KCNQ3 (S708I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2702122	NM_004519.4(KCNQ3):c.2104G>C (p.Val702Leu)	KCNQ3 (V702L +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 138049	NM_004519.4(KCNQ3):c.2097C>T (p.Phe699=)	KCNQ3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1308484	NM_004519.4(KCNQ3):c.2093G>A (p.Ser698Asn)	KCNQ3 (S578N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 810313	NM_004519.4(KCNQ3):c.2086C>A (p.Pro696Thr)	KCNQ3 (P696T +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 3367510	NM_004519.4(KCNQ3):c.2084C>A (p.Pro695Gln)	KCNQ3 (P575Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 945911	NM_004519.4(KCNQ3):c.2078dup (p.Glu694fs)	KCNQ3 (E694fs +1 more)	Duplication (frameshift variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 239950	NM_004519.4(KCNQ3):c.2079G>A (p.Pro693=)	KCNQ3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 429488	NM_004519.4(KCNQ3):c.2074C>G (p.Pro692Ala)	KCNQ3 (P692A +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2 +1 more	GUncertain significance
Select item 570094	NM_004519.4(KCNQ3):c.2072G>A (p.Gly691Asp)	KCNQ3 (G691D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 205983	NM_004519.4(KCNQ3):c.2071G>A (p.Gly691Ser)	KCNQ3 (G691S +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2 +3 more	GBenign/Likely benign
Select item 1707007	NM_004519.4(KCNQ3):c.2060A>G (p.Tyr687Cys)	KCNQ3 (Y567C +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2 +3 more	GUncertain significance
Select item 393167	NM_004519.4(KCNQ3):c.2035G>A (p.Asp679Asn)	KCNQ3 (D679N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 516154	NM_004519.4(KCNQ3):c.2034C>T (p.Ser678=)	KCNQ3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1328639	NM_004519.4(KCNQ3):c.2011AAG[1] (p.Lys672del)	KCNQ3 (K552del +1 more)	Microsatellite (inframe_deletion)	Benign neonatal seizures +1 more	GUncertain significance
Select item 1784290	NM_004519.4(KCNQ3):c.2004A>C (p.Glu668Asp)	KCNQ3 (E668D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 211237	NM_004519.4(KCNQ3):c.1995G>A (p.Ser665=)	KCNQ3	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 194513	NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu)	KCNQ3 (S665L +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +3 more	GConflicting classifications of pathogenicity
Select item 471220	NM_004519.4(KCNQ3):c.1986C>A (p.Gly662=)	KCNQ3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 378036	NM_004519.4(KCNQ3):c.1964C>T (p.Thr655Met)	KCNQ3 (T655M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 205981	NM_004519.4(KCNQ3):c.1958A>G (p.Gln653Arg)	KCNQ3 (Q653R +1 more)	Single nucleotide variant (missense variant)	Benign Neonatal Epilepsy +5 more	GBenign/Likely benign
Select item 138048	NM_004519.4(KCNQ3):c.1947G>A (p.Arg649=)	KCNQ3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 138047	NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=)	KCNQ3	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 405217	NM_004519.4(KCNQ3):c.1918G>A (p.Val640Met)	KCNQ3 (V640M +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +2 more	GUncertain significance
Select item 138046	NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures +3 more	GBenign/Likely benign
Select item 449145	NM_004519.4(KCNQ3):c.1885G>A (p.Val629Ile)	KCNQ3 (V629I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 206003	NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu)	KCNQ3 (V629L +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2 +4 more	GUncertain significance
Select item 205980	NM_004519.4(KCNQ3):c.1885G>T (p.Val629Phe)	KCNQ3 (V629F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 421841	NM_004519.4(KCNQ3):c.1885-5dup	KCNQ3	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1253411	NM_004519.4(KCNQ3):c.1885-51G>A	KCNQ3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216922	NM_004519.4(KCNQ3):c.1885-52C>T	KCNQ3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670591	NM_004519.4(KCNQ3):c.1885-67C>G	KCNQ3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1212671	NM_004519.4(KCNQ3):c.1885-79del	KCNQ3	Deletion (intron variant)	not provided	GLikely benign
Select item 1290969	NM_004519.4(KCNQ3):c.1885-87A>C	KCNQ3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263968	NM_004519.4(KCNQ3):c.1885-88C>G	KCNQ3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238051	NM_004519.4(KCNQ3):c.1885-104dup	KCNQ3	Duplication (intron variant)	not provided	GBenign
Select item 1212831	NM_004519.4(KCNQ3):c.1885-89_1885-88insAG	KCNQ3	Insertion (intron variant)	not provided	GLikely benign
Select item 1196580	NM_004519.4(KCNQ3):c.1885-88C>A	KCNQ3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674991	NM_004519.4(KCNQ3):c.1885-110C>T	KCNQ3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209390	NM_004519.4(KCNQ3):c.1885-177G>A	KCNQ3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671735	NM_004519.4(KCNQ3):c.1885-264A>G	KCNQ3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677507	NM_004519.4(KCNQ3):c.1884+244T>C	KCNQ3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227168	NM_004519.4(KCNQ3):c.1884+102G>T	KCNQ3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203677	NM_004519.4(KCNQ3):c.1884+81dup	KCNQ3	Duplication (intron variant)	not provided	GLikely benign
Select item 1266721	NM_004519.4(KCNQ3):c.1884+81T>C	KCNQ3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 205979	NM_004519.4(KCNQ3):c.1850G>C (p.Ser617Thr)	KCNQ3 (S617T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379069	NM_004519.4(KCNQ3):c.1839C>T (p.Ile613=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures +1 more	GLikely benign
Select item 385130	NM_004519.4(KCNQ3):c.1800-10T>C	KCNQ3	Single nucleotide variant (intron variant)	Benign neonatal seizures +1 more	GLikely benign
Select item 382938	NM_004519.4(KCNQ3):c.1800-12G>A	KCNQ3	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity

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