"GeneDx"[submitter] AND "KCNQ2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 58977	GRCh38/hg38 20q13.33(chr20:63095686-63524980)x1	ARFGAP1, BIRC7 +37 more	Copy number loss	See cases	GPathogenic
Select item 339325	NM_172107.4(KCNQ2):c.*295C>T	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1259970	NM_172107.4(KCNQ2):c.*248C>T	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1260705	NM_172107.4(KCNQ2):c.*29C>T	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1252361	NM_172107.4(KCNQ2):c.*23C>A	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1214389	NM_172107.4(KCNQ2):c.*6C>T	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 167205	NM_172107.4(KCNQ2):c.*4G>A	KCNQ2	Single nucleotide variant (3 prime UTR variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1220829	NM_172107.4(KCNQ2):c.*3C>T	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 129343	NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser)	KCNQ2 (R871S +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GBenign/Likely benign
Select item 378032	NM_172107.4(KCNQ2):c.2604C>T (p.Ala868=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 452658	NM_172107.4(KCNQ2):c.2602G>C (p.Ala868Pro)	KCNQ2 (A868P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21781	NM_172107.4(KCNQ2):c.2597del (p.Gly866fs)	KCNQ2 (G838fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 995136	NM_172107.4(KCNQ2):c.2592C>T (p.Asp864=)	KCNQ2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 205938	NM_172107.4(KCNQ2):c.2584T>C (p.Phe862Leu)	KCNQ2 (F862L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205937	NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser)	KCNQ2 (G858S +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 205853	NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=)	KCNQ2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1793174	NM_172107.4(KCNQ2):c.2566G>C (p.Ala856Pro)	KCNQ2 (A874P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 21780	NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu)	KCNQ2 (S855L +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 379065	NM_172107.4(KCNQ2):c.2560C>T (p.Arg854Cys)	KCNQ2 (R854C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 138034	NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=)	KCNQ2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 418594	NM_172107.4(KCNQ2):c.2555del (p.Pro852fs)	KCNQ2 (P824fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 205936	NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu)	KCNQ2 (P852L +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3372007	NM_172107.4(KCNQ2):c.2551C>A (p.Pro851Thr)	KCNQ2 (P820T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138033	NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GBenign/Likely benign
Select item 205935	NM_172107.4(KCNQ2):c.2543C>T (p.Pro848Leu)	KCNQ2 (P848L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 205852	NM_172107.4(KCNQ2):c.2535C>G (p.Leu845=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign/Likely benign
Select item 138032	NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2502645	NM_172107.4(KCNQ2):c.2506G>C (p.Glu836Gln)	KCNQ2 (E805Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502110	NM_172107.4(KCNQ2):c.2500A>G (p.Ile834Val)	KCNQ2 (I834V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1314255	NM_172107.4(KCNQ2):c.2477C>G (p.Pro826Arg)	KCNQ2 (P795R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215252	NM_172107.4(KCNQ2):c.2469C>T (p.Ala823=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 517085	NM_172107.4(KCNQ2):c.2466G>A (p.Ala822=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 205934	NM_172107.4(KCNQ2):c.2465C>T (p.Ala822Val)	KCNQ2 (A822V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1234805	NM_172107.4(KCNQ2):c.2463C>T (p.Tyr821=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 205933	NM_172107.4(KCNQ2):c.2446G>A (p.Ala816Thr)	KCNQ2 (A816T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 699691	NM_172107.4(KCNQ2):c.2409C>T (p.Ser803=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign/Likely benign
Select item 205932	NM_172107.4(KCNQ2):c.2404T>C (p.Phe802Leu)	KCNQ2 (F802L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 419407	NM_172107.4(KCNQ2):c.2401del (p.Ser801fs)	KCNQ2 (S773fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2506824	NM_172107.4(KCNQ2):c.2399G>T (p.Arg800Leu)	KCNQ2 (R769L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138031	NM_172107.4(KCNQ2):c.2385C>T (p.His795=)	KCNQ2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 279817	NM_172107.4(KCNQ2):c.2377G>T (p.Val793Leu)	KCNQ2 (V793L +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 3363283	NM_172107.4(KCNQ2):c.2372C>T (p.Pro791Leu)	KCNQ2 (P760L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304987	NM_172107.4(KCNQ2):c.2369T>C (p.Ile790Thr)	KCNQ2 (I759T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 852085	NM_172107.4(KCNQ2):c.2357C>T (p.Thr786Met)	KCNQ2 (T768M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1302247	NM_172107.4(KCNQ2):c.2344C>T (p.Arg782Trp)	KCNQ2 (R751W +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 385756	NM_172107.4(KCNQ2):c.2344C>A (p.Arg782=)	KCNQ2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 21779	NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr)	KCNQ2 (N780T +4 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 383321	NM_172107.4(KCNQ2):c.2331C>T (p.Pro777=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 205851	NM_172107.4(KCNQ2):c.2330C>G (p.Pro777Arg)	KCNQ2 (P777R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 205850	NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser)	KCNQ2 (P777S +4 more)	Single nucleotide variant (missense variant)	Continuous spike and waves during slow sleep +3 more	GConflicting classifications of pathogenicity
Select item 426357	NM_172107.4(KCNQ2):c.2321G>T (p.Cys774Phe)	KCNQ2 (C774F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129335	NM_172107.4(KCNQ2):c.2316G>A (p.Pro772=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1484021	NM_172107.4(KCNQ2):c.2314_2315inv (p.Pro772Gly)	KCNQ2 (P741G +4 more)	Inversion (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 461417	NM_172107.4(KCNQ2):c.2312C>T (p.Thr771Ile)	KCNQ2 (T771I +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +2 more	GConflicting classifications of pathogenicity
Select item 432454	NM_172107.4(KCNQ2):c.2299C>T (p.Arg767Trp)	KCNQ2 (R767W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1041104	NM_172107.4(KCNQ2):c.2281G>T (p.Ala761Ser)	KCNQ2 (A730S +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 205849	NM_172107.4(KCNQ2):c.2266G>A (p.Gly756Ser)	KCNQ2 (G756S +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 516131	NM_172107.4(KCNQ2):c.2265C>T (p.Tyr755=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 129333	NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys)	KCNQ2 (Y755C +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 205931	NM_172107.4(KCNQ2):c.2245G>T (p.Glu749Ter)	KCNQ2 (E749* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 378031	NM_172107.4(KCNQ2):c.2244C>T (p.His748=)	KCNQ2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 129342	NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=)	KCNQ2	Single nucleotide variant (synonymous variant)	Seizures, benign familial neonatal, 1 +5 more	GBenign
Select item 129341	NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 373718	NM_172107.4(KCNQ2):c.2234C>T (p.Pro745Leu)	KCNQ2 (P745L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 381776	NM_172107.4(KCNQ2):c.2232G>A (p.Pro744=)	KCNQ2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 424526	NM_172107.4(KCNQ2):c.2219T>C (p.Val740Ala)	KCNQ2 (V740A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 510765	NM_172107.4(KCNQ2):c.2217G>C (p.Leu739=)	KCNQ2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 339330	NM_172107.4(KCNQ2):c.2209G>A (p.Gly737Ser)	KCNQ2 (G737S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 388669	NM_172107.4(KCNQ2):c.2208C>T (p.His736=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 1801026	NM_172107.4(KCNQ2):c.2200G>A (p.Gly734Arg)	KCNQ2 (G703R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 461414	NM_172107.4(KCNQ2):c.2173C>T (p.Arg725Cys)	KCNQ2 (R725C +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +2 more	GConflicting classifications of pathogenicity
Select item 697620	NM_172107.4(KCNQ2):c.2133G>A (p.Gln711=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 418894	NM_172107.4(KCNQ2):c.2126dup (p.Val710fs)	KCNQ2 (V679fs +3 more)	Duplication (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 205945	NM_172107.4(KCNQ2):c.2126_2127del (p.Pro709fs)	KCNQ2 (P678fs +3 more)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 7390	NM_172107.4(KCNQ2):c.2127del (p.Val710fs)	KCNQ2 (V710fs +3 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 413249	NM_172107.4(KCNQ2):c.2118C>T (p.Ala706=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1393693	NM_172107.4(KCNQ2):c.2117C>A (p.Ala706Asp)	KCNQ2 (A688D +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1196988	NM_172107.4(KCNQ2):c.2114dup (p.Ala706fs)	KCNQ2 (A675fs +4 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 508732	NM_172107.4(KCNQ2):c.2115G>A (p.Pro705=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 1311778	NM_172107.4(KCNQ2):c.2110C>T (p.Pro704Ser)	KCNQ2 (P673S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138030	NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 205944	NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del)	KCNQ2 (F701del +3 more)	Deletion (inframe_deletion)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GUncertain significance
Select item 1051022	NM_172107.4(KCNQ2):c.2095A>G (p.Lys699Glu)	KCNQ2 (K668E +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 817541	NM_172107.4(KCNQ2):c.2092C>T (p.Gln698Ter)	KCNQ2 (Q698* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 461412	NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met)	KCNQ2 (T696M +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 429899	NM_172107.4(KCNQ2):c.2085del (p.Thr696fs)	KCNQ2 (T668fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1007306	NM_172107.4(KCNQ2):c.2079C>G (p.Ser693Arg)	KCNQ2 (S662R +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 205930	NM_172107.4(KCNQ2):c.2072G>A (p.Arg691His)	KCNQ2 (R691H +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 205848	NM_172107.4(KCNQ2):c.2065A>C (p.Ile689Leu)	KCNQ2 (I689L +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 288380	NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 205928	NM_172107.4(KCNQ2):c.2050G>A (p.Gly684Ser)	KCNQ2 (G684S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 339331	NM_172107.4(KCNQ2):c.2049C>T (p.His683=)	KCNQ2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 129340	NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 381240	NM_172107.4(KCNQ2):c.2007G>A (p.Pro669=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 651375	NM_172107.4(KCNQ2):c.2006C>T (p.Pro669Leu)	KCNQ2 (P669L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1087034	NM_172107.4(KCNQ2):c.2001G>A (p.Ala667=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 373184	NM_172107.4(KCNQ2):c.2000C>T (p.Ala667Val)	KCNQ2 (A667V +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3368642	NM_172107.4(KCNQ2):c.1979G>T (p.Gly660Val)	KCNQ2 (G629V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507190	NM_172107.4(KCNQ2):c.1955del (p.Pro652fs)	KCNQ2 (P621fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

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