ClinVar数据库疾病信息搜索结果

KCNQ2中国

Name Gene Condition Clinical significance (Last reviewed) Review status GRCh37Chromosome GRCh37Location GRCh38Chromosome GRCh38Location VariationID AlleleID

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NM_172107.2:c.1652T>C KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 369803 354041
NC_000020.11:g.(?_63413450)_(63415126_?)del KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 369796 354040
NM_172107.2:c.1264G>A KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 369793 354039
NM_172107.2(KCNQ2):c.1119-?_*382del KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 369787 354037
NM_172107.2(KCNQ2):c.388-?_1301+?del KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 369750 354036
NM_172107.2(KCNQ2):c.388-682_1118+?del KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 369749 354035
NM_172107.2(KCNQ2):c.297-?_1247+?del KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 369745 354034
NM_172107.2:c.1-?c.993+?del KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 369740 354033
NM_172107.2:c.(1228_1230)del12 KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Apr 27, 2010) no assertion criteria provided 39096 47702
KCNQ2, 10-BP DEL/1-BP INS, NT761 KCNQ2 Benign familial neonatal seizures 1|Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Dec 1, 2005) no assertion criteria provided 7387 22426
KCNQ2, 1-BP DEL, 1846T KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 1, 1999) no assertion criteria provided 7384 22423
NC_000020.10:g.62015806_62064474del48669 KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Apr 27, 2010) no assertion criteria provided 20 62015806 - 62064474 42118 51284
NM_172107.3(KCNQ2):c.*421C>T KCNQ2 KCNQ2-Related Disorders Likely benign(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62037576 20 63406223 339322 351404
NM_172107.3(KCNQ2):c.*413G>A KCNQ2 KCNQ2-Related Disorders Uncertain significance(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62037584 20 63406231 339323 336276
NM_172107.3(KCNQ2):c.*412C>T KCNQ2 KCNQ2-Related Disorders Uncertain significance(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62037585 20 63406232 339324 336277
NM_172107.3(KCNQ2):c.*295C>T KCNQ2 KCNQ2-Related Disorders Benign(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62037702 20 63406349 339325 351405
NM_172107.3(KCNQ2):c.*248C>T KCNQ2 KCNQ2-Related Disorders Benign(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62037749 20 63406396 339326 336279
NM_172107.3(KCNQ2):c.*110G>A KCNQ2 KCNQ2-Related Disorders Likely benign(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62037887 20 63406534 339327 351406
NM_172107.3(KCNQ2):c.*4G>A KCNQ2 not specified|KCNQ2-Related Disorders Benign/Likely benign(Last reviewed: Jun 14, 2016) criteria provided, multiple submitters, no conflicts 20 62037993 20 63406640 167205 177786
NM_172107.3(KCNQ2):c.2613G>T (p.Arg871Ser) KCNQ2 Early infantile epileptic encephalopathy 7|not specified|Early infantile epileptic encephalopathy Conflicting interpretations of pathogenicity(Last reviewed: Jul 18, 2016) criteria provided, conflicting interpretations 20 62038003 20 63406650 129343 134789
NM_172107.3(KCNQ2):c.2605_2609dupGGGCC (p.Arg871Glyfs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62038007 - 62038011 20 63406654 - 63406658 21782 34634
NM_172107.3(KCNQ2):c.2604C>T (p.Ala868=) KCNQ2 not specified Likely benign(Last reviewed: Jan 8, 2016) criteria provided, single submitter 20 62038012 20 63406659 378032 379743
NM_172107.3(KCNQ2):c.2599_2603dupTGGGC (p.Arg871Glyfs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62038013 - 62038017 20 63406660 - 63406664 369815 353970
NM_172107.3(KCNQ2):c.2602G>C (p.Ala868Pro) KCNQ2 not specified Uncertain significance(Last reviewed: Oct 6, 2017) criteria provided, single submitter 20 62038014 20 63406661 452658 446281
NM_172107.3(KCNQ2):c.2597delG (p.Gly866Alafs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62038019 20 63406666 21781 34633
NM_172107.3(KCNQ2):c.2584T>C (p.Phe862Leu) KCNQ2 not specified Uncertain significance(Last reviewed: Jan 17, 2017) criteria provided, single submitter 20 62038032 20 63406679 205938 203689
NM_172107.3(KCNQ2):c.2572G>A (p.Gly858Ser) KCNQ2 not specified|not provided Uncertain significance(Last reviewed: May 31, 2017) criteria provided, single submitter 20 62038044 20 63406691 205937 203690
NM_172107.3(KCNQ2):c.2571C>T (p.Thr857=) KCNQ2 not specified|Early infantile epileptic encephalopathy Benign/Likely benign(Last reviewed: Aug 15, 2016) criteria provided, multiple submitters, no conflicts 20 62038045 20 63406692 205853 203691
NM_172107.3(KCNQ2):c.2564C>T (p.Ser855Leu) KCNQ2 Benign familial neonatal seizures 1 Benign(Last reviewed: Apr 27, 2010) no assertion criteria provided 20 62038052 20 63406699 21780 34632
NM_172107.3(KCNQ2):c.2560C>T (p.Arg854Cys) KCNQ2 not specified Likely benign(Last reviewed: Sep 16, 2016) criteria provided, single submitter 20 62038056 20 63406703 379065 378378
NM_172107.3(KCNQ2):c.2556G>A (p.Pro852=) KCNQ2 not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Benign/Likely benign(Last reviewed: May 7, 2017) criteria provided, multiple submitters, no conflicts 20 62038060 20 63406707 138034 141737
NM_172107.3(KCNQ2):c.2555delC (p.Pro852Argfs) KCNQ2 not provided Pathogenic(Last reviewed: Jul 16, 2015) criteria provided, single submitter 20 62038061 20 63406708 418594 410812
NM_172107.3(KCNQ2):c.2555C>T (p.Pro852Leu) KCNQ2 not specified Uncertain significance(Last reviewed: Oct 13, 2017) criteria provided, single submitter 20 62038061 20 63406708 205936 203692
NM_172107.3(KCNQ2):c.2544G>A (p.Pro848=) KCNQ2 not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Benign/Likely benign(Last reviewed: Jul 20, 2017) criteria provided, multiple submitters, no conflicts 20 62038072 20 63406719 138033 141736
NM_172107.3(KCNQ2):c.2543C>T (p.Pro848Leu) KCNQ2 not specified Uncertain significance(Last reviewed: Mar 21, 2014) criteria provided, single submitter 20 62038073 20 63406720 205935 203693
NM_172107.3(KCNQ2):c.2535C>G (p.Leu845=) KCNQ2 not specified|Early infantile epileptic encephalopathy Benign(Last reviewed: Aug 3, 2017) criteria provided, multiple submitters, no conflicts 20 62038081 20 63406728 205852 203694
NM_172107.3(KCNQ2):c.2529C>T (p.Ser843=) KCNQ2 not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Benign/Likely benign(Last reviewed: Jul 28, 2017) criteria provided, multiple submitters, no conflicts 20 62038087 20 63406734 138032 141735
NM_172107.3(KCNQ2):c.2469C>T (p.Ala823=) KCNQ2 KCNQ2-Related Disorders Uncertain significance(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62038147 20 63406794 339328 351407
NM_172107.3(KCNQ2):c.2465C>T (p.Ala822Val) KCNQ2 not specified Uncertain significance(Last reviewed: Sep 12, 2014) criteria provided, single submitter 20 62038151 20 63406798 205934 203695
NM_172107.3(KCNQ2):c.2464G>A (p.Ala822Thr) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Apr 22, 2017) criteria provided, single submitter 20 62038152 2063406799 461419 470980
NM_172107.3(KCNQ2):c.2446G>A (p.Ala816Thr) KCNQ2 not specified Uncertain significance(Last reviewed: Nov 11, 2016) criteria provided, single submitter 20 62038170 20 63406817 205933 203696
NM_172108.4(KCNQ2):c.2332delC (p.Gln778Serfs) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: May 1, 2016) no assertion criteria provided 20 62038191 20 63406838 374272 361235
NM_172107.3(KCNQ2):c.2404T>C (p.Phe802Leu) KCNQ2 not specified Uncertain significance(Last reviewed: Mar 22, 2013) criteria provided, single submitter 20 62038212 20 63406859 205932 203697
NM_172107.3(KCNQ2):c.2401delT (p.Ser801Profs) KCNQ2 not provided Pathogenic(Last reviewed: Jul 2, 2015) criteria provided, single submitter 20 62038215 20 63406862 419407 410813
NM_172107.3(KCNQ2):c.2385C>T (p.His795=) KCNQ2 not specified|Early infantile epileptic encephalopathy Benign/Likely benign(Last reviewed: Jun 20, 2017) criteria provided, multiple submitters, no conflicts 20 62038231 20 63406878 138031 141734
NM_172107.3(KCNQ2):c.2377G>T (p.Val793Leu) KCNQ2 not specified|Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Jul 26, 2017) criteria provided, multiple submitters, no conflicts 20 62038239 20 63406886 279817 264882
NM_172107.3(KCNQ2):c.2373G>A (p.Pro791=) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: Jun 26, 2017) criteria provided, single submitter 20 62038243 20 63406890461418 471462
NM_172107.3(KCNQ2):c.2358G>A (p.Thr786=) KCNQ2 not specified Uncertain significance(Last reviewed: Jul 4, 2014) criteria provided, single submitter 20 62038258 20 63406905 194801 191964
NM_172107.3(KCNQ2):c.2355C>A (p.Asp785Glu) KCNQ2 not provided Uncertain significance(Last reviewed: Jun 30, 2017) no assertion criteria provided 20 62038261 20 63406908 444569 438209
NM_172107.3(KCNQ2):c.2344C>A (p.Arg782=) KCNQ2 not specified Likely benign(Last reviewed: May 5, 2016) criteria provided, single submitter 20 62038272 20 63406919 385756 378384
NM_172107.3(KCNQ2):c.2339A>C (p.Asn780Thr) KCNQ2 Benign familial neonatal seizures 1|not specified|KCNQ2-Related Disorders Benign(Last reviewed: Apr 26, 2017) criteria provided, multiple submitters, no conflicts 20 62038277 20 63406924 21779 34631
NM_172107.3(KCNQ2):c.2331C>T (p.Pro777=) KCNQ2 not specified Likely benign(Last reviewed: Feb 4, 2016) criteria provided, single submitter 20 62038285 20 63406932 383321 379744
NM_172107.3(KCNQ2):c.2330C>G (p.Pro777Arg) KCNQ2 not specified Likely benign(Last reviewed: Nov 15, 2016) criteria provided, single submitter 20 62038286 20 63406933 205851 203698
NM_172107.3(KCNQ2):c.2329C>T (p.Pro777Ser) KCNQ2 not specified|Continuous spike and waves during slow-wave sleep syndrome Conflicting interpretations of pathogenicity(Last reviewed: Nov 16, 2016) criteria provided, conflicting interpretations 20 62038287 20 63406934 205850 203699
NM_172107.3(KCNQ2):c.2321G>T (p.Cys774Phe) KCNQ2 not specified Uncertain significance(Last reviewed: Apr 19, 2017) criteria provided, single submitter 20 62038295 20 63406942 426357 415695
NM_172107.3(KCNQ2):c.2318dupG (p.Cys774Leufs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62038298 20 63406945 369814 354043
NM_172107.3(KCNQ2):c.2316G>A (p.Pro772=) KCNQ2 not provided Uncertain significance(Last reviewed: Apr 5, 2013) criteria provided, single submitter 20 62038300 20 63406947 129335 134781
NM_172107.3(KCNQ2):c.2312C>T (p.Thr771Ile) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Jul 28, 2017) criteria provided, single submitter 20 62038304 20 63406951 461417 471463
NM_172107.3(KCNQ2):c.2299C>T (p.Arg767Trp) KCNQ2 not specified Uncertain significance(Last reviewed: Jun 2, 2017) criteria provided, single submitter 20 62038317 20 63406964 432454 426350
NM_172107.3(KCNQ2):c.2296delC (p.Leu766Cysfs) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: May 1, 2016) no assertion criteria provided 20 62038320 20 63406967 374390 361236
NM_172107.3(KCNQ2):c.2281G>A (p.Ala761Thr) KCNQ2 not provided Uncertain significance(Last reviewed: Aug 8, 2013) criteria provided, single submitter 20 62038335 20 63406982 129334 134780
NM_172107.3(KCNQ2):c.2279G>A (p.Arg760His) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: May 28, 2015) criteria provided, single submitter 20 62038337 20 63406984 216827 213472
NM_172107.3(KCNQ2):c.2278delC (p.Arg760Alafs) KCNQ2 Early infantile epileptic encephalopathy Likely pathogenic(Last reviewed: Apr 23, 2017) criteria provided, single submitter 20 62038338 20 63406985 461416 470480
NM_172107.3(KCNQ2):c.2266G>A (p.Gly756Ser) KCNQ2 not specified Likely benign(Last reviewed: Dec 15, 2016) criteria provided, single submitter 20 62038350 20 63406997 205849 203700
NM_172107.3(KCNQ2):c.2264A>G (p.Tyr755Cys) KCNQ2 not specified|Early infantile epileptic encephalopathy Benign/Likely benign(Last reviewed: Aug 9, 2017) criteria provided, multiple submitters, no conflicts 20 62038352 20 63406999 129333 134779
NM_172107.3(KCNQ2):c.2252C>T (p.Ser751Leu) KCNQ2 KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Mar 22, 2017) criteria provided, multiple submitters, no conflicts 20 62038364 20 63407011 339329 346004
NM_172107.3(KCNQ2):c.2245G>T (p.Glu749Ter) KCNQ2 not provided Pathogenic(Last reviewed: Nov 12, 2013) criteria provided, single submitter 20 62038371 20 63407018 205931 203701
NM_172107.3(KCNQ2):c.2244C>T (p.His748=) KCNQ2 not specified|Early infantile epileptic encephalopathy Likely benign(Last reviewed: Jan 10, 2017) criteria provided, multiple submitters, no conflicts 20 62038372 20 63407019 378031 378388
NM_172107.3(KCNQ2):c.2238T>A (p.Pro746=) KCNQ2 Benign familial neonatal seizures 1|not specified|KCNQ2-Related Disorders Benign(Last reviewed: Apr 27, 2017) criteria provided, multiple submitters, no conflicts 20 62038378 20 63407025 129342 134788
NM_172107.3(KCNQ2):c.2235G>A (p.Pro745=) KCNQ2 not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Benign/Likely benign(Last reviewed: Aug 1, 2017) criteria provided, multiple submitters, no conflicts 20 62038381 20 63407028 129341 134787
NM_172107.3(KCNQ2):c.2234C>T (p.Pro745Leu) KCNQ2 not specified Uncertain significance(Last reviewed: Nov 29, 2016) criteria provided, single submitter 20 62038382 20 63407029 373718 360471
NM_172107.3(KCNQ2):c.2232G>A (p.Pro744=) KCNQ2 not specified Likely benign(Last reviewed: Nov 18, 2015) criteria provided, single submitter 20 62038384 20 63407031 381776 377136
NM_172107.3(KCNQ2):c.2229G>A (p.Pro743=) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: Feb 24, 2017) criteria provided, single submitter 20 62038387 20 63407034461415 470482
NM_172107.3(KCNQ2):c.2219T>C (p.Val740Ala) KCNQ2 not specified Uncertain significance(Last reviewed: Mar 30, 2017) criteria provided, single submitter 20 62038397 20 63407044 424526 410814
NM_172107.3(KCNQ2):c.2209G>A (p.Gly737Ser) KCNQ2 KCNQ2-Related Disorders Uncertain significance(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62038407 20 63407054 339330 346010
NM_172107.3(KCNQ2):c.2208C>T (p.His736=) KCNQ2 not specified Likely benign(Last reviewed: Oct 24, 2017) criteria provided, single submitter 20 62038408 20 63407055 388669 378167
NM_172107.3(KCNQ2):c.2173_2179dup (p.Gly727Alafs) KCNQ2 Early infantile epileptic encephalopathy Likely pathogenic(Last reviewed: Jan 18, 2017) criteria provided, single submitter 20 62038437 - 62038443 20 63407084 - 63407090 405212 404194
NM_172107.3(KCNQ2):c.2173C>T (p.Arg725Cys) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Jun 27, 2017) criteria provided, single submitter 20 62038443 2063407090 461414 469438
NM_172107.3(KCNQ2):c.2165G>A (p.Ser722Asn) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: May 18, 2017) criteria provided, single submitter 20 62038451 20 63407098 461413 470984
NM_172107.3(KCNQ2):c.2147C>T (p.Thr716Ile) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic criteria provided, single submitter 20 62038469 20 63407116 219239 217256
NM_172107.3(KCNQ2):c.2126_2127delCT (p.Pro709Argfs) KCNQ2 not provided|Inborn genetic diseases Pathogenic(Last reviewed: Mar 31, 2014) criteria provided, multiple submitters, no conflicts 20 62038489 - 62038490 20 63407136 - 63407137 205945 203702
NM_172107.3(KCNQ2):c.2127delT (p.Val710Serfs) KCNQ2 Benign familial neonatal seizures 1|Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Nov 15, 2017) criteria provided, multiple submitters, no conflicts 20 62038489 20 63407136 7390 22429
NM_172107.3(KCNQ2):c.2126dupC (p.Val710Cysfs) KCNQ2 not provided Pathogenic(Last reviewed: Apr 13, 2015) criteria provided, single submitter 20 62038490 20 63407137 418894 410815
NM_172107.3(KCNQ2):c.2118C>T (p.Ala706=) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: May 8, 2016) criteria provided, single submitter 20 62038498 20 63407145 413249 404188
NM_172107.3(KCNQ2):c.2106G>A (p.Ser702=) KCNQ2 not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Benign/Likely benign(Last reviewed: Aug 7, 2017) criteria provided, multiple submitters, no conflicts 20 62038510 20 63407157 138030 141733
NM_172107.3(KCNQ2):c.2102_2104delTCT (p.Phe701del) KCNQ2 not specified|Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Mar 28, 2017) criteria provided, multiple submitters, no conflicts 20 62038512 - 62038514 20 63407159 - 63407161 205944 203703
NM_172107.3(KCNQ2):c.2087C>T (p.Thr696Met) KCNQ2 Early infantile epileptic encephalopathy Benign(Last reviewed: Apr 17, 2017) criteria provided, single submitter 20 62038529 20 63407176 461412 471465
NM_172107.3(KCNQ2):c.2085delC (p.Thr696Argfs) KCNQ2 not provided Pathogenic(Last reviewed: Sep 4, 2015) criteria provided, single submitter 20 62038531 20 63407178 429899 422335
NM_172107.3(KCNQ2):c.2081G>C (p.Ser694Thr) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Mar 14, 2017) criteria provided, single submitter 20 62038535 2063407182 405206 404190
NM_172107.3(KCNQ2):c.2072G>A (p.Arg691His) KCNQ2 not specified Uncertain significance(Last reviewed: Aug 15, 2013) criteria provided, single submitter 20 62038544 20 63407191 205930 203704
NM_172107.3(KCNQ2):c.2065A>C (p.Ile689Leu) KCNQ2 not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Benign/Likely benign(Last reviewed: Dec 21, 2016) criteria provided, multiple submitters, no conflicts 20 62038551 20 63407198 205848 203705
NM_172107.3(KCNQ2):c.2052C>T (p.Gly684=) KCNQ2 not specified Uncertain significance(Last reviewed: Jun 30, 2016) criteria provided, single submitter 20 62038564 20 63407211 288380 272617
NM_172107.3(KCNQ2):c.2050G>A (p.Gly684Ser) KCNQ2 not specified Uncertain significance(Last reviewed: Nov 26, 2013) criteria provided, single submitter 20 62038566 20 63407213 205928 203706
NM_172107.3(KCNQ2):c.2049C>T (p.His683=) KCNQ2 not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Conflicting interpretations of pathogenicity(Last reviewed: Jan 10, 2017) criteria provided, conflicting interpretations 20 62038567 20 63407214 339331 351408
NM_172107.3(KCNQ2):c.2031G>A (p.Arg677=) KCNQ2 not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Benign/Likely benign(Last reviewed: Aug 11, 2017) criteria provided, multiple submitters, no conflicts 20 62038585 20 63407232 129340 134786
NM_172107.3(KCNQ2):c.2015delG (p.Ser672Thrfs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62038601 20 63407248 21775 34627
NM_172107.3(KCNQ2):c.2007G>A (p.Pro669=) KCNQ2 not specified Likely benign(Last reviewed: Jul 28, 2017) criteria provided, single submitter 20 62038609 20 63407256 381240 378173
NM_172107.3(KCNQ2):c.2000C>T (p.Ala667Val) KCNQ2 not specified Uncertain significance(Last reviewed: Nov 11, 2016) criteria provided, single submitter 20 62038616 20 63407263 373184 360475
NM_172107.3(KCNQ2):c.1998G>A (p.Pro666=) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: Jul 11, 2017) criteria provided, single submitter 20 62038618 20 63407265 461411 469440
NM_172107.3(KCNQ2):c.1956G>A (p.Pro652=) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62038660 20 63407307 369813 353971
NM_172107.3(KCNQ2):c.1956delG (p.Thr653Glnfs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62038660 20 63407307 21773 34625
NM_172107.3(KCNQ2):c.1955C>G (p.Pro652Arg) KCNQ2 not specified Uncertain significance(Last reviewed: Apr 14, 2017) criteria provided, single submitter 20 62038661 20 63407308 430045 422336
NM_172107.3(KCNQ2):c.1955C>T (p.Pro652Leu) KCNQ2 not specified Uncertain significance(Last reviewed: May 18, 2015) criteria provided, single submitter 20 62038661 20 63407308 205951 203708
NM_172107.3(KCNQ2):c.1950C>T (p.Ile650=) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: May 3, 2017) criteria provided, single submitter 20 62038666 20 63407313 461410 470483
NM_172107.3(KCNQ2):c.1937A>G (p.Gln646Arg) KCNQ2 not provided Likely pathogenic(Last reviewed: Aug 8, 2013) criteria provided, single submitter 20 62038679 20 63407326 205925 203710
NM_172107.3(KCNQ2):c.1930dupT (p.Tyr644Leufs) KCNQ2 not provided Pathogenic(Last reviewed: Jan 24, 2013) criteria provided, single submitter 20 62038686 20 63407333 205943 203711
NM_172107.3(KCNQ2):c.1930delT (p.Tyr644Thrfs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62038686 20 63407333 21772 34624
NM_172107.3(KCNQ2):c.1914C>T (p.Asp638=) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: Jun 16, 2017) criteria provided, single submitter 20 62038702 20 63407349461409 471467
NM_172107.3(KCNQ2):c.1910T>G (p.Leu637Arg) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62038706 20 63407353 21771 34623
NM_172107.3(KCNQ2):c.1909C>T (p.Leu637=) KCNQ2 not specified Likely benign(Last reviewed: Jan 19, 2016) criteria provided, single submitter 20 62038707 20 63407354 383260 378174
NM_172107.3(KCNQ2):c.1888delG (p.Val630Serfs) KCNQ2 not provided Pathogenic(Last reviewed: Dec 11, 2013) criteria provided, single submitter 20 62038728 20 63407375 205946 203712
NM_172107.3(KCNQ2):c.1888-3C>T KCNQ2 not specified|Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Jul 27, 2017) criteria provided, multiple submitters, no conflicts 20 62038731 20 63407378 283738 267975
NM_172107.3(KCNQ2):c.1887+17G>A KCNQ2 not specified Benign(Last reviewed: Jun 29, 2015) criteria provided, single submitter 20 62039749 20 63408396 378030 378176
NM_172107.3(KCNQ2):c.1887+16C>A KCNQ2 not specified Benign(Last reviewed: Apr 16, 2015) criteria provided, single submitter 20 62039750 20 63408397 379483 377137
NM_172107.3(KCNQ2):c.1887+16C>T KCNQ2 not specified Likely benign(Last reviewed: Sep 21, 2016) criteria provided, single submitter 20 62039750 20 63408397 379112 378179
NM_172107.3(KCNQ2):c.1887+5G>A KCNQ2 Benign familial neonatal seizures 1|not specified|not provided Conflicting interpretations of pathogenicity(Last reviewed: Jul 31, 2016) criteria provided, conflicting interpretations 20 62039761 20 63408408 282026 266263
NM_172107.3(KCNQ2):c.1887+1G>T KCNQ2 not provided Pathogenic(Last reviewed: Nov 17, 2014) criteria provided, single submitter 20 62039765 20 63408412 205950 203713
NM_172107.3(KCNQ2):c.1856_1886del31 (p.Met619Argfs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62039767 - 62039797 20 63408414 - 63408444 369812 353972
NM_172107.3(KCNQ2):c.1870G>C (p.Gly624Arg) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Apr 5, 2017) criteria provided, single submitter 20 62039783 20 63408430 405213 404203
NM_172107.3(KCNQ2):c.1866G>C (p.Arg622=) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: Aug 28, 2016) criteria provided, single submitter 20 62039787 20 63408434 413252 404204
NM_172107.3(KCNQ2):c.1864C>T (p.Arg622Trp) KCNQ2 not provided Likely pathogenic(Last reviewed: Mar 29, 2016) criteria provided, single submitter 20 62039789 20 63408436 420848 410816
NM_172107.3(KCNQ2):c.1842C>T (p.Pro614=) KCNQ2 not specified|not provided Conflicting interpretations of pathogenicity(Last reviewed: Oct 31, 2017) criteria provided, conflicting interpretations 20 62039811 20 63408458 167206 177787
NM_172107.3(KCNQ2):c.1833G>A (p.Ala611=) KCNQ2 not specified Benign(Last reviewed: Feb 4, 2014) criteria provided, single submitter 20 62039820 20 63408467 138029 141732
NM_172107.3(KCNQ2):c.1832C>T (p.Ala611Val) KCNQ2 not specified Likely benign(Last reviewed: Aug 27, 2015) criteria provided, single submitter 20 62039821 20 63408468 205847 203714
NM_172107.3(KCNQ2):c.1827C>T (p.Ala609=) KCNQ2 not specified|not provided|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Conflicting interpretations of pathogenicity(Last reviewed: Feb 28, 2017) criteria provided, conflicting interpretations 20 62039826 20 63408473 138028 141731
NM_172107.3(KCNQ2):c.1814C>T (p.Thr605Ile) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Jun 20, 2016) criteria provided, single submitter 20 62039839 20 63408486 405209 404199
NM_172107.3(KCNQ2):c.1814C>G (p.Thr605Ser) KCNQ2 not specified|Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Sep 15, 2016) criteria provided, multiple submitters, no conflicts 20 62039839 20 63408486 205924 203715
NM_172107.3(KCNQ2):c.1810C>T (p.Arg604Cys) KCNQ2 not specified Uncertain significance(Last reviewed: Mar 13, 2014) criteria provided, single submitter 20 62039843 20 63408490 205923 203716
NM_172107.3(KCNQ2):c.1800G>A (p.Thr600=) KCNQ2 not provided Uncertain significance(Last reviewed: Jan 2, 2014) criteria provided, single submitter 20 62039853 20 63408500 129339 134785
NM_172107.3(KCNQ2):c.1793C>T (p.Ala598Val) KCNQ2 not specified Uncertain significance(Last reviewed: Mar 27, 2014) criteria provided, single submitter 20 62039860 20 63408507 205922 203717
NM_172107.3(KCNQ2):c.1783C>T (p.Arg595Trp) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62039870 20 63408517 369811 353973
NM_172107.3(KCNQ2):c.1776C>T (p.Ile592=) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: Oct 14, 2016) criteria provided, single submitter 20 62039877 20 63408524 413250 403684
NM_172107.3(KCNQ2):c.1776C>G (p.Ile592Met) KCNQ2 Benign Rolandic epilepsy Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62039877 20 63408524 369810 353974
NM_172107.3(KCNQ2):c.1764A>T (p.Arg588Ser) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62039889 20 63408536 21770 34622
NM_172107.3(KCNQ2):c.1764-1G>C KCNQ2 not provided Pathogenic(Last reviewed: Feb 25, 2014) criteria provided, single submitter 20 62039890 20 63408537 205910 203718
NM_172107.3(KCNQ2):c.1764-2A>G KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62039891 20 63408538 21814 34666
NM_172107.3(KCNQ2):c.1764-6C>T KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: Jul 2, 2016) criteria provided, single submitter 20 62039895 20 63408542 215971 213473
NM_172107.3(KCNQ2):c.1764-6C>A KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62039895 20 63408542 21815 34667
NM_172107.3(KCNQ2):c.1763+20G>A KCNQ2 not specified Likely benign(Last reviewed: Jul 21, 2016) criteria provided, single submitter 20 62044783 20 63413430 387870 378391
NM_172107.3(KCNQ2):c.1763+17C>A KCNQ2 not specified Benign(Last reviewed: Mar 7, 2014) criteria provided, single submitter 20 62044786 20 63413433 138027 141730
NM_172107.3(KCNQ2):c.1757A>C (p.Gln586Pro) KCNQ2 not specified Uncertain significance(Last reviewed: Sep 20, 2017) criteria provided, multiple submitters, no conflicts 20 62044809 20 63413456205921 203719
NM_172107.3(KCNQ2):c.1742G>T (p.Arg581Leu) KCNQ2 not provided Likely pathogenic(Last reviewed: Aug 8, 2012) criteria provided, single submitter 20 62044824 20 63413471 205920 203720
NM_172107.3(KCNQ2):c.1742G>A (p.Arg581Gln) KCNQ2 Benign familial neonatal seizures 1|not provided|Epileptic encephalopathy Pathogenic/Likely pathogenic(Last reviewed: Nov 16, 2016) criteria provided, multiple submitters, no conflicts 20 62044824 20 63413471 21769 34621
NM_172107.3(KCNQ2):c.1741C>G (p.Arg581Gly) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Jun 27, 2016) criteria provided, single submitter 20 62044825 20 63413472 265380 260235
NM_172107.3(KCNQ2):c.1741C>T (p.Arg581Ter) KCNQ2 Benign familial neonatal seizures 1|not provided Pathogenic(Last reviewed: Mar 31, 2016) criteria provided, single submitter 20 62044825 20 63413472 21768 34620
NM_172107.2(KCNQ2):c.[1734G>A;1735C>A] KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20|20|20 62044831 - 62044832 20|20|20 63413478 - 63413479 369808 203721|390692|390693
NM_172107.3(KCNQ2):c.1734_1735delGCinsAA (p.Met578_Leu579delinsIleMet) KCNQ2 not provided Pathogenic(Last reviewed: Jul 30, 2014) criteria provided, single submitter 20 62044831 - 62044832 20 63413478 - 63413479 205942 203721
NM_172107.3(KCNQ2):c.1734G>C (p.Met578Ile) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Feb 3, 2017) criteria provided, single submitter 20 62044832 20 63413479 205919 203722
NM_172107.3(KCNQ2):c.1733T>C (p.Met578Thr) KCNQ2 not provided Likely pathogenic(Last reviewed: Sep 19, 2017) criteria provided, single submitter 20 62044833 20 63413480 452187 446282
NM_172107.3(KCNQ2):c.1732A>G (p.Met578Val) KCNQ2 Benign familial neonatal seizures 1|not provided Pathogenic/Likely pathogenic(Last reviewed: Aug 18, 2017) criteria provided, single submitter 20 62044834 20 63413481 369807 353975
NM_172107.3(KCNQ2):c.1719C>T (p.Ala573=) KCNQ2 not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Benign/Likely benign(Last reviewed: Aug 1, 2017) criteria provided, multiple submitters, no conflicts 20 62044847 20 63413494 129338 134784
NM_172107.3(KCNQ2):c.1700T>A (p.Val567Asp) KCNQ2 not provided Likely pathogenic(Last reviewed: Sep 4, 2015) criteria provided, single submitter 20 62044866 20 63413513 429666 422337
NM_172107.3(KCNQ2):c.1698C>T (p.Asp566=) KCNQ2 not specified|Early infantile epileptic encephalopathy Likely benign(Last reviewed: Oct 17, 2017) criteria provided, multiple submitters, no conflicts 20 62044868 20 63413515 379462 379745
NM_172107.3(KCNQ2):c.1689C>G (p.Asp563Glu) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62044877 20 63413524 369806 353976
NM_172107.3(KCNQ2):c.1689C>T (p.Asp563=) KCNQ2 Early infantile epileptic encephalopathy 7|not specified|not provided|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Conflicting interpretations of pathogenicity(Last reviewed: Aug 11, 2017) criteria provided, conflicting interpretations 20 62044877 20 63413524 138026 141729
NM_172107.3(KCNQ2):c.1687G>T (p.Asp563Tyr) KCNQ2 not provided Likely pathogenic(Last reviewed: Aug 3, 2015) criteria provided, single submitter 20 62044879 20 63413526 429424 422338
NM_172107.3(KCNQ2):c.1687G>A (p.Asp563Asn) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Dec 27, 2016) criteria provided, multiple submitters, no conflicts 20 62044879 20 63413526 205917 203724
NM_172107.3(KCNQ2):c.1686C>A (p.Tyr562Ter) KCNQ2 not provided Pathogenic(Last reviewed: Jun 8, 2015) criteria provided, single submitter 20 62044880 20 63413527 379891 377139
NM_172107.3(KCNQ2):c.1680_1684dupGCCCT (p.Tyr562Cysfs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62044882 - 62044886 20 63413529 - 63413533 375002 361908
NM_172107.3(KCNQ2):c.1682C>T (p.Pro561Leu) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Mar 31, 2016) criteria provided, single submitter 20 62044884 20 63413531 205916 203725
NM_172107.3(KCNQ2):c.1679G>A (p.Arg560Gln) KCNQ2 not provided Likely pathogenic(Last reviewed: Sep 14, 2015) criteria provided, single submitter 20 62044887 20 63413534 372677 360435
NM_172107.3(KCNQ2):c.1678C>T (p.Arg560Trp) KCNQ2 Early infantile epileptic encephalopathy 7|not provided|Early infantile epileptic encephalopathy Pathogenic(Last reviewed: May 31, 2017) criteria provided, multiple submitters, no conflicts 20 62044888 20 63413535 205915 203726
NM_172107.3(KCNQ2):c.1666A>G (p.Lys556Glu) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62044900 20 63413547 205914 203727
NM_172107.3(KCNQ2):c.1662G>T (p.Lys554Asn) KCNQ2 Benign familial neonatal seizures 2|Benign familial neonatal seizures 1|Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62044904 20 63413551 7388 22427
NM_172107.3(KCNQ2):c.1658G>T (p.Arg553Leu) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Nov 8, 2017) criteria provided, single submitter 20 62044908 20 63413555 369805 353977
NM_172107.3(KCNQ2):c.1658G>A (p.Arg553Gln) KCNQ2 Benign familial neonatal seizures 1|not provided Pathogenic(Last reviewed: Feb 2, 2017) criteria provided, single submitter 20 62044908 20 63413555 21767 34619
NM_172107.3(KCNQ2):c.1657C>T (p.Arg553Trp) KCNQ2 Benign familial neonatal seizures 1|Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Feb 15, 2017) criteria provided, multiple submitters, no conflicts 20 62044909 20 63413556 205913 203728
NM_172107.3(KCNQ2):c.1655A>C (p.Lys552Thr) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62044911 20 63413558 369804 353978
NM_172107.3(KCNQ2):c.1641G>A (p.Arg547=) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62044925 20 63413572 369802 353979
NM_172107.3(KCNQ2):c.1640G>A (p.Arg547Gln) KCNQ2 not provided Likely pathogenic(Last reviewed: Nov 3, 2016) criteria provided, single submitter 20 62044926 20 63413573 390674 379746
NM_172107.3(KCNQ2):c.1639C>G (p.Arg547Gly) KCNQ2 Benign familial neonatal seizures 1 Likely pathogenic(Last reviewed: Apr 12, 2016) criteria provided, single submitter 20 62044927 20 63413574 226112 227922
NM_172107.3(KCNQ2):c.1639C>T (p.Arg547Trp) KCNQ2 Benign familial neonatal seizures 1|not provided|Early infantile epileptic encephalopathy Conflicting interpretations of pathogenicity(Last reviewed: Aug 1, 2017) criteria provided, conflicting interpretations 20 62044927 20 63413574 205912 203729
NM_172107.3(KCNQ2):c.1637T>C (p.Met546Thr) KCNQ2 not provided Pathogenic(Last reviewed: Aug 16, 2016) criteria provided, single submitter 20 62044929 20 63413576 280703 265109
NM_172107.3(KCNQ2):c.1636A>G (p.Met546Val) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62044930 20 63413577 39761 48360
NM_172107.3(KCNQ2):c.1633G>A (p.Val545Ile) KCNQ2 not specified Uncertain significance(Last reviewed: Mar 31, 2014) criteria provided, single submitter 20 62044933 20 63413580 205911 203730
NM_172107.3(KCNQ2):c.1632-1G>A KCNQ2 not provided Pathogenic(Last reviewed: Jul 26, 2013) criteria provided, single submitter 20 62044935 20 63413582 205909 203731
NM_172107.3(KCNQ2):c.1632-1G>T KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62044935 20 63413582 21766 34618
NM_172107.3(KCNQ2):c.1632-18C>A KCNQ2 not specified Benign(Last reviewed: Nov 4, 2013) criteria provided, single submitter 20 62044952 20 63413599 138025 141728
NM_172107.3(KCNQ2):c.1631+19C>T KCNQ2 not specified Likely benign(Last reviewed: Aug 17, 2017) criteria provided, single submitter 20 62045422 20 63414069 378029 379747
NM_172107.3(KCNQ2):c.1631+18C>T KCNQ2 not specified Likely benign(Last reviewed: Jul 12, 2017) criteria provided, single submitter 20 62045423 20 63414070 378028 378181
NM_172107.3(KCNQ2):c.1631+5G>A KCNQ2 not provided Likely pathogenic(Last reviewed: Apr 20, 2017) criteria provided, single submitter 20 62045436 20 63414083 449951 446283
NM_172107.3(KCNQ2):c.1631+1G>A KCNQ2 Benign familial neonatal seizures 1|not provided Pathogenic(Last reviewed: Mar 31, 2016) criteria provided, single submitter 20 62045440 20 63414087 369801 353980
NM_172107.3(KCNQ2):c.1631G>A (p.Cys544Tyr) KCNQ2 not provided Likely pathogenic(Last reviewed: Nov 28, 2016) criteria provided, single submitter 20 62045441 20 63414088 373576 360583
NM_172107.3(KCNQ2):c.1627G>A (p.Val543Met) KCNQ2 not specified Uncertain significance(Last reviewed: Jan 25, 2016) criteria provided, multiple submitters, no conflicts 20 62045445 20 63414092194446 191609
NM_172107.3(KCNQ2):c.1625C>T (p.Ala542Val) KCNQ2 not specified Uncertain significance(Last reviewed: Jan 17, 2015) criteria provided, single submitter 20 62045447 20 63414094 205949 203732
NM_172107.3(KCNQ2):c.1622G>C (p.Arg541Thr) KCNQ2 Benign familial neonatal seizures 1 Likely pathogenic(Last reviewed: Dec 9, 2017) criteria provided, single submitter 20 62045450 20 63414097 488537 481405
NM_172107.3(KCNQ2):c.1621A>G (p.Arg541Gly) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62045451 20 63414098 369800 353981
NM_172107.3(KCNQ2):c.1610_1615delAAGTCA (p.Lys537_Val538del) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: May 9, 2017) criteria provided, single submitter 20 62045457 - 62045462 20 63414104 - 63414109 433180 426752
NM_172107.3(KCNQ2):c.1609A>T (p.Lys537Ter) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62045463 20 63414110 369799 353982
NM_172107.3(KCNQ2):c.1604dupG (p.Leu536Profs) KCNQ2 not provided Pathogenic(Last reviewed: Mar 15, 2016) criteria provided, single submitter 20 62045468 20 63414115 280394 264963
NM_172107.3(KCNQ2):c.1602G>A (p.Pro534=) KCNQ2 Early infantile epileptic encephalopathy 7|not specified Conflicting interpretations of pathogenicity(Last reviewed: Sep 22, 2016) criteria provided, conflicting interpretations 20 62045470 20 63414117 369798 353983
NM_172107.3(KCNQ2):c.1588G>A (p.Glu530Lys) KCNQ2 Early infantile epileptic encephalopathy 7 Likely pathogenic(Last reviewed: Jan 1, 2018) criteria provided, single submitter 20 62045484 20 63414131 495266 486771
NM_172107.3(KCNQ2):c.1569_1581delCCCCTGCGAGTTT (p.Cys523Trpfs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62045491 - 62045503 20 63414138 - 63414150 374999 361690
NM_172107.3(KCNQ2):c.1573T>A (p.Cys525Ser) KCNQ2 not specified Uncertain significance(Last reviewed: Sep 5, 2013) criteria provided, single submitter 20 62045499 20 63414146 205907 203734
NM_172107.3(KCNQ2):c.1545G>T (p.Glu515Asp) KCNQ2 not provided Uncertain significance(Last reviewed: Jun 20, 2017) criteria provided, single submitter 20 62045527 20 63414174 445484 438756
NM_172107.3(KCNQ2):c.1545G>C (p.Glu515Asp) KCNQ2 Benign familial neonatal seizures 1|not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Conflicting interpretations of pathogenicity(Last reviewed: Aug 1, 2017) criteria provided, conflicting interpretations 20 62045527 20 63414174 21764 34616
NM_172107.3(KCNQ2):c.1541G>A (p.Gly514Glu) KCNQ2 not specified Uncertain significance(Last reviewed: Aug 1, 2017) criteria provided, single submitter 20 62045531 20 63414178 450825 446284
NM_172107.3(KCNQ2):c.1540G>A (p.Gly514Arg) KCNQ2 not specified Uncertain significance(Last reviewed: Sep 24, 2014) criteria provided, single submitter 20 62045532 20 63414179 205948 203735
NM_172107.3(KCNQ2):c.1539delC (p.Gly514Glufs) KCNQ2 not provided Likely pathogenic(Last reviewed: Apr 6, 2016) criteria provided, single submitter 20 62045533 20 63414180 420760 410817
NM_172107.3(KCNQ2):c.1539C>T (p.Pro513=) KCNQ2 not specified Benign(Last reviewed: Aug 21, 2015) criteria provided, single submitter 20 62045533 20 63414180 378027 379748
NM_172107.3(KCNQ2):c.1526-3dupC KCNQ2 not specified Likely benign(Last reviewed: Dec 20, 2016) criteria provided, single submitter 20 62045549 20 63414196 421867 410818
NM_172107.3(KCNQ2):c.1525+12C>T KCNQ2 not specified Likely benign(Last reviewed: Aug 24, 2016) criteria provided, single submitter 20 62046244 20 63414891 378026 378394
NM_172107.3(KCNQ2):c.1525+1G>A KCNQ2 Benign familial neonatal seizures 1|Early infantile epileptic encephalopathy Pathogenic(Last reviewed: Jan 17, 2017) criteria provided, single submitter 20 62046255 20 63414902 21763 34615
NM_172107.3(KCNQ2):c.1512G>A (p.Arg504=) KCNQ2 not specified Likely benign(Last reviewed: Sep 8, 2016) criteria provided, single submitter 20 62046269 20 63414916 389063 378186
NM_172107.3(KCNQ2):c.1508C>G (p.Ser503Ter) KCNQ2 not provided Pathogenic(Last reviewed: Sep 28, 2015) criteria provided, single submitter 20 62046273 20 63414920 430015 422339
NM_172107.3(KCNQ2):c.1506G>A (p.Ala502=) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: Mar 12, 2016) criteria provided, single submitter 20 62046275 20 63414922242009 243588
NM_172107.3(KCNQ2):c.1505C>T (p.Ala502Val) KCNQ2 not specified Uncertain significance(Last reviewed: Oct 19, 2017) criteria provided, single submitter 20 62046276 20 63414923 205906 203736
NM_172107.3(KCNQ2):c.1503C>T (p.Ala501=) KCNQ2 not specified|Early infantile epileptic encephalopathy Conflicting interpretations of pathogenicity(Last reviewed: Jun 26, 2017) criteria provided, conflicting interpretations 20 62046278 20 63414925 194284 191447
NM_172107.3(KCNQ2):c.1503C>G (p.Ala501=) KCNQ2 Benign familial neonatal seizures 1|not specified|KCNQ2-Related Disorders Benign/Likely benign(Last reviewed: Apr 26, 2017) criteria provided, multiple submitters, no conflicts 20 62046278 20 63414925 129337 134783
NM_172107.3(KCNQ2):c.1501G>C (p.Ala501Pro) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62046280 20 63414927 369797 353984
NM_172107.3(KCNQ2):c.1477C>T (p.Arg493Cys) KCNQ2 not specified Uncertain significance(Last reviewed: Mar 20, 2017) criteria provided, single submitter 20 62046304 20 63414951 424395 410819
NM_172107.3(KCNQ2):c.1467C>T (p.Arg489=) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: Jan 25, 2017) criteria provided, single submitter 20 62046314 20 63414961461408 471471
NM_172107.3(KCNQ2):c.1458C>T (p.Phe486=) KCNQ2 not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Benign/Likely benign(Last reviewed: Jun 23, 2017) criteria provided, multiple submitters, no conflicts 20 62046323 20 63414970 138024 141727
NM_172107.3(KCNQ2):c.1418_1419delTC (p.Leu473Argfs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62046362 - 62046363 20 63415009 - 63415010 369795 353985
NM_172107.3(KCNQ2):c.1419C>T (p.Leu473=) KCNQ2 not specified|Early infantile epileptic encephalopathy Benign/Likely benign(Last reviewed: Apr 6, 2017) criteria provided, multiple submitters, no conflicts 20 62046362 20 63415009 138023 141726
NM_172107.3(KCNQ2):c.1407C>T (p.Ala469=) KCNQ2 Early infantile epileptic encephalopathy Benign(Last reviewed: Aug 3, 2016) criteria provided, single submitter 20 62046374 20 63415021 413255 403691
NM_172107.3(KCNQ2):c.1405G>A (p.Ala469Thr) KCNQ2 not specified Uncertain significance(Last reviewed: Jul 16, 2015) criteria provided, single submitter 20 62046376 20 63415023 205905 203737
NM_172107.3(KCNQ2):c.1388_1389delTG (p.Val463Glufs) KCNQ2 Early infantile epileptic encephalopathy Pathogenic(Last reviewed: Feb 1, 2016) criteria provided, single submitter 20 62046392 - 62046393 20 63415039 - 63415040 242008 243589
NM_172107.3(KCNQ2):c.1382A>C (p.Gln461Pro) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62046399 20 63415046 369794 353986
NM_172107.3(KCNQ2):c.1357_1373del17 (p.Lys453Alafs) KCNQ2 not provided Pathogenic(Last reviewed: Oct 25, 2017) criteria provided, single submitter 20 62046408 - 62046424 20 63415055 - 63415071 453053 446285
NM_172107.3(KCNQ2):c.1348G>A (p.Val450Met) KCNQ2 not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Conflicting interpretations of pathogenicity(Last reviewed: Jul 13, 2017) criteria provided, conflicting interpretations 20 62046433 20 63415080 129332 134778
NM_172107.3(KCNQ2):c.1347C>T (p.Gly449=) KCNQ2 not specified Uncertain significance(Last reviewed: Jun 26, 2017) criteria provided, single submitter 20 62046434 20 63415081 432512 426351
NM_172107.3(KCNQ2):c.1342C>T (p.Arg448Ter) KCNQ2 Benign familial neonatal seizures 1|not provided|Early infantile epileptic encephalopathy Pathogenic(Last reviewed: Jul 19, 2017) criteria provided, multiple submitters, no conflicts 20 62046439 20 63415086 21762 34614
NM_172107.3(KCNQ2):c.1329C>G (p.Val443=) KCNQ2 not specified Likely benign(Last reviewed: Mar 29, 2016) criteria provided, single submitter 20 62046452 20 63415099 385294 378398
NM_172107.3(KCNQ2):c.1324C>T (p.Arg442Cys) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Jun 30, 2017) criteria provided, single submitter 20 62046457 2063415104 461407 470485
NM_172107.3(KCNQ2):c.1302-1G>C KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62046480 20 63415127 21812 34664
NM_172107.3(KCNQ2):c.1302-11C>T KCNQ2 not specified Benign(Last reviewed: Sep 27, 2013) criteria provided, single submitter 20 62046490 20 63415137 138022 141725
NM_172107.3(KCNQ2):c.1302-11C>G KCNQ2 not specified Benign(Last reviewed: Jan 27, 2014) criteria provided, single submitter 20 62046490 20 63415137 138021 141724
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTTTC KCNQ2 not specified Benign(Last reviewed: Jan 29, 2014) criteria provided, single submitter 20 62046496 - 62046497 20 63415143 - 63415144 205846 203739
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTGTT KCNQ2 not specified Benign(Last reviewed: Oct 24, 2013) criteria provided, single submitter 20 62046496 - 62046497 20 63415143 - 63415144 205845 203738
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTGCC KCNQ2 not specified Benign(Last reviewed: Nov 26, 2013) criteria provided, single submitter 20 62046496 - 62046497 20 63415143 - 63415144 205844 203744
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTGAC KCNQ2 not specified Benign(Last reviewed: Feb 3, 2014) criteria provided, single submitter 20 62046496 - 62046497 20 63415143 - 63415144 205843 203745
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTCTC KCNQ2 not specified Benign(Last reviewed: Feb 14, 2014) criteria provided, single submitter 20 62046496 - 62046497 20 63415143 - 63415144 205842 203743
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCCGTC KCNQ2 not specified Benign(Last reviewed: Oct 23, 2013) criteria provided, single submitter 20 62046496 - 62046497 20 63415143 - 63415144 205841 203742
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGCCTGTC KCNQ2 not specified Benign(Last reviewed: Oct 2, 2013) criteria provided, single submitter 20 62046496 - 62046497 20 63415143 - 63415144 205840 203741
NM_172107.3(KCNQ2):c.1302-18_1302-17insCGTCTGTC KCNQ2 not specified Benign(Last reviewed: Oct 16, 2013) criteria provided, single submitter 20 62046496 - 62046497 20 63415143 - 63415144 205839 203740
NM_172107.3(KCNQ2):c.1302-20_1302-19insTCTGTCTG KCNQ2 not specified Benign(Last reviewed: Oct 8, 2013) criteria provided, single submitter 20 62046498 - 62046499 20 63415145 - 63415146 205838 203746
NM_172107.3(KCNQ2):c.1302-20_1302-19insCCTGTCTG KCNQ2 not specified Benign(Last reviewed: Oct 22, 2013) criteria provided, single submitter 20 62046498 - 62046499 20 63415145 - 63415146 205837 203747
NM_172107.3(KCNQ2):c.1301+8G>T KCNQ2 not specified|Early infantile epileptic encephalopathy Conflicting interpretations of pathogenicity(Last reviewed: Jul 19, 2017) criteria provided, conflicting interpretations 20 62050964 20 63419611 194135 191298
NM_172107.3(KCNQ2):c.1301+7C>T KCNQ2 not specified|Early infantile epileptic encephalopathy Conflicting interpretations of pathogenicity(Last reviewed: Jan 20, 2017) criteria provided, conflicting interpretations 20 62050965 20 63419612 138020 141723
NM_172107.3(KCNQ2):c.1301+5C>T KCNQ2 not specified|Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Nov 26, 2016) criteria provided, multiple submitters, no conflicts 20 62050967 20 63419614 205904 203748
NM_172107.3(KCNQ2):c.1295G>A (p.Arg432His) KCNQ2 not specified Uncertain significance(Last reviewed: Mar 21, 2017) criteria provided, single submitter 20 62050978 20 63419625 424483 410820
NM_172107.3(KCNQ2):c.1288C>T (p.Pro430Ser) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62050985 20 63419632 21761 34613
NM_172107.3(KCNQ2):c.1281A>G (p.Gly427=) KCNQ2 KCNQ2-Related Disorders Uncertain significance(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62050992 20 63419639 339332 336280
NM_172107.3(KCNQ2):c.1270C>T (p.Pro424Ser) KCNQ2 not specified|Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Jul 28, 2017) criteria provided, multiple submitters, no conflicts 20 62051003 20 63419650 405210 404201
NM_172107.3(KCNQ2):c.1259C>T (p.Pro420Leu) KCNQ2 Early infantile epileptic encephalopathy 7|not specified Conflicting interpretations of pathogenicity(Last reviewed: May 13, 2016) criteria provided, conflicting interpretations 20 62051014 20 63419661 287222 271459
NM_172107.3(KCNQ2):c.1259C>G (p.Pro420Arg) KCNQ2 not specified Uncertain significance(Last reviewed: Jul 23, 2014) criteria provided, single submitter 20 62051014 20 63419661 205903 203749
NM_172107.3(KCNQ2):c.1253G>T (p.Gly418Val) KCNQ2 not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Likely benign(Last reviewed: Apr 27, 2017) criteria provided, multiple submitters, no conflicts 20 62051020 20 63419667 205902 203750
NM_172107.3(KCNQ2):c.1247+9C>T KCNQ2 not specified Likely benign(Last reviewed: Aug 25, 2016) criteria provided, single submitter 20 62055521 20 63424168 388950 377142
NM_172107.3(KCNQ2):c.1247+1G>A KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62055529 20 63424176 369791 353987
NM_172107.3(KCNQ2):c.1241C>G (p.Ser414Cys) KCNQ2 not specified Uncertain significance(Last reviewed: Jul 28, 2017) criteria provided, single submitter 20 62055536 20 63424183 449179 446286
NM_172107.3(KCNQ2):c.1239G>A (p.Pro413=) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: Oct 30, 2016) criteria provided, single submitter 20 62055538 20 63424185413251 403696
NM_172107.3(KCNQ2):c.1238C>G (p.Pro413Arg) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: May 31, 2017) criteria provided, single submitter 20 62055539 20 63424186 461405 470986
NM_172107.3(KCNQ2):c.1231_1233delCCG (p.Pro411del) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62055544 - 62055546 20 63424191 - 63424193 369790 354038
NM_172107.3(KCNQ2):c.1233G>A (p.Pro411=) KCNQ2 not specified|Early infantile epileptic encephalopathy Likely benign(Last reviewed: Sep 20, 2016) criteria provided, multiple submitters, no conflicts 20 62055544 20 63424191 242007 243590
NM_172107.3(KCNQ2):c.1232C>T (p.Pro411Leu) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: Jul 3, 2017) criteria provided, single submitter 20 62055545 20 63424192461404 469445
NM_172107.3(KCNQ2):c.1229C>T (p.Pro410Leu) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Jul 25, 2017) criteria provided, single submitter 20 62055548 20 63424195 461403 470987
NM_172107.3(KCNQ2):c.1229dup (p.Pro411Alafs) KCNQ2 not provided Pathogenic(Last reviewed: Dec 23, 2016) criteria provided, single submitter 20 62055548 20 63424195 422786 410821
NM_172107.3(KCNQ2):c.1229delC (p.Pro410Argfs) KCNQ2 not provided Pathogenic(Last reviewed: Oct 11, 2016) criteria provided, single submitter 20 62055548 20 63424195 280043 264761
NM_172107.3(KCNQ2):c.1224C>T (p.Asp408=) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: Jun 13, 2016) criteria provided, single submitter 20 62055553 20 63424200413254 403689
NM_172107.3(KCNQ2):c.1218-18T>G KCNQ2 not specified Uncertain significance(Last reviewed: Nov 2, 2017) criteria provided, single submitter 20 62055577 20 63424224 449281 446287
NM_172107.3(KCNQ2):c.1217+2T>G KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62059718 20 63428365 21760 34612
NM_172107.3(KCNQ2):c.1216A>G (p.Arg406Gly) KCNQ2 not specified Uncertain significance(Last reviewed: Oct 19, 2017) criteria provided, single submitter 20 62059721 20 63428368 452880 446288
NM_172107.3(KCNQ2):c.1211C>A (p.Ala404Asp) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Oct 25, 2016) criteria provided, single submitter 20 62059726 2063428373 405207 403693
NM_172107.3(KCNQ2):c.1209C>G (p.Leu403=) KCNQ2 not specified Likely benign(Last reviewed: Jul 18, 2017) criteria provided, single submitter 20 62059728 20 63428375 385129 379749
NM_172107.3(KCNQ2):c.1209C>T (p.Leu403=) KCNQ2 not specified Uncertain significance(Last reviewed: Aug 21, 2015) criteria provided, single submitter 20 62059728 20 63428375 282749 266986
NM_172107.3(KCNQ2):c.1204G>T (p.Gly402Ter) KCNQ2 not provided Pathogenic(Last reviewed: Jul 29, 2015) criteria provided, single submitter 20 62059733 20 63428380 419629 410822
NM_172107.3(KCNQ2):c.1203T>C (p.Ser401=) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62059734 20 63428381 369789 353988
NM_172107.3(KCNQ2):c.1198A>G (p.Lys400Glu) KCNQ2 not specified Uncertain significance(Last reviewed: Nov 11, 2016) criteria provided, single submitter 20 62059739 20 63428386 205901 203751
NM_172107.3(KCNQ2):c.1197delT (p.Ser399Argfs) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 28, 2013) criteria provided, single submitter 20 62059740 20 63428387 129331 134777
NM_172107.3(KCNQ2):c.1195_1196delAG (p.Ser399Terfs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62059741 - 62059742 20 63428388 - 63428389 369788 353989
NM_172107.3(KCNQ2):c.1192_1193delAA (p.Lys398Glufs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62059744 - 62059745 20 63428391 - 63428392 21759 34611
NM_172107.3(KCNQ2):c.1185G>A (p.Arg395=) KCNQ2 not specified|Early infantile epileptic encephalopathy Benign(Last reviewed: Aug 28, 2016) criteria provided, multiple submitters, no conflicts 20 62059752 20 63428399 129330 134776
NM_172107.3(KCNQ2):c.1172T>C (p.Leu391Pro) KCNQ2 not specified Uncertain significance(Last reviewed: Mar 8, 2012) criteria provided, single submitter 20 62059765 20 63428412 205900 203752
NM_172107.3(KCNQ2):c.1161G>A (p.Pro387=) KCNQ2 not specified Benign(Last reviewed: Dec 16, 2014) criteria provided, single submitter 20 62059776 20 63428423 205836 203753
NM_172107.3(KCNQ2):c.1160delC (p.Pro387Argfs) KCNQ2 not provided|Early infantile epileptic encephalopathy Pathogenic(Last reviewed: Jan 29, 2016) criteria provided, multiple submitters, no conflicts 20 62059777 20 63428424 205929 203754
NM_172107.3(KCNQ2):c.1154T>A (p.Ile385Asn) KCNQ2 not provided Uncertain significance(Last reviewed: Aug 31, 2016) no assertion criteria provided 20 62059783 20 63428430 374487 361373
NM_172107.3(KCNQ2):c.1149-20C>T KCNQ2 not specified Benign(Last reviewed: Sep 29, 2014) criteria provided, single submitter 20 62059808 20 63428455 205835 203755
NM_172107.3(KCNQ2):c.1148+2T>G KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62062691 20 63431338 21816 34668
NM_172107.3(KCNQ2):c.1137C>T (p.Tyr379=) KCNQ2 not specified Likely benign(Last reviewed: Feb 9, 2016) criteria provided, single submitter 20 62062704 20 63431351 383355 378399
NM_172107.3(KCNQ2):c.1136A>T (p.Tyr379Phe) KCNQ2 not specified Uncertain significance(Last reviewed: May 26, 2017) criteria provided, single submitter 20 62062705 20 63431352 430416 422340
NM_172107.3(KCNQ2):c.1126delA (p.Thr376Leufs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62062715 20 63431362 369786 353990
NM_172107.3(KCNQ2):c.1119-8C>G KCNQ2 not specified Likely benign(Last reviewed: Oct 6, 2016) criteria provided, single submitter 20 62062730 20 63431377 389838 378204
NM_172107.3(KCNQ2):c.1118+69C>T KCNQ2 not specified Benign(Last reviewed: May 12, 2015) criteria provided, single submitter 20 62065093 20 63433740 378025 378403
NM_172107.3(KCNQ2):c.1118+69C>A KCNQ2 not specified Benign(Last reviewed: Jan 2, 2013) criteria provided, single submitter 20 62065093 20 63433740 138019 141722
NM_172107.3(KCNQ2):c.1118+53A>G KCNQ2 not specified Likely benign(Last reviewed: Dec 27, 2012) criteria provided, single submitter 20 62065109 20 63433756 205834 203756
NM_172107.3(KCNQ2):c.1118+3A>G KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62065159 20 63433806 369785 353991
NM_172109.2(KCNQ2):c.1120T>C (p.Tyr374His) KCNQ2 Benign familial neonatal seizures 1|Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Sep 15, 2015) criteria provided, single submitter 20 62065160 20 63433807 283350 267587
NM_172107.3(KCNQ2):c.1118+1G>A KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62065161 20 63433808 21758 34610
NM_172107.3(KCNQ2):c.1109C>G (p.Pro370Arg) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Mar 10, 2017) criteria provided, single submitter 20 62065171 2063433818 405211 403698
NM_172107.3(KCNQ2):c.1098G>A (p.Thr366=) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: Jul 2, 2017) criteria provided, single submitter 20 62065182 20 63433829 461402 470487
NM_172107.3(KCNQ2):c.1093C>T (p.Arg365Ter) KCNQ2 not provided Pathogenic(Last reviewed: May 2, 2017) criteria provided, single submitter 20 62065187 20 63433834 426132 415696
NM_172107.3(KCNQ2):c.1088A>G (p.Tyr363Cys) KCNQ2 not specified Uncertain significance(Last reviewed: Nov 5, 2014) criteria provided, single submitter 20 62065192 20 63433839 198922 196082
NM_172107.3(KCNQ2):c.1085A>G (p.Tyr362Cys) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62065195 20 63433842 369784 353992
NM_172107.3(KCNQ2):c.1076C>A (p.Thr359Lys) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62065204 20 63433851 21757 34609
NM_172107.3(KCNQ2):c.1075A>G (p.Thr359Ala) KCNQ2 not provided Likely pathogenic(Last reviewed: Aug 25, 2016) criteria provided, single submitter 20 62065205 20 63433852 418633 410823
NM_172107.3(KCNQ2):c.1073C>T (p.Ser358Phe) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62065207 20 63433854 369783 353993
NM_172107.3(KCNQ2):c.1067T>C (p.Leu356Pro) KCNQ2 not provided Likely pathogenic(Last reviewed: Aug 26, 2016) criteria provided, single submitter 20 62065213 20 63433860 422045 410824
NM_172107.3(KCNQ2):c.1067T>G (p.Leu356Arg) KCNQ2 Intellectual disability Likely pathogenic(Last reviewed: Mar 9, 2016) no assertion criteria provided 20 62065213 20 63433860 373925 361066
NM_172107.3(KCNQ2):c.1066C>G (p.Leu356Val) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62065214 20 63433861 369782 353994
NM_172107.3(KCNQ2):c.1065C>G (p.Asp355Glu) KCNQ2 not provided Uncertain significance(Last reviewed: Mar 30, 2017) criteria provided, single submitter 20 62065215 20 63433862 445403 438675
NM_172107.3(KCNQ2):c.1065C>T (p.Asp355=) KCNQ2 not specified|KCNQ2-Related Disorders Benign/Likely benign(Last reviewed: Jun 14, 2016) criteria provided, multiple submitters, no conflicts 20 62065215 20 63433862 205833 203758
NM_172107.3(KCNQ2):c.1058G>A (p.Arg353His) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic/Likely pathogenic(Last reviewed: Aug 25, 2016) criteria provided, single submitter 20 62065222 20 63433869 205899 203759
NM_172107.3(KCNQ2):c.1057C>T (p.Arg353Cys) KCNQ2 not specified|not provided Conflicting interpretations of pathogenicity(Last reviewed: Sep 29, 2016) criteria provided, conflicting interpretations 20 62065223 20 63433870 205898 203760
NM_172107.3(KCNQ2):c.1057C>G (p.Arg353Gly) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62065223 20 63433870 21756 34608
NM_172107.3(KCNQ2):c.1054T>C (p.Ser352Pro) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62065226 20 63433873 369781 353995
NM_172107.3(KCNQ2):c.1053C>T (p.Leu351=) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62065227 20 63433874 369780 353996
NM_172107.3(KCNQ2):c.1051C>T (p.Leu351Phe) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62065229 20 63433876 369779 353997
NM_172107.3(KCNQ2):c.1051C>G (p.Leu351Val) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62065229 20 63433876 369778 353998
NM_172107.3(KCNQ2):c.1049A>T (p.Asn350Ile) KCNQ2 not provided Likely pathogenic(Last reviewed: Mar 5, 2014) criteria provided, single submitter 20 62065231 20 63433878 205897 203761
NM_172107.3(KCNQ2):c.1030T>C (p.Trp344Arg) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62065250 20 63433897 369777 353999
NM_172107.3(KCNQ2):c.1024-2A>G KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62065258 20 63433905 369776 354000
NM_172107.3(KCNQ2):c.1024-6C>G KCNQ2 not specified Likely benign(Last reviewed: Jan 8, 2015) criteria provided, single submitter 20 62065262 20 63433909 205832 203762
NM_172107.3(KCNQ2):c.1023+19C>T KCNQ2 not specified Likely benign(Last reviewed: May 4, 2017) criteria provided, single submitter 20 62069959 20 63438606 389062 378207
NM_172107.3(KCNQ2):c.1023+17C>G KCNQ2 not specified Likely benign(Last reviewed: Jul 21, 2016) criteria provided, single submitter 20 62069961 20 63438608 387571 377143
NM_172107.3(KCNQ2):c.1023+9A>G KCNQ2 not specified Benign(Last reviewed: Feb 24, 2014) criteria provided, single submitter 20 62069969 20 63438616 138018 141721
NM_172107.3(KCNQ2):c.1020C>G (p.Ile340Met) KCNQ2 not provided Likely pathogenic(Last reviewed: Jul 17, 2014) criteria provided, single submitter 20 62069981 20 63438628 205896 203763
NM_172107.3(KCNQ2):c.1016T>A (p.Leu339Gln) KCNQ2 Early infantile epileptic encephalopathy 7 Likely pathogenic(Last reviewed: Jan 1, 2018) criteria provided, single submitter 20 62069985 20 63438632 495272 486772
NM_172107.3(KCNQ2):c.1016T>G (p.Leu339Arg) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62069985 20 63438632 21755 34607
NM_172107.3(KCNQ2):c.1010C>G (p.Ala337Gly) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Mar 31, 2016) criteria provided, single submitter 20 62069991 20 63438638 205894 203764
NM_172107.3(KCNQ2):c.1009G>A (p.Ala337Thr) KCNQ2 not provided Pathogenic(Last reviewed: Aug 30, 2012) criteria provided, single submitter 20 62069992 20 63438639 205893 203765
NM_172107.3(KCNQ2):c.1004C>T (p.Pro335Leu) KCNQ2 not provided Pathogenic(Last reviewed: Mar 31, 2017) criteria provided, single submitter 20 62069997 20 63438644 205892 203766
NM_172107.3(KCNQ2):c.998G>A (p.Arg333Gln) KCNQ2 Benign familial neonatal seizures 1|not provided Pathogenic/Likely pathogenic(Last reviewed: Mar 31, 2016) criteria provided, single submitter 20 62070003 20 63438650 21810 34662
NM_172107.3(KCNQ2):c.997C>T (p.Arg333Trp) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Jun 3, 2016) criteria provided, single submitter 20 62070004 20 63438651 21809 34661
NM_172107.3(KCNQ2):c.995G>A (p.Arg332Lys) KCNQ2 not specified Uncertain significance(Last reviewed: Oct 31, 2012) criteria provided, single submitter 20 62070006 20 63438653 205891 203767
NM_172107.3(KCNQ2):c.994A>G (p.Arg332Gly) KCNQ2 Early infantile epileptic encephalopathy Likely pathogenic(Last reviewed: Apr 23, 2017) criteria provided, single submitter 20 62070007 20 63438654 461424 470488
NM_172107.3(KCNQ2):c.992delA (p.Lys331Argfs) KCNQ2 not provided Pathogenic(Last reviewed: Sep 26, 2016) criteria provided, single submitter 20 62070009 20 63438656 280885 264884
NM_172107.3(KCNQ2):c.986T>C (p.Phe329Ser) KCNQ2 not provided Likely pathogenic(Last reviewed: Feb 16, 2017) criteria provided, single submitter 20 62070015 20 63438662 423623 410825
NM_172107.3(KCNQ2):c.981_985delGCACTinsCCCGGCAGCAGG (p.Lys327Asnfs) KCNQ2 not provided Pathogenic(Last reviewed: Oct 26, 2017) criteria provided, single submitter 20 62070016 - 62070020 20 63438663 - 63438667 453040 446289
NM_172107.3(KCNQ2):c.982C>A (p.His328Asn) KCNQ2 not provided Likely pathogenic(Last reviewed: Nov 1, 2015) criteria provided, single submitter 20 62070019 20 63438666 431951 426352
NM_172107.3(KCNQ2):c.973A>G (p.Arg325Gly) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62070028 20 63438675 369775 354001
NM_172107.3(KCNQ2):c.973A>C (p.Arg325=) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62070028 20 63438675 369774 354002
NM_172107.3(KCNQ2):c.967C>T (p.Gln323Ter) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62070034 20 63438681 21808 34660
NM_172107.3(KCNQ2):c.956A>G (p.Lys319Arg) KCNQ2 not provided Likely pathogenic(Last reviewed: Feb 7, 2017) criteria provided, single submitter 20 62070045 20 63438692 393264 377145
NM_172107.3(KCNQ2):c.943G>C (p.Gly315Arg) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) criteria provided, single submitter 20 62070058 20 63438705 219237 217257
NM_172107.3(KCNQ2):c.940T>C (p.Ser314Pro) KCNQ2 not provided Likely pathogenic(Last reviewed: May 25, 2016) criteria provided, single submitter 20 62070061 20 63438708 421323 410826
NM_172107.3(KCNQ2):c.939dup (p.Ser314Valfs) KCNQ2 Benign familial neonatal seizures 2 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62070062 20 63438709 21807 34659
NM_172107.3(KCNQ2):c.937G>T (p.Gly313Trp) KCNQ2 not specified Uncertain significance(Last reviewed: Nov 4, 2013) criteria provided, single submitter 20 62070064 20 63438711 205890 203768
NM_172107.3(KCNQ2):c.935T>C (p.Leu312Ser) KCNQ2 not provided Likely pathogenic(Last reviewed: Dec 15, 2016) criteria provided, single submitter 20 62070066 20 63438713 373802 360476
NM_172107.3(KCNQ2):c.932T>A (p.Ile311Asn) KCNQ2 not provided Likely pathogenic(Last reviewed: May 5, 2017) criteria provided, single submitter 20 62070069 20 63438716 429385 422341
NM_172107.3(KCNQ2):c.928-1G>C KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62070074 20 63438721 369773 354003
NM_172107.3(KCNQ2):c.927+1G>A KCNQ2 not provided Pathogenic(Last reviewed: Dec 7, 2017) criteria provided, single submitter 20 62070950 20 63439597 489239 482213
NM_172107.3(KCNQ2):c.926C>T (p.Ala309Val) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62070952 20 63439599 369772 354004
NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val) KCNQ2 Early infantile epileptic encephalopathy 7|Early infantile epileptic encephalopathy Pathogenic/Likely pathogenic(Last reviewed: May 16, 2017) criteria provided, multiple submitters, no conflicts 20 62070961 20 63439608 219235 217258
NM_172107.3(KCNQ2):c.916G>C (p.Ala306Pro) KCNQ2 not provided Pathogenic(Last reviewed: Nov 19, 2013) criteria provided, single submitter 20 62070962 20 63439609 205888 203770
NM_172107.3(KCNQ2):c.916G>A (p.Ala306Thr) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62070962 20 63439609 7382 22421
NM_172107.3(KCNQ2):c.915C>G (p.Phe305Leu) KCNQ2 Early infantile epileptic encephalopathy Likely pathogenic(Last reviewed: Jun 14, 2017) criteria provided, single submitter 20 62070963 20 63439610 461423 470995
NM_172107.3(KCNQ2):c.913_915delTTC (p.Phe305del) KCNQ2 Benign Rolandic epilepsy|Early infantile epileptic encephalopathy 7|Seizures|not provided Pathogenic(Last reviewed: Oct 28, 2016) criteria provided, multiple submitters, no conflicts 20 62070963 - 62070965 20 63439610 - 63439612 211236 208704
NM_172107.3(KCNQ2):c.915C>A (p.Phe305Leu) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Mar 31, 2016) criteria provided, single submitter 20 62070963 20 63439610 205887 203771
NM_172107.3(KCNQ2):c.912C>T (p.Phe304=) KCNQ2 not specified|KCNQ2-Related Disorders Benign(Last reviewed: Jun 14, 2016) criteria provided, multiple submitters, no conflicts 20 62070966 20 63439613 129345 134791
NM_172107.3(KCNQ2):c.911T>C (p.Phe304Ser) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62070967 20 63439614 369771 354005
NM_172107.3(KCNQ2):c.902G>A (p.Gly301Asp) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Aug 1, 2017) criteria provided, single submitter 20 62070976 20 63439623431095 424618
NM_172107.3(KCNQ2):c.902G>T (p.Gly301Val) KCNQ2 not provided Likely pathogenic(Last reviewed: Aug 31, 2015) criteria provided, single submitter 20 62070976 20 63439623 430386 422342
NM_172107.3(KCNQ2):c.901G>A (p.Gly301Ser) KCNQ2 Early infantile epileptic encephalopathy 7|Epileptic encephalopathy Pathogenic(Last reviewed: Nov 16, 2016) criteria provided, single submitter 20 62070977 20 63439624 369770 354006
NM_172107.3(KCNQ2):c.900C>T (p.Ile300=) KCNQ2 KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Conflicting interpretations of pathogenicity(Last reviewed: Apr 19, 2017) criteria provided, conflicting interpretations 20 62070978 20 63439625 339333 346012
NM_172107.3(KCNQ2):c.888C>T (p.Thr296=) KCNQ2 not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Benign/Likely benign(Last reviewed: Jun 13, 2017) criteria provided, multiple submitters, no conflicts 20 62070990 20 63439637 138017 141720
NM_172107.3(KCNQ2):c.886A>C (p.Thr296Pro) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62070992 20 63439639 369769 354007
NM_172107.3(KCNQ2):c.881C>T (p.Ala294Val) KCNQ2 Early infantile epileptic encephalopathy 7|not provided|Epileptic encephalopathy|Early infantile epileptic encephalopathy Pathogenic(Last reviewed: May 26, 2017) criteria provided, multiple submitters, no conflicts 20 62070997 20 63439644 205886 203772
NM_172107.3(KCNQ2):c.881C>G (p.Ala294Gly) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62070997 20 63439644 21805 34657
NM_172107.3(KCNQ2):c.875_876delTCinsCCT (p.Leu292Profs) KCNQ2 not provided Likely pathogenic(Last reviewed: Dec 22, 2014) criteria provided, single submitter 20 62071002 - 62071003 20 63439649 - 63439650 205941 203773
NM_172107.3(KCNQ2):c.875T>C (p.Leu292Pro) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Dec 20, 2016) criteria provided, single submitter 20 62071003 20 63439650 405208 404202
NM_172107.3(KCNQ2):c.873G>T (p.Arg291Ser) KCNQ2 Epileptic encephalopathy Likely pathogenic(Last reviewed: Nov 16, 2016) criteria provided, single submitter 20 62071005 20 63439652 375517 362348
NM_172107.3(KCNQ2):c.869G>A (p.Gly290Asp) KCNQ2 Benign familial neonatal seizures 1|Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Jun 13, 2017) criteria provided, single submitter 20 62071009 20 63439656 39762 48361
NM_172107.3(KCNQ2):c.868G>A (p.Gly290Ser) KCNQ2 Early infantile epileptic encephalopathy 7|not provided|Early infantile epileptic encephalopathy Pathogenic(Last reviewed: Nov 10, 2017) criteria provided, multiple submitters, no conflicts 20 62071010 20 63439657 369768 354008
NM_172107.3(KCNQ2):c.861C>G (p.Thr287=) KCNQ2 not specified Likely benign(Last reviewed: Nov 22, 2016) criteria provided, single submitter 20 62071017 20 63439664 378024 379750
NM_172107.3(KCNQ2):c.860C>A (p.Thr287Asn) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62071018 20 63439665 369767 354009
NM_172107.3(KCNQ2):c.860C>T (p.Thr287Ile) KCNQ2 not specified Uncertain significance(Last reviewed: Apr 7, 2014) criteria provided, single submitter 20 62071018 20 63439665 167207 177168
NM_172107.3(KCNQ2):c.854C>A (p.Pro285His) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62071024 20 63439671 369766 354010
NM_172107.3(KCNQ2):c.851A>G (p.Tyr284Cys) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62071027 20 63439674 7381 22420
NM_172107.3(KCNQ2):c.850T>G (p.Tyr284Asp) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic criteria provided, single submitter 20 62071028 20 63439675 219234 217259
NM_172107.3(KCNQ2):c.848A>G (p.Lys283Arg) KCNQ2 not provided Pathogenic(Last reviewed: Jul 17, 2014) criteria provided, single submitter 20 62071030 20 63439677 205885 203774
NM_172107.3(KCNQ2):c.847_848insGT (p.Lys283Serfs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62071030 - 62071031 20 63439677 - 63439678 21804 34656
NM_172107.3(KCNQ2):c.844G>C (p.Asp282His) KCNQ2 not provided Likely pathogenic(Last reviewed: Sep 8, 2017) criteria provided, single submitter 20 62071034 20 63439681 430396 422343
NM_172107.3(KCNQ2):c.844G>A (p.Asp282Asn) KCNQ2 not provided Pathogenic(Last reviewed: Jun 16, 2015) criteria provided, single submitter 20 62071034 20 63439681 205884 203775
NM_172107.3(KCNQ2):c.842G>A (p.Gly281Glu) KCNQ2 not provided Likely pathogenic(Last reviewed: Aug 11, 2016) criteria provided, single submitter 20 62071036 20 63439683 421991 410827
NM_172107.3(KCNQ2):c.841G>C (p.Gly281Arg) KCNQ2 Early infantile epileptic encephalopathy 7 Likely pathogenic(Last reviewed: Nov 8, 2017) criteria provided, single submitter 20 62071037 20 63439684 488538 481406
NM_172107.3(KCNQ2):c.841G>T (p.Gly281Trp) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Oct 3, 2017) criteria provided, multiple submitters, no conflicts 20 62071037 20 63439684 216949 213659
NM_172107.3(KCNQ2):c.841G>A (p.Gly281Arg) KCNQ2 Early infantile epileptic encephalopathy 7|not specified|not provided Conflicting interpretations of pathogenicity(Last reviewed: Mar 31, 2016) criteria provided, conflicting interpretations 20 62071037 20 63439684 198284 195445
NM_172107.3(KCNQ2):c.840C>T (p.Tyr280=) KCNQ2 not specified|Early infantile epileptic encephalopathy Likely benign(Last reviewed: Aug 28, 2017) criteria provided, multiple submitters, no conflicts 20 62071038 20 63439685 378023 378209
NM_172107.3(KCNQ2):c.835G>T (p.Gly279Cys) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62071043 20 63439690 369765 354011
NM_172107.3(KCNQ2):c.833T>C (p.Ile278Thr) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Likely pathogenic(Last reviewed: Jan 1, 2018) criteria provided, single submitter 20 62071045 20 63439692 429212 422344
NM_172107.3(KCNQ2):c.833T>A (p.Ile278Asn) KCNQ2 not provided Likely pathogenic(Last reviewed: Oct 20, 2016) criteria provided, single submitter 20 62071045 20 63439692 390326 379751
NM_172107.3(KCNQ2):c.829A>T (p.Thr277Ser) KCNQ2 Early infantile epileptic encephalopathy 7 Likely pathogenic(Last reviewed: Jan 1, 2018) criteria provided, single submitter 20 62071049 20 63439696 495250 486773
NM_172107.3(KCNQ2):c.827C>T (p.Thr276Ile) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Jun 23, 2017) criteria provided, single submitter 20 62071051 20 63439698 369764 354012
NM_172107.3(KCNQ2):c.821C>T (p.Thr274Met) KCNQ2 Early infantile epileptic encephalopathy 7|not specified|not provided Conflicting interpretations of pathogenicity(Last reviewed: Oct 20, 2016) criteria provided, conflicting interpretations 20 62071057 20 63439704 167208 177432
NM_172107.3(KCNQ2):c.819C>G (p.Ile273Met) KCNQ2 not provided Likely pathogenic(Last reviewed: Oct 20, 2016) criteria provided, single submitter 20 62071059 20 63439706 422481 410828
NM_172107.3(KCNQ2):c.818T>A (p.Ile273Asn) KCNQ2 not provided Likely pathogenic(Last reviewed: Jun 17, 2013) criteria provided, single submitter 20 62071060 20 63439707 205883 203776
NM_172107.3(KCNQ2):c.817-5C>T KCNQ2 not specified Likely benign(Last reviewed: Oct 27, 2015) criteria provided, single submitter 20 62071066 20 63439713 381339 378210
NM_172107.3(KCNQ2):c.817-11C>T KCNQ2 not specified Likely benign(Last reviewed: Dec 9, 2015) criteria provided, single submitter 20 62071072 20 63439719 382194 378404
NM_172107.3(KCNQ2):c.816+9T>C KCNQ2 not specified|KCNQ2-Related Disorders Conflicting interpretations of pathogenicity(Last reviewed: Jun 14, 2016) criteria provided, conflicting interpretations 20 62073750 20 63442397 339334 351409
NM_172107.3(KCNQ2):c.816+1G>A KCNQ2 not provided Likely pathogenic(Last reviewed: Aug 31, 2016) no assertion criteria provided 20 62073758 20 63442405 374488 361374
NM_172107.3(KCNQ2):c.815T>C (p.Leu272Pro) KCNQ2 not provided Uncertain significance(Last reviewed: Jul 31, 2016) no assertion criteria provided 20 62073760 20 63442407 374744 361630
NM_172107.3(KCNQ2):c.812G>T (p.Gly271Val) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62073763 20 63442410 21803 34655
NM_172107.3(KCNQ2):c.811G>C (p.Gly271Arg) KCNQ2 not provided Likely pathogenic(Last reviewed: Oct 31, 2016) no assertion criteria provided 20 62073764 20 63442411 425271 413605
NM_172107.3(KCNQ2):c.809G>A (p.Trp270Ter) KCNQ2 not provided Pathogenic(Last reviewed: May 8, 2014) criteria provided, single submitter 20 62073766 20 63442413 205882 203777
NM_172107.3(KCNQ2):c.807G>A (p.Trp269Ter) KCNQ2 Benign familial neonatal seizures 1|not provided Pathogenic(Last reviewed: Jun 22, 2017) criteria provided, single submitter 20 62073768 20 63442415 21802 34654
NM_172107.3(KCNQ2):c.806G>T (p.Trp269Leu) KCNQ2 not provided Likely pathogenic(Last reviewed: Jan 9, 2013) criteria provided, single submitter 20 62073769 20 63442416 205881 203778
NM_172107.3(KCNQ2):c.804C>T (p.Leu268=) KCNQ2 not specified|Early infantile epileptic encephalopathy Benign(Last reviewed: May 15, 2017) criteria provided, multiple submitters, no conflicts 20 62073771 20 63442418 205831 203779
NM_172107.3(KCNQ2):c.803T>C (p.Leu268Pro) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic criteria provided, single submitter 20 62073772 20 63442419 219236 217260
NM_172107.3(KCNQ2):c.802C>T (p.Leu268Phe) KCNQ2 Early infantile epileptic encephalopathy 7|Epileptic encephalopathy Pathogenic/Likely pathogenic(Last reviewed: Nov 16, 2016) criteria provided, single submitter 20 62073773 20 63442420 369763 354013
NM_172107.3(KCNQ2):c.798T>A (p.Asp266Glu) KCNQ2 Epileptic encephalopathy Pathogenic(Last reviewed: Nov 16, 2016) criteria provided, single submitter 20 62073777 20 63442424 375518 362349
NM_172107.3(KCNQ2):c.795G>A (p.Ala265=) KCNQ2 not provided|Early infantile epileptic encephalopathy Conflicting interpretations of pathogenicity(Last reviewed: Aug 30, 2016) criteria provided, conflicting interpretations 20 62073780 20 63442427 129336 134782
NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val) KCNQ2 Early infantile epileptic encephalopathy 7|not provided|KCNQ2-Related Disorders Pathogenic/Likely pathogenic(Last reviewed: Jun 27, 2017) criteria provided, multiple submitters, no conflicts 20 62073781 20 63442428 120176 125784
NM_172107.3(KCNQ2):c.793G>C (p.Ala265Pro) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62073782 20 63442429 369762 354014
NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) KCNQ2 Benign familial neonatal seizures 1|Early infantile epileptic encephalopathy 7|Seizures|not provided|Early infantile epileptic encephalopathy Pathogenic/Likely pathogenic(Last reviewed: Sep 14, 2017) criteria provided, multiple submitters, no conflicts 20 62073782 20 63442429 197891 195052
NM_172107.3(KCNQ2):c.792C>T (p.Tyr264=) KCNQ2 not specified Likely benign(Last reviewed: May 11, 2017) criteria provided, single submitter 20 62073783 20 63442430 384366 378406
NM_172107.3(KCNQ2):c.790T>A (p.Tyr264Asn) KCNQ2 not provided Likely pathogenic(Last reviewed: Sep 27, 2015) criteria provided, single submitter 20 62073785 20 63442432 205880 203780
NM_172107.3(KCNQ2):c.782T>C (p.Phe261Ser) KCNQ2 not provided Likely pathogenic(Last reviewed: Oct 3, 2012) criteria provided, single submitter 20 62073793 20 63442440 205879 203781
NM_172107.3(KCNQ2):c.778C>T (p.His260Tyr) KCNQ2 Early infantile epileptic encephalopathy 7 Likely pathogenic(Last reviewed: Jan 1, 2018) criteria provided, single submitter 20 62073797 20 63442444 495248 486774
NM_172107.3(KCNQ2):c.776A>G (p.Asp259Gly) KCNQ2 not provided Likely pathogenic(Last reviewed: Nov 28, 2016) criteria provided, single submitter 20 62073799 20 63442446 373573 360437
NM_172107.3(KCNQ2):c.775G>T (p.Asp259Tyr) KCNQ2 Benign familial neonatal seizures 1 Pathogenic criteria provided, single submitter 20 62073800 20 63442447 219240 217261
NM_172107.3(KCNQ2):c.774C>T (p.Asn258=) KCNQ2 not specified|Early infantile epileptic encephalopathy Conflicting interpretations of pathogenicity(Last reviewed: May 31, 2017) criteria provided, conflicting interpretations 20 62073801 20 


63442448 197890 195051
NM_172107.3(KCNQ2):c.773A>G (p.Asn258Ser) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62073802 20 63442449 21801 34653
NM_172107.3(KCNQ2):c.766G>C (p.Gly256Arg) KCNQ2 not specified Uncertain significance(Last reviewed: Nov 28, 2016) criteria provided, single submitter 20 62073809 20 63442456 373592 360589
NM_172107.3(KCNQ2):c.764A>G (p.Lys255Arg) KCNQ2 not provided Likely pathogenic(Last reviewed: Jun 19, 2017) criteria provided, single submitter 20 62073811 20 63442458 432713 426353
NM_172107.3(KCNQ2):c.761A>G (p.Glu254Gly) KCNQ2 not specified Uncertain significance(Last reviewed: May 9, 2014) criteria provided, single submitter 20 62073814 20 63442461 197889 195050
NM_172107.3(KCNQ2):c.757G>A (p.Ala253Thr) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62073818 20 63442465 369761 354015
NM_172107.3(KCNQ2):c.754T>C (p.Leu252=) KCNQ2 not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Benign/Likely benign(Last reviewed: May 23, 2017) criteria provided, multiple submitters, no conflicts 20 62073821 20 63442468 138016 141719
NM_172107.3(KCNQ2):c.749T>G (p.Val250Gly) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62073826 20 63442473 21800 34652
NM_172107.3(KCNQ2):c.743T>C (p.Phe248Ser) KCNQ2 not provided Likely pathogenic(Last reviewed: Feb 10, 2016) criteria provided, single submitter 20 62073832 20 63442479 372909 360484
NM_172107.3(KCNQ2):c.741G>A (p.Ser247=) KCNQ2 KCNQ2-Related Disorders Likely benign(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62073834 20 63442481 339335 346013
NM_172107.3(KCNQ2):c.740C>T (p.Ser247Leu) KCNQ2 not provided Pathogenic/Likely pathogenic(Last reviewed: Oct 31, 2016) criteria provided, single submitter 20 62073835 20 63442482 205878 203782
NM_172107.3(KCNQ2):c.740C>A (p.Ser247Ter) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62073835 20 63442482 21799 34651
NM_172107.3(KCNQ2):c.740C>G (p.Ser247Trp) KCNQ2 Benign familial neonatal seizures 2|Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62073835 20 63442482 7389 22428
NM_172107.3(KCNQ2):c.729C>T (p.Leu243=) KCNQ2 not specified Likely benign(Last reviewed: Aug 19, 2016) criteria provided, single submitter 20 62073846 20 63442493 379357 379752
NM_172107.3(KCNQ2):c.727C>T (p.Leu243Phe) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62073848 20 63442495 21798 34650
NM_172107.3(KCNQ2):c.716G>T (p.Gly239Val) KCNQ2 not specified Uncertain significance(Last reviewed: Jan 18, 2013) criteria provided, single submitter 20 62073859 20 63442506 205877 203783
NM_172107.3(KCNQ2):c.715G>C (p.Gly239Arg) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62073860 20 63442507 369760 354016
NM_172107.3(KCNQ2):c.714C>T (p.Ile238=) KCNQ2 not specified|KCNQ2-Related Disorders|Early infantile epileptic encephalopathy Benign(Last reviewed: Jul 28, 2017) criteria provided, multiple submitters, no conflicts 20 62073861 20 63442508 129344 134790
NM_172107.3(KCNQ2):c.712A>C (p.Ile238Leu) KCNQ2 not provided Likely pathogenic(Last reviewed: Jul 1, 2016) criteria provided, single submitter 20 62073863 20 63442510 421609 410829
NM_172107.3(KCNQ2):c.710A>G (p.Tyr237Cys) KCNQ2 Inborn genetic diseases Pathogenic(Last reviewed: Sep 24, 2013) criteria provided, single submitter 20 62073865 20 63442512 208758 205321
NM_172107.3(KCNQ2):c.704C>T (p.Ala235Val) KCNQ2 Early infantile epileptic encephalopathy 7 Likely pathogenic(Last reviewed: Feb 10, 2017) criteria provided, single submitter 20 62073871 20 63442518 211235 208705
NM_172107.3(KCNQ2):c.701C>T (p.Thr234Ile) KCNQ2 not specified|Seizures Conflicting interpretations of pathogenicity(Last reviewed: Dec 5, 2014) criteria provided, conflicting interpretations 20 62073874 20 63442521 197892 195053
NM_172107.3(KCNQ2):c.700A>C (p.Thr234Pro) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62073875 20 63442522 369759 354017
NM_172107.3(KCNQ2):c.698_699insACC (p.Val233_Thr234insPro) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: May 13, 2016) no assertion criteria provided 20 62073876 - 62073877 20 63442523 - 63442524 202170 198642
NM_172107.3(KCNQ2):c.693G>T (p.Glu231Asp) KCNQ2 Seizures Likely pathogenic(Last reviewed: Jul 8, 2015) criteria provided, single submitter 20 62073882 20 63442529 211234 208706
NM_172107.3(KCNQ2):c.693G>C (p.Glu231Asp) KCNQ2 Inborn genetic diseases Pathogenic(Last reviewed: Sep 8, 2014) criteria provided, single submitter 20 62073882 20 63442529 208761 205322
NM_172107.3(KCNQ2):c.692A>G (p.Glu231Gly) KCNQ2 not provided Pathogenic(Last reviewed: May 9, 2013) criteria provided, single submitter 20 62073883 20 63442530 205876 203784
NM_172107.3(KCNQ2):c.691G>C (p.Glu231Gln) KCNQ2 not provided Pathogenic(Last reviewed: Aug 18, 2015) criteria provided, single submitter 20 62073884 20 63442531 419718 410830
NM_172107.3(KCNQ2):c.691-5C>T KCNQ2 KCNQ2-Related Disorders Uncertain significance(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62073889 20 63442536 339336 350374
NM_172107.3(KCNQ2):c.691-13G>A KCNQ2 not specified|not provided|KCNQ2-Related Disorders Conflicting interpretations of pathogenicity(Last reviewed: Nov 17, 2016) criteria provided, conflicting interpretations 20 62073897 20 63442544 205816 203785
NM_172107.3(KCNQ2):c.690+9C>T KCNQ2 not specified Likely benign(Last reviewed: Jul 26, 2016) criteria provided, single submitter 20 62076003 20 63444650 378022 378408
NM_172107.3(KCNQ2):c.690+3G>A KCNQ2 not specified Likely benign(Last reviewed: Mar 16, 2016) criteria provided, single submitter 20 62076009 20 63444656 384830 377146
NM_172107.3(KCNQ2):c.684C>A (p.His228Gln) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076018 20 63444665 21797 34649
NM_172107.3(KCNQ2):c.682C>T (p.His228Tyr) KCNQ2 not provided Likely pathogenic(Last reviewed: May 6, 2016) criteria provided, single submitter 20 62076020 20 63444667 432161 426354
NM_172107.3(KCNQ2):c.657G>C (p.Lys219Asn) KCNQ2 not provided Likely pathogenic(Last reviewed: Jan 10, 2017) criteria provided, single submitter 20 62076045 20 63444692 391958 377148
NM_172107.3(KCNQ2):c.654G>A (p.Trp218Ter) KCNQ2 not provided Pathogenic(Last reviewed: Sep 6, 2017) criteria provided, single submitter 20 62076048 20 63444695 451602 446290
NM_172107.3(KCNQ2):c.650C>A (p.Thr217Asn) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076052 20 63444699 369758 354018
NM_172107.3(KCNQ2):c.649A>G (p.Thr217Ala) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076053 20 63444700 369757 354019
NM_172107.3(KCNQ2):c.643G>A (p.Gly215Arg) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076059 20 63444706 369756 354020
NM_172107.3(KCNQ2):c.641G>C (p.Arg214Pro) KCNQ2 not provided Likely pathogenic(Last reviewed: Dec 6, 2016) criteria provided, single submitter 20 62076061 20 63444708 373698 360499
NM_172107.3(KCNQ2):c.640C>T (p.Arg214Trp) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076062 20 63444709 7385 22424
NM_172107.3(KCNQ2):c.638G>A (p.Arg213Gln) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic/Likely pathogenic(Last reviewed: Dec 6, 2016) criteria provided, multiple submitters, no conflicts 20 62076064 20 63444711 39760 48359
NM_172107.3(KCNQ2):c.637C>T (p.Arg213Trp) KCNQ2 Benign familial neonatal seizures 1|Early infantile epileptic encephalopathy 7|not provided|Early infantile epileptic encephalopathy Conflicting interpretations of pathogenicity(Last reviewed: Feb 2, 2017) criteria provided, conflicting interpretations 20 62076065 20 63444712 21795 34647
NM_172107.3(KCNQ2):c.636C>A (p.Asp212Glu) KCNQ2 not provided Pathogenic(Last reviewed: Apr 10, 2014) criteria provided, single submitter 20 62076066 20 63444713 205874 203787
NM_172107.3(KCNQ2):c.635A>T (p.Asp212Val) KCNQ2 not provided Likely pathogenic(Last reviewed: Apr 11, 2016) criteria provided, single submitter 20 62076067 20 63444714 420930 410831
NM_172107.3(KCNQ2):c.635A>G (p.Asp212Gly) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076067 20 63444714 21794 34646
NM_172107.3(KCNQ2):c.631A>G (p.Met211Val) KCNQ2 not provided Likely pathogenic(Last reviewed: Jan 11, 2017) criteria provided, single submitter 20 62076071 20 63444718 392705 378211
NM_172107.3(KCNQ2):c.629G>C (p.Arg210Pro) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Mar 9, 2017) criteria provided, multiple submitters, no conflicts 20 62076073 20 63444720 280614 265110
NM_172107.3(KCNQ2):c.629G>A (p.Arg210His) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Jun 6, 2016) criteria provided, single submitter 20 62076073 20 63444720 279931 264902
NM_172107.3(KCNQ2):c.628C>T (p.Arg210Cys) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076074 20 63444721 205873 203788
NM_172107.3(KCNQ2):c.624delG (p.Met208Ilefs) KCNQ2 not provided Pathogenic(Last reviewed: Jun 16, 2015) criteria provided, single submitter 20 62076078 20 63444725 265338 260236
NM_172107.3(KCNQ2):c.622A>G (p.Met208Val) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076080 20 63444727 21793 34645
NM_172107.3(KCNQ2):c.620G>A (p.Arg207Gln) KCNQ2 Early infantile epileptic encephalopathy 7|Seizures, benign familial neonatal, 1, and/or myokymia|not provided Pathogenic(Last reviewed: Jul 12, 2016) criteria provided, single submitter 20 62076082 20 63444729 7391 22430
NM_172107.3(KCNQ2):c.619C>T (p.Arg207Trp) KCNQ2 Benign familial neonatal seizures 1|Seizures, benign familial neonatal, 1, and/or myokymia|not provided Pathogenic(Last reviewed: Aug 19, 2016) criteria provided, single submitter 20 62076083 20 63444730 7386 22425
NM_172107.3(KCNQ2):c.613A>G (p.Ile205Val) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076089 20 63444736 369755 354021
NM_172107.3(KCNQ2):c.612G>T (p.Gln204His) KCNQ2 not provided Likely pathogenic(Last reviewed: Nov 23, 2016) criteria provided, single submitter 20 62076090 20 63444737 205872 203789
NM_172107.3(KCNQ2):c.612G>C (p.Gln204His) KCNQ2 not provided Pathogenic(Last reviewed: Nov 5, 2013) criteria provided, single submitter 20 62076090 20 63444737 205871 203790
NM_172107.3(KCNQ2):c.611A>G (p.Gln204Arg) KCNQ2 not provided Pathogenic(Last reviewed: Sep 11, 2012) criteria provided, single submitter 20 62076091 20 63444738 205870 203791
NM_172107.3(KCNQ2):c.608T>C (p.Leu203Pro) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076094 20 63444741 369754 354022
NM_172107.3(KCNQ2):c.607C>T (p.Leu203=) KCNQ2 not specified Likely benign(Last reviewed: May 3, 2016) criteria provided, single submitter 20 62076095 20 63444742 385716 379753
NM_172107.3(KCNQ2):c.603C>A (p.Arg201=) KCNQ2 not specified Likely benign(Last reviewed: Jan 6, 2017) criteria provided, single submitter 20 62076099 20 63444746 392524 378213
NM_172107.3(KCNQ2):c.602G>A (p.Arg201His) KCNQ2 Early infantile epileptic encephalopathy 7|Severe intellectual deficiency Pathogenic/Likely pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076100 20 63444747 369753 354023
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Mar 31, 2016) criteria provided, multiple submitters, no conflicts 20 62076101 20 63444748 205869 203792
NM_172107.3(KCNQ2):c.599T>C (p.Leu200Pro) KCNQ2 not provided Likely pathogenic(Last reviewed: Jul 23, 2013) criteria provided, single submitter 20 62076103 20 63444750 205868 203793
NM_172107.3(KCNQ2):c.592_594delCGGinsA (p.Arg198Lysfs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076108 - 62076110 20 63444755 - 63444757 369752 354024
NM_172107.3(KCNQ2):c.593G>A (p.Arg198Gln) KCNQ2 not provided Conflicting interpretations of pathogenicity(Last reviewed: Sep 30, 2016) criteria provided, conflicting interpretations 20 62076109 20 63444756 205867 203794
NM_172107.3(KCNQ2):c.584_593delCTGCGCTCCGinsA (p.Ser195_Leu532delinsTer) KCNQ2 Epileptic encephalopathy, early infantile, 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076109 - 62076118 20 63444756 - 63444765 21790 34642
NM_172107.3(KCNQ2):c.587C>T (p.Ala196Val) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076115 20 63444762 21792 34644
NM_172107.3(KCNQ2):c.585dup (p.Ala196Cysfs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076117 20 63444764 21791 34643
NM_172107.3(KCNQ2):c.583T>C (p.Ser195Pro) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic(Last reviewed: Mar 31, 2016) criteria provided, single submitter 20 62076119 20 63444766 205866 203795
NM_172107.3(KCNQ2):c.578C>A (p.Ala193Asp) KCNQ2 not provided Pathogenic(Last reviewed: May 3, 2012) criteria provided, single submitter 20 62076124 20 63444771 205865 203796
NM_172107.3(KCNQ2):c.570C>T (p.Asn190=) KCNQ2 not specified Benign(Last reviewed: Jul 25, 2013) criteria provided, single submitter 20 62076132 20 63444779 138015 141718
NM_172107.3(KCNQ2):c.566G>T (p.Gly189Val) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076136 20 63444783 369751 354025
NM_172107.3(KCNQ2):c.563A>C (p.Gln188Pro) KCNQ2 not provided Uncertain significance(Last reviewed: Oct 31, 2016) no assertion criteria provided 20 62076139 20 63444786 425272 413606
NM_172107.3(KCNQ2):c.554C>T (p.Ala185Val) KCNQ2 not specified Uncertain significance(Last reviewed: May 11, 2017) criteria provided, single submitter 20 62076148 20 63444795 429684 422345
NM_172107.3(KCNQ2):c.544G>A (p.Val182Met) KCNQ2 not provided Likely pathogenic(Last reviewed: Jul 27, 2015) criteria provided, single submitter 20 62076158 20 63444805 427046 415697
NM_172107.3(KCNQ2):c.532G>A (p.Ala178Thr) KCNQ2 not provided Uncertain significance(Last reviewed: Oct 31, 2017) no assertion criteria provided 20 62076170 20 63444817 444570 438210
NM_172107.3(KCNQ2):c.523G>C (p.Val175Leu) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076179 20 63444826 369748 354026
NM_172107.3(KCNQ2):c.515A>G (p.Asp172Gly) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Aug 14, 2017) criteria provided, single submitter 20 62076187 20 63444834 461422 470490
NM_172107.3(KCNQ2):c.515-9G>A KCNQ2 not specified Likely benign(Last reviewed: May 26, 2016) criteria provided, single submitter 20 62076196 20 63444843 378021 378218
NM_172107.3(KCNQ2):c.515-15A>G KCNQ2 not specified Likely benign(Last reviewed: Nov 2, 2016) criteria provided, single submitter 20 62076202 20 63444849 390521 379754
NM_172107.3(KCNQ2):c.514+4A>T KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: Apr 18, 2017) criteria provided, single submitter 20 62076587 20 63445234 461421 470493
NM_172107.3(KCNQ2):c.506G>T (p.Cys169Phe) KCNQ2 not provided Likely pathogenic(Last reviewed: Mar 15, 2015) criteria provided, single submitter 20 62076599 20 63445246 418726 410832
NM_172107.3(KCNQ2):c.505T>C (p.Cys169Arg) KCNQ2 not specified Uncertain significance(Last reviewed: Jul 10, 2017) criteria provided, single submitter 20 62076600 20 63445247 450447 446291
NM_172107.3(KCNQ2):c.485A>G (p.Lys162Arg) KCNQ2 not specified Uncertain significance(Last reviewed: Jan 6, 2017) criteria provided, single submitter 20 62076620 20 63445267 392510 378416
NM_172107.3(KCNQ2):c.479G>C (p.Arg160Pro) KCNQ2 not specified Uncertain significance(Last reviewed: Nov 16, 2016) criteria provided, single submitter 20 62076626 20 63445273 373279 360501
NM_172107.3(KCNQ2):c.476G>T (p.Gly159Val) KCNQ2 Early infantile epileptic encephalopathy 7 Likely pathogenic(Last reviewed: Mar 27, 2017) criteria provided, single submitter 20 62076629 20 63445276 438297 431924
NM_172107.3(KCNQ2):c.476G>A (p.Gly159Glu) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076629 20 63445276 369747 354027
NM_172107.3(KCNQ2):c.475G>A (p.Gly159Arg) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076630 20 63445277 369746 354028
NM_172107.3(KCNQ2):c.471G>A (p.Trp157Ter) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076634 20 63445281 369744 354029
NM_172107.3(KCNQ2):c.463C>T (p.Arg155Cys) KCNQ2 not specified Uncertain significance(Last reviewed: Oct 2, 2015) criteria provided, single submitter 20 62076642 20 63445289 283735 267972
NM_172107.3(KCNQ2):c.460T>G (p.Tyr154Asp) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076645 20 63445292 369743 354030
NM_172107.3(KCNQ2):c.436T>A (p.Trp146Arg) KCNQ2 not specified Uncertain significance(Last reviewed: Jun 26, 2017) criteria provided, single submitter 20 62076669 20 63445316 432987 426355
NM_172107.3(KCNQ2):c.431G>A (p.Arg144Gln) KCNQ2 Early infantile epileptic encephalopathy 7|not provided Pathogenic/Likely pathogenic(Last reviewed: Jun 23, 2016) criteria provided, multiple submitters, no conflicts 20 62076674 20 63445321 205864 203798
NM_172107.3(KCNQ2):c.430C>T (p.Arg144Trp) KCNQ2 not provided Pathogenic(Last reviewed: Oct 4, 2017) criteria provided, single submitter 20 62076675 20 63445322 452487 446292
NM_172107.3(KCNQ2):c.426C>T (p.Phe142=) KCNQ2 not specified|Early infantile epileptic encephalopathy Likely benign(Last reviewed: Sep 15, 2016) criteria provided, multiple submitters, no conflicts 20 62076679 20 63445326 380122 378417
NM_172107.3(KCNQ2):c.415G>A (p.Val139Met) KCNQ2 not specified Uncertain significance(Last reviewed: Jul 19, 2017) criteria provided, single submitter 20 62076690 20 63445337 450575 446293
NM_172107.3(KCNQ2):c.402C>T (p.Ile134=) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: Aug 22, 2016) criteria provided, single submitter 20 62076703 20 63445350 413253 404210
NM_172107.3(KCNQ2):c.388G>A (p.Glu130Lys) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic criteria provided, single submitter 20 62076717 20 63445364 219238 217262
NM_172107.3(KCNQ2):c.388-2_388delAGG KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076717 - 62076719 20 63445364 - 63445366 21789 34641
NM_172107.3(KCNQ2):c.388-9C>G KCNQ2 not specified Conflicting interpretations of pathogenicity(Last reviewed: Jan 20, 2016) criteria provided, conflicting interpretations 20 62076726 20 63445373211233 208707
NM_172107.3(KCNQ2):c.387+18delG KCNQ2 not specified Likely benign(Last reviewed: May 16, 2016) criteria provided, single submitter 20 62078082 20 63446729 421139 410833
NM_172107.3(KCNQ2):c.387+9C>T KCNQ2 KCNQ2-Related Disorders Uncertain significance(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62078091 20 63446738 339337 336284
NM_172107.3(KCNQ2):c.387+1G>T KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62078099 20 63446746 21788 34640
NM_172107.3(KCNQ2):c.380A>G (p.Tyr127Cys) KCNQ2 not provided Likely pathogenic(Last reviewed: Jun 28, 2016) criteria provided, single submitter 20 62078107 20 63446754 205863 203799
NM_172107.3(KCNQ2):c.365C>T (p.Ser122Leu) KCNQ2 Benign familial neonatal seizures 1|not provided Pathogenic(Last reviewed: Oct 11, 2017) criteria provided, single submitter 20 62078122 20 63446769 21787 34639
NM_172107.3(KCNQ2):c.356A>G (p.Glu119Gly) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62078131 20 63446778 21786 34638
NM_172107.3(KCNQ2):c.346_348delAAG (p.Lys116del) KCNQ2 Benign familial neonatal seizures|Benign familial neonatal seizures Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62078139 - 62078141 20 63446786 - 63446788 21785 34637
NM_172107.3(KCNQ2):c.341C>T (p.Thr114Ile) KCNQ2 Early infantile epileptic encephalopathy 7 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62078146 20 63446793 369742 354031
NM_172107.3(KCNQ2):c.340A>G (p.Thr114Ala) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62078147 20 63446794 369741 354032
NM_172107.3(KCNQ2):c.338_339delCCinsAT (p.Ser113Tyr) KCNQ2 not provided Likely pathogenic(Last reviewed: Apr 27, 2017) criteria provided, single submitter 20 62078148 - 62078149 20 63446795 - 63446796 449878 446294
NM_172107.3(KCNQ2):c.338C>T (p.Ser113Phe) KCNQ2 not provided Likely pathogenic(Last reviewed: Jun 20, 2013) criteria provided, single submitter 20 62078149 20 63446796 205862 203800
NM_172107.3(KCNQ2):c.333_334delGT (p.Ser113Hisfs) KCNQ2 Benign familial neonatal seizures 1|not provided Pathogenic(Last reviewed: Mar 31, 2016) criteria provided, single submitter 20 62078153 - 62078154 20 63446800 - 63446801 205940 203801
NM_172107.3(KCNQ2):c.329_332delCTGT (p.Ser110Cysfs) KCNQ2 not provided Pathogenic(Last reviewed: Jul 31, 2017) criteria provided, single submitter 20 62078155 - 62078158 20 63446802 - 63446805 422997 410834
NM_172107.3(KCNQ2):c.322G>A (p.Val108Met) KCNQ2 not specified Uncertain significance(Last reviewed: Jan 3, 2017) criteria provided, single submitter 20 62078165 20 63446812 391566 378224
NM_172107.3(KCNQ2):c.321C>T (p.Leu107=) KCNQ2 not specified Likely benign(Last reviewed: Jul 19, 2016) criteria provided, single submitter 20 62078166 20 63446813 387833 378420
NM_172107.3(KCNQ2):c.320T>C (p.Leu107Pro) KCNQ2 not provided Uncertain significance(Last reviewed: Feb 28, 2017) no assertion criteria provided 20 62078167 20 63446814 444571 438211
NM_172107.3(KCNQ2):c.319C>T (p.Leu107Phe) KCNQ2 Benign familial neonatal seizures 1 Pathogenic criteria provided, single submitter 20 62078168 20 63446815 219241 217263
NM_172107.2(KCNQ2):c.314_316delCCT (p.Ser105del) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62078171 - 62078173 20 63446818 - 63446820 21784 34636
NM_172107.3(KCNQ2):c.311T>C (p.Phe104Ser) KCNQ2 not provided Likely pathogenic(Last reviewed: Mar 22, 2017) criteria provided, single submitter 20 62078176 20 63446823 424370 410835
NM_172107.3(KCNQ2):c.307G>A (p.Val103Ile) KCNQ2 not specified Uncertain significance(Last reviewed: Jul 10, 2017) criteria provided, single submitter 20 62078180 20 63446827 450514 446295
NM_172107.3(KCNQ2):c.303_305delCCT (p.Leu102del) KCNQ2 not provided Likely pathogenic(Last reviewed: Sep 9, 2016) criteria provided, single submitter 20 62078182 - 62078184 20 63446829 - 63446831 421903 410836
NM_172107.3(KCNQ2):c.303C>G (p.Leu101=) KCNQ2 not specified|Early infantile epileptic encephalopathy Benign(Last reviewed: Aug 1, 2017) criteria provided, multiple submitters, no conflicts 20 62078184 20 63446831 138014 141717
NM_172107.3(KCNQ2):c.297delG (p.Phe100Serfs) KCNQ2 not provided Pathogenic(Last reviewed: Mar 15, 2016) criteria provided, single submitter 20 62078190 20 63446837 280397 264763
NM_172107.3(KCNQ2):c.297-2A>G KCNQ2 Benign familial neonatal seizures 1|not provided Pathogenic(Last reviewed: Mar 31, 2016) criteria provided, single submitter 20 62078192 20 63446839 205861 203802
NM_172107.3(KCNQ2):c.297-18C>T KCNQ2 not specified Benign(Last reviewed: May 30, 2013) criteria provided, single submitter 20 62078208 20 63446855 138013 141716
NM_172107.3(KCNQ2):c.296+1G>A KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62103520 20 63472167 21811 34663
NM_172107.3(KCNQ2):c.294C>G (p.Tyr98Ter) KCNQ2 not provided Pathogenic(Last reviewed: May 28, 2013) criteria provided, single submitter 20 62103523 20 63472170 205860 203803
NM_172107.3(KCNQ2):c.290C>T (p.Ala97Val) KCNQ2 not specified Uncertain significance(Last reviewed: May 22, 2017) criteria provided, single submitter 20 62103527 20 63472174 430277 422346
NM_172107.3(KCNQ2):c.288C>T (p.His96=) KCNQ2 not specified Likely benign(Last reviewed: Jun 1, 2016) criteria provided, single submitter 20 62103529 20 63472176 386650 378431
NM_172107.3(KCNQ2):c.287A>C (p.His96Pro) KCNQ2 not provided Likely pathogenic(Last reviewed: Jun 22, 2015) criteria provided, single submitter 20 62103530 20 63472177 372576 360479
NM_172107.3(KCNQ2):c.286dup (p.His96Profs) KCNQ2 not provided Pathogenic(Last reviewed: Aug 18, 2015) criteria provided, single submitter 20 62103531 20 63472178 427025 415698
NM_172107.3(KCNQ2):c.285C>A (p.Tyr95Ter) KCNQ2 not provided Likely pathogenic(Last reviewed: Apr 3, 2017) criteria provided, single submitter 20 62103532 20 63472179 449910 446296
NM_172107.3(KCNQ2):c.274dupG (p.Ala92Glyfs) KCNQ2 not provided Pathogenic(Last reviewed: Jul 29, 2016) criteria provided, single submitter 20 62103543 20 63472190 280740 265112
NM_172107.3(KCNQ2):c.232delC (p.Gln78Argfs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62103585 20 63472232 21778 34630
NM_172107.3(KCNQ2):c.222C>G (p.Tyr74Ter) KCNQ2 not provided Pathogenic(Last reviewed: Jul 31, 2014) criteria provided, single submitter 20 62103595 20 63472242 205859 203804
NM_172107.3(KCNQ2):c.204dupC (p.Lys69Glnfs) KCNQ2 Benign familial neonatal seizures 1|not provided Pathogenic(Last reviewed: Mar 31, 2016) criteria provided, single submitter 20 62103613 20 63472260 21776 34628
NM_172107.3(KCNQ2):c.190G>T (p.Ala64Ser) KCNQ2 not specified Likely benign(Last reviewed: May 1, 2014) criteria provided, single submitter 20 62103627 20 63472274 205858 203805
NM_172107.3(KCNQ2):c.185C>G (p.Ala62Gly) KCNQ2 KCNQ2-Related Disorders Uncertain significance(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62103632 20 63472279 339338 336291
NM_172107.3(KCNQ2):c.185C>T (p.Ala62Val) KCNQ2 not specified Likely benign(Last reviewed: Jan 23, 2013) criteria provided, single submitter 20 62103632 20 63472279 205857 203806
NM_172107.3(KCNQ2):c.149G>A (p.Arg50His) KCNQ2 not provided Uncertain significance(Last reviewed: Sep 30, 2016) no assertion criteria provided 20 62103668 20 63472315 425273 413607
NM_172107.3(KCNQ2):c.128C>T (p.Ala43Val) KCNQ2 not specified Uncertain significance(Last reviewed: Aug 26, 2015) criteria provided, single submitter 20 62103689 20 63472336 205939 203807
NM_172107.3(KCNQ2):c.126C>A (p.Ile42=) KCNQ2 Early infantile epileptic encephalopathy Likely benign(Last reviewed: Mar 9, 2017) criteria provided, single submitter 20 62103691 20 63472338 461406 470997
NM_172107.3(KCNQ2):c.81G>A (p.Leu27=) KCNQ2 not specified|KCNQ2-Related Disorders Benign/Likely benign(Last reviewed: Jun 14, 2016) criteria provided, multiple submitters, no conflicts 20 62103736 20 63472383 138038 141741
NM_172107.3(KCNQ2):c.78G>A (p.Gly26=) KCNQ2 not specified Likely benign(Last reviewed: Jan 15, 2016) criteria provided, single submitter 20 62103739 20 63472386 382868 379755
NM_172107.3(KCNQ2):c.63_66delGGTG (p.Val22Alafs) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62103751 - 62103754 20 63472398 - 63472401 21796 34648
NM_172107.3(KCNQ2):c.31T>C (p.Tyr11His) KCNQ2 Early infantile epileptic encephalopathy Uncertain significance(Last reviewed: May 7, 2017) criteria provided, single submitter 20 62103786 20 63472433 461420 471005
NM_172107.3(KCNQ2):c.22G>T (p.Gly8Cys) KCNQ2 not specified Uncertain significance(Last reviewed: Aug 1, 2017) criteria provided, single submitter 20 62103795 20 63472442 450703 446297
NM_172107.3(KCNQ2):c.17G>C (p.Arg6Pro) KCNQ2 not specified Uncertain significance(Last reviewed: Apr 20, 2017) criteria provided, single submitter 20 62103800 20 63472447 429227 422347
NM_172107.3(KCNQ2):c.12G>C (p.Lys4Asn) KCNQ2 not specified Uncertain significance(Last reviewed: Dec 13, 2016) criteria provided, single submitter 20 62103805 20 63472452 373753 360440
NM_172107.3(KCNQ2):c.2T>C (p.Met1Thr) KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62103815 20 63472462 21783 34635
NM_172107.3(KCNQ2):c.1A>G (p.Met1Val) KCNQ2 Benign familial neonatal seizures 1|not provided|Early infantile epileptic encephalopathy Pathogenic/Likely pathogenic(Last reviewed: Sep 28, 2017) criteria provided, multiple 
submitters, no conflicts 20 62103816 20 63472463 21774 34626
NM_172107.3(KCNQ2):c.-11C>T KCNQ2 not specified|KCNQ2-Related Disorders Benign/Likely benign(Last reviewed: Jun 14, 2016) criteria provided, multiple submitters, no conflicts 20 62103827 20 63472474 138037 141740
NM_172107.3(KCNQ2):c.-15C>A KCNQ2 not specified Likely benign(Last reviewed: Aug 10, 2012) criteria provided, single submitter 20 62103831 20 63472478 205856 203808
NM_172107.3(KCNQ2):c.-32A>G KCNQ2 not specified Likely benign(Last reviewed: May 17, 2012) criteria provided, single submitter 20 62103848 20 63472495 205855 203809
NM_172107.3(KCNQ2):c.-42G>A KCNQ2 not specified Likely benign(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62103858 20 63472505 378020 378432
NM_172109.2(KCNQ2):c.-42G>T KCNQ2 not specified|KCNQ2-Related Disorders Likely benign(Last reviewed: Jun 14, 2016) criteria provided, multiple submitters, no conflicts 20 62103858 20 63472505 138036 141739
NM_172107.3(KCNQ2):c.-46C>G KCNQ2 not specified Benign(Last reviewed: Oct 31, 2014) criteria provided, single submitter 20 62103862 20 63472509 205854 203810
NM_172107.3(KCNQ2):c.-83G>T KCNQ2 KCNQ2-Related Disorders Uncertain significance(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62103899 20 63472546 339339 351411
NM_172107.3(KCNQ2):c.-88G>T KCNQ2 KCNQ2-Related Disorders Benign(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62103904 20 63472551 339340 350375
NM_172107.3(KCNQ2):c.-107G>A KCNQ2 KCNQ2-Related Disorders Uncertain significance(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62103923 20 63472570 339341 346018
NM_172107.3(KCNQ2):c.-150C>A KCNQ2 KCNQ2-Related Disorders Likely benign(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62103966 20 63472613 339342 351414
NM_172107.3(KCNQ2):c.-169G>T KCNQ2 KCNQ2-Related Disorders Uncertain significance(Last reviewed: Jun 14, 2016) criteria provided, single submitter 20 62103985 20 63472632 339343 351416
NC_000020.11:g.(?_63419599)_(63439728_?)del KCNQ2 Early infantile epileptic encephalopathy Pathogenic(Last reviewed: Jun 1, 2017) criteria provided, single submitter 20 63419599 - 63439728 461212 470845
NC_000020.11:g.(?_63406624)_(63439728_?)del KCNQ2 Early infantile epileptic encephalopathy Pathogenic(Last reviewed: Jun 3, 2017) criteria provided, single submitter 20 63406624 - 63439728 461211 470839
NC_000020.11:g.(?_63406624)_(63407395_?)del KCNQ2 Early infantile epileptic encephalopathy Likely pathogenic(Last reviewed: Jun 16, 2017) criteria provided, single submitter 20 63406624 - 63407395 461210 470836
NM_172107.3(KCNQ2):c.1764-?_*(455_?)del KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62037542 - 62039889 20 63406189 - 63408536 369809 353967
NM_172107.3(KCNQ2):c.1248-?_*(455_?)del KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62037542 - 62051025 20 63406189 - 63419672 369792 353968
NM_172107.3(KCNQ2):c.(?_-177)_690+?del KCNQ2 Benign familial neonatal seizures 1 Pathogenic(Last reviewed: Mar 31, 2016) no assertion criteria provided 20 62076012 - 62103993 20 63444659 - 63472640 369739 353969
GRCh37/hg19 20q13.33(chr20:62051174-62078598)x1 KCNQ2 See cases Pathogenic(Last reviewed: Jan 20, 2016) criteria provided, single submitter 20 62051174 - 62078598 253418 247866
GRCh37/hg19 20q13.33(chr20:62045767-62055866)x1 KCNQ2 See cases Pathogenic(Last reviewed: Jan 20, 2016) criteria provided, single submitter 20 62045767 - 62055866 253385 247833