| NM_004519.4(KCNQ3):c.1885G>A (p.Val629Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV001065210]|Inborn genetic diseases [RCV002527561]|not provided [RCV000523501] |
Chr8:132129996 [GRCh38]
Chr8:133142243 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1199G>A (p.Arg400Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV000544083]|KCNQ3-related disorder [RCV004742496]|Seizures, benign familial neonatal, 2 [RCV001329910] |
Chr8:132170370 [GRCh38]
Chr8:133182617 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1552G>A (p.Ala518Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV001342298]|Seizures, benign familial neonatal, 2 [RCV003133297]|not specified [RCV000516474] |
Chr8:132140092 [GRCh38]
Chr8:133152339 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2298G>C (p.Leu766=) |
single nucleotide variant |
Benign neonatal seizures [RCV000555243] |
Chr8:132129583 [GRCh38]
Chr8:133141830 [GRCh37]
Chr8:8q24.22 |
likely benign |
| KCNQ3, TRP309ARG |
single nucleotide variant |
Benign familial neonatal seizures 2 [RCV000088662] |
Chr8:8q24 |
pathogenic |
| KCNQ3, ARG330CYS |
single nucleotide variant |
Benign familial neonatal seizures 2 [RCV000088663] |
Chr8:8q24 |
pathogenic |
| NM_004519.4(KCNQ3):c.933+12C>T |
single nucleotide variant |
Benign neonatal seizures [RCV002066654]|not specified [RCV000603240] |
Chr8:132175441 [GRCh38]
Chr8:133187688 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.456G>A (p.Ser152=) |
single nucleotide variant |
Benign neonatal seizures [RCV001494324] |
Chr8:132186112 [GRCh38]
Chr8:133198359 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1694A>G (p.Gln565Arg) |
single nucleotide variant |
not provided [RCV000522724] |
Chr8:132137891 [GRCh38]
Chr8:133150138 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2038T>G (p.Leu680Val) |
single nucleotide variant |
Benign neonatal seizures [RCV000529707] |
Chr8:132129843 [GRCh38]
Chr8:133142090 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000326256]|Benign neonatal seizures [RCV000266513]|Inborn genetic diseases [RCV002311520]|Seizures, benign familial neonatal, 2 [RCV000678046]|not provided [RCV004712003]|not specified [RCV000117352] |
Chr8:132163489 [GRCh38]
Chr8:133175736 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV001081148]|Inborn genetic diseases [RCV002390116]|Seizures, benign familial neonatal, 2 [RCV000678047]|not provided [RCV000723919] |
Chr8:132141191 [GRCh38]
Chr8:133153438 [GRCh37]
Chr8:8q24.22 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000384756]|Benign neonatal seizures [RCV000290815]|Inborn genetic diseases [RCV002316199]|Intellectual disability [RCV001257744]|KCNQ3-related disorder [RCV003934846]|Seizures, benign familial neonatal, 2 [RCV000661926]|not provided [RCV001529220]|not specified [RCV000081107] |
Chr8:132134369 [GRCh38]
Chr8:133146616 [GRCh37]
Chr8:8q24.22 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000327599]|Benign neonatal seizures [RCV000368463]|Inborn genetic diseases [RCV002313716]|Seizures, benign familial neonatal, 2 [RCV000678048]|not provided [RCV000723967] |
Chr8:132129419 [GRCh38]
Chr8:133141666 [GRCh37]
Chr8:8q24.22 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_004519.4(KCNQ3):c.895G>A (p.Glu299Lys) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV000678049] |
Chr8:132175491 [GRCh38]
Chr8:133187738 [GRCh37]
Chr8:8q24.22 |
pathogenic|not provided |
| NM_004519.4(KCNQ3):c.914A>G (p.Asp305Gly) |
single nucleotide variant |
Benign neonatal seizures [RCV003586126]|Seizures, benign familial neonatal, 2 [RCV000678050]|not specified [RCV002281712] |
Chr8:132175472 [GRCh38]
Chr8:133187719 [GRCh37]
Chr8:8q24.22 |
pathogenic|uncertain significance|not provided |
| NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV000020601] |
Chr8:132175461 [GRCh38]
Chr8:133187708 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV000462450]|Seizures, benign familial neonatal, 2 [RCV000020602]|not provided [RCV003233074] |
Chr8:132174295 [GRCh38]
Chr8:133186542 [GRCh37]
Chr8:8q24.22 |
pathogenic|likely pathogenic |
| NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV000007816] |
Chr8:132175457 [GRCh38]
Chr8:133187704 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 |
copy number gain |
See cases [RCV000050830] |
Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3 |
pathogenic |
| GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1 |
copy number loss |
See cases [RCV000050751] |
Chr8:129176782..134170188 [GRCh38]
Chr8:130189028..135182431 [GRCh37]
Chr8:130258210..135251613 [NCBI36]
Chr8:8q24.21-24.22 |
pathogenic |
| GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 |
copy number gain |
See cases [RCV000050638] |
Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 |
copy number gain |
See cases [RCV000051206] |
Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] |
Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3 |
pathogenic |
| GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 |
copy number gain |
See cases [RCV000053678] |
Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000053602] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] |
Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 |
copy number loss |
See cases [RCV000054306] |
Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23 |
pathogenic |
| NM_004519.4(KCNQ3):c.2381C>T (p.Ser794Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV001368930]|Inborn genetic diseases [RCV002316219] |
Chr8:132129500 [GRCh38]
Chr8:133141747 [GRCh37]
Chr8:133210929 [NCBI36]
Chr8:8q24.22 |
uncertain significance|not provided |
| NM_004519.3(KCNQ3):c.453C>T (p.Val151=) |
single nucleotide variant |
Malignant melanoma [RCV000068159] |
Chr8:132186115 [GRCh38]
Chr8:133198362 [GRCh37]
Chr8:133267544 [NCBI36]
Chr8:8q24.22 |
not provided |
| NM_004519.4(KCNQ3):c.1207G>A (p.Glu403Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV001235684] |
Chr8:132170362 [GRCh38]
Chr8:133182609 [GRCh37]
Chr8:133251791 [NCBI36]
Chr8:8q24.22 |
uncertain significance|not provided |
| NM_004519.3(KCNQ3):c.1263-8430C>T |
single nucleotide variant |
Lung cancer [RCV000107052] |
Chr8:132149761 [GRCh38]
Chr8:133162008 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.3(KCNQ3):c.777+2264C>G |
single nucleotide variant |
Lung cancer [RCV000107053] |
Chr8:132177893 [GRCh38]
Chr8:133190140 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.3(KCNQ3):c.386+101470A>G |
single nucleotide variant |
Lung cancer [RCV000107055] |
Chr8:132378677 [GRCh38]
Chr8:133390924 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=) |
single nucleotide variant |
Benign neonatal seizures [RCV000466449]|Inborn genetic diseases [RCV002312152]|Seizures, benign familial neonatal, 2 [RCV002505043]|not provided [RCV004712048]|not specified [RCV000117350] |
Chr8:132172679 [GRCh38]
Chr8:133184926 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004519.4(KCNQ3):c.1071C>G (p.Leu357=) |
single nucleotide variant |
Benign neonatal seizures [RCV000380846]|Inborn genetic diseases [RCV002312153]|Seizures, benign familial neonatal, 2 [RCV000272547]|not provided [RCV001705840]|not specified [RCV000117351] |
Chr8:132172667 [GRCh38]
Chr8:133184914 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) |
single nucleotide variant |
Benign neonatal seizures [RCV000355353]|Inborn genetic diseases [RCV002312154]|KCNQ3-related disorder [RCV003952569]|Seizures, benign familial neonatal, 2 [RCV000265351]|not provided [RCV004704861]|not specified [RCV000117353] |
Chr8:132140093 [GRCh38]
Chr8:133152340 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004519.4(KCNQ3):c.660T>C (p.Asn220=) |
single nucleotide variant |
Benign neonatal seizures [RCV000279747]|Inborn genetic diseases [RCV002312155]|Seizures, benign familial neonatal, 2 [RCV000388063]|not provided [RCV001705841]|not specified [RCV000117354] |
Chr8:132180274 [GRCh38]
Chr8:133192521 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.732T>C (p.Gly244=) |
single nucleotide variant |
Benign neonatal seizures [RCV000352199]|Inborn genetic diseases [RCV002312156]|Seizures, benign familial neonatal, 2 [RCV000292510]|not provided [RCV001705842]|not specified [RCV000117355] |
Chr8:132180202 [GRCh38]
Chr8:133192449 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.2590G>A (p.Val864Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV001367878] |
Chr8:132129291 [GRCh38]
Chr8:133141538 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1120C>T (p.Pro374Ser) |
single nucleotide variant |
not provided [RCV003223910] |
Chr8:132172618 [GRCh38]
Chr8:133184865 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.778-17A>C |
single nucleotide variant |
Benign neonatal seizures [RCV002055651]|not specified [RCV000126481] |
Chr8:132175625 [GRCh38]
Chr8:133187872 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.948C>T (p.Thr316=) |
single nucleotide variant |
Benign neonatal seizures [RCV000327691]|Inborn genetic diseases [RCV002316385]|Seizures, benign familial neonatal, 2 [RCV000386745]|not provided [RCV004704980]|not specified [RCV000126482] |
Chr8:132174335 [GRCh38]
Chr8:133186582 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004519.4(KCNQ3):c.954C>A (p.Gly318=) |
single nucleotide variant |
Benign neonatal seizures [RCV001442576]|not provided [RCV000724468]|not specified [RCV000186635] |
Chr8:132174329 [GRCh38]
Chr8:133186576 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.1236-16C>T |
single nucleotide variant |
Benign neonatal seizures [RCV002055652]|Seizures, benign familial neonatal, 2 [RCV002498616]|not specified [RCV000126485] |
Chr8:132163510 [GRCh38]
Chr8:133175757 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.1568+12A>G |
single nucleotide variant |
Benign neonatal seizures [RCV002055653]|not provided [RCV000514782]|not specified [RCV000126488] |
Chr8:132140064 [GRCh38]
Chr8:133152311 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1626T>C (p.Asp542=) |
single nucleotide variant |
Benign neonatal seizures [RCV001459460]|not specified [RCV000126489] |
Chr8:132137959 [GRCh38]
Chr8:133150206 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.1701-17C>T |
single nucleotide variant |
Benign neonatal seizures [RCV002055654]|not specified [RCV000126490] |
Chr8:132134405 [GRCh38]
Chr8:133146652 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=) |
single nucleotide variant |
Benign neonatal seizures [RCV000457889]|Inborn genetic diseases [RCV002316386]|KCNQ3-related disorder [RCV003945129]|not provided [RCV003436945]|not specified [RCV000174900] |
Chr8:132129964 [GRCh38]
Chr8:133142211 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=) |
single nucleotide variant |
Benign neonatal seizures [RCV001448701]|not provided [RCV000727123]|not specified [RCV000126492] |
Chr8:132129946 [GRCh38]
Chr8:133142193 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.1947G>A (p.Arg649=) |
single nucleotide variant |
Benign neonatal seizures [RCV000868323]|not specified [RCV000126493] |
Chr8:132129934 [GRCh38]
Chr8:133142181 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.2097C>T (p.Phe699=) |
single nucleotide variant |
Benign neonatal seizures [RCV000647900]|KCNQ3-related disorder [RCV003905205]|Seizures, benign familial neonatal, 2 [RCV001160873]|not specified [RCV000126494] |
Chr8:132129784 [GRCh38]
Chr8:133142031 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.2168G>A (p.Gly723Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV000476576]|Inborn genetic diseases [RCV002312898]|KCNQ3-related disorder [RCV003945130]|Seizures, benign familial neonatal, 2 [RCV001159505]|not provided [RCV004712114]|not specified [RCV000126495] |
Chr8:132129713 [GRCh38]
Chr8:133141960 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000319682]|Benign neonatal seizures [RCV000374391]|Inborn genetic diseases [RCV002312899]|Seizures, benign familial neonatal, 2 [RCV000625015]|not provided [RCV000712133]|not specified [RCV000126496] |
Chr8:132129575 [GRCh38]
Chr8:133141822 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004519.4(KCNQ3):c.2349G>A (p.Thr783=) |
single nucleotide variant |
Benign neonatal seizures [RCV000273787]|Inborn genetic diseases [RCV002444589]|Seizures, benign familial neonatal, 2 [RCV000333674]|not provided [RCV000860790]|not specified [RCV000126497] |
Chr8:132129532 [GRCh38]
Chr8:133141779 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.240G>A (p.Arg80=) |
single nucleotide variant |
Benign neonatal seizures [RCV002055655]|not specified [RCV000126498] |
Chr8:132480293 [GRCh38]
Chr8:133492540 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 |
copy number gain |
not provided [RCV000848192] |
Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.127G>A (p.Val43Met) |
single nucleotide variant |
not provided [RCV000173345] |
Chr8:132480406 [GRCh38]
Chr8:133492653 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2026A>G (p.Arg676Gly) |
single nucleotide variant |
Benign neonatal seizures [RCV001303091] |
Chr8:132129855 [GRCh38]
Chr8:133142102 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1346A>T (p.Asn449Ile) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149105] |
Chr8:132141248 [GRCh38]
Chr8:133153495 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV000404166]|Seizures, benign familial neonatal, 2 [RCV000300549]|not provided [RCV000174103] |
Chr8:132140080 [GRCh38]
Chr8:133152327 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV001087307]|Inborn genetic diseases [RCV002313035]|Seizures, benign familial neonatal, 2 [RCV000515326]|not provided [RCV000724075] |
Chr8:132129887 [GRCh38]
Chr8:133142134 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.2391C>T (p.His797=) |
single nucleotide variant |
Benign neonatal seizures [RCV001441189]|not provided [RCV000174899] |
Chr8:132129490 [GRCh38]
Chr8:133141737 [GRCh37]
Chr8:8q24.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 |
copy number gain |
See cases [RCV000133621] |
Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3 |
pathogenic |
| GRCh38/hg38 8q24.22(chr8:131770098-132203964)x3 |
copy number gain |
See cases [RCV000133767] |
Chr8:131770098..132203964 [GRCh38]
Chr8:132782345..133216211 [GRCh37]
Chr8:132851527..133285393 [NCBI36]
Chr8:8q24.22 |
uncertain significance |
| GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 |
copy number gain |
See cases [RCV000134353] |
Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3 |
pathogenic |
| GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 |
copy number gain |
See cases [RCV000135621] |
Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23 |
pathogenic|likely pathogenic |
| GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 |
copy number gain |
See cases [RCV000137644] |
Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 |
copy number gain |
See cases [RCV000137346] |
Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3 |
pathogenic |
| GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 |
copy number gain |
See cases [RCV000138551] |
Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 |
copy number gain |
See cases [RCV000138643] |
Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 |
copy number gain |
See cases [RCV000139036] |
Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3 |
pathogenic |
| GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 |
copy number gain |
See cases [RCV000140447] |
Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3 |
pathogenic |
| GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 |
copy number gain |
See cases [RCV000139539] |
Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3 |
pathogenic |
| GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 |
copy number gain |
See cases [RCV000141694] |
Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 |
copy number gain |
See cases [RCV000141808] |
Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 |
copy number gain |
See cases [RCV000142021] |
Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 |
copy number gain |
See cases [RCV000142810] |
Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3 |
pathogenic|likely pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 |
copy number gain |
See cases [RCV000142858] |
Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 |
copy number gain |
See cases [RCV000142597] |
Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000148092] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 |
copy number gain |
See cases [RCV000143659] |
Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3 |
pathogenic |
| GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 |
copy number gain |
See cases [RCV000148117] |
Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.1995G>A (p.Ser665=) |
single nucleotide variant |
Benign neonatal seizures [RCV000874103]|KCNQ3-related disorder [RCV003907690]|not provided [RCV001610511]|not specified [RCV000192767] |
Chr8:132129886 [GRCh38]
Chr8:133142133 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.2492G>A (p.Arg831Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV000647891]|Seizures, benign familial neonatal, 2 [RCV001164437]|not specified [RCV000194011] |
Chr8:132129389 [GRCh38]
Chr8:133141636 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1599dup (p.Phe534fs) |
duplication |
Benign neonatal seizures [RCV001380941]|Seizure [RCV000824971]|not provided [RCV000187983] |
Chr8:132137985..132137986 [GRCh38]
Chr8:133150232..133150233 [GRCh37]
Chr8:8q24.22 |
pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.36_60del (p.Gly13fs) |
deletion |
not specified [RCV000188005] |
Chr8:132480473..132480497 [GRCh38]
Chr8:133492720..133492744 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.56_73del (p.Gly19_Gly24del) |
deletion |
Benign neonatal seizures [RCV001059865]|Inborn genetic diseases [RCV002317117]|not specified [RCV000188006] |
Chr8:132480460..132480477 [GRCh38]
Chr8:133492707..133492724 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.-13G>C |
single nucleotide variant |
not specified [RCV000187960] |
Chr8:132480545 [GRCh38]
Chr8:133492792 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.35C>T (p.Ala12Val) |
single nucleotide variant |
Benign neonatal seizures [RCV000806133]|not provided [RCV001354323]|not specified [RCV000187961] |
Chr8:132480498 [GRCh38]
Chr8:133492745 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.330G>C (p.Leu110Phe) |
single nucleotide variant |
Benign neonatal seizures [RCV003748204]|not provided [RCV000187963] |
Chr8:132480203 [GRCh38]
Chr8:133492450 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.569G>A (p.Arg190Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV001852467]|Inborn genetic diseases [RCV002516995]|KCNQ3-related disorder [RCV003955124]|not provided [RCV000187965] |
Chr8:132184276 [GRCh38]
Chr8:133196523 [GRCh37]
Chr8:8q24.22 |
likely pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.679C>T (p.Arg227Ter) |
single nucleotide variant |
Benign neonatal seizures [RCV001225359]|not provided [RCV000187966] |
Chr8:132180255 [GRCh38]
Chr8:133192502 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) |
single nucleotide variant |
Autistic behavior [RCV001263326]|Benign neonatal seizures [RCV001042557]|Intellectual disability [RCV001249311]|Intellectual disability [RCV001257743]|Intellectual disability, severe [RCV003223394]|KCNQ3-related developmental disability [RCV002273976]|Seizures, benign familial infantile, 5 [RCV000824975]|Seizures, benign familial neonatal, 2 [RCV000210407]|Severe neurodevelopmental delay [RCV000824686]|not provided [RCV000187968] |
Chr8:132180246 [GRCh38]
Chr8:133192493 [GRCh37]
Chr8:8q24.22 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_004519.4(KCNQ3):c.797A>G (p.Tyr266Cys) |
single nucleotide variant |
not provided [RCV000187969] |
Chr8:132175589 [GRCh38]
Chr8:133187836 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NM_004519.4(KCNQ3):c.917C>T (p.Ala306Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001852468]|not provided [RCV000187971] |
Chr8:132175469 [GRCh38]
Chr8:133187716 [GRCh37]
Chr8:8q24.22 |
pathogenic|likely pathogenic |
| NM_004519.4(KCNQ3):c.1043C>T (p.Ala348Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001347573]|not provided [RCV000187972] |
Chr8:132174240 [GRCh38]
Chr8:133186487 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1060G>T (p.Gly354Trp) |
single nucleotide variant |
not provided [RCV000187973] |
Chr8:132172678 [GRCh38]
Chr8:133184925 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1591A>G (p.Lys531Glu) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001808467]|not provided [RCV000187979] |
Chr8:132137994 [GRCh38]
Chr8:133150241 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2194G>A (p.Ala732Thr) |
single nucleotide variant |
not provided [RCV000187993] |
Chr8:132129687 [GRCh38]
Chr8:133141934 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.13G>A (p.Ala5Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV002913130] |
Chr8:132480520 [GRCh38]
Chr8:133492767 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1715dup (p.Thr573fs) |
duplication |
not provided [RCV000188004] |
Chr8:132134373..132134374 [GRCh38]
Chr8:133146620..133146621 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.63_71dup (p.Gly22_Gly24dup) |
duplication |
Benign neonatal seizures [RCV001061835]|not specified [RCV000188007] |
Chr8:132480461..132480462 [GRCh38]
Chr8:133492708..133492709 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1391T>C (p.Val464Ala) |
single nucleotide variant |
Benign neonatal seizures [RCV000476683]|Intellectual disability [RCV001252270]|not provided [RCV001705017] |
Chr8:132141203 [GRCh38]
Chr8:133153450 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1568+14G>A |
single nucleotide variant |
Benign neonatal seizures [RCV001857622]|Seizures, benign familial neonatal, 2 [RCV001164533]|not specified [RCV000187957] |
Chr8:132140062 [GRCh38]
Chr8:133152309 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.2491C>T (p.Arg831Trp) |
single nucleotide variant |
Benign neonatal seizures [RCV000861903]|Inborn genetic diseases [RCV002314725]|not provided [RCV001721203]|not specified [RCV000187959] |
Chr8:132129390 [GRCh38]
Chr8:133141637 [GRCh37]
Chr8:8q24.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.225C>G (p.Asp75Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV000647892]|Inborn genetic diseases [RCV002317112]|not provided [RCV004706621]|not specified [RCV000187962] |
Chr8:132480308 [GRCh38]
Chr8:133492555 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.477+5G>A |
single nucleotide variant |
not provided [RCV000187964] |
Chr8:132186086 [GRCh38]
Chr8:133198333 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1077G>A (p.Val359=) |
single nucleotide variant |
Benign neonatal seizures [RCV001078569]|not provided [RCV000187967] |
Chr8:132172661 [GRCh38]
Chr8:133184908 [GRCh37]
Chr8:8q24.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.856G>A (p.Val286Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV000647889]|not provided [RCV000187970] |
Chr8:132175530 [GRCh38]
Chr8:133187777 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1216G>A (p.Val406Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV000647893]|Inborn genetic diseases [RCV002317113]|Seizures, benign familial neonatal, 2 [RCV001159605]|not provided [RCV001705018] |
Chr8:132170353 [GRCh38]
Chr8:133182600 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV000477245]|Seizures, benign familial neonatal, 2 [RCV000765990]|not provided [RCV000725748] |
Chr8:132170343 [GRCh38]
Chr8:133182590 [GRCh37]
Chr8:8q24.22 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.1421C>T (p.Thr474Met) |
single nucleotide variant |
Benign neonatal seizures [RCV001069993]|Seizures, benign familial neonatal, 2 [RCV001159603]|not provided [RCV000187976] |
Chr8:132141173 [GRCh38]
Chr8:133153420 [GRCh37]
Chr8:8q24.22 |
benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1507G>A (p.Gly503Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV000360958]|Seizures, benign familial neonatal, 2 [RCV000301786]|not provided [RCV000187977] |
Chr8:132140137 [GRCh38]
Chr8:133152384 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1538C>T (p.Pro513Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV001852469]|not provided [RCV000187978] |
Chr8:132140106 [GRCh38]
Chr8:133152353 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1709T>C (p.Met570Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV001852470]|Inborn genetic diseases [RCV002399698]|Seizures, benign familial neonatal, 2 [RCV001162487]|not provided [RCV000712132] |
Chr8:132134380 [GRCh38]
Chr8:133146627 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1720C>A (p.Pro574Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV001211061]|Inborn genetic diseases [RCV000622336]|Seizures, benign familial neonatal, 2 [RCV003333741]|not provided [RCV000187981] |
Chr8:132134369 [GRCh38]
Chr8:133146616 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1844A>G (p.Asp615Gly) |
single nucleotide variant |
Benign neonatal seizures [RCV001040648] |
Chr8:132132220 [GRCh38]
Chr8:133144467 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1850G>C (p.Ser617Thr) |
single nucleotide variant |
not provided [RCV000187984] |
Chr8:132132214 [GRCh38]
Chr8:133144461 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1885G>T (p.Val629Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002408841]|not provided [RCV000187985] |
Chr8:132129996 [GRCh38]
Chr8:133142243 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1958A>G (p.Gln653Arg) |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000378150]|Benign neonatal seizures [RCV000283809]|Inborn genetic diseases [RCV002317114]|Seizures, benign familial neonatal, 2 [RCV001095231]|not provided [RCV003436978]|not specified [RCV000187986] |
Chr8:132129923 [GRCh38]
Chr8:133142170 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.2005G>A (p.Ala669Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV000551620] |
Chr8:132129876 [GRCh38]
Chr8:133142123 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2071G>A (p.Gly691Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV000275862]|Inborn genetic diseases [RCV002415808]|Seizures, benign familial neonatal, 2 [RCV000370281]|not provided [RCV001721204] |
Chr8:132129810 [GRCh38]
Chr8:133142057 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.2128T>C (p.Tyr710His) |
single nucleotide variant |
Benign neonatal seizures [RCV001082003]|Inborn genetic diseases [RCV002415809]|not provided [RCV000187990] |
Chr8:132129753 [GRCh38]
Chr8:133142000 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.2144A>G (p.His715Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV001232845]|Inborn genetic diseases [RCV002517874]|not provided [RCV000416041] |
Chr8:132129737 [GRCh38]
Chr8:133141984 [GRCh37]
Chr8:8q24.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.2146G>C (p.Asp716His) |
single nucleotide variant |
Benign neonatal seizures [RCV000797329]|not provided [RCV000187992] |
Chr8:132129735 [GRCh38]
Chr8:133141982 [GRCh37]
Chr8:8q24.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV000285383]|Childhood epilepsy with centrotemporal spikes [RCV000656017]|Inborn genetic diseases [RCV002317115]|KCNQ3-related disorder [RCV003977498]|Seizures, benign familial neonatal, 2 [RCV000407786]|not provided [RCV000858271] |
Chr8:132129618 [GRCh38]
Chr8:133141865 [GRCh37]
Chr8:8q24.22 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.2318G>A (p.Arg773Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV000792890]|not provided [RCV000187995] |
Chr8:132129563 [GRCh38]
Chr8:133141810 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV000278630]|Inborn genetic diseases [RCV002317116]|Seizures, benign familial neonatal, 2 [RCV000388137]|not provided [RCV000725514] |
Chr8:132129551 [GRCh38]
Chr8:133141798 [GRCh37]
Chr8:8q24.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.2339G>A (p.Arg780His) |
single nucleotide variant |
Benign neonatal seizures [RCV001359968] |
Chr8:132129542 [GRCh38]
Chr8:133141789 [GRCh37]
Chr8:8q24.22 |
likely pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.2351G>A (p.Arg784Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV002514019]|not provided [RCV000187998] |
Chr8:132129530 [GRCh38]
Chr8:133141777 [GRCh37]
Chr8:8q24.22 |
likely pathogenic|likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.2383G>A (p.Val795Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV000532568]|not provided [RCV000187999] |
Chr8:132129498 [GRCh38]
Chr8:133141745 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2443G>T (p.Asp815Tyr) |
single nucleotide variant |
Benign neonatal seizures [RCV000647887]|not provided [RCV000188000]|not specified [RCV002228820] |
Chr8:132129438 [GRCh38]
Chr8:133141685 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val) |
single nucleotide variant |
Benign neonatal seizures [RCV000799369]|Inborn genetic diseases [RCV003165422]|Seizures, benign familial neonatal, 2 [RCV000765987]|not provided [RCV000188001] |
Chr8:132129267 [GRCh38]
Chr8:133141514 [GRCh37]
Chr8:8q24.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.98C>G (p.Ala33Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003353439] |
Chr8:132480435 [GRCh38]
Chr8:133492682 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.562C>T (p.Arg188Trp) |
single nucleotide variant |
Benign neonatal seizures [RCV003586164]|not provided [RCV000188008] |
Chr8:132184283 [GRCh38]
Chr8:133196530 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV000471330]|Childhood epilepsy with centrotemporal spikes [RCV000656018]|Inborn genetic diseases [RCV002408842]|Seizures, benign familial neonatal, 2 [RCV000765988]|not provided [RCV000767106]|not specified [RCV000188010] |
Chr8:132129996 [GRCh38]
Chr8:133142243 [GRCh37]
Chr8:8q24.22 |
pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.1548G>A (p.Lys516=) |
single nucleotide variant |
Benign neonatal seizures [RCV000547782] |
Chr8:132140096 [GRCh38]
Chr8:133152343 [GRCh37]
Chr8:8q24.22 |
likely benign |
| GRCh37/hg19 8q24.22(chr8:132005210-133698781)x3 |
copy number gain |
See cases [RCV000515570] |
Chr8:132005210..133698781 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2079G>A (p.Pro693=) |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000402698]|Benign neonatal seizures [RCV000231115]|Seizures, benign familial neonatal, 2 [RCV001095194]|not provided [RCV001722241] |
Chr8:132129802 [GRCh38]
Chr8:133142049 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.1249_1250delinsAT (p.Glu417Met) |
indel |
Benign neonatal seizures [RCV001853644]|Seizures, benign familial neonatal, 2 [RCV000765989]|not specified [RCV000519627] |
Chr8:132163480..132163481 [GRCh38]
Chr8:133175727..133175728 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.386+15G>T |
single nucleotide variant |
Benign neonatal seizures [RCV002064350]|not specified [RCV000606363] |
Chr8:132480132 [GRCh38]
Chr8:133492379 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1799G>A (p.Arg600Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV000547984] |
Chr8:132134290 [GRCh38]
Chr8:133146537 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*7689A>G |
single nucleotide variant |
Benign neonatal seizures [RCV000327750]|Seizures, benign familial neonatal, 2 [RCV000270279] |
Chr8:132121573 [GRCh38]
Chr8:133133820 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*5761C>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000277922]|Seizures, benign familial neonatal, 2 [RCV000363209] |
Chr8:132123501 [GRCh38]
Chr8:133135748 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*7075A>G |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000352720]|Seizures, benign familial neonatal, 2 [RCV000405641]|not provided [RCV004712494] |
Chr8:132122187 [GRCh38]
Chr8:133134434 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*3261C>T |
single nucleotide variant |
Benign neonatal seizures [RCV000360632]|Seizures, benign familial neonatal, 2 [RCV000267750] |
Chr8:132126001 [GRCh38]
Chr8:133138248 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.*5932A>C |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000301653]|Seizures, benign familial neonatal, 2 [RCV000347178]|not provided [RCV004712503] |
Chr8:132123330 [GRCh38]
Chr8:133135577 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*426C>G |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000301583]|Seizures, benign familial neonatal, 2 [RCV000361031]|not provided [RCV004712515] |
Chr8:132128836 [GRCh38]
Chr8:133141083 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*4316del |
deletion |
Benign Neonatal Epilepsy [RCV000301736]|Benign neonatal seizures [RCV000358850] |
Chr8:132124946 [GRCh38]
Chr8:133137193 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.*1697C>G |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000343865]|Seizures, benign familial neonatal, 2 [RCV000310079]|not provided [RCV004707191] |
Chr8:132127565 [GRCh38]
Chr8:133139812 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.1737G>A (p.Thr579=) |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000344181]|Benign neonatal seizures [RCV001442986]|Seizures, benign familial neonatal, 2 [RCV000289759] |
Chr8:132134352 [GRCh38]
Chr8:133146599 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.*3591T>C |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000344098]|Seizures, benign familial neonatal, 2 [RCV000291521]|not provided [RCV003437134] |
Chr8:132125671 [GRCh38]
Chr8:133137918 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.2262C>T (p.Leu754=) |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000345087]|Benign neonatal seizures [RCV002058703]|Seizures, benign familial neonatal, 2 [RCV000407791] |
Chr8:132129619 [GRCh38]
Chr8:133141866 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*3731G>T |
single nucleotide variant |
Benign neonatal seizures [RCV000261742]|Seizures, benign familial neonatal, 2 [RCV000368114] |
Chr8:132125531 [GRCh38]
Chr8:133137778 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*1159G>A |
single nucleotide variant |
Benign neonatal seizures [RCV000345022]|Seizures, benign familial neonatal, 2 [RCV000285330] |
Chr8:132128103 [GRCh38]
Chr8:133140350 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*2475C>T |
single nucleotide variant |
Benign neonatal seizures [RCV000406092]|Seizures, benign familial neonatal, 2 [RCV000303311]|not provided [RCV004712512] |
Chr8:132126787 [GRCh38]
Chr8:133139034 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*4982A>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000323026]|Seizures, benign familial neonatal, 2 [RCV000267950] |
Chr8:132124280 [GRCh38]
Chr8:133136527 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*1582C>T |
single nucleotide variant |
Benign neonatal seizures [RCV000273847]|Seizures, benign familial neonatal, 2 [RCV000370672] |
Chr8:132127680 [GRCh38]
Chr8:133139927 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*5578A>G |
single nucleotide variant |
Benign neonatal seizures [RCV000380186]|Seizures, benign familial neonatal, 2 [RCV000316329] |
Chr8:132123684 [GRCh38]
Chr8:133135931 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*6956A>G |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000354805]|Seizures, benign familial neonatal, 2 [RCV000259863]|not provided [RCV004712496] |
Chr8:132122306 [GRCh38]
Chr8:133134553 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.-54C>G |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000269051]|Seizures, benign familial neonatal, 2 [RCV000361341] |
Chr8:132480586 [GRCh38]
Chr8:133492833 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*6267T>C |
single nucleotide variant |
Benign neonatal seizures [RCV000333811]|Seizures, benign familial neonatal, 2 [RCV000269346] |
Chr8:132122995 [GRCh38]
Chr8:133135242 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.*4243A>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000269907]|Seizures, benign familial neonatal, 2 [RCV000362145]|not provided [RCV004712506] |
Chr8:132125019 [GRCh38]
Chr8:133137266 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*7214G>A |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000323462]|Seizures, benign familial neonatal, 2 [RCV000266068] |
Chr8:132122048 [GRCh38]
Chr8:133134295 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*6874C>G |
single nucleotide variant |
Benign neonatal seizures [RCV000360374]|Seizures, benign familial neonatal, 2 [RCV000324405]|not provided [RCV004712497] |
Chr8:132122388 [GRCh38]
Chr8:133134635 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*7119C>T |
single nucleotide variant |
Benign neonatal seizures [RCV000282775]|Seizures, benign familial neonatal, 2 [RCV000347079]|not provided [RCV004712493] |
Chr8:132122143 [GRCh38]
Chr8:133134390 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*2137C>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000371607]|Seizures, benign familial neonatal, 2 [RCV000319204]|not provided [RCV004712513] |
Chr8:132127125 [GRCh38]
Chr8:133139372 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*3701G>A |
single nucleotide variant |
Benign neonatal seizures [RCV000319159]|Seizures, benign familial neonatal, 2 [RCV000371535] |
Chr8:132125561 [GRCh38]
Chr8:133137808 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*6174A>G |
single nucleotide variant |
Benign neonatal seizures [RCV000287179]|Seizures, benign familial neonatal, 2 [RCV000372329] |
Chr8:132123088 [GRCh38]
Chr8:133135335 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*4817G>A |
single nucleotide variant |
Benign neonatal seizures [RCV000289098]|Seizures, benign familial neonatal, 2 [RCV000325334]|not provided [RCV003437133] |
Chr8:132124445 [GRCh38]
Chr8:133136692 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*3303C>A |
single nucleotide variant |
Benign neonatal seizures [RCV000406338]|Seizures, benign familial neonatal, 2 [RCV000348919] |
Chr8:132125959 [GRCh38]
Chr8:133138206 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*6351A>G |
single nucleotide variant |
Benign neonatal seizures [RCV000304422]|Seizures, benign familial neonatal, 2 [RCV000402978] |
Chr8:132122911 [GRCh38]
Chr8:133135158 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*7095T>G |
single nucleotide variant |
Benign neonatal seizures [RCV000403603]|Seizures, benign familial neonatal, 2 [RCV000288577] |
Chr8:132122167 [GRCh38]
Chr8:133134414 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*6632T>C |
single nucleotide variant |
Benign neonatal seizures [RCV000380982]|Seizures, benign familial neonatal, 2 [RCV000326403]|not provided [RCV004712499] |
Chr8:132122630 [GRCh38]
Chr8:133134877 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*7131G>A |
single nucleotide variant |
Benign neonatal seizures [RCV000317805]|Seizures, benign familial neonatal, 2 [RCV000374779]|not provided [RCV004712492] |
Chr8:132122131 [GRCh38]
Chr8:133134378 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*6460C>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000404866]|Seizures, benign familial neonatal, 2 [RCV000337810] |
Chr8:132122802 [GRCh38]
Chr8:133135049 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.-85C>T |
single nucleotide variant |
Benign neonatal seizures [RCV000329845]|Seizures, benign familial neonatal, 2 [RCV000272371]|not provided [RCV001584088] |
Chr8:132480617 [GRCh38]
Chr8:133492864 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*396A>G |
single nucleotide variant |
Benign neonatal seizures [RCV000362474]|Seizures, benign familial neonatal, 2 [RCV000272472]|not provided [RCV004712517] |
Chr8:132128866 [GRCh38]
Chr8:133141113 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*5762G>A |
single nucleotide variant |
Benign neonatal seizures [RCV000402471]|Seizures, benign familial neonatal, 2 [RCV000307452] |
Chr8:132123500 [GRCh38]
Chr8:133135747 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.-65C>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000307788]|Seizures, benign familial neonatal, 2 [RCV000364600]|not provided [RCV001555366] |
Chr8:132480597 [GRCh38]
Chr8:133492844 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*4949G>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000328695]|Seizures, benign familial neonatal, 2 [RCV000383314]|not provided [RCV003437132] |
Chr8:132124313 [GRCh38]
Chr8:133136560 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1700+3G>A |
single nucleotide variant |
Benign neonatal seizures [RCV000391656]|Inborn genetic diseases [RCV002311432]|Seizures, benign familial neonatal, 2 [RCV000350442]|not provided [RCV000514671] |
Chr8:132137882 [GRCh38]
Chr8:133150129 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004519.4(KCNQ3):c.*5391C>T |
single nucleotide variant |
Benign neonatal seizures [RCV000295962]|Seizures, benign familial neonatal, 2 [RCV000350893]|not provided [RCV003437131] |
Chr8:132123871 [GRCh38]
Chr8:133136118 [GRCh37]
Chr8:8q24.22 |
benign|likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.-142G>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000377454]|Seizures, benign familial neonatal, 2 [RCV000320450]|not provided [RCV000829747] |
Chr8:132480674 [GRCh38]
Chr8:133492921 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*6812A>G |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000290604]|Seizures, benign familial neonatal, 2 [RCV000384866]|not provided [RCV004712498] |
Chr8:132122450 [GRCh38]
Chr8:133134697 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*3823G>A |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000308231]|Seizures, benign familial neonatal, 2 [RCV000369941]|not provided [RCV004707189] |
Chr8:132125439 [GRCh38]
Chr8:133137686 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*7221C>T |
single nucleotide variant |
Benign neonatal seizures [RCV000358302]|Seizures, benign familial neonatal, 2 [RCV000329099]|not provided [RCV004712490] |
Chr8:132122041 [GRCh38]
Chr8:133134288 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*828T>C |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000351841]|Seizures, benign familial neonatal, 2 [RCV000310989] |
Chr8:132128434 [GRCh38]
Chr8:133140681 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.*7506C>T |
single nucleotide variant |
Benign neonatal seizures [RCV000378860]|Seizures, benign familial neonatal, 2 [RCV000340625]|not provided [RCV004712489] |
Chr8:132121756 [GRCh38]
Chr8:133134003 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*5482A>G |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000291742]|Seizures, benign familial neonatal, 2 [RCV000376850] |
Chr8:132123780 [GRCh38]
Chr8:133136027 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*3957A>G |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000309221]|Seizures, benign familial neonatal, 2 [RCV000405316] |
Chr8:132125305 [GRCh38]
Chr8:133137552 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*4258T>C |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000309873]|Seizures, benign familial neonatal, 2 [RCV000271074]|not provided [RCV004705452] |
Chr8:132125004 [GRCh38]
Chr8:133137251 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.1995G>T (p.Ser665=) |
single nucleotide variant |
Benign neonatal seizures [RCV000316948]|Seizures, benign familial neonatal, 2 [RCV000353890] |
Chr8:132129886 [GRCh38]
Chr8:133142133 [GRCh37]
Chr8:8q24.22 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.*1383C>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000379809]|Seizures, benign familial neonatal, 2 [RCV000320570] |
Chr8:132127879 [GRCh38]
Chr8:133140126 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*7143A>G |
single nucleotide variant |
Benign neonatal seizures [RCV000279047]|Seizures, benign familial neonatal, 2 [RCV000380491]|not provided [RCV004712491] |
Chr8:132122119 [GRCh38]
Chr8:133134366 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*3165G>T |
single nucleotide variant |
Benign neonatal seizures [RCV000288614]|Seizures, benign familial neonatal, 2 [RCV000380759] |
Chr8:132126097 [GRCh38]
Chr8:133138344 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*2876C>G |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000402489]|Seizures, benign familial neonatal, 2 [RCV000335407] |
Chr8:132126386 [GRCh38]
Chr8:133138633 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*6238T>C |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000275129]|Seizures, benign familial neonatal, 2 [RCV000388249]|not provided [RCV004712502] |
Chr8:132123024 [GRCh38]
Chr8:133135271 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*4043C>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000275605]|Seizures, benign familial neonatal, 2 [RCV000319065] |
Chr8:132125219 [GRCh38]
Chr8:133137466 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*5255T>C |
single nucleotide variant |
Benign neonatal seizures [RCV000406298]|Seizures, benign familial neonatal, 2 [RCV000311057]|not provided [RCV004707188] |
Chr8:132124007 [GRCh38]
Chr8:133136254 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*3035A>G |
single nucleotide variant |
Benign neonatal seizures [RCV000388882]|Seizures, benign familial neonatal, 2 [RCV000332027]|not provided [RCV004712510] |
Chr8:132126227 [GRCh38]
Chr8:133138474 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*5018C>G |
single nucleotide variant |
Benign neonatal seizures [RCV000397530]|Seizures, benign familial neonatal, 2 [RCV000356482] |
Chr8:132124244 [GRCh38]
Chr8:133136491 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*1676T>C |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000403800]|Seizures, benign familial neonatal, 2 [RCV000313787] |
Chr8:132127586 [GRCh38]
Chr8:133139833 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.*3897C>G |
single nucleotide variant |
Benign neonatal seizures [RCV000347870]|Seizures, benign familial neonatal, 2 [RCV000403983] |
Chr8:132125365 [GRCh38]
Chr8:133137612 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*5965T>C |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000404383]|Seizures, benign familial neonatal, 2 [RCV000342195]|not provided [RCV003311791] |
Chr8:132123297 [GRCh38]
Chr8:133135544 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.-138T>G |
single nucleotide variant |
Benign neonatal seizures [RCV000317751]|Seizures, benign familial neonatal, 2 [RCV000260089]|not provided [RCV000829956] |
Chr8:132480670 [GRCh38]
Chr8:133492917 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.*3032A>G |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000293171]|Seizures, benign familial neonatal, 2 [RCV000350482]|not provided [RCV004712511] |
Chr8:132126230 [GRCh38]
Chr8:133138477 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*7722T>A |
single nucleotide variant |
Benign neonatal seizures [RCV000381064]|Seizures, benign familial neonatal, 2 [RCV000333531] |
Chr8:132121540 [GRCh38]
Chr8:133133787 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*3280G>C |
single nucleotide variant |
Benign neonatal seizures [RCV000299900]|Seizures, benign familial neonatal, 2 [RCV000357039] |
Chr8:132125982 [GRCh38]
Chr8:133138229 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.*717CA[17] |
microsatellite |
Benign Neonatal Epilepsy [RCV000383690]|Benign neonatal seizures [RCV000294292] |
Chr8:132128508..132128511 [GRCh38]
Chr8:133140755..133140758 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*7464C>A |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000405900]|Seizures, benign familial neonatal, 2 [RCV000280690]|not provided [RCV004707186] |
Chr8:132121798 [GRCh38]
Chr8:133134045 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*3262G>A |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000405603]|Seizures, benign familial neonatal, 2 [RCV000298815] |
Chr8:132126000 [GRCh38]
Chr8:133138247 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*425C>A |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000406582]|Seizures, benign familial neonatal, 2 [RCV000307828]|not provided [RCV004712516] |
Chr8:132128837 [GRCh38]
Chr8:133141084 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*7033T>C |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000313012]|Seizures, benign familial neonatal, 2 [RCV000367650]|not provided [RCV004712495] |
Chr8:132122229 [GRCh38]
Chr8:133134476 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*3544A>G |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000313726]|Seizures, benign familial neonatal, 2 [RCV000392606] |
Chr8:132125718 [GRCh38]
Chr8:133137965 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*7504C>G |
single nucleotide variant |
Benign neonatal seizures [RCV000286693]|Seizures, benign familial neonatal, 2 [RCV000334774] |
Chr8:132121758 [GRCh38]
Chr8:133134005 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*6199C>T |
single nucleotide variant |
Benign neonatal seizures [RCV000281222]|Seizures, benign familial neonatal, 2 [RCV000336242] |
Chr8:132123063 [GRCh38]
Chr8:133135310 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.132G>C (p.Gly44=) |
single nucleotide variant |
Benign neonatal seizures [RCV000304281]|Seizures, benign familial neonatal, 2 [RCV000406788] |
Chr8:132480401 [GRCh38]
Chr8:133492648 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*4736G>A |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000406854]|Seizures, benign familial neonatal, 2 [RCV000349999] |
Chr8:132124526 [GRCh38]
Chr8:133136773 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*4027G>A |
single nucleotide variant |
Benign neonatal seizures [RCV000375759]|Seizures, benign familial neonatal, 2 [RCV000279133] |
Chr8:132125235 [GRCh38]
Chr8:133137482 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.*6607A>G |
single nucleotide variant |
Benign neonatal seizures [RCV000350976]|Seizures, benign familial neonatal, 2 [RCV000296042] |
Chr8:132122655 [GRCh38]
Chr8:133134902 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*5719C>T |
single nucleotide variant |
Benign neonatal seizures [RCV000369033]|Seizures, benign familial neonatal, 2 [RCV000314411]|not provided [RCV004712504] |
Chr8:132123543 [GRCh38]
Chr8:133135790 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*4125T>C |
single nucleotide variant |
Benign neonatal seizures [RCV000334216]|Seizures, benign familial neonatal, 2 [RCV000386323]|not provided [RCV004712507] |
Chr8:132125137 [GRCh38]
Chr8:133137384 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*1407A>C |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000263407]|Seizures, benign familial neonatal, 2 [RCV000316317] |
Chr8:132127855 [GRCh38]
Chr8:133140102 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1656C>T (p.Ala552=) |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000315403]|Benign neonatal seizures [RCV000351439]|Inborn genetic diseases [RCV002402076] |
Chr8:132137929 [GRCh38]
Chr8:133150176 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.*7413G>C |
single nucleotide variant |
Benign neonatal seizures [RCV000405060]|Seizures, benign familial neonatal, 2 [RCV000338198]|not provided [RCV004707187] |
Chr8:132121849 [GRCh38]
Chr8:133134096 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*2847T>C |
single nucleotide variant |
Benign neonatal seizures [RCV000304931]|Seizures, benign familial neonatal, 2 [RCV000361978]|not provided [RCV004705453] |
Chr8:132126415 [GRCh38]
Chr8:133138662 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*7371T>G |
single nucleotide variant |
Benign neonatal seizures [RCV000312836]|Seizures, benign familial neonatal, 2 [RCV000369895] |
Chr8:132121891 [GRCh38]
Chr8:133134138 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*6340G>A |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000264257]|Seizures, benign familial neonatal, 2 [RCV000359034]|not provided [RCV004712500] |
Chr8:132122922 [GRCh38]
Chr8:133135169 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*4958A>G |
single nucleotide variant |
Benign neonatal seizures [RCV000359207]|Seizures, benign familial neonatal, 2 [RCV000264487]|not provided [RCV004712505] |
Chr8:132124304 [GRCh38]
Chr8:133136551 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*2166A>G |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000280663]|Seizures, benign familial neonatal, 2 [RCV000386708]|not provided [RCV004707190] |
Chr8:132127096 [GRCh38]
Chr8:133139343 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*4982del |
deletion |
Benign Neonatal Epilepsy [RCV000298041]|Benign neonatal seizures [RCV000352946] |
Chr8:132124280 [GRCh38]
Chr8:133136527 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*6446del |
deletion |
Benign Neonatal Epilepsy [RCV000298526]|Benign neonatal seizures [RCV000334819] |
Chr8:132122816 [GRCh38]
Chr8:133135063 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.*3977G>A |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000339629]|Seizures, benign familial neonatal, 2 [RCV000286936]|not provided [RCV004712508] |
Chr8:132125285 [GRCh38]
Chr8:133137532 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*1754C>T |
single nucleotide variant |
Benign neonatal seizures [RCV000391929]|Seizures, benign familial neonatal, 2 [RCV000340516]|not provided [RCV004711017] |
Chr8:132127508 [GRCh38]
Chr8:133139755 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*3597G>A |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000340577]|Seizures, benign familial neonatal, 2 [RCV000383538]|not provided [RCV004712509] |
Chr8:132125665 [GRCh38]
Chr8:133137912 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*2271T>A |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000364033]|Seizures, benign familial neonatal, 2 [RCV000325647] |
Chr8:132126991 [GRCh38]
Chr8:133139238 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*4746_*4747insACAG |
insertion |
Benign Neonatal Epilepsy [RCV000389474]|Benign neonatal seizures [RCV000295226] |
Chr8:132124515..132124516 [GRCh38]
Chr8:133136762..133136763 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*1384G>A |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000265508]|Seizures, benign familial neonatal, 2 [RCV000373312] |
Chr8:132127878 [GRCh38]
Chr8:133140125 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.*6282A>T |
single nucleotide variant |
Benign neonatal seizures [RCV000310129]|Seizures, benign familial neonatal, 2 [RCV000364829]|not provided [RCV004712501] |
Chr8:132122980 [GRCh38]
Chr8:133135227 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.2165G>A (p.Arg722Gln) |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000364676]|Benign neonatal seizures [RCV001241135]|Seizures, benign familial neonatal, 2 [RCV000309906] |
Chr8:132129716 [GRCh38]
Chr8:133141963 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*6831G>A |
single nucleotide variant |
Benign neonatal seizures [RCV000321076]|Seizures, benign familial neonatal, 2 [RCV000265945]|not provided [RCV003311790] |
Chr8:132122431 [GRCh38]
Chr8:133134678 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.*4551T>C |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000282389]|Seizures, benign familial neonatal, 2 [RCV000337324] |
Chr8:132124711 [GRCh38]
Chr8:133136958 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.*2010T>A |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000282836]|Seizures, benign familial neonatal, 2 [RCV000391928]|not provided [RCV003437135] |
Chr8:132127252 [GRCh38]
Chr8:133139499 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*8148G>A |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000301153]|Seizures, benign familial neonatal, 2 [RCV000262306]|not provided [RCV004712488] |
Chr8:132121114 [GRCh38]
Chr8:133133361 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*5704C>T |
single nucleotide variant |
Benign neonatal seizures [RCV000274207]|Seizures, benign familial neonatal, 2 [RCV000319979] |
Chr8:132123558 [GRCh38]
Chr8:133135805 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*1050A>C |
single nucleotide variant |
Benign neonatal seizures [RCV000345940]|Seizures, benign familial neonatal, 2 [RCV000392554]|not provided [RCV004712514] |
Chr8:132128212 [GRCh38]
Chr8:133140459 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*7331A>G |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000393226]|Seizures, benign familial neonatal, 2 [RCV000306845] |
Chr8:132121931 [GRCh38]
Chr8:133134178 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.*3216G>C |
single nucleotide variant |
Benign neonatal seizures [RCV000328571]|Seizures, benign familial neonatal, 2 [RCV000271139] |
Chr8:132126046 [GRCh38]
Chr8:133138293 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*732A>G |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000406886]|Seizures, benign familial neonatal, 2 [RCV000281829] |
Chr8:132128530 [GRCh38]
Chr8:133140777 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*3692T>C |
single nucleotide variant |
Benign neonatal seizures [RCV000322644]|Seizures, benign familial neonatal, 2 [RCV000260477] |
Chr8:132125570 [GRCh38]
Chr8:133137817 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*7243C>G |
single nucleotide variant |
Benign neonatal seizures [RCV000364100]|Seizures, benign familial neonatal, 2 [RCV000271845] |
Chr8:132122019 [GRCh38]
Chr8:133134266 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*2921T>C |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000282445]|Seizures, benign familial neonatal, 2 [RCV000392992] |
Chr8:132126341 [GRCh38]
Chr8:133138588 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*5580G>A |
single nucleotide variant |
Benign neonatal seizures [RCV000261395]|Seizures, benign familial neonatal, 2 [RCV000356148] |
Chr8:132123682 [GRCh38]
Chr8:133135929 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*2385_*2388del |
deletion |
Benign Neonatal Epilepsy [RCV000365103]|Benign neonatal seizures [RCV000272873] |
Chr8:132126874..132126877 [GRCh38]
Chr8:133139121..133139124 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*7512T>G |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000282719]|Seizures, benign familial neonatal, 2 [RCV000384652] |
Chr8:132121750 [GRCh38]
Chr8:133133997 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*3672C>T |
single nucleotide variant |
Benign neonatal seizures [RCV000283210]|Seizures, benign familial neonatal, 2 [RCV000380008] |
Chr8:132125590 [GRCh38]
Chr8:133137837 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.-139dup |
duplication |
Benign Neonatal Epilepsy [RCV000310875]|Benign neonatal seizures [RCV000407602]|not provided [RCV001653732] |
Chr8:132480670..132480671 [GRCh38]
Chr8:133492917..133492918 [GRCh37]
Chr8:8q24.22 |
benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1531A>G (p.Met511Val) |
single nucleotide variant |
Benign neonatal seizures [RCV003748215]|not provided [RCV002261027]|not specified [RCV000278507] |
Chr8:132140113 [GRCh38]
Chr8:133152360 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1458T>A (p.Ser486Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV002518969]|not provided [RCV000280257] |
Chr8:132141136 [GRCh38]
Chr8:133153383 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.-140_-139insTG |
insertion |
Benign Neonatal Epilepsy [RCV000262888]|Benign neonatal seizures [RCV000356150] |
Chr8:132480671..132480672 [GRCh38]
Chr8:133492918..133492919 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*755_*760del |
deletion |
Benign Neonatal Epilepsy [RCV000262494]|Benign neonatal seizures [RCV000357302] |
Chr8:132128502..132128507 [GRCh38]
Chr8:133140749..133140754 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1471G>A (p.Gly491Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV000704485]|Inborn genetic diseases [RCV002392791]|not provided [RCV000389265] |
Chr8:132140173 [GRCh38]
Chr8:133152420 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1980C>A (p.Thr660=) |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000318804]|Seizures, benign familial neonatal, 2 [RCV000263732] |
Chr8:132129901 [GRCh38]
Chr8:133142148 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.-140_-139dup |
duplication |
Benign Neonatal Epilepsy [RCV000367865]|Benign neonatal seizures [RCV000406386]|not provided [RCV001618660] |
Chr8:132480670..132480671 [GRCh38]
Chr8:133492917..133492918 [GRCh37]
Chr8:8q24.22 |
benign|uncertain significance |
| NM_004519.4(KCNQ3):c.-141_-139dup |
duplication |
Benign Neonatal Epilepsy [RCV000371203]|Benign neonatal seizures [RCV000314300]|not provided [RCV001577867] |
Chr8:132480670..132480671 [GRCh38]
Chr8:133492917..133492918 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1543C>G (p.Leu515Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001237532]|not provided [RCV000726107] |
Chr8:132140101 [GRCh38]
Chr8:133152348 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*7980dup |
duplication |
Benign Neonatal Epilepsy [RCV000368277]|Benign neonatal seizures [RCV000275990] |
Chr8:132121281..132121282 [GRCh38]
Chr8:133133528..133133529 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.-130_-129dup |
duplication |
Benign Neonatal Epilepsy [RCV000275950]|Benign neonatal seizures [RCV000386718] |
Chr8:132480660..132480661 [GRCh38]
Chr8:133492907..133492908 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*2266_*2269del |
deletion |
Benign Neonatal Epilepsy [RCV000276608]|Benign neonatal seizures [RCV000333968] |
Chr8:132126993..132126996 [GRCh38]
Chr8:133139240..133139243 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*3805C>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000311151]|Seizures, benign familial neonatal, 2 [RCV000277133] |
Chr8:132125457 [GRCh38]
Chr8:133137704 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*2013C>T |
single nucleotide variant |
Benign neonatal seizures [RCV000279260]|Seizures, benign familial neonatal, 2 [RCV000341249] |
Chr8:132127249 [GRCh38]
Chr8:133139496 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.-135_-134dup |
duplication |
Benign Neonatal Epilepsy [RCV000279416]|Benign neonatal seizures [RCV000320021] |
Chr8:132480665..132480666 [GRCh38]
Chr8:133492912..133492913 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*717CA[20] |
microsatellite |
Benign Neonatal Epilepsy [RCV000268621]|Benign neonatal seizures [RCV000323679] |
Chr8:132128507..132128508 [GRCh38]
Chr8:133140754..133140755 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2469dup (p.Ser824fs) |
duplication |
Benign neonatal seizures [RCV002518805]|not provided [RCV000335977] |
Chr8:132129411..132129412 [GRCh38]
Chr8:133141658..133141659 [GRCh37]
Chr8:8q24.22 |
pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.*717CA[23] |
microsatellite |
Benign Neonatal Epilepsy [RCV000382476]|Benign neonatal seizures [RCV000269274] |
Chr8:132128507..132128508 [GRCh38]
Chr8:133140754..133140755 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.913G>T (p.Asp305Tyr) |
single nucleotide variant |
not provided [RCV000490209] |
Chr8:132175473 [GRCh38]
Chr8:133187720 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NM_004519.4(KCNQ3):c.1529A>C (p.Asp510Ala) |
single nucleotide variant |
not provided [RCV000594611] |
Chr8:132140115 [GRCh38]
Chr8:133152362 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.924G>A (p.Trp308Ter) |
single nucleotide variant |
not provided [RCV000578676] |
Chr8:132175462 [GRCh38]
Chr8:133187709 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.387-12C>A |
single nucleotide variant |
not specified [RCV000603121] |
Chr8:132186193 [GRCh38]
Chr8:133198440 [GRCh37]
Chr8:8q24.22 |
likely benign |
| GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 |
copy number gain |
See cases [RCV002292707] |
Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.997G>C (p.Ala333Pro) |
single nucleotide variant |
not provided [RCV000488195] |
Chr8:132174286 [GRCh38]
Chr8:133186533 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*1066A>G |
single nucleotide variant |
Benign neonatal seizures [RCV000380830]|Seizures, benign familial neonatal, 2 [RCV000291179] |
Chr8:132128196 [GRCh38]
Chr8:133140443 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*4479C>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000402789]|Seizures, benign familial neonatal, 2 [RCV000361831] |
Chr8:132124783 [GRCh38]
Chr8:133137030 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.788C>T (p.Thr263Met) |
single nucleotide variant |
Benign neonatal seizures [RCV001053331]|not provided [RCV000596752] |
Chr8:132175598 [GRCh38]
Chr8:133187845 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.604+16G>A |
single nucleotide variant |
not specified [RCV000605621] |
Chr8:132184225 [GRCh38]
Chr8:133196472 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.*6461G>A |
single nucleotide variant |
Benign neonatal seizures [RCV000292210]|Seizures, benign familial neonatal, 2 [RCV000386884] |
Chr8:132122801 [GRCh38]
Chr8:133135048 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*755_*758del |
deletion |
Benign Neonatal Epilepsy [RCV000358650]|Benign neonatal seizures [RCV000303817] |
Chr8:132128504..132128507 [GRCh38]
Chr8:133140751..133140754 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*6205G>T |
single nucleotide variant |
Benign neonatal seizures [RCV000375710]|Seizures, benign familial neonatal, 2 [RCV000330425] |
Chr8:132123057 [GRCh38]
Chr8:133135304 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*5466T>A |
single nucleotide variant |
Benign neonatal seizures [RCV000393608]|Seizures, benign familial neonatal, 2 [RCV000346735] |
Chr8:132123796 [GRCh38]
Chr8:133136043 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.-134dup |
duplication |
Benign Neonatal Epilepsy [RCV000371620]|Benign neonatal seizures [RCV000333329] |
Chr8:132480665..132480666 [GRCh38]
Chr8:133492912..133492913 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1617G>C (p.Arg539Ser) |
single nucleotide variant |
not specified [RCV000517208] |
Chr8:132137968 [GRCh38]
Chr8:133150215 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.170T>C (p.Leu57Pro) |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000406790]|Benign neonatal seizures [RCV000334828] |
Chr8:132480363 [GRCh38]
Chr8:133492610 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*717CA[21] |
microsatellite |
Benign Neonatal Epilepsy [RCV000349204]|Benign neonatal seizures [RCV000389722] |
Chr8:132128507..132128508 [GRCh38]
Chr8:133140754..133140755 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2274G>A (p.Val758=) |
single nucleotide variant |
Benign neonatal seizures [RCV000339357]|Seizures, benign familial neonatal, 2 [RCV000284360] |
Chr8:132129607 [GRCh38]
Chr8:133141854 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.-136_-134dup |
duplication |
Benign Neonatal Epilepsy [RCV000377033]|Benign neonatal seizures [RCV000284935] |
Chr8:132480665..132480666 [GRCh38]
Chr8:133492912..133492913 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*743C>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000295405]|Seizures, benign familial neonatal, 2 [RCV000335648] |
Chr8:132128519 [GRCh38]
Chr8:133140766 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*3217C>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000320529]|Seizures, benign familial neonatal, 2 [RCV000358917] |
Chr8:132126045 [GRCh38]
Chr8:133138292 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.-148_-147insTG |
insertion |
Benign Neonatal Epilepsy [RCV000285110]|Benign neonatal seizures [RCV000324055]|not provided [RCV002292442] |
Chr8:132480679..132480680 [GRCh38]
Chr8:133492926..133492927 [GRCh37]
Chr8:8q24.22 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.*4008G>A |
single nucleotide variant |
Benign neonatal seizures [RCV000336502]|Seizures, benign familial neonatal, 2 [RCV000379353] |
Chr8:132125254 [GRCh38]
Chr8:133137501 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*716_*717insAACA |
insertion |
Benign Neonatal Epilepsy [RCV000407010]|Benign neonatal seizures [RCV000336825] |
Chr8:132128545..132128546 [GRCh38]
Chr8:133140792..133140793 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*5521C>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000322050]|Benign neonatal seizures [RCV000285699] |
Chr8:132123741 [GRCh38]
Chr8:133135988 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*4481C>A |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000403127]|Seizures, benign familial neonatal, 2 [RCV000297696] |
Chr8:132124781 [GRCh38]
Chr8:133137028 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*757CA[1] |
microsatellite |
Benign Neonatal Epilepsy [RCV000405404]|Benign neonatal seizures [RCV000297798] |
Chr8:132128502..132128503 [GRCh38]
Chr8:133140749..133140750 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1809A>G (p.Pro603=) |
single nucleotide variant |
Benign neonatal seizures [RCV000324838]|Seizures, benign familial neonatal, 2 [RCV000379506] |
Chr8:132132255 [GRCh38]
Chr8:133144502 [GRCh37]
Chr8:8q24.22 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.-138del |
deletion |
Benign Neonatal Epilepsy [RCV000345838]|Benign neonatal seizures [RCV000288493] |
Chr8:132480670 [GRCh38]
Chr8:133492917 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.-156C>T |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000288756]|Seizures, benign familial neonatal, 2 [RCV000380913] |
Chr8:132480688 [GRCh38]
Chr8:133492935 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*7015G>A |
single nucleotide variant |
Benign neonatal seizures [RCV000300195]|Seizures, benign familial neonatal, 2 [RCV000397458] |
Chr8:132122247 [GRCh38]
Chr8:133134494 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*1478G>A |
single nucleotide variant |
Benign neonatal seizures [RCV000355797]|Seizures, benign familial neonatal, 2 [RCV000312713] |
Chr8:132127784 [GRCh38]
Chr8:133140031 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.145G>A (p.Asp49Asn) |
single nucleotide variant |
Benign Neonatal Epilepsy [RCV000300904]|Seizures, benign familial neonatal, 2 [RCV000339411] |
Chr8:132480388 [GRCh38]
Chr8:133492635 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*717CA[18] |
microsatellite |
Benign neonatal seizures [RCV000329060] |
Chr8:132128508..132128509 [GRCh38]
Chr8:133140755..133140756 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.39C>T (p.Gly13=) |
single nucleotide variant |
Benign neonatal seizures [RCV002060340] |
Chr8:132480494 [GRCh38]
Chr8:133492741 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2550C>T (p.Ser850=) |
single nucleotide variant |
not specified [RCV000604492] |
Chr8:132129331 [GRCh38]
Chr8:133141578 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2451G>T (p.Val817=) |
single nucleotide variant |
Benign neonatal seizures [RCV002531189]|not specified [RCV000599772] |
Chr8:132129430 [GRCh38]
Chr8:133141677 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2611C>G (p.Pro871Ala) |
single nucleotide variant |
Benign neonatal seizures [RCV001044531]|Seizures, benign familial neonatal, 2 [RCV000660534]|not specified [RCV000414374] |
Chr8:132129270 [GRCh38]
Chr8:133141517 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2225T>G (p.Val742Gly) |
single nucleotide variant |
not specified [RCV000414403] |
Chr8:132129656 [GRCh38]
Chr8:133141903 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2567C>T (p.Thr856Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV002521440]|not specified [RCV000414451] |
Chr8:132129314 [GRCh38]
Chr8:133141561 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1986C>A (p.Gly662=) |
single nucleotide variant |
Benign neonatal seizures [RCV000541287]|not provided [RCV001755863] |
Chr8:132129895 [GRCh38]
Chr8:133142142 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.867G>A (p.Val289=) |
single nucleotide variant |
Benign neonatal seizures [RCV002067155]|not provided [RCV000733531] |
Chr8:132175519 [GRCh38]
Chr8:133187766 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.2455G>A (p.Gly819Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV000538307] |
Chr8:132129426 [GRCh38]
Chr8:133141673 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1562C>G (p.Ala521Gly) |
single nucleotide variant |
not specified [RCV000413455] |
Chr8:132140082 [GRCh38]
Chr8:133152329 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2619A>G (p.Ter873=) |
single nucleotide variant |
Benign neonatal seizures [RCV000553223] |
Chr8:132129262 [GRCh38]
Chr8:133141509 [GRCh37]
Chr8:8q24.22 |
likely benign |
| GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 |
copy number gain |
See cases [RCV000447507] |
Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.-7G>C |
single nucleotide variant |
KCNQ3-related disorder [RCV003902498]|not specified [RCV000420769] |
Chr8:132480539 [GRCh38]
Chr8:133492786 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.1638G>A (p.Val546=) |
single nucleotide variant |
not specified [RCV000417566] |
Chr8:132137947 [GRCh38]
Chr8:133150194 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2388C>T (p.Asn796=) |
single nucleotide variant |
Benign neonatal seizures [RCV002522656]|not provided [RCV002060074]|not specified [RCV000420788] |
Chr8:132129493 [GRCh38]
Chr8:133141740 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.567C>T (p.Gly189=) |
single nucleotide variant |
not specified [RCV000427471] |
Chr8:132184278 [GRCh38]
Chr8:133196525 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1800-12G>A |
single nucleotide variant |
Benign neonatal seizures [RCV002062553]|not specified [RCV000431143] |
Chr8:132132276 [GRCh38]
Chr8:133144523 [GRCh37]
Chr8:8q24.22 |
likely benign|conflicting interpretations of pathogenicity |
| NM_004519.4(KCNQ3):c.1677C>A (p.Ser559=) |
single nucleotide variant |
Benign neonatal seizures [RCV000558056]|Inborn genetic diseases [RCV002402137]|not provided [RCV001720064] |
Chr8:132137908 [GRCh38]
Chr8:133150155 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1839C>T (p.Ile613=) |
single nucleotide variant |
Benign neonatal seizures [RCV002524819]|not specified [RCV000428095] |
Chr8:132132225 [GRCh38]
Chr8:133144472 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.609C>T (p.Ile203=) |
single nucleotide variant |
Benign neonatal seizures [RCV002525484]|Inborn genetic diseases [RCV002318491]|not specified [RCV000442209] |
Chr8:132180325 [GRCh38]
Chr8:133192572 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1026C>T (p.Ser342=) |
single nucleotide variant |
Benign neonatal seizures [RCV001491433]|not specified [RCV000442401] |
Chr8:132174257 [GRCh38]
Chr8:133186504 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2538G>A (p.Thr846=) |
single nucleotide variant |
Benign neonatal seizures [RCV000868118]|not provided [RCV001720001] |
Chr8:132129343 [GRCh38]
Chr8:133141590 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2556T>G (p.Pro852=) |
single nucleotide variant |
not specified [RCV000418572] |
Chr8:132129325 [GRCh38]
Chr8:133141572 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1119G>A (p.Lys373=) |
single nucleotide variant |
Benign neonatal seizures [RCV002059608]|not specified [RCV000421281] |
Chr8:132172619 [GRCh38]
Chr8:133184866 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.168G>C (p.Ala56=) |
single nucleotide variant |
Benign neonatal seizures [RCV001457233]|not specified [RCV000428365] |
Chr8:132480365 [GRCh38]
Chr8:133492612 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.57C>A (p.Gly19=) |
single nucleotide variant |
not specified [RCV000421575] |
Chr8:132480476 [GRCh38]
Chr8:133492723 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.99G>A (p.Ala33=) |
single nucleotide variant |
Benign neonatal seizures [RCV001495255]|not specified [RCV000421649] |
Chr8:132480434 [GRCh38]
Chr8:133492681 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1141-3C>T |
single nucleotide variant |
Benign neonatal seizures [RCV001204222]|not provided [RCV001704377] |
Chr8:132170431 [GRCh38]
Chr8:133182678 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.624C>T (p.Ala208=) |
single nucleotide variant |
Benign neonatal seizures [RCV002058905]|not specified [RCV000429094] |
Chr8:132180310 [GRCh38]
Chr8:133192557 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.478-15T>C |
single nucleotide variant |
Benign neonatal seizures [RCV002524867]|not specified [RCV000436052] |
Chr8:132184382 [GRCh38]
Chr8:133196629 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1569-11T>A |
single nucleotide variant |
not specified [RCV000422142] |
Chr8:132138027 [GRCh38]
Chr8:133150274 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.478-16A>T |
single nucleotide variant |
Benign neonatal seizures [RCV003586182]|not specified [RCV000425617] |
Chr8:132184383 [GRCh38]
Chr8:133196630 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1800-10T>C |
single nucleotide variant |
Benign neonatal seizures [RCV002058985]|not specified [RCV000419764] |
Chr8:132132274 [GRCh38]
Chr8:133144521 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.*9A>G |
single nucleotide variant |
not specified [RCV000419769] |
Chr8:132129253 [GRCh38]
Chr8:133141500 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1623C>T (p.Tyr541=) |
single nucleotide variant |
Benign neonatal seizures [RCV000872145]|Seizures, benign familial neonatal, 2 [RCV001164531]|not provided [RCV001704476] |
Chr8:132137962 [GRCh38]
Chr8:133150209 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.891A>G (p.Lys297=) |
single nucleotide variant |
Benign neonatal seizures [RCV001487478]|not specified [RCV000419920] |
Chr8:132175495 [GRCh38]
Chr8:133187742 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1800-13C>T |
single nucleotide variant |
Benign neonatal seizures [RCV002062801]|not specified [RCV000433067] |
Chr8:132132277 [GRCh38]
Chr8:133144524 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1563C>T (p.Ala521=) |
single nucleotide variant |
Benign neonatal seizures [RCV001432347]|not provided [RCV000999072] |
Chr8:132140081 [GRCh38]
Chr8:133152328 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1964C>T (p.Thr655Met) |
single nucleotide variant |
Benign neonatal seizures [RCV000526418]|Inborn genetic diseases [RCV002418251]|not provided [RCV001703460] |
Chr8:132129917 [GRCh38]
Chr8:133142164 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.834T>C (p.Leu278=) |
single nucleotide variant |
Benign neonatal seizures [RCV000647895]|Inborn genetic diseases [RCV002314147]|KCNQ3-related disorder [RCV003922712]|not provided [RCV001726160]|not specified [RCV000437132] |
Chr8:132175552 [GRCh38]
Chr8:133187799 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.2035G>A (p.Asp679Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV001865405]|Inborn genetic diseases [RCV003168710]|not provided [RCV000433881] |
Chr8:132129846 [GRCh38]
Chr8:133142093 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2562G>A (p.Ser854=) |
single nucleotide variant |
Benign neonatal seizures [RCV001409851]|Inborn genetic diseases [RCV002429404]|not specified [RCV000437201] |
Chr8:132129319 [GRCh38]
Chr8:133141566 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.789G>A (p.Thr263=) |
single nucleotide variant |
Benign neonatal seizures [RCV001370843]|Inborn genetic diseases [RCV002313084]|not specified [RCV000420455] |
Chr8:132175597 [GRCh38]
Chr8:133187844 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 |
copy number gain |
See cases [RCV000448954] |
Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3 |
pathogenic |
| GRCh37/hg19 8q24.21-24.22(chr8:128295596-133200773)x1 |
copy number loss |
See cases [RCV000448960] |
Chr8:128295596..133200773 [GRCh37]
Chr8:8q24.21-24.22 |
likely pathogenic |
| GRCh37/hg19 8q24.22(chr8:132812614-133245950)x3 |
copy number gain |
See cases [RCV000448346] |
Chr8:132812614..133245950 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.387G>C (p.Val129=) |
single nucleotide variant |
Benign neonatal seizures [RCV000458911] |
Chr8:132186181 [GRCh38]
Chr8:133198428 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2129A>G (p.Tyr710Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV000474531]|Seizures, benign familial neonatal, 2 [RCV001331249] |
Chr8:132129752 [GRCh38]
Chr8:133141999 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.2123G>T (p.Ser708Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV001481241]|not provided [RCV000659109] |
Chr8:132129758 [GRCh38]
Chr8:133142005 [GRCh37]
Chr8:8q24.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.878G>A (p.Gly293Glu) |
single nucleotide variant |
not provided [RCV000483351] |
Chr8:132175508 [GRCh38]
Chr8:133187755 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NM_004519.4(KCNQ3):c.860C>T (p.Pro287Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV000456805] |
Chr8:132175526 [GRCh38]
Chr8:133187773 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2338C>T (p.Arg780Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV000467985]|Inborn genetic diseases [RCV002446778]|Seizures, benign familial neonatal, 2 [RCV001814157]|not provided [RCV000585180] |
Chr8:132129543 [GRCh38]
Chr8:133141790 [GRCh37]
Chr8:8q24.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_004519.4(KCNQ3):c.1701-4T>C |
single nucleotide variant |
Benign neonatal seizures [RCV001413010] |
Chr8:132134392 [GRCh38]
Chr8:133146639 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1885-5dup |
duplication |
Benign neonatal seizures [RCV001517201]|not provided [RCV001704641] |
Chr8:132130000..132130001 [GRCh38]
Chr8:133142247..133142248 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.1918G>A (p.Val640Met) |
single nucleotide variant |
Benign neonatal seizures [RCV000461514]|Inborn genetic diseases [RCV004022559]|not provided [RCV000486593] |
Chr8:132129963 [GRCh38]
Chr8:133142210 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.689G>A (p.Arg230His) |
single nucleotide variant |
Benign neonatal seizures [RCV001059339]|Inborn genetic diseases [RCV000624399]|See cases [RCV004584388]|Seizures, benign familial neonatal, 2 [RCV001004714]|not provided [RCV000484158] |
Chr8:132180245 [GRCh38]
Chr8:133192492 [GRCh37]
Chr8:8q24.22 |
pathogenic|likely pathogenic |
| NM_004519.4(KCNQ3):c.105_106inv (p.Ala36Pro) |
inversion |
Benign neonatal seizures [RCV000468374] |
Chr8:132480427..132480428 [GRCh38]
Chr8:133492674..133492675 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1045-4C>T |
single nucleotide variant |
Benign neonatal seizures [RCV000468762]|not specified [RCV000613106] |
Chr8:132172697 [GRCh38]
Chr8:133184944 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1810T>A (p.Tyr604Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV000468902] |
Chr8:132132254 [GRCh38]
Chr8:133144501 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1617G>A (p.Arg539=) |
single nucleotide variant |
Benign neonatal seizures [RCV001438493]|Inborn genetic diseases [RCV002402312] |
Chr8:132137968 [GRCh38]
Chr8:133150215 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1783T>C (p.Ser595Pro) |
single nucleotide variant |
not provided [RCV000478698] |
Chr8:132134306 [GRCh38]
Chr8:133146553 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.923G>C (p.Trp308Ser) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001814160]|not provided [RCV000480153] |
Chr8:132175463 [GRCh38]
Chr8:133187710 [GRCh37]
Chr8:8q24.22 |
likely pathogenic|not provided |
| NM_004519.4(KCNQ3):c.2537C>T (p.Thr846Met) |
single nucleotide variant |
Benign neonatal seizures [RCV001857013]|not provided [RCV000497350] |
Chr8:132129344 [GRCh38]
Chr8:133141591 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.293A>G (p.Lys98Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV002527131]|Seizure [RCV001256083]|not provided [RCV000497536] |
Chr8:132480240 [GRCh38]
Chr8:133492487 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) |
copy number gain |
See cases [RCV000510234] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.1067C>T (p.Ala356Val) |
single nucleotide variant |
not provided [RCV000498312] |
Chr8:132172671 [GRCh38]
Chr8:133184918 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NM_004519.4(KCNQ3):c.2074C>G (p.Pro692Ala) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001160874]|not provided [RCV000493432] |
Chr8:132129807 [GRCh38]
Chr8:133142054 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8q24.21-24.22(chr8:131025817-133947836)x3 |
copy number gain |
See cases [RCV000511900] |
Chr8:131025817..133947836 [GRCh37]
Chr8:8q24.21-24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2237C>T (p.Thr746Met) |
single nucleotide variant |
Benign neonatal seizures [RCV001058731]|not provided [RCV000999070] |
Chr8:132129644 [GRCh38]
Chr8:133141891 [GRCh37]
Chr8:8q24.22 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 |
copy number gain |
See cases [RCV000511761] |
Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 |
copy number gain |
See cases [RCV000511095] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 |
copy number gain |
See cases [RCV000511002] |
Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3 |
pathogenic |
| GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 |
copy number gain |
See cases [RCV000510854] |
Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.49G>A (p.Asp17Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV000647882] |
Chr8:132480484 [GRCh38]
Chr8:133492731 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.38GCG[5] (p.Gly16dup) |
microsatellite |
Benign neonatal seizures [RCV000647883]|Inborn genetic diseases [RCV002334173]|not provided [RCV004723031] |
Chr8:132480483..132480484 [GRCh38]
Chr8:133492730..133492731 [GRCh37]
Chr8:8q24.22 |
likely pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.1430G>A (p.Arg477His) |
single nucleotide variant |
Benign neonatal seizures [RCV000647884] |
Chr8:132141164 [GRCh38]
Chr8:133153411 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1078C>T (p.Gln360Ter) |
single nucleotide variant |
Benign neonatal seizures [RCV000647885] |
Chr8:132172660 [GRCh38]
Chr8:133184907 [GRCh37]
Chr8:8q24.22 |
pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.608T>C (p.Ile203Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV000647886] |
Chr8:132180326 [GRCh38]
Chr8:133192573 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.679C>A (p.Arg227=) |
single nucleotide variant |
Benign neonatal seizures [RCV000647896] |
Chr8:132180255 [GRCh38]
Chr8:133192502 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1248G>A (p.Leu416=) |
single nucleotide variant |
Benign neonatal seizures [RCV000647897] |
Chr8:132163482 [GRCh38]
Chr8:133175729 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2343C>T (p.Ser781=) |
single nucleotide variant |
Benign neonatal seizures [RCV000647903] |
Chr8:132129538 [GRCh38]
Chr8:133141785 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2133G>A (p.Gly711=) |
single nucleotide variant |
Benign neonatal seizures [RCV000647904] |
Chr8:132129748 [GRCh38]
Chr8:133141995 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.429C>T (p.Thr143=) |
single nucleotide variant |
not specified [RCV000604050] |
Chr8:132186139 [GRCh38]
Chr8:133198386 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1722T>C (p.Pro574=) |
single nucleotide variant |
Benign neonatal seizures [RCV002532663]|not provided [RCV000595197] |
Chr8:132134367 [GRCh38]
Chr8:133146614 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.2139del (p.Phe713fs) |
deletion |
Benign neonatal seizures [RCV000540371]|not specified [RCV003323609] |
Chr8:132129742 [GRCh38]
Chr8:133141989 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2607T>G (p.Asn869Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003276092] |
Chr8:132129274 [GRCh38]
Chr8:133141521 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1044+7A>G |
single nucleotide variant |
Benign neonatal seizures [RCV000559812] |
Chr8:132174232 [GRCh38]
Chr8:133186479 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1775C>G (p.Thr592Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV000537641]|Inborn genetic diseases [RCV003258869] |
Chr8:132134314 [GRCh38]
Chr8:133146561 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1291C>T (p.Arg431Cys) |
single nucleotide variant |
not provided [RCV003328041] |
Chr8:132141303 [GRCh38]
Chr8:133153550 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1799+6G>A |
single nucleotide variant |
not specified [RCV000601414] |
Chr8:132134284 [GRCh38]
Chr8:133146531 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1060G>A (p.Gly354Arg) |
single nucleotide variant |
not provided [RCV000523991] |
Chr8:132172678 [GRCh38]
Chr8:133184925 [GRCh37]
Chr8:8q24.22 |
pathogenic|likely pathogenic |
| NM_004519.4(KCNQ3):c.2034C>T (p.Ser678=) |
single nucleotide variant |
Benign neonatal seizures [RCV002528713]|not specified [RCV000612137] |
Chr8:132129847 [GRCh38]
Chr8:133142094 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1700+12A>C |
single nucleotide variant |
not specified [RCV000612139] |
Chr8:132137873 [GRCh38]
Chr8:133150120 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.81C>T (p.Asn27=) |
single nucleotide variant |
Benign neonatal seizures [RCV000907011]|not specified [RCV000615688] |
Chr8:132480452 [GRCh38]
Chr8:133492699 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.12G>A (p.Lys4=) |
single nucleotide variant |
Benign neonatal seizures [RCV000537349] |
Chr8:132480521 [GRCh38]
Chr8:133492768 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2545G>A (p.Gly849Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV002525126]|not provided [RCV000523547] |
Chr8:132129336 [GRCh38]
Chr8:133141583 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.75G>C (p.Ala25=) |
single nucleotide variant |
Benign neonatal seizures [RCV002529456]|not specified [RCV000607607] |
Chr8:132480458 [GRCh38]
Chr8:133492705 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.478-20C>T |
single nucleotide variant |
Benign neonatal seizures [RCV003105989]|not specified [RCV000608088] |
Chr8:132184387 [GRCh38]
Chr8:133196634 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1470C>G (p.Ala490=) |
single nucleotide variant |
not specified [RCV000608101] |
Chr8:132140174 [GRCh38]
Chr8:133152421 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1032T>C (p.Phe344=) |
single nucleotide variant |
not specified [RCV000608147] |
Chr8:132174251 [GRCh38]
Chr8:133186498 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.714G>A (p.Leu238=) |
single nucleotide variant |
Benign neonatal seizures [RCV001469634]|not provided [RCV000613535] |
Chr8:132180220 [GRCh38]
Chr8:133192467 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1142C>T (p.Ala381Val) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000656019]|Seizures, benign familial neonatal, 2 [RCV001814169] |
Chr8:132170427 [GRCh38]
Chr8:133182674 [GRCh37]
Chr8:8q24.22 |
pathogenic|not provided |
| NM_004519.4(KCNQ3):c.2317C>T (p.Arg773Ter) |
single nucleotide variant |
not provided [RCV003239125] |
Chr8:132129564 [GRCh38]
Chr8:133141811 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1799+17T>C |
single nucleotide variant |
Benign neonatal seizures [RCV002065265]|not specified [RCV000611681] |
Chr8:132134273 [GRCh38]
Chr8:133146520 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.507C>T (p.Ala169=) |
single nucleotide variant |
Benign neonatal seizures [RCV001460368]|not specified [RCV000614485] |
Chr8:132184338 [GRCh38]
Chr8:133196585 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.897G>A (p.Glu299=) |
single nucleotide variant |
Benign neonatal seizures [RCV001496740]|not provided [RCV003437304]|not specified [RCV000611921] |
Chr8:132175489 [GRCh38]
Chr8:133187736 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1209A>G (p.Glu403=) |
single nucleotide variant |
Benign neonatal seizures [RCV000558873] |
Chr8:132170360 [GRCh38]
Chr8:133182607 [GRCh37]
Chr8:8q24.22 |
likely benign |
| GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 |
copy number gain |
See cases [RCV000512401] |
Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.154C>G (p.Gln52Glu) |
single nucleotide variant |
not provided [RCV000595638] |
Chr8:132480379 [GRCh38]
Chr8:133492626 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1005C>A (p.Thr335=) |
single nucleotide variant |
not specified [RCV000603913] |
Chr8:132174278 [GRCh38]
Chr8:133186525 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.899T>C (p.Phe300Ser) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV000585872] |
Chr8:132175487 [GRCh38]
Chr8:133187734 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NM_004519.4(KCNQ3):c.604+10G>T |
single nucleotide variant |
Benign neonatal seizures [RCV001410903]|not provided [RCV000726752]|not specified [RCV000596508] |
Chr8:132184231 [GRCh38]
Chr8:133196478 [GRCh37]
Chr8:8q24.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004519.4(KCNQ3):c.2169G>T (p.Gly723=) |
single nucleotide variant |
Benign neonatal seizures [RCV000647881] |
Chr8:132129712 [GRCh38]
Chr8:133141959 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.2423G>A (p.Ser808Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV000647888] |
Chr8:132129458 [GRCh38]
Chr8:133141705 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2505G>C (p.Glu835Asp) |
single nucleotide variant |
Benign neonatal seizures [RCV000647890]|Inborn genetic diseases [RCV002533342]|not specified [RCV004702242] |
Chr8:132129376 [GRCh38]
Chr8:133141623 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.141C>T (p.Pro47=) |
single nucleotide variant |
Benign neonatal seizures [RCV000647894] |
Chr8:132480392 [GRCh38]
Chr8:133492639 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1549G>A (p.Ala517Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV000647898] |
Chr8:132140095 [GRCh38]
Chr8:133152342 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.183C>G (p.Ala61=) |
single nucleotide variant |
Benign neonatal seizures [RCV000647902] |
Chr8:132480350 [GRCh38]
Chr8:133492597 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1215C>T (p.Val405=) |
single nucleotide variant |
Benign neonatal seizures [RCV000647905]|not provided [RCV001662701] |
Chr8:132170354 [GRCh38]
Chr8:133182601 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 |
copy number gain |
See cases [RCV000512169] |
Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.1000G>A (p.Ala334Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV001062660]|Childhood epilepsy with centrotemporal spikes [RCV000656020]|Inborn genetic diseases [RCV001266170] |
Chr8:132174283 [GRCh38]
Chr8:133186530 [GRCh37]
Chr8:8q24.22 |
pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.956A>G (p.Tyr319Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV001857856]|Seizure [RCV003403201]|not provided [RCV000513519] |
Chr8:132174327 [GRCh38]
Chr8:133186574 [GRCh37]
Chr8:8q24.22 |
likely pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.1945C>T (p.Arg649Trp) |
single nucleotide variant |
not provided [RCV000659110] |
Chr8:132129936 [GRCh38]
Chr8:133142183 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1685dup (p.Tyr563fs) |
duplication |
Benign neonatal seizures [RCV000685942] |
Chr8:132137899..132137900 [GRCh38]
Chr8:133150146..133150147 [GRCh37]
Chr8:8q24.22 |
pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.2454C>T (p.Phe818=) |
single nucleotide variant |
Benign neonatal seizures [RCV002061037]|KCNQ3-related disorder [RCV004742635]|Seizures, benign familial neonatal, 2 [RCV000768252] |
Chr8:132129427 [GRCh38]
Chr8:133141674 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1973A>G (p.Tyr658Cys) |
single nucleotide variant |
Intellectual disability [RCV001252269] |
Chr8:132129908 [GRCh38]
Chr8:133142155 [GRCh37]
Chr8:8q24.22 |
likely benign |
| GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 |
copy number gain |
not provided [RCV000683044] |
Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.449C>A (p.Thr150Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV000702461] |
Chr8:132186119 [GRCh38]
Chr8:133198366 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2139dup (p.Ala714fs) |
duplication |
Benign neonatal seizures [RCV000687471] |
Chr8:132129741..132129742 [GRCh38]
Chr8:133141988..133141989 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2072G>A (p.Gly691Asp) |
single nucleotide variant |
Benign neonatal seizures [RCV000690879]|not provided [RCV001570467] |
Chr8:132129809 [GRCh38]
Chr8:133142056 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2084C>T (p.Pro695Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV000693935] |
Chr8:132129797 [GRCh38]
Chr8:133142044 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1178T>C (p.Ile393Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV000691630]|Seizures, benign familial neonatal, 2 [RCV000765991]|not provided [RCV002263935] |
Chr8:132170391 [GRCh38]
Chr8:133182638 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2239G>T (p.Val747Phe) |
single nucleotide variant |
Benign neonatal seizures [RCV000691662]|Inborn genetic diseases [RCV003258925] |
Chr8:132129642 [GRCh38]
Chr8:133141889 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.387-4C>G |
single nucleotide variant |
Benign neonatal seizures [RCV000684883] |
Chr8:132186185 [GRCh38]
Chr8:133198432 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2393A>C (p.Glu798Ala) |
single nucleotide variant |
Benign neonatal seizures [RCV000688941] |
Chr8:132129488 [GRCh38]
Chr8:133141735 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.959G>A (p.Gly320Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV000699795]|Inborn genetic diseases [RCV002317923] |
Chr8:132174324 [GRCh38]
Chr8:133186571 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.50_67del (p.Asp17_Gly22del) |
deletion |
Benign neonatal seizures [RCV000690419] |
Chr8:132480466..132480483 [GRCh38]
Chr8:133492713..133492730 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.914A>T (p.Asp305Val) |
single nucleotide variant |
Benign neonatal seizures [RCV000693184] |
Chr8:132175472 [GRCh38]
Chr8:133187719 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1941G>A (p.Met647Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV000693247]|Inborn genetic diseases [RCV002406582]|Seizures, benign familial neonatal, 2 [RCV001329911] |
Chr8:132129940 [GRCh38]
Chr8:133142187 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2219C>T (p.Thr740Met) |
single nucleotide variant |
Benign neonatal seizures [RCV000703236]|Seizures, benign familial neonatal, 2 [RCV001159504] |
Chr8:132129662 [GRCh38]
Chr8:133141909 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.640G>A (p.Ala214Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV000705767] |
Chr8:132180294 [GRCh38]
Chr8:133192541 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1525G>A (p.Glu509Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV000691753] |
Chr8:132140119 [GRCh38]
Chr8:133152366 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.116_148dup (p.Glu39_Asp49dup) |
duplication |
Benign neonatal seizures [RCV000703566] |
Chr8:132480384..132480385 [GRCh38]
Chr8:133492631..133492632 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.73G>A (p.Ala25Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002312424]|Seizures, benign familial neonatal, 2 [RCV002499304] |
Chr8:132480460 [GRCh38]
Chr8:133492707 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1443C>T (p.Tyr481=) |
single nucleotide variant |
Benign neonatal seizures [RCV001426922]|Inborn genetic diseases [RCV002313508] |
Chr8:132141151 [GRCh38]
Chr8:133153398 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1938C>T (p.His646=) |
single nucleotide variant |
Benign neonatal seizures [RCV001862084]|Inborn genetic diseases [RCV002318253] |
Chr8:132129943 [GRCh38]
Chr8:133142190 [GRCh37]
Chr8:8q24.22 |
likely benign |
| GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 |
copy number gain |
not provided [RCV000747254] |
Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 |
copy number gain |
not provided [RCV000747248] |
Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q24.22(chr8:132822037-133262048)x3 |
copy number gain |
not provided [RCV000747858] |
Chr8:132822037..133262048 [GRCh37]
Chr8:8q24.22 |
benign |
| GRCh37/hg19 8q24.22(chr8:133226397-133306801)x1 |
copy number loss |
not provided [RCV000747860] |
Chr8:133226397..133306801 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.2502C>T (p.Ala834=) |
single nucleotide variant |
not provided [RCV001531091] |
Chr8:132129379 [GRCh38]
Chr8:133141626 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1700+37C>T |
single nucleotide variant |
not provided [RCV001610956] |
Chr8:132137848 [GRCh38]
Chr8:133150095 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.386+154GT[19] |
microsatellite |
not provided [RCV001708239] |
Chr8:132479950..132479955 [GRCh38]
Chr8:133492197..133492202 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1885-79del |
deletion |
not provided [RCV001586318] |
Chr8:132130075 [GRCh38]
Chr8:133142322 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.-133A>G |
single nucleotide variant |
KCNQ3-related disorder [RCV003918750]|Seizures, benign familial neonatal, 2 [RCV001164630]|not provided [RCV004695069] |
Chr8:132480665 [GRCh38]
Chr8:133492912 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1140+166_1140+167insTGTGTCTGTGTGTG |
microsatellite |
not provided [RCV001571986] |
Chr8:132172431..132172432 [GRCh38]
Chr8:133184678..133184679 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1884+81dup |
duplication |
not provided [RCV001569794] |
Chr8:132132087..132132088 [GRCh38]
Chr8:133144334..133144335 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1140+163GT[16] |
microsatellite |
not provided [RCV001570148] |
Chr8:132172398..132172403 [GRCh38]
Chr8:133184645..133184650 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1235+32G>A |
single nucleotide variant |
not provided [RCV001551685] |
Chr8:132170302 [GRCh38]
Chr8:133182549 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1799+49A>C |
single nucleotide variant |
not provided [RCV001665103] |
Chr8:132134241 [GRCh38]
Chr8:133146488 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1020C>T (p.Gly340=) |
single nucleotide variant |
Benign neonatal seizures [RCV002064868]|Inborn genetic diseases [RCV002382011] |
Chr8:132174263 [GRCh38]
Chr8:133186510 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1491G>A (p.Ala497=) |
single nucleotide variant |
Benign neonatal seizures [RCV000866475] |
Chr8:132140153 [GRCh38]
Chr8:133152400 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.102G>A (p.Ala34=) |
single nucleotide variant |
Benign neonatal seizures [RCV001435444] |
Chr8:132480431 [GRCh38]
Chr8:133492678 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2514G>C (p.Thr838=) |
single nucleotide variant |
Benign neonatal seizures [RCV001419223]|Inborn genetic diseases [RCV002427125] |
Chr8:132129367 [GRCh38]
Chr8:133141614 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.676C>T (p.Leu226=) |
single nucleotide variant |
Benign neonatal seizures [RCV001476472] |
Chr8:132180258 [GRCh38]
Chr8:133192505 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2446T>C (p.Tyr816His) |
single nucleotide variant |
not provided [RCV002280565] |
Chr8:132129435 [GRCh38]
Chr8:133141682 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1519C>G (p.Pro507Ala) |
single nucleotide variant |
Benign neonatal seizures [RCV001040746] |
Chr8:132140125 [GRCh38]
Chr8:133152372 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.490A>G (p.Ile164Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001040747] |
Chr8:132184355 [GRCh38]
Chr8:133196602 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1697C>T (p.Thr566Met) |
single nucleotide variant |
Benign neonatal seizures [RCV001058487]|not provided [RCV001574899] |
Chr8:132137888 [GRCh38]
Chr8:133150135 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1412G>C (p.Arg471Pro) |
single nucleotide variant |
Benign neonatal seizures [RCV001058554] |
Chr8:132141182 [GRCh38]
Chr8:133153429 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.32C>T (p.Ala11Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001042915] |
Chr8:132480501 [GRCh38]
Chr8:133492748 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.373T>C (p.Tyr125His) |
single nucleotide variant |
Benign neonatal seizures [RCV001057525] |
Chr8:132480160 [GRCh38]
Chr8:133492407 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1363G>C (p.Glu455Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV001057681]|Inborn genetic diseases [RCV004629430] |
Chr8:132141231 [GRCh38]
Chr8:133153478 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2467G>A (p.Gly823Arg) |
single nucleotide variant |
Seizure [RCV000781976] |
Chr8:132129414 [GRCh38]
Chr8:133141661 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.994A>T (p.Ile332Phe) |
single nucleotide variant |
not provided [RCV000782011] |
Chr8:132174289 [GRCh38]
Chr8:133186536 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1236-4C>T |
single nucleotide variant |
Benign neonatal seizures [RCV001504437] |
Chr8:132163498 [GRCh38]
Chr8:133175745 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.138G>T (p.Ala46=) |
single nucleotide variant |
not provided [RCV000898289] |
Chr8:132480395 [GRCh38]
Chr8:133492642 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1410G>A (p.Glu470=) |
single nucleotide variant |
not provided [RCV000981851] |
Chr8:132141184 [GRCh38]
Chr8:133153431 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.477+7T>C |
single nucleotide variant |
Benign neonatal seizures [RCV000877554] |
Chr8:132186084 [GRCh38]
Chr8:133198331 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.562C>A (p.Arg188=) |
single nucleotide variant |
Benign neonatal seizures [RCV001409599] |
Chr8:132184283 [GRCh38]
Chr8:133196530 [GRCh37]
Chr8:8q24.22 |
likely benign |
| GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 |
copy number loss |
not provided [RCV001006144] |
Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.1465+7C>G |
single nucleotide variant |
not provided [RCV003312721] |
Chr8:132141122 [GRCh38]
Chr8:133153369 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1432A>G (p.Met478Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001945062] |
Chr8:132141162 [GRCh38]
Chr8:133153409 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.847G>A (p.Glu283Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV000820822] |
Chr8:132175539 [GRCh38]
Chr8:133187786 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1140+15G>A |
single nucleotide variant |
Benign neonatal seizures [RCV002067452]|not provided [RCV000827414] |
Chr8:132172583 [GRCh38]
Chr8:133184830 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1125T>G (p.Ala375=) |
single nucleotide variant |
not provided [RCV000830995] |
Chr8:132172613 [GRCh38]
Chr8:133184860 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1780C>T (p.Pro594Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV000800837]|not provided [RCV001766658] |
Chr8:132134309 [GRCh38]
Chr8:133146556 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2044A>G (p.Thr682Ala) |
single nucleotide variant |
Benign neonatal seizures [RCV000817391] |
Chr8:132129837 [GRCh38]
Chr8:133142084 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1044G>A (p.Ala348=) |
single nucleotide variant |
Benign neonatal seizures [RCV001858433]|not provided [RCV000839547] |
Chr8:132174239 [GRCh38]
Chr8:133186486 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1588T>C (p.Tyr530His) |
single nucleotide variant |
Benign neonatal seizures [RCV000797854] |
Chr8:132137997 [GRCh38]
Chr8:133150244 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.386+32845T>C |
single nucleotide variant |
not provided [RCV000834225] |
Chr8:132447302 [GRCh38]
Chr8:133459549 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1236-134C>T |
single nucleotide variant |
not provided [RCV000842073] |
Chr8:132163628 [GRCh38]
Chr8:133175875 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.777+135A>G |
single nucleotide variant |
not provided [RCV000842074] |
Chr8:132180022 [GRCh38]
Chr8:133192269 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.777+220G>C |
single nucleotide variant |
not provided [RCV000842075] |
Chr8:132179937 [GRCh38]
Chr8:133192184 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.777+225G>C |
single nucleotide variant |
not provided [RCV000842076] |
Chr8:132179932 [GRCh38]
Chr8:133192179 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.778-203T>G |
single nucleotide variant |
not provided [RCV000842077] |
Chr8:132175811 [GRCh38]
Chr8:133188058 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.934-228C>T |
single nucleotide variant |
not provided [RCV000842079] |
Chr8:132174577 [GRCh38]
Chr8:133186824 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1044+156A>G |
single nucleotide variant |
not provided [RCV000842097] |
Chr8:132174083 [GRCh38]
Chr8:133186330 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1885-110C>T |
single nucleotide variant |
not provided [RCV000834320] |
Chr8:132130106 [GRCh38]
Chr8:133142353 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.2024A>G (p.Asn675Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV000810895] |
Chr8:132129857 [GRCh38]
Chr8:133142104 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.605-302C>T |
single nucleotide variant |
not provided [RCV000828550] |
Chr8:132180631 [GRCh38]
Chr8:133192878 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.-318G>A |
single nucleotide variant |
not provided [RCV000832810] |
Chr8:132480850 [GRCh38]
Chr8:133493097 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.2320A>G (p.Ile774Val) |
single nucleotide variant |
Benign neonatal seizures [RCV000821725] |
Chr8:132129561 [GRCh38]
Chr8:133141808 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2386A>G (p.Asn796Asp) |
single nucleotide variant |
Benign neonatal seizures [RCV000798305] |
Chr8:132129495 [GRCh38]
Chr8:133141742 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV000818357]|KCNQ3-related disorder [RCV003413649]|Seizures, benign familial neonatal, 2 [RCV000853346]|not provided [RCV004773192] |
Chr8:132174333 [GRCh38]
Chr8:133186580 [GRCh37]
Chr8:8q24.22 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.1262+269T>C |
single nucleotide variant |
not provided [RCV000843917] |
Chr8:132163199 [GRCh38]
Chr8:133175446 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1465+256A>G |
single nucleotide variant |
not provided [RCV000843920] |
Chr8:132140873 [GRCh38]
Chr8:133153120 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1489G>A (p.Ala497Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV000818515]|not provided [RCV001655606] |
Chr8:132140155 [GRCh38]
Chr8:133152402 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.2520A>G (p.Thr840=) |
single nucleotide variant |
Benign neonatal seizures [RCV001463564] |
Chr8:132129361 [GRCh38]
Chr8:133141608 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NC_000008.10:g.(?_133141489)_(134296574_?)dup |
duplication |
Charcot-Marie-Tooth disease type 4 [RCV000804620] |
Chr8:133141489..134296574 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.777+306G>C |
single nucleotide variant |
not provided [RCV000830940] |
Chr8:132179851 [GRCh38]
Chr8:133192098 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1235+38A>G |
single nucleotide variant |
not provided [RCV000829927] |
Chr8:132170296 [GRCh38]
Chr8:133182543 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.386+33260C>T |
single nucleotide variant |
not provided [RCV000833545] |
Chr8:132446887 [GRCh38]
Chr8:133459134 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1736C>T (p.Thr579Met) |
single nucleotide variant |
Benign neonatal seizures [RCV000817107] |
Chr8:132134353 [GRCh38]
Chr8:133146600 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1569-200G>A |
single nucleotide variant |
not provided [RCV000837062] |
Chr8:132138216 [GRCh38]
Chr8:133150463 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1884+244T>C |
single nucleotide variant |
not provided [RCV000837063] |
Chr8:132131936 [GRCh38]
Chr8:133144183 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.386+254G>T |
single nucleotide variant |
not provided [RCV000827893] |
Chr8:132479893 [GRCh38]
Chr8:133492140 [GRCh37]
Chr8:8q24.22 |
likely benign |
| GRCh37/hg19 8q24.22(chr8:132588071-133169753)x3 |
copy number gain |
not provided [RCV000848381] |
Chr8:132588071..133169753 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.934-108G>A |
single nucleotide variant |
not provided [RCV000834540] |
Chr8:132174457 [GRCh38]
Chr8:133186704 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1764G>A (p.Gly588=) |
single nucleotide variant |
not provided [RCV000841237] |
Chr8:132134325 [GRCh38]
Chr8:133146572 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1568+326G>A |
single nucleotide variant |
not provided [RCV000831605] |
Chr8:132139750 [GRCh38]
Chr8:133151997 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1090C>T (p.Arg364Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV000813464]|Seizures, benign familial neonatal, 2 [RCV003389832] |
Chr8:132172648 [GRCh38]
Chr8:133184895 [GRCh37]
Chr8:8q24.22 |
pathogenic|uncertain significance|not provided |
| GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 |
copy number loss |
not provided [RCV000848438] |
Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.933+114G>A |
single nucleotide variant |
not provided [RCV000836153] |
Chr8:132175339 [GRCh38]
Chr8:133187586 [GRCh37]
Chr8:8q24.22 |
benign |
| GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 |
copy number gain |
not provided [RCV000849762] |
Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.337G>A (p.Asp113Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV000824286]|Seizures, benign familial neonatal, 2 [RCV001160995] |
Chr8:132480196 [GRCh38]
Chr8:133492443 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.214G>A (p.Gly72Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV000822042]|Inborn genetic diseases [RCV004629353]|See cases [RCV001593018] |
Chr8:132480319 [GRCh38]
Chr8:133492566 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1568+212G>A |
single nucleotide variant |
not provided [RCV000829758] |
Chr8:132139864 [GRCh38]
Chr8:133152111 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.*4947G>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001164116] |
Chr8:132124315 [GRCh38]
Chr8:133136562 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.61_77del (p.Gly20_Gly21insTer) |
deletion |
Benign neonatal seizures [RCV001044522] |
Chr8:132480456..132480472 [GRCh38]
Chr8:133492703..133492719 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.-519C>G |
single nucleotide variant |
not provided [RCV000827675] |
Chr8:132481051 [GRCh38]
Chr8:133493298 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*1962G>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001164315] |
Chr8:132127300 [GRCh38]
Chr8:133139547 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1885-67C>G |
single nucleotide variant |
not provided [RCV000829748]|not specified [RCV004594131] |
Chr8:132130063 [GRCh38]
Chr8:133142310 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1044+5G>T |
single nucleotide variant |
Benign neonatal seizures [RCV001046099] |
Chr8:132174234 [GRCh38]
Chr8:133186481 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.-206C>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001164631] |
Chr8:132480738 [GRCh38]
Chr8:133492985 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.933+25T>C |
single nucleotide variant |
not provided [RCV000829991] |
Chr8:132175428 [GRCh38]
Chr8:133187675 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1236-64C>T |
single nucleotide variant |
not provided [RCV000829992] |
Chr8:132163558 [GRCh38]
Chr8:133175805 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1700+29G>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001730714]|not provided [RCV000830052]|not specified [RCV004594169] |
Chr8:132137856 [GRCh38]
Chr8:133150103 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.-139del |
deletion |
not provided [RCV000830093] |
Chr8:132480671 [GRCh38]
Chr8:133492918 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.402G>A (p.Leu134=) |
single nucleotide variant |
Benign neonatal seizures [RCV000810254]|not provided [RCV001759562] |
Chr8:132186166 [GRCh38]
Chr8:133198413 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.259C>T (p.Leu87Phe) |
single nucleotide variant |
Benign neonatal seizures [RCV000793918] |
Chr8:132480274 [GRCh38]
Chr8:133492521 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2086C>A (p.Pro696Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV001351239]|not provided [RCV000999071] |
Chr8:132129795 [GRCh38]
Chr8:133142042 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*4947G>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001164115] |
Chr8:132124315 [GRCh38]
Chr8:133136562 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*3665C>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001164212] |
Chr8:132125597 [GRCh38]
Chr8:133137844 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1656C>A (p.Ala552=) |
single nucleotide variant |
Benign neonatal seizures [RCV002557406]|Seizures, benign familial neonatal, 2 [RCV001164530] |
Chr8:132137929 [GRCh38]
Chr8:133150176 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.*7408G>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001163935] |
Chr8:132121854 [GRCh38]
Chr8:133134101 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1986C>T (p.Gly662=) |
single nucleotide variant |
Benign neonatal seizures [RCV000815316] |
Chr8:132129895 [GRCh38]
Chr8:133142142 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1472G>A (p.Gly491Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV000815420] |
Chr8:132140172 [GRCh38]
Chr8:133152419 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2329C>T (p.Arg777Trp) |
single nucleotide variant |
Benign neonatal seizures [RCV000802132]|not provided [RCV003442085] |
Chr8:132129552 [GRCh38]
Chr8:133141799 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.605-259T>C |
single nucleotide variant |
not provided [RCV000828845] |
Chr8:132180588 [GRCh38]
Chr8:133192835 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1885-264A>G |
single nucleotide variant |
not provided [RCV000830941] |
Chr8:132130260 [GRCh38]
Chr8:133142507 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.-556T>G |
single nucleotide variant |
not provided [RCV000843911] |
Chr8:132481088 [GRCh38]
Chr8:133493335 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.-504A>G |
single nucleotide variant |
not provided [RCV000843913] |
Chr8:132481036 [GRCh38]
Chr8:133493283 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1045-278G>A |
single nucleotide variant |
not provided [RCV000843914] |
Chr8:132172971 [GRCh38]
Chr8:133185218 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.115G>C (p.Glu39Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV000799577] |
Chr8:132480418 [GRCh38]
Chr8:133492665 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.916G>A (p.Ala306Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV000816648] |
Chr8:132175470 [GRCh38]
Chr8:133187717 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2238G>A (p.Thr746=) |
single nucleotide variant |
Benign neonatal seizures [RCV001476364] |
Chr8:132129643 [GRCh38]
Chr8:133141890 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2499C>T (p.Leu833=) |
single nucleotide variant |
Benign neonatal seizures [RCV001455489]|Inborn genetic diseases [RCV002427202] |
Chr8:132129382 [GRCh38]
Chr8:133141629 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.386+62G>T |
single nucleotide variant |
not provided [RCV000835271] |
Chr8:132480085 [GRCh38]
Chr8:133492332 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2544C>T (p.Ser848=) |
single nucleotide variant |
Benign neonatal seizures [RCV001079017]|not provided [RCV000827428] |
Chr8:132129337 [GRCh38]
Chr8:133141584 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.777+121C>T |
single nucleotide variant |
not provided [RCV000842070] |
Chr8:132180036 [GRCh38]
Chr8:133192283 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.933+128A>T |
single nucleotide variant |
not provided [RCV000842071] |
Chr8:132175325 [GRCh38]
Chr8:133187572 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.933+129A>C |
single nucleotide variant |
not provided [RCV000842072] |
Chr8:132175324 [GRCh38]
Chr8:133187571 [GRCh37]
Chr8:8q24.22 |
benign |
| NC_000008.11:g.(?_132129252)_(132186191_?)dup |
duplication |
Benign neonatal seizures [RCV001031608] |
Chr8:133141499..133198438 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*6359C>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001164013] |
Chr8:132122903 [GRCh38]
Chr8:133135150 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*316T>C |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001164433] |
Chr8:132128946 [GRCh38]
Chr8:133141193 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8q24.22(chr8:131915430-135240074)x1 |
copy number loss |
not provided [RCV000845974] |
Chr8:131915430..135240074 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2183G>C (p.Gly728Ala) |
single nucleotide variant |
Benign neonatal seizures [RCV001066966] |
Chr8:132129698 [GRCh38]
Chr8:133141945 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not provided [RCV000848478] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.2514G>A (p.Thr838=) |
single nucleotide variant |
Benign neonatal seizures [RCV000870443]|not provided [RCV001595050] |
Chr8:132129367 [GRCh38]
Chr8:133141614 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.*2197C>G |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162281] |
Chr8:132127065 [GRCh38]
Chr8:133139312 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*749C>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162385] |
Chr8:132128513 [GRCh38]
Chr8:133140760 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1884+5G>C |
single nucleotide variant |
Benign neonatal seizures [RCV001882514]|Seizures, benign familial neonatal, 2 [RCV001162485] |
Chr8:132132175 [GRCh38]
Chr8:133144422 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1707T>C (p.Asp569=) |
single nucleotide variant |
Benign neonatal seizures [RCV003769782]|Seizures, benign familial neonatal, 2 [RCV001162488] |
Chr8:132134382 [GRCh38]
Chr8:133146629 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.282C>G (p.Ser94Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV002559552]|Seizures, benign familial neonatal, 2 [RCV001162577] |
Chr8:132480251 [GRCh38]
Chr8:133492498 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.150G>A (p.Val50=) |
single nucleotide variant |
Benign neonatal seizures [RCV003748312]|Seizures, benign familial neonatal, 2 [RCV001162579] |
Chr8:132480383 [GRCh38]
Chr8:133492630 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.15G>T (p.Ala5=) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162580] |
Chr8:132480518 [GRCh38]
Chr8:133492765 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*6455G>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162002] |
Chr8:132122807 [GRCh38]
Chr8:133135054 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*5369G>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162090] |
Chr8:132123893 [GRCh38]
Chr8:133136140 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*4983T>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162092] |
Chr8:132124279 [GRCh38]
Chr8:133136526 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*2268T>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162280] |
Chr8:132126994 [GRCh38]
Chr8:133139241 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.970C>G (p.Pro324Ala) |
single nucleotide variant |
Benign neonatal seizures [RCV001211125] |
Chr8:132174313 [GRCh38]
Chr8:133186560 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*8102G>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001163620] |
Chr8:132121160 [GRCh38]
Chr8:133133407 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*7923G>C |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001163621] |
Chr8:132121339 [GRCh38]
Chr8:133133586 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.878G>T (p.Gly293Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001242469]|not provided [RCV004768967] |
Chr8:132175508 [GRCh38]
Chr8:133187755 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.173G>A (p.Gly58Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV001231303] |
Chr8:132480360 [GRCh38]
Chr8:133492607 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.856G>T (p.Val286Phe) |
single nucleotide variant |
Benign neonatal seizures [RCV001239424] |
Chr8:132175530 [GRCh38]
Chr8:133187777 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 |
copy number gain |
not provided [RCV000845705] |
Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.1723G>A (p.Gly575Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV001223321] |
Chr8:132134366 [GRCh38]
Chr8:133146613 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1939A>T (p.Met647Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV001225032] |
Chr8:132129942 [GRCh38]
Chr8:133142189 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1285C>A (p.Arg429=) |
single nucleotide variant |
Benign neonatal seizures [RCV001210429] |
Chr8:132141309 [GRCh38]
Chr8:133153556 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.174G>T (p.Gly58=) |
single nucleotide variant |
Benign neonatal seizures [RCV001224596] |
Chr8:132480359 [GRCh38]
Chr8:133492606 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.725G>A (p.Arg242Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV001202414]|not provided [RCV001509348] |
Chr8:132180209 [GRCh38]
Chr8:133192456 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.221G>A (p.Arg74His) |
single nucleotide variant |
Benign neonatal seizures [RCV001236358] |
Chr8:132480312 [GRCh38]
Chr8:133492559 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8q24.22(chr8:132812544-133251797)x3 |
copy number gain |
not provided [RCV000846636] |
Chr8:132812544..133251797 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*75T>C |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001164435] |
Chr8:132129187 [GRCh38]
Chr8:133141434 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*72C>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001164436] |
Chr8:132129190 [GRCh38]
Chr8:133141437 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1665C>T (p.Leu555=) |
single nucleotide variant |
Benign neonatal seizures [RCV001512797]|Inborn genetic diseases [RCV002402521]|KCNQ3-related disorder [RCV003945885]|Seizures, benign familial neonatal, 2 [RCV001164529] |
Chr8:132137920 [GRCh38]
Chr8:133150167 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.*7130C>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159004] |
Chr8:132122132 [GRCh38]
Chr8:133134379 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*4484G>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159207] |
Chr8:132124778 [GRCh38]
Chr8:133137025 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*1384G>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159396] |
Chr8:132127878 [GRCh38]
Chr8:133140125 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1140+14G>A |
single nucleotide variant |
Benign neonatal seizures [RCV002070970]|Seizures, benign familial neonatal, 2 [RCV001159606] |
Chr8:132172584 [GRCh38]
Chr8:133184831 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.*1171C>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001160760] |
Chr8:132128091 [GRCh38]
Chr8:133140338 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.873A>C (p.Ala291=) |
single nucleotide variant |
Benign neonatal seizures [RCV002070993]|Seizures, benign familial neonatal, 2 [RCV001160990] |
Chr8:132175513 [GRCh38]
Chr8:133187760 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.848A>T (p.Glu283Val) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001160992] |
Chr8:132175538 [GRCh38]
Chr8:133187785 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.616C>T (p.Leu206=) |
single nucleotide variant |
Benign neonatal seizures [RCV003769771]|Inborn genetic diseases [RCV002355127]|Seizures, benign familial neonatal, 2 [RCV001160993] |
Chr8:132180318 [GRCh38]
Chr8:133192565 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.591C>T (p.Pro197=) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001160994] |
Chr8:132184254 [GRCh38]
Chr8:133196501 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NC_000008.11:g.(?_132180137)_(132186201_?)dup |
duplication |
Benign neonatal seizures [RCV001032482] |
Chr8:133192384..133198448 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NM_004519.4(KCNQ3):c.*4816C>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001164117] |
Chr8:132124446 [GRCh38]
Chr8:133136693 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.194G>C (p.Gly65Ala) |
single nucleotide variant |
not provided [RCV001200488] |
Chr8:132480339 [GRCh38]
Chr8:133492586 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NM_004519.4(KCNQ3):c.1579T>C (p.Phe527Leu) |
single nucleotide variant |
Autism spectrum disorder [RCV003128070] |
Chr8:132138006 [GRCh38]
Chr8:133150253 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1140+166_1140+167insTGTGTCTGTGTGTGTGTG |
microsatellite |
not provided [RCV001577385] |
Chr8:132172431..132172432 [GRCh38]
Chr8:133184678..133184679 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1885-177G>A |
single nucleotide variant |
not provided [RCV001578037] |
Chr8:132130173 [GRCh38]
Chr8:133142420 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1644G>T (p.Glu548Asp) |
single nucleotide variant |
not provided [RCV001552171] |
Chr8:132137941 [GRCh38]
Chr8:133150188 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1701-126_1701-124del |
microsatellite |
not provided [RCV001547958] |
Chr8:132134512..132134514 [GRCh38]
Chr8:133146759..133146761 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1701-24C>T |
single nucleotide variant |
not provided [RCV001559995] |
Chr8:132134412 [GRCh38]
Chr8:133146659 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.478-45T>C |
single nucleotide variant |
not provided [RCV001715612] |
Chr8:132184412 [GRCh38]
Chr8:133196659 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.173G>T (p.Gly58Val) |
single nucleotide variant |
not provided [RCV001560569] |
Chr8:132480360 [GRCh38]
Chr8:133492607 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.387-101A>G |
single nucleotide variant |
not provided [RCV001612696] |
Chr8:132186282 [GRCh38]
Chr8:133198529 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1799+39A>G |
single nucleotide variant |
not provided [RCV001717752] |
Chr8:132134251 [GRCh38]
Chr8:133146498 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.2458C>A (p.Pro820Thr) |
single nucleotide variant |
not provided [RCV002284767] |
Chr8:132129423 [GRCh38]
Chr8:133141670 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.386+154GT[25] |
microsatellite |
not provided [RCV001719182] |
Chr8:132479949..132479950 [GRCh38]
Chr8:133492196..133492197 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1140+163GT[21] |
microsatellite |
not provided [RCV001681632] |
Chr8:132172397..132172398 [GRCh38]
Chr8:133184644..133184645 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1568+230A>G |
single nucleotide variant |
not provided [RCV001562436] |
Chr8:132139846 [GRCh38]
Chr8:133152093 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1044+36C>T |
single nucleotide variant |
not provided [RCV001717849] |
Chr8:132174203 [GRCh38]
Chr8:133186450 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1885-89_1885-88insAG |
insertion |
not provided [RCV001586478] |
Chr8:132130084..132130085 [GRCh38]
Chr8:133142331..133142332 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1140+166_1140+167insTGTGTCTGTGTGTGTG |
microsatellite |
not provided [RCV001551780] |
Chr8:132172431..132172432 [GRCh38]
Chr8:133184678..133184679 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.50_61del (p.Asp17_Gly20del) |
deletion |
not provided [RCV001562921] |
Chr8:132480472..132480483 [GRCh38]
Chr8:133492719..133492730 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2434G>A (p.Asp812Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV001882681]|not provided [RCV001571945] |
Chr8:132129447 [GRCh38]
Chr8:133141694 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1140+163GT[20] |
microsatellite |
not provided [RCV001686012] |
Chr8:132172397..132172398 [GRCh38]
Chr8:133184644..133184645 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.934-35T>C |
single nucleotide variant |
not provided [RCV001616215] |
Chr8:132174384 [GRCh38]
Chr8:133186631 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1701-127CCTCT[3] |
microsatellite |
not provided [RCV001590870] |
Chr8:132134496..132134500 [GRCh38]
Chr8:133146743..133146747 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.933+291T>C |
single nucleotide variant |
not provided [RCV001614656] |
Chr8:132175162 [GRCh38]
Chr8:133187409 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.2442T>C (p.Asp814=) |
single nucleotide variant |
Benign neonatal seizures [RCV000951500] |
Chr8:132129439 [GRCh38]
Chr8:133141686 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.778-10A>G |
single nucleotide variant |
Benign neonatal seizures [RCV000868727] |
Chr8:132175618 [GRCh38]
Chr8:133187865 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2472G>A (p.Ser824=) |
single nucleotide variant |
Benign neonatal seizures [RCV001407278] |
Chr8:132129409 [GRCh38]
Chr8:133141656 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1998A>G (p.Pro666=) |
single nucleotide variant |
Benign neonatal seizures [RCV000931061] |
Chr8:132129883 [GRCh38]
Chr8:133142130 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.429C>A (p.Thr143=) |
single nucleotide variant |
Benign neonatal seizures [RCV001394546] |
Chr8:132186139 [GRCh38]
Chr8:133198386 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.723C>T (p.Asp241=) |
single nucleotide variant |
Benign neonatal seizures [RCV001500605] |
Chr8:132180211 [GRCh38]
Chr8:133192458 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2076C>A (p.Pro692=) |
single nucleotide variant |
not provided [RCV000941251] |
Chr8:132129805 [GRCh38]
Chr8:133142052 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.690C>T (p.Arg230=) |
single nucleotide variant |
Benign neonatal seizures [RCV000916322] |
Chr8:132180244 [GRCh38]
Chr8:133192491 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.855C>T (p.Asp285=) |
single nucleotide variant |
Benign neonatal seizures [RCV000873933]|Seizures, benign familial neonatal, 2 [RCV001160991]|not provided [RCV002512129] |
Chr8:132175531 [GRCh38]
Chr8:133187778 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1812T>C (p.Tyr604=) |
single nucleotide variant |
Benign neonatal seizures [RCV000910375] |
Chr8:132132252 [GRCh38]
Chr8:133144499 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.153G>C (p.Glu51Asp) |
single nucleotide variant |
Benign neonatal seizures [RCV001034787] |
Chr8:132480380 [GRCh38]
Chr8:133492627 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.358G>T (p.Gly120Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV001235517]|KCNQ3-related disorder [RCV004727023] |
Chr8:132480175 [GRCh38]
Chr8:133492422 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*7160C>G |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159003] |
Chr8:132122102 [GRCh38]
Chr8:133134349 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*6142T>C |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159100] |
Chr8:132123120 [GRCh38]
Chr8:133135367 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*5971C>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159103]|not provided [RCV003438689] |
Chr8:132123291 [GRCh38]
Chr8:133135538 [GRCh37]
Chr8:8q24.22 |
benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His) |
single nucleotide variant |
Benign neonatal seizures [RCV001203500]|Seizures, benign familial neonatal, 2 [RCV001291726]|not provided [RCV001565213] |
Chr8:132172647 [GRCh38]
Chr8:133184894 [GRCh37]
Chr8:8q24.22 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.*6384A>G |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162003] |
Chr8:132122878 [GRCh38]
Chr8:133135125 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*5004G>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162091] |
Chr8:132124258 [GRCh38]
Chr8:133136505 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*740A>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162386] |
Chr8:132128522 [GRCh38]
Chr8:133140769 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1568+15G>A |
single nucleotide variant |
Benign neonatal seizures [RCV002068000]|Seizures, benign familial neonatal, 2 [RCV001164532] |
Chr8:132140061 [GRCh38]
Chr8:133152308 [GRCh37]
Chr8:8q24.22 |
benign|likely benign |
| NM_004519.4(KCNQ3):c.1332A>G (p.Leu444=) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159604] |
Chr8:132141262 [GRCh38]
Chr8:133153509 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.91G>A (p.Gly31Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV001227483]|KCNQ3-related disorder [RCV003953590]|not provided [RCV002466642] |
Chr8:132480442 [GRCh38]
Chr8:133492689 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.101C>A (p.Ala34Glu) |
single nucleotide variant |
not provided [RCV001092149] |
Chr8:132480432 [GRCh38]
Chr8:133492679 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*5622C>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001160457] |
Chr8:132123640 [GRCh38]
Chr8:133135887 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1722del (p.Gly575fs) |
deletion |
Benign neonatal seizures [RCV001043722] |
Chr8:132134367 [GRCh38]
Chr8:133146614 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.*838C>G |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001160763] |
Chr8:132128424 [GRCh38]
Chr8:133140671 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1624G>A (p.Asp542Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV001209712]|not specified [RCV002282483] |
Chr8:132137961 [GRCh38]
Chr8:133150208 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.421G>A (p.Val141Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV001225073]|not provided [RCV004762001] |
Chr8:132186147 [GRCh38]
Chr8:133198394 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.769C>T (p.His257Tyr) |
single nucleotide variant |
Benign neonatal seizures [RCV001206982] |
Chr8:132180165 [GRCh38]
Chr8:133192412 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2078C>T (p.Pro693Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV001206984]|Inborn genetic diseases [RCV002418691] |
Chr8:132129803 [GRCh38]
Chr8:133142050 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.231G>A (p.Gly77=) |
single nucleotide variant |
Benign neonatal seizures [RCV000890644]|Seizures, benign familial neonatal, 2 [RCV001162578]|not provided [RCV003438563] |
Chr8:132480302 [GRCh38]
Chr8:133492549 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.1466-6T>C |
single nucleotide variant |
not provided [RCV000914012] |
Chr8:132140184 [GRCh38]
Chr8:133152431 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1611T>C (p.Thr537=) |
single nucleotide variant |
not provided [RCV000935944] |
Chr8:132137974 [GRCh38]
Chr8:133150221 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.933G>A (p.Leu311=) |
single nucleotide variant |
not provided [RCV001531718] |
Chr8:132175453 [GRCh38]
Chr8:133187700 [GRCh37]
Chr8:8q24.22 |
likely pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.1003A>G (p.Thr335Ala) |
single nucleotide variant |
not provided [RCV004701981] |
Chr8:132174280 [GRCh38]
Chr8:133186527 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.-328C>A |
single nucleotide variant |
not provided [RCV001562991] |
Chr8:132480860 [GRCh38]
Chr8:133493107 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1885-104dup |
duplication |
not provided [RCV001637599] |
Chr8:132130084..132130085 [GRCh38]
Chr8:133142331..133142332 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1216G>T (p.Val406Phe) |
single nucleotide variant |
not provided [RCV002464886] |
Chr8:132170353 [GRCh38]
Chr8:133182600 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913) |
copy number gain |
Distal trisomy 8q [RCV003325441] |
Chr8:131138343..143473913 [GRCh37]
Chr8:8q24.21-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.1884+102G>T |
single nucleotide variant |
not provided [RCV001609042] |
Chr8:132132078 [GRCh38]
Chr8:133144325 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1140+163GT[17] |
microsatellite |
not provided [RCV001717749] |
Chr8:132172398..132172401 [GRCh38]
Chr8:133184645..133184648 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1885-88C>A |
single nucleotide variant |
not provided [RCV001560090] |
Chr8:132130084 [GRCh38]
Chr8:133142331 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.778-47A>G |
single nucleotide variant |
not provided [RCV001568662] |
Chr8:132175655 [GRCh38]
Chr8:133187902 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1701-238C>T |
single nucleotide variant |
not provided [RCV001555113] |
Chr8:132134626 [GRCh38]
Chr8:133146873 [GRCh37]
Chr8:8q24.22 |
likely benign |
| GRCh37/hg19 8q24.22(chr8:132732273-133269561)x3 |
copy number gain |
not provided [RCV002472734] |
Chr8:132732273..133269561 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.59G>A (p.Gly20Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003253378] |
Chr8:132480474 [GRCh38]
Chr8:133492721 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 |
copy number gain |
not provided [RCV001006146] |
Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.1235+70G>A |
single nucleotide variant |
not provided [RCV001713460] |
Chr8:132170264 [GRCh38]
Chr8:133182511 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1568+218A>G |
single nucleotide variant |
not provided [RCV001655290] |
Chr8:132139858 [GRCh38]
Chr8:133152105 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1569-156A>G |
single nucleotide variant |
not provided [RCV001616066] |
Chr8:132138172 [GRCh38]
Chr8:133150419 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.387-244T>C |
single nucleotide variant |
not provided [RCV001597756] |
Chr8:132186425 [GRCh38]
Chr8:133198672 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1885-88C>G |
single nucleotide variant |
not provided [RCV001674962] |
Chr8:132130084 [GRCh38]
Chr8:133142331 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1569-157C>T |
single nucleotide variant |
not provided [RCV001719309] |
Chr8:132138173 [GRCh38]
Chr8:133150420 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.386+154GT[18] |
microsatellite |
not provided [RCV001676380] |
Chr8:132479950..132479957 [GRCh38]
Chr8:133492197..133492204 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.386+154GT[24] |
microsatellite |
not provided [RCV001719347] |
Chr8:132479949..132479950 [GRCh38]
Chr8:133492196..133492197 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1700+165C>T |
single nucleotide variant |
not provided [RCV001650099] |
Chr8:132137720 [GRCh38]
Chr8:133149967 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1044+195A>G |
single nucleotide variant |
not provided [RCV001545816] |
Chr8:132174044 [GRCh38]
Chr8:133186291 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1140+163GT[18] |
microsatellite |
not provided [RCV001718357] |
Chr8:132172398..132172399 [GRCh38]
Chr8:133184645..133184646 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.605-81A>T |
single nucleotide variant |
not provided [RCV001673458] |
Chr8:132180410 [GRCh38]
Chr8:133192657 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1132C>G (p.Leu378Val) |
single nucleotide variant |
not provided [RCV001658830] |
Chr8:132172606 [GRCh38]
Chr8:133184853 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1236-25T>A |
single nucleotide variant |
not provided [RCV001596610] |
Chr8:132163519 [GRCh38]
Chr8:133175766 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1490C>T (p.Ala497Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001070119] |
Chr8:132140154 [GRCh38]
Chr8:133152401 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.656G>T (p.Gly219Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001070169] |
Chr8:132180278 [GRCh38]
Chr8:133192525 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*7044C>G |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001160344] |
Chr8:132122218 [GRCh38]
Chr8:133134465 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*4036G>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001160568] |
Chr8:132125226 [GRCh38]
Chr8:133137473 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*2556C>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001160667] |
Chr8:132126706 [GRCh38]
Chr8:133138953 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*2393A>G |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001160669] |
Chr8:132126869 [GRCh38]
Chr8:133139116 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.680G>A (p.Arg227Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV001879865]|Seizures, benign familial neonatal, 2 [RCV001253121]|not provided [RCV003148958] |
Chr8:132180254 [GRCh38]
Chr8:133192501 [GRCh37]
Chr8:8q24.22 |
pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.*5423T>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162089] |
Chr8:132123839 [GRCh38]
Chr8:133136086 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*755T>C |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162384] |
Chr8:132128507 [GRCh38]
Chr8:133140754 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*2092G>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162283] |
Chr8:132127170 [GRCh38]
Chr8:133139417 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*2026G>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162285] |
Chr8:132127236 [GRCh38]
Chr8:133139483 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1788G>A (p.Gln596=) |
single nucleotide variant |
Benign neonatal seizures [RCV001425080]|Seizures, benign familial neonatal, 2 [RCV001162486] |
Chr8:132134301 [GRCh38]
Chr8:133146548 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.2507G>A (p.Gly836Asp) |
single nucleotide variant |
Benign neonatal seizures [RCV001036552] |
Chr8:132129374 [GRCh38]
Chr8:133141621 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.758C>G (p.Ala253Gly) |
single nucleotide variant |
Benign neonatal seizures [RCV001066633] |
Chr8:132180176 [GRCh38]
Chr8:133192423 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*1070T>C |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001160761] |
Chr8:132128192 [GRCh38]
Chr8:133140439 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*991G>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001160762] |
Chr8:132128271 [GRCh38]
Chr8:133140518 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2014A>G (p.Lys672Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV003748311]|Seizures, benign familial neonatal, 2 [RCV001160875] |
Chr8:132129867 [GRCh38]
Chr8:133142114 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1404T>A (p.Asn468Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV001067258] |
Chr8:132141190 [GRCh38]
Chr8:133153437 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.99GGC[4] (p.Ala36dup) |
microsatellite |
Benign neonatal seizures [RCV001066957] |
Chr8:132480425..132480426 [GRCh38]
Chr8:133492672..133492673 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*7204G>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159002] |
Chr8:132122058 [GRCh38]
Chr8:133134305 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*6042A>G |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159101] |
Chr8:132123220 [GRCh38]
Chr8:133135467 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*6035G>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159102] |
Chr8:132123227 [GRCh38]
Chr8:133135474 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*4795A>G |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159206] |
Chr8:132124467 [GRCh38]
Chr8:133136714 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*1184A>C |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159399] |
Chr8:132128078 [GRCh38]
Chr8:133140325 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*1340C>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159397] |
Chr8:132127922 [GRCh38]
Chr8:133140169 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*1308C>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159398] |
Chr8:132127954 [GRCh38]
Chr8:133140201 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.178G>A (p.Gly60Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV001211618] |
Chr8:132480355 [GRCh38]
Chr8:133492602 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*6913A>G |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001160345] |
Chr8:132122349 [GRCh38]
Chr8:133134596 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*4122A>G |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001160567] |
Chr8:132125140 [GRCh38]
Chr8:133137387 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.386+154GT[21] |
microsatellite |
not provided [RCV001684457] |
Chr8:132479950..132479951 [GRCh38]
Chr8:133492197..133492198 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1490C>A (p.Ala497Glu) |
single nucleotide variant |
not provided [RCV001583211] |
Chr8:132140154 [GRCh38]
Chr8:133152401 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.386+33185dup |
duplication |
not provided [RCV001611358] |
Chr8:132446958..132446959 [GRCh38]
Chr8:133459205..133459206 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1465+106A>T |
single nucleotide variant |
not provided [RCV001584798] |
Chr8:132141023 [GRCh38]
Chr8:133153270 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1701-168_1701-164del |
microsatellite |
not provided [RCV001714256] |
Chr8:132134552..132134556 [GRCh38]
Chr8:133146799..133146803 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1885-51G>A |
single nucleotide variant |
not provided [RCV001662968] |
Chr8:132130047 [GRCh38]
Chr8:133142294 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*2143G>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162282] |
Chr8:132127119 [GRCh38]
Chr8:133139366 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*2044C>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162284] |
Chr8:132127218 [GRCh38]
Chr8:133139465 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1885-52C>T |
single nucleotide variant |
not provided [RCV001582251] |
Chr8:132130048 [GRCh38]
Chr8:133142295 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1044+224T>C |
single nucleotide variant |
not provided [RCV001725628] |
Chr8:132174015 [GRCh38]
Chr8:133186262 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1404T>G (p.Asn468Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV001217214] |
Chr8:132141190 [GRCh38]
Chr8:133153437 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.847G>C (p.Glu283Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV001246680] |
Chr8:132175539 [GRCh38]
Chr8:133187786 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2060A>T (p.Tyr687Phe) |
single nucleotide variant |
Benign neonatal seizures [RCV001219677] |
Chr8:132129821 [GRCh38]
Chr8:133142068 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1220_1221del (p.Ser407fs) |
microsatellite |
Benign neonatal seizures [RCV001041672] |
Chr8:132170348..132170349 [GRCh38]
Chr8:133182595..133182596 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.2329dup (p.Arg777fs) |
duplication |
Benign neonatal seizures [RCV001214920] |
Chr8:132129551..132129552 [GRCh38]
Chr8:133141798..133141799 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2248A>G (p.Ile750Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001056664] |
Chr8:132129633 [GRCh38]
Chr8:133141880 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*6725A>C |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162000] |
Chr8:132122537 [GRCh38]
Chr8:133134784 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*717C>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162387] |
Chr8:132128545 [GRCh38]
Chr8:133140792 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*660G>C |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162388] |
Chr8:132128602 [GRCh38]
Chr8:133140849 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1698G>A (p.Thr566=) |
single nucleotide variant |
Benign neonatal seizures [RCV001481288]|not provided [RCV001200487] |
Chr8:132137887 [GRCh38]
Chr8:133150134 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2270G>A (p.Arg757Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV001057266] |
Chr8:132129611 [GRCh38]
Chr8:133141858 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1045-1G>T |
single nucleotide variant |
Benign neonatal seizures [RCV001058007] |
Chr8:132172694 [GRCh38]
Chr8:133184941 [GRCh37]
Chr8:8q24.22 |
likely pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.2078dup (p.Glu694fs) |
duplication |
Benign neonatal seizures [RCV001216658]|not provided [RCV004768924] |
Chr8:132129802..132129803 [GRCh38]
Chr8:133142049..133142050 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.61G>A (p.Gly21Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV001039910] |
Chr8:132480472 [GRCh38]
Chr8:133492719 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*1937A>G |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001164316] |
Chr8:132127325 [GRCh38]
Chr8:133139572 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1769C>T (p.Ala590Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001234138] |
Chr8:132134320 [GRCh38]
Chr8:133146567 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 |
copy number gain |
not provided [RCV001006140] |
Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.1888C>A (p.Gln630Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV001039814] |
Chr8:132129993 [GRCh38]
Chr8:133142240 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2534T>C (p.Phe845Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV001054430]|not provided [RCV001759800] |
Chr8:132129347 [GRCh38]
Chr8:133141594 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*4456A>C |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159208]|not provided [RCV003438691] |
Chr8:132124806 [GRCh38]
Chr8:133137053 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.*4279C>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159209] |
Chr8:132124983 [GRCh38]
Chr8:133137230 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.*3066A>G |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001159304] |
Chr8:132126196 [GRCh38]
Chr8:133138443 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.98C>T (p.Ala33Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001036330]|Inborn genetic diseases [RCV003346260]|not specified [RCV003479270] |
Chr8:132480435 [GRCh38]
Chr8:133492682 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.*7461G>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001163934] |
Chr8:132121801 [GRCh38]
Chr8:133134048 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.403G>C (p.Gly135Arg) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001197333] |
Chr8:132186165 [GRCh38]
Chr8:133198412 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*82C>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001164434] |
Chr8:132129180 [GRCh38]
Chr8:133141427 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*2555G>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001160668] |
Chr8:132126707 [GRCh38]
Chr8:133138954 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2382G>A (p.Ser794=) |
single nucleotide variant |
Benign neonatal seizures [RCV001062696] |
Chr8:132129499 [GRCh38]
Chr8:133141746 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.989G>A (p.Arg330His) |
single nucleotide variant |
Benign neonatal seizures [RCV001056634]|KCNQ3-related disorder [RCV003413871]|Seizures, benign familial neonatal, 2 [RCV001814261]|not provided [RCV002069564] |
Chr8:132174294 [GRCh38]
Chr8:133186541 [GRCh37]
Chr8:8q24.22 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_004519.4(KCNQ3):c.2344A>G (p.Ile782Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001070272] |
Chr8:132129537 [GRCh38]
Chr8:133141784 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2295C>A (p.Asp765Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV001203783]|Inborn genetic diseases [RCV004033588]|Seizures, benign familial neonatal, 2 [RCV002480662] |
Chr8:132129586 [GRCh38]
Chr8:133141833 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.*6665A>G |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162001] |
Chr8:132122597 [GRCh38]
Chr8:133134844 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*5454T>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001162088] |
Chr8:132123808 [GRCh38]
Chr8:133136055 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2057A>G (p.Asn686Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV001039398] |
Chr8:132129824 [GRCh38]
Chr8:133142071 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8q24.22(chr8:133176537-133891988)x1 |
copy number loss |
not provided [RCV001259030] |
Chr8:133176537..133891988 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.370C>G (p.Leu124Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001304439] |
Chr8:132480163 [GRCh38]
Chr8:133492410 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.688C>A (p.Arg230Ser) |
single nucleotide variant |
Intellectual disability [RCV001257730] |
Chr8:132180246 [GRCh38]
Chr8:133192493 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.1657G>A (p.Gly553Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV002508955]|Inborn genetic diseases [RCV002570626]|Intellectual disability [RCV001257731]|Seizures, benign familial neonatal, 2 [RCV001814296]|not provided [RCV004720828] |
Chr8:132137928 [GRCh38]
Chr8:133150175 [GRCh37]
Chr8:8q24.22 |
pathogenic|uncertain significance|not provided |
| NM_004519.4(KCNQ3):c.253A>C (p.Ile85Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV001257258] |
Chr8:132480280 [GRCh38]
Chr8:133492527 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1520C>G (p.Pro507Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV001298452]|Inborn genetic diseases [RCV002541863]|Seizures, benign familial neonatal, 2 [RCV003444153] |
Chr8:132140124 [GRCh38]
Chr8:133152371 [GRCh37]
Chr8:8q24.22 |
uncertain significance|not provided |
| NM_004519.4(KCNQ3):c.707G>A (p.Arg236His) |
single nucleotide variant |
Benign neonatal seizures [RCV001326722] |
Chr8:132180227 [GRCh38]
Chr8:133192474 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2336G>A (p.Arg779Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV001316195] |
Chr8:132129545 [GRCh38]
Chr8:133141792 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NC_000008.10:g.(?_133141499)_(133198438_?)dup |
duplication |
Benign familial neonatal seizures [RCV001295821] |
Chr8:133141499..133198438 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1838T>C (p.Ile613Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV001298356] |
Chr8:132132226 [GRCh38]
Chr8:133144473 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1710G>A (p.Met570Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV001315281] |
Chr8:132134379 [GRCh38]
Chr8:133146626 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.38GCG[1] (p.Gly14_Gly16del) |
microsatellite |
Benign neonatal seizures [RCV001321444] |
Chr8:132480484..132480492 [GRCh38]
Chr8:133492731..133492739 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.353C>T (p.Pro118Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV001299832] |
Chr8:132480180 [GRCh38]
Chr8:133492427 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.938C>T (p.Thr313Ile) |
single nucleotide variant |
not provided [RCV001310640] |
Chr8:132174345 [GRCh38]
Chr8:133186592 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NM_004519.4(KCNQ3):c.947C>A (p.Thr316Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV001295062] |
Chr8:132174336 [GRCh38]
Chr8:133186583 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.566G>A (p.Gly189Asp) |
single nucleotide variant |
Benign neonatal seizures [RCV001340786] |
Chr8:132184279 [GRCh38]
Chr8:133196526 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.386+49786C>G |
single nucleotide variant |
not specified [RCV004598487] |
Chr8:132430361 [GRCh38]
Chr8:133442608 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.251G>T (p.Gly84Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001313926] |
Chr8:132480282 [GRCh38]
Chr8:133492529 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.899T>G (p.Phe300Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV001295310] |
Chr8:132175487 [GRCh38]
Chr8:133187734 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.548G>A (p.Arg183Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV001372428] |
Chr8:132184297 [GRCh38]
Chr8:133196544 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2588C>G (p.Ser863Ter) |
single nucleotide variant |
Benign neonatal seizures [RCV001367539] |
Chr8:132129293 [GRCh38]
Chr8:133141540 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1280T>C (p.Leu427Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV001314490]|not provided [RCV001760380] |
Chr8:132141314 [GRCh38]
Chr8:133153561 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.404G>A (p.Gly135Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV001372739] |
Chr8:132186164 [GRCh38]
Chr8:133198411 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.477G>A (p.Leu159=) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001334268] |
Chr8:132186091 [GRCh38]
Chr8:133198338 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.114C>G (p.Asp38Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV001349583] |
Chr8:132480419 [GRCh38]
Chr8:133492666 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1803T>G (p.Asn601Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV001313358] |
Chr8:132132261 [GRCh38]
Chr8:133144508 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1582C>T (p.Arg528Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV001337248]|Seizures, benign familial neonatal, 2 [RCV001706729] |
Chr8:132138003 [GRCh38]
Chr8:133150250 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1688A>T (p.Tyr563Phe) |
single nucleotide variant |
Benign neonatal seizures [RCV001362923] |
Chr8:132137897 [GRCh38]
Chr8:133150144 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2016GGA[1] (p.Glu673del) |
microsatellite |
Benign neonatal seizures [RCV001364713]|Inborn genetic diseases [RCV002420801] |
Chr8:132129860..132129862 [GRCh38]
Chr8:133142107..133142109 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1099C>A (p.His367Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV001314478] |
Chr8:132172639 [GRCh38]
Chr8:133184886 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1418G>A (p.Arg473His) |
single nucleotide variant |
Benign neonatal seizures [RCV001346484] |
Chr8:132141176 [GRCh38]
Chr8:133153423 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.745C>T (p.Leu249Phe) |
single nucleotide variant |
Benign neonatal seizures [RCV001364156] |
Chr8:132180189 [GRCh38]
Chr8:133192436 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.964A>C (p.Lys322Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV001300028] |
Chr8:132174319 [GRCh38]
Chr8:133186566 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1972T>A (p.Tyr658Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV001343797] |
Chr8:132129909 [GRCh38]
Chr8:133142156 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1763G>C (p.Gly588Ala) |
single nucleotide variant |
Benign neonatal seizures [RCV001365262] |
Chr8:132134326 [GRCh38]
Chr8:133146573 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.70G>A (p.Gly24Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV001372159] |
Chr8:132480463 [GRCh38]
Chr8:133492710 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1884G>A (p.Gln628=) |
single nucleotide variant |
Benign neonatal seizures [RCV001363015] |
Chr8:132132180 [GRCh38]
Chr8:133144427 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NC_000008.10:g.(?_133141509)_(133198438_?)del |
deletion |
Benign neonatal seizures [RCV001374109] |
Chr8:133141509..133198438 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV001368791] |
Chr8:132480531 [GRCh38]
Chr8:133492778 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.50_58dup (p.Asp17_Gly19dup) |
duplication |
Benign neonatal seizures [RCV001322178]|not provided [RCV001586123] |
Chr8:132480474..132480475 [GRCh38]
Chr8:133492721..133492722 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.116A>G (p.Glu39Gly) |
single nucleotide variant |
Benign neonatal seizures [RCV001344130]|KCNQ3-related disorder [RCV003405576] |
Chr8:132480417 [GRCh38]
Chr8:133492664 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.413T>C (p.Ile138Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV001346213] |
Chr8:132186155 [GRCh38]
Chr8:133198402 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.404G>T (p.Gly135Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001344255] |
Chr8:132186164 [GRCh38]
Chr8:133198411 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.508G>A (p.Glu170Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV001340031] |
Chr8:132184337 [GRCh38]
Chr8:133196584 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1583_1585dup (p.Arg528dup) |
duplication |
Benign neonatal seizures [RCV001347663] |
Chr8:132137999..132138000 [GRCh38]
Chr8:133150246..133150247 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1766C>T (p.Ser589Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV001324873] |
Chr8:132134323 [GRCh38]
Chr8:133146570 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.607A>G (p.Ile203Val) |
single nucleotide variant |
Benign neonatal seizures [RCV001314128] |
Chr8:132180327 [GRCh38]
Chr8:133192574 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.63_71del (p.Gly22_Gly24del) |
deletion |
Benign neonatal seizures [RCV001347911] |
Chr8:132480462..132480470 [GRCh38]
Chr8:133492709..133492717 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.777A>G (p.Lys259=) |
single nucleotide variant |
Benign neonatal seizures [RCV001323565]|KCNQ3-related disorder [RCV003938630] |
Chr8:132180157 [GRCh38]
Chr8:133192404 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.38GCG[2] (p.Gly15_Gly16del) |
microsatellite |
Benign neonatal seizures [RCV001364271] |
Chr8:132480484..132480489 [GRCh38]
Chr8:133492731..133492736 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.706C>T (p.Arg236Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV001341609] |
Chr8:132180228 [GRCh38]
Chr8:133192475 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1800-9T>G |
single nucleotide variant |
Benign neonatal seizures [RCV001343257] |
Chr8:132132273 [GRCh38]
Chr8:133144520 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.605-3C>T |
single nucleotide variant |
Benign neonatal seizures [RCV001322699] |
Chr8:132180332 [GRCh38]
Chr8:133192579 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.604+6T>C |
single nucleotide variant |
Benign neonatal seizures [RCV001366116] |
Chr8:132184235 [GRCh38]
Chr8:133196482 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2269C>T (p.Arg757Ter) |
single nucleotide variant |
Benign neonatal seizures [RCV001366608]|not provided [RCV003156342] |
Chr8:132129612 [GRCh38]
Chr8:133141859 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1144G>A (p.Ala382Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV001367178] |
Chr8:132170425 [GRCh38]
Chr8:133182672 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.813A>G (p.Thr271=) |
single nucleotide variant |
Benign neonatal seizures [RCV001412798] |
Chr8:132175573 [GRCh38]
Chr8:133187820 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.104_105del (p.Ala35fs) |
deletion |
Seizures, benign familial neonatal, 2 [RCV001293850] |
Chr8:132480428..132480429 [GRCh38]
Chr8:133492675..133492676 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NM_004519.4(KCNQ3):c.193G>C (p.Gly65Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV001359209] |
Chr8:132480340 [GRCh38]
Chr8:133492587 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1558C>T (p.Arg520Ter) |
single nucleotide variant |
Benign neonatal seizures [RCV001380160] |
Chr8:132140086 [GRCh38]
Chr8:133152333 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.67G>A (p.Gly23Ser) |
single nucleotide variant |
not provided [RCV001509349] |
Chr8:132480466 [GRCh38]
Chr8:133492713 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1191G>A (p.Ala397=) |
single nucleotide variant |
Benign neonatal seizures [RCV001441666] |
Chr8:132170378 [GRCh38]
Chr8:133182625 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.717G>A (p.Arg239=) |
single nucleotide variant |
Benign neonatal seizures [RCV001441956] |
Chr8:132180217 [GRCh38]
Chr8:133192464 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1701-216G>C |
single nucleotide variant |
not provided [RCV001538792] |
Chr8:132134604 [GRCh38]
Chr8:133146851 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.339C>T (p.Asp113=) |
single nucleotide variant |
Benign neonatal seizures [RCV001500505] |
Chr8:132480194 [GRCh38]
Chr8:133492441 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1141-5del |
deletion |
Benign neonatal seizures [RCV001493154] |
Chr8:132170433 [GRCh38]
Chr8:133182680 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2469G>T (p.Gly823=) |
single nucleotide variant |
Benign neonatal seizures [RCV001493548] |
Chr8:132129412 [GRCh38]
Chr8:133141659 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1056G>A (p.Gly352=) |
single nucleotide variant |
Benign neonatal seizures [RCV001445884] |
Chr8:132172682 [GRCh38]
Chr8:133184929 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.768C>G (p.Ala256=) |
single nucleotide variant |
Benign neonatal seizures [RCV001409409] |
Chr8:132180166 [GRCh38]
Chr8:133192413 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.801C>T (p.Ile267=) |
single nucleotide variant |
Benign neonatal seizures [RCV001446074] |
Chr8:132175585 [GRCh38]
Chr8:133187832 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1470C>T (p.Ala490=) |
single nucleotide variant |
Benign neonatal seizures [RCV001443993] |
Chr8:132140174 [GRCh38]
Chr8:133152421 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2220G>A (p.Thr740=) |
single nucleotide variant |
Benign neonatal seizures [RCV001441814] |
Chr8:132129661 [GRCh38]
Chr8:133141908 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1467T>C (p.Asp489=) |
single nucleotide variant |
Benign neonatal seizures [RCV001447010] |
Chr8:132140177 [GRCh38]
Chr8:133152424 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1263-8T>C |
single nucleotide variant |
Benign neonatal seizures [RCV001434601] |
Chr8:132141339 [GRCh38]
Chr8:133153586 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.918C>T (p.Ala306=) |
single nucleotide variant |
Benign neonatal seizures [RCV001447410] |
Chr8:132175468 [GRCh38]
Chr8:133187715 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.936C>A (p.Ile312=) |
single nucleotide variant |
Benign neonatal seizures [RCV001437942] |
Chr8:132174347 [GRCh38]
Chr8:133186594 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.36T>A (p.Ala12=) |
single nucleotide variant |
Benign neonatal seizures [RCV001403997] |
Chr8:132480497 [GRCh38]
Chr8:133492744 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1206T>A (p.Tyr402Ter) |
single nucleotide variant |
Benign neonatal seizures [RCV001385622] |
Chr8:132170363 [GRCh38]
Chr8:133182610 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.1374T>C (p.Ser458=) |
single nucleotide variant |
Benign neonatal seizures [RCV001432071] |
Chr8:132141220 [GRCh38]
Chr8:133153467 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2472G>C (p.Ser824=) |
single nucleotide variant |
Benign neonatal seizures [RCV001448273]|not provided [RCV003438799] |
Chr8:132129409 [GRCh38]
Chr8:133141656 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.934-153G>C |
single nucleotide variant |
not provided [RCV001671107] |
Chr8:132174502 [GRCh38]
Chr8:133186749 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.489T>C (p.Ala163=) |
single nucleotide variant |
Benign neonatal seizures [RCV001468799] |
Chr8:132184356 [GRCh38]
Chr8:133196603 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.999C>T (p.Ala333=) |
single nucleotide variant |
Benign neonatal seizures [RCV001486177] |
Chr8:132174284 [GRCh38]
Chr8:133186531 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.386+154GT[23] |
microsatellite |
not provided [RCV001669240] |
Chr8:132479949..132479950 [GRCh38]
Chr8:133492196..133492197 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.933+259T>G |
single nucleotide variant |
not provided [RCV001651722] |
Chr8:132175194 [GRCh38]
Chr8:133187441 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.2100C>T (p.His700=) |
single nucleotide variant |
Benign neonatal seizures [RCV001455950] |
Chr8:132129781 [GRCh38]
Chr8:133142028 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1399A>G (p.Asn467Asp) |
single nucleotide variant |
Benign neonatal seizures [RCV002570640]|not provided [RCV001539281] |
Chr8:132141195 [GRCh38]
Chr8:133153442 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1885-87A>C |
single nucleotide variant |
not provided [RCV001715633] |
Chr8:132130083 [GRCh38]
Chr8:133142330 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1044+233C>T |
single nucleotide variant |
not provided [RCV001654754] |
Chr8:132174006 [GRCh38]
Chr8:133186253 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.939A>G (p.Thr313=) |
single nucleotide variant |
Benign neonatal seizures [RCV001477553] |
Chr8:132174344 [GRCh38]
Chr8:133186591 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1140+163GT[23] |
microsatellite |
not provided [RCV001675121] |
Chr8:132172397..132172398 [GRCh38]
Chr8:133184644..133184645 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1236-230C>G |
single nucleotide variant |
not provided [RCV001614306] |
Chr8:132163724 [GRCh38]
Chr8:133175971 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1884+81T>C |
single nucleotide variant |
not provided [RCV001670390] |
Chr8:132132099 [GRCh38]
Chr8:133144346 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.478-10T>G |
single nucleotide variant |
Benign neonatal seizures [RCV001498811] |
Chr8:132184377 [GRCh38]
Chr8:133196624 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2025C>T (p.Asn675=) |
single nucleotide variant |
Benign neonatal seizures [RCV001458081] |
Chr8:132129856 [GRCh38]
Chr8:133142103 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2229G>A (p.Glu743=) |
single nucleotide variant |
Benign neonatal seizures [RCV001417338] |
Chr8:132129652 [GRCh38]
Chr8:133141899 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2460C>T (p.Pro820=) |
single nucleotide variant |
Benign neonatal seizures [RCV001502141] |
Chr8:132129421 [GRCh38]
Chr8:133141668 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1818C>T (p.Ala606=) |
single nucleotide variant |
Benign neonatal seizures [RCV001485842] |
Chr8:132132246 [GRCh38]
Chr8:133144493 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1839C>A (p.Ile613=) |
single nucleotide variant |
Benign neonatal seizures [RCV001401613] |
Chr8:132132225 [GRCh38]
Chr8:133144472 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2355C>T (p.Asp785=) |
single nucleotide variant |
Benign neonatal seizures [RCV001473658] |
Chr8:132129526 [GRCh38]
Chr8:133141773 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.537A>T (p.Gly179=) |
single nucleotide variant |
Benign neonatal seizures [RCV001471051] |
Chr8:132184308 [GRCh38]
Chr8:133196555 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1569-8C>T |
single nucleotide variant |
Benign neonatal seizures [RCV001471142] |
Chr8:132138024 [GRCh38]
Chr8:133150271 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1272G>A (p.Leu424=) |
single nucleotide variant |
Benign neonatal seizures [RCV001460736] |
Chr8:132141322 [GRCh38]
Chr8:133153569 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1128T>G (p.Ala376=) |
single nucleotide variant |
Benign neonatal seizures [RCV001406366] |
Chr8:132172610 [GRCh38]
Chr8:133184857 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.912A>C (p.Ala304=) |
single nucleotide variant |
Benign neonatal seizures [RCV001399944] |
Chr8:132175474 [GRCh38]
Chr8:133187721 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.213C>T (p.Gly71=) |
single nucleotide variant |
Benign neonatal seizures [RCV001514092] |
Chr8:132480320 [GRCh38]
Chr8:133492567 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.929G>A (p.Gly310Asp) |
single nucleotide variant |
Benign neonatal seizures [RCV001378393] |
Chr8:132175457 [GRCh38]
Chr8:133187704 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NM_004519.4(KCNQ3):c.336C>T (p.Tyr112=) |
single nucleotide variant |
Benign neonatal seizures [RCV001432421] |
Chr8:132480197 [GRCh38]
Chr8:133492444 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NC_000008.10:g.(?_133141509)_(134296554_?)del |
deletion |
Benign neonatal seizures [RCV001383836] |
Chr8:133141509..134296554 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.180A>G (p.Gly60=) |
single nucleotide variant |
Benign neonatal seizures [RCV001466290] |
Chr8:132480353 [GRCh38]
Chr8:133492600 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NC_000008.10:g.(?_133141509)_(133492779_?)del |
deletion |
Benign neonatal seizures [RCV001383837] |
Chr8:133141509..133492779 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.1123G>A (p.Ala375Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV001378943] |
Chr8:132172615 [GRCh38]
Chr8:133184862 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NM_004519.4(KCNQ3):c.267C>T (p.Ala89=) |
single nucleotide variant |
Benign neonatal seizures [RCV001501284] |
Chr8:132480266 [GRCh38]
Chr8:133492513 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.48C>G (p.Gly16=) |
single nucleotide variant |
Benign neonatal seizures [RCV001438964]|not provided [RCV001664879] |
Chr8:132480485 [GRCh38]
Chr8:133492732 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.386+48G>A |
single nucleotide variant |
not provided [RCV001732727] |
Chr8:132480099 [GRCh38]
Chr8:133492346 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.977C>T (p.Thr326Met) |
single nucleotide variant |
Benign neonatal seizures [RCV003748369]|not provided [RCV002247174] |
Chr8:132174306 [GRCh38]
Chr8:133186553 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.-6A>G |
single nucleotide variant |
not provided [RCV001732513] |
Chr8:132480538 [GRCh38]
Chr8:133492785 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.40G>A (p.Gly14Ser) |
single nucleotide variant |
not provided [RCV002273406] |
Chr8:132480493 [GRCh38]
Chr8:133492740 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8q24.22(chr8:133055346-133267468)x3 |
copy number gain |
not provided [RCV001833030] |
Chr8:133055346..133267468 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2093G>A (p.Ser698Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV003120672]|Inborn genetic diseases [RCV002544052]|not provided [RCV001763396] |
Chr8:132129788 [GRCh38]
Chr8:133142035 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) |
copy number gain |
Polydactyly [RCV002280629] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.1066G>A (p.Ala356Thr) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001771817] |
Chr8:132172672 [GRCh38]
Chr8:133184919 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 |
copy number gain |
See cases [RCV002285066] |
Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.1706A>G (p.Asp569Gly) |
single nucleotide variant |
Benign neonatal seizures [RCV001885050]|Seizures, benign familial neonatal, 2 [RCV003320845]|not provided [RCV001769408] |
Chr8:132134383 [GRCh38]
Chr8:133146630 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2587T>G (p.Ser863Ala) |
single nucleotide variant |
Benign neonatal seizures [RCV002540267]|not provided [RCV001767038] |
Chr8:132129294 [GRCh38]
Chr8:133141541 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1700+28C>T |
single nucleotide variant |
not provided [RCV001787480] |
Chr8:132137857 [GRCh38]
Chr8:133150104 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1727C>G (p.Pro576Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV002540465]|not provided [RCV001763689] |
Chr8:132134362 [GRCh38]
Chr8:133146609 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1118A>C (p.Lys373Thr) |
single nucleotide variant |
not provided [RCV001773241] |
Chr8:132172620 [GRCh38]
Chr8:133184867 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1567A>G (p.Arg523Gly) |
single nucleotide variant |
not provided [RCV001765404] |
Chr8:132140077 [GRCh38]
Chr8:133152324 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1292G>A (p.Arg431His) |
single nucleotide variant |
not provided [RCV001786601] |
Chr8:132141302 [GRCh38]
Chr8:133153549 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1028T>C (p.Phe343Ser) |
single nucleotide variant |
not provided [RCV001774485] |
Chr8:132174255 [GRCh38]
Chr8:133186502 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1621del (p.Tyr541fs) |
deletion |
Benign neonatal seizures [RCV003586306]|not provided [RCV001768568] |
Chr8:132137964 [GRCh38]
Chr8:133150211 [GRCh37]
Chr8:8q24.22 |
pathogenic|uncertain significance |
| NM_004519.4(KCNQ3):c.1625A>G (p.Asp542Gly) |
single nucleotide variant |
not provided [RCV001768571] |
Chr8:132137960 [GRCh38]
Chr8:133150207 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1411C>T (p.Arg471Cys) |
single nucleotide variant |
not provided [RCV001773370] |
Chr8:132141183 [GRCh38]
Chr8:133153430 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8q24.21-24.3(chr8:128878931-141662233)x3 |
copy number gain |
not provided [RCV001795855] |
Chr8:128878931..141662233 [GRCh37]
Chr8:8q24.21-24.3 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2357G>C (p.Ser786Thr) |
single nucleotide variant |
not provided [RCV001752460] |
Chr8:132129524 [GRCh38]
Chr8:133141771 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.781C>T (p.Leu261Phe) |
single nucleotide variant |
Benign neonatal seizures [RCV001861056]|not provided [RCV001757830] |
Chr8:132175605 [GRCh38]
Chr8:133187852 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1339C>A (p.Pro447Thr) |
single nucleotide variant |
not provided [RCV001768867] |
Chr8:132141255 [GRCh38]
Chr8:133153502 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1721C>G (p.Pro574Arg) |
single nucleotide variant |
not provided [RCV001752765] |
Chr8:132134368 [GRCh38]
Chr8:133146615 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2392G>A (p.Glu798Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003197282] |
Chr8:132129489 [GRCh38]
Chr8:133141736 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2011AAG[1] (p.Lys672del) |
microsatellite |
Benign neonatal seizures [RCV002034657]|not provided [RCV001797271] |
Chr8:132129865..132129867 [GRCh38]
Chr8:133142112..133142114 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.386+32877T>C |
single nucleotide variant |
not provided [RCV001797383] |
Chr8:132447270 [GRCh38]
Chr8:133459517 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1019G>T (p.Gly340Val) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001814622] |
Chr8:132174264 [GRCh38]
Chr8:133186511 [GRCh37]
Chr8:8q24.22 |
not provided |
| NM_004519.4(KCNQ3):c.989G>T (p.Arg330Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV001869626]|Seizures, benign familial neonatal, 2 [RCV001814621] |
Chr8:132174294 [GRCh38]
Chr8:133186541 [GRCh37]
Chr8:8q24.22 |
pathogenic|not provided |
| NM_004519.4(KCNQ3):c.835G>T (p.Val279Phe) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV001814623] |
Chr8:132175551 [GRCh38]
Chr8:133187798 [GRCh37]
Chr8:8q24.22 |
not provided |
| NM_004519.4(KCNQ3):c.302A>G (p.Asn101Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV001988258] |
Chr8:132480231 [GRCh38]
Chr8:133492478 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1367G>A (p.Ser456Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV001874802] |
Chr8:132141227 [GRCh38]
Chr8:133153474 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1708A>G (p.Met570Val) |
single nucleotide variant |
Benign neonatal seizures [RCV002009225] |
Chr8:132134381 [GRCh38]
Chr8:133146628 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.589C>T (p.Pro197Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV002025557] |
Chr8:132184256 [GRCh38]
Chr8:133196503 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1989del (p.Ser664fs) |
deletion |
Benign neonatal seizures [RCV001987756] |
Chr8:132129892 [GRCh38]
Chr8:133142139 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2506G>A (p.Gly836Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV002007916]|Inborn genetic diseases [RCV002573428] |
Chr8:132129375 [GRCh38]
Chr8:133141622 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2513C>T (p.Thr838Met) |
single nucleotide variant |
Benign neonatal seizures [RCV001874257] |
Chr8:132129368 [GRCh38]
Chr8:133141615 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2478G>C (p.Trp826Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV001949985] |
Chr8:132129403 [GRCh38]
Chr8:133141650 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1855A>T (p.Met619Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV001988578] |
Chr8:132132209 [GRCh38]
Chr8:133144456 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.45_62del (p.Asp17_Gly22del) |
deletion |
Benign neonatal seizures [RCV001874789] |
Chr8:132480471..132480488 [GRCh38]
Chr8:133492718..133492735 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1132C>T (p.Leu378Phe) |
single nucleotide variant |
Benign neonatal seizures [RCV001965776] |
Chr8:132172606 [GRCh38]
Chr8:133184853 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.50_58del (p.Asp17_Gly19del) |
deletion |
Benign neonatal seizures [RCV001891001] |
Chr8:132480475..132480483 [GRCh38]
Chr8:133492722..133492730 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2545G>T (p.Gly849Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV001964816] |
Chr8:132129336 [GRCh38]
Chr8:133141583 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2290G>A (p.Ala764Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV002003775] |
Chr8:132129591 [GRCh38]
Chr8:133141838 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) |
copy number gain |
not specified [RCV002053797] |
Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.775A>G (p.Lys259Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV002040161] |
Chr8:132180159 [GRCh38]
Chr8:133192406 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2162C>A (p.Pro721His) |
single nucleotide variant |
Benign neonatal seizures [RCV001912758] |
Chr8:132129719 [GRCh38]
Chr8:133141966 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1954G>C (p.Val652Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV001911413] |
Chr8:132129927 [GRCh38]
Chr8:133142174 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1388C>T (p.Pro463Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV002043149] |
Chr8:132141206 [GRCh38]
Chr8:133153453 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2309A>G (p.Tyr770Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV001911208] |
Chr8:132129572 [GRCh38]
Chr8:133141819 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1663C>T (p.Leu555Phe) |
single nucleotide variant |
Benign neonatal seizures [RCV002020885] |
Chr8:132137922 [GRCh38]
Chr8:133150169 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.600G>T (p.Met200Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV001945848]|KCNQ3-related disorder [RCV003401911] |
Chr8:132184245 [GRCh38]
Chr8:133196492 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.142G>A (p.Gly48Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV001947641] |
Chr8:132480391 [GRCh38]
Chr8:133492638 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2072_2073delinsTA (p.Gly691Val) |
indel |
Benign neonatal seizures [RCV001987175] |
Chr8:132129808..132129809 [GRCh38]
Chr8:133142055..133142056 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) |
copy number gain |
not specified [RCV002053772] |
Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.951T>G (p.Ile317Met) |
single nucleotide variant |
Benign neonatal seizures [RCV001966051] |
Chr8:132174332 [GRCh38]
Chr8:133186579 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NM_004519.4(KCNQ3):c.1897G>A (p.Gly633Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV001969067] |
Chr8:132129984 [GRCh38]
Chr8:133142231 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.889A>G (p.Lys297Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV002020839]|Inborn genetic diseases [RCV002372810] |
Chr8:132175497 [GRCh38]
Chr8:133187744 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2534T>G (p.Phe845Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV001913751] |
Chr8:132129347 [GRCh38]
Chr8:133141594 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2035G>C (p.Asp679His) |
single nucleotide variant |
Benign neonatal seizures [RCV001913053] |
Chr8:132129846 [GRCh38]
Chr8:133142093 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1423del (p.Ala475fs) |
deletion |
Benign neonatal seizures [RCV002007389] |
Chr8:132141171 [GRCh38]
Chr8:133153418 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.101C>T (p.Ala34Val) |
single nucleotide variant |
Benign neonatal seizures [RCV002007721] |
Chr8:132480432 [GRCh38]
Chr8:133492679 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2554C>A (p.Pro852Thr) |
single nucleotide variant |
Developmental disorder [RCV001843729] |
Chr8:132129327 [GRCh38]
Chr8:133141574 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1774A>C (p.Thr592Pro) |
single nucleotide variant |
Benign neonatal seizures [RCV001894521] |
Chr8:132134315 [GRCh38]
Chr8:133146562 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.263T>C (p.Leu88Pro) |
single nucleotide variant |
Benign neonatal seizures [RCV002023579] |
Chr8:132480270 [GRCh38]
Chr8:133492517 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2312C>T (p.Ser771Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV001893886]|not provided [RCV003438890] |
Chr8:132129569 [GRCh38]
Chr8:133141816 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.2405G>A (p.Arg802Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV002043502] |
Chr8:132129476 [GRCh38]
Chr8:133141723 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.477+5G>T |
single nucleotide variant |
Benign neonatal seizures [RCV001926957] |
Chr8:132186086 [GRCh38]
Chr8:133198333 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8q24.22(chr8:132812614-133245950) |
copy number gain |
not specified [RCV002053798] |
Chr8:132812614..133245950 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.80A>G (p.Asn27Ser) |
single nucleotide variant |
not provided [RCV001840916] |
Chr8:132480453 [GRCh38]
Chr8:133492700 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.530C>A (p.Ala177Asp) |
single nucleotide variant |
Benign neonatal seizures [RCV002043707]|Inborn genetic diseases [RCV003269111] |
Chr8:132184315 [GRCh38]
Chr8:133196562 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2491C>G (p.Arg831Gly) |
single nucleotide variant |
Benign neonatal seizures [RCV001908518] |
Chr8:132129390 [GRCh38]
Chr8:133141637 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.107_109dup (p.Ala36dup) |
duplication |
Benign neonatal seizures [RCV001947504]|not provided [RCV004774486] |
Chr8:132480423..132480424 [GRCh38]
Chr8:133492670..133492671 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1498A>G (p.Arg500Gly) |
single nucleotide variant |
Benign neonatal seizures [RCV002021154] |
Chr8:132140146 [GRCh38]
Chr8:133152393 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1792T>A (p.Ser598Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV001944053] |
Chr8:132134297 [GRCh38]
Chr8:133146544 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1277T>C (p.Leu426Pro) |
single nucleotide variant |
Benign neonatal seizures [RCV001940774] |
Chr8:132141317 [GRCh38]
Chr8:133153564 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NC_000008.10:g.(?_133141509)_(133198448_?)dup |
duplication |
Benign neonatal seizures [RCV001920513] |
Chr8:133141509..133198448 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2086C>T (p.Pro696Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV002050997] |
Chr8:132129795 [GRCh38]
Chr8:133142042 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.724C>T (p.Arg242Trp) |
single nucleotide variant |
Benign neonatal seizures [RCV001888170] |
Chr8:132180210 [GRCh38]
Chr8:133192457 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1054G>A (p.Gly352Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV001999140]|not provided [RCV004763295] |
Chr8:132172684 [GRCh38]
Chr8:133184931 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1034C>T (p.Ala345Val) |
single nucleotide variant |
Benign neonatal seizures [RCV002038339] |
Chr8:132174249 [GRCh38]
Chr8:133186496 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2313G>A (p.Ser771=) |
single nucleotide variant |
Benign neonatal seizures [RCV001952538] |
Chr8:132129568 [GRCh38]
Chr8:133141815 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.236G>A (p.Arg79Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV001961716] |
Chr8:132480297 [GRCh38]
Chr8:133492544 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1599del (p.Lys533fs) |
deletion |
Benign neonatal seizures [RCV002000206] |
Chr8:132137986 [GRCh38]
Chr8:133150233 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.52G>T (p.Gly18Trp) |
single nucleotide variant |
Benign neonatal seizures [RCV002038787] |
Chr8:132480481 [GRCh38]
Chr8:133492728 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.175G>T (p.Ala59Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV002011620] |
Chr8:132480358 [GRCh38]
Chr8:133492605 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.802G>C (p.Gly268Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV001867178] |
Chr8:132175584 [GRCh38]
Chr8:133187831 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.387-3T>C |
single nucleotide variant |
Benign neonatal seizures [RCV001931195]|Inborn genetic diseases [RCV002352596] |
Chr8:132186184 [GRCh38]
Chr8:133198431 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.48_71del (p.Asp17_Gly24del) |
deletion |
Benign neonatal seizures [RCV002031168] |
Chr8:132480462..132480485 [GRCh38]
Chr8:133492709..133492732 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1500G>C (p.Arg500Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV001899715] |
Chr8:132140144 [GRCh38]
Chr8:133152391 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2125C>T (p.Pro709Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV001930311] |
Chr8:132129756 [GRCh38]
Chr8:133142003 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1021G>A (p.Val341Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV001901115]|not provided [RCV003992576] |
Chr8:132174262 [GRCh38]
Chr8:133186509 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.148G>C (p.Val50Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV002011314] |
Chr8:132480385 [GRCh38]
Chr8:133492632 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1355C>T (p.Ala452Val) |
single nucleotide variant |
Benign neonatal seizures [RCV002049036] |
Chr8:132141239 [GRCh38]
Chr8:133153486 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.242C>G (p.Thr81Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV001991924] |
Chr8:132480291 [GRCh38]
Chr8:133492538 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1975C>T (p.Pro659Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV002034228] |
Chr8:132129906 [GRCh38]
Chr8:133142153 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.38GCG[6] (p.Gly15_Gly16dup) |
microsatellite |
Benign neonatal seizures [RCV001883811]|Inborn genetic diseases [RCV002331396] |
Chr8:132480483..132480484 [GRCh38]
Chr8:133492730..133492731 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1985G>A (p.Gly662Asp) |
single nucleotide variant |
Benign neonatal seizures [RCV002020084] |
Chr8:132129896 [GRCh38]
Chr8:133142143 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2468G>A (p.Gly823Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV001996586] |
Chr8:132129413 [GRCh38]
Chr8:133141660 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1911C>A (p.Asp637Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV001957930] |
Chr8:132129970 [GRCh38]
Chr8:133142217 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2509G>T (p.Glu837Ter) |
single nucleotide variant |
Benign neonatal seizures [RCV001884598] |
Chr8:132129372 [GRCh38]
Chr8:133141619 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.58G>T (p.Gly20Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV001906594] |
Chr8:132480475 [GRCh38]
Chr8:133492722 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.86C>T (p.Ala29Val) |
single nucleotide variant |
Benign neonatal seizures [RCV002047564] |
Chr8:132480447 [GRCh38]
Chr8:133492694 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.263T>A (p.Leu88Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV001938171] |
Chr8:132480270 [GRCh38]
Chr8:133492517 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.89G>C (p.Gly30Ala) |
single nucleotide variant |
Benign neonatal seizures [RCV002013808] |
Chr8:132480444 [GRCh38]
Chr8:133492691 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1988C>T (p.Thr663Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV001977301] |
Chr8:132129893 [GRCh38]
Chr8:133142140 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NC_000008.10:g.(?_133141509)_(134296554_?)dup |
duplication |
Benign neonatal seizures [RCV001938899] |
Chr8:133141509..134296554 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2222_2225dup (p.Glu743fs) |
duplication |
Benign neonatal seizures [RCV001979984] |
Chr8:132129655..132129656 [GRCh38]
Chr8:133141902..133141903 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2425A>G (p.Ile809Val) |
single nucleotide variant |
Benign neonatal seizures [RCV002029595] |
Chr8:132129456 [GRCh38]
Chr8:133141703 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1339C>T (p.Pro447Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV001981769] |
Chr8:132141255 [GRCh38]
Chr8:133153502 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1559G>A (p.Arg520Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV001924219] |
Chr8:132140085 [GRCh38]
Chr8:133152332 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.193G>T (p.Gly65Trp) |
single nucleotide variant |
Benign neonatal seizures [RCV001906419] |
Chr8:132480340 [GRCh38]
Chr8:133492587 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2455G>T (p.Gly819Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV002049552]|KCNQ3-related disorder [RCV003407841] |
Chr8:132129426 [GRCh38]
Chr8:133141673 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.460G>A (p.Asp154Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV001875303] |
Chr8:132186108 [GRCh38]
Chr8:133198355 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2533T>A (p.Phe845Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV001992728] |
Chr8:132129348 [GRCh38]
Chr8:133141595 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1013T>C (p.Leu338Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV001953092] |
Chr8:132174270 [GRCh38]
Chr8:133186517 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.326C>G (p.Thr109Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV002048407] |
Chr8:132480207 [GRCh38]
Chr8:133492454 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1163C>T (p.Thr388Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV001933507] |
Chr8:132170406 [GRCh38]
Chr8:133182653 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2301G>C (p.Gln767His) |
single nucleotide variant |
Benign neonatal seizures [RCV002012005] |
Chr8:132129580 [GRCh38]
Chr8:133141827 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1262+19A>G |
single nucleotide variant |
Benign neonatal seizures [RCV002167632] |
Chr8:132163449 [GRCh38]
Chr8:133175696 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.948C>A (p.Thr316=) |
single nucleotide variant |
Benign neonatal seizures [RCV002211458] |
Chr8:132174335 [GRCh38]
Chr8:133186582 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1293C>T (p.Arg431=) |
single nucleotide variant |
Benign neonatal seizures [RCV002087350] |
Chr8:132141301 [GRCh38]
Chr8:133153548 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.27G>T (p.Ala9=) |
single nucleotide variant |
Benign neonatal seizures [RCV002166286] |
Chr8:132480506 [GRCh38]
Chr8:133492753 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1568+8C>T |
single nucleotide variant |
Benign neonatal seizures [RCV002111035]|Seizures, benign familial neonatal, 2 [RCV002507949] |
Chr8:132140068 [GRCh38]
Chr8:133152315 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1700+14A>C |
single nucleotide variant |
Benign neonatal seizures [RCV002189690] |
Chr8:132137871 [GRCh38]
Chr8:133150118 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.605-15_605-12del |
microsatellite |
Benign neonatal seizures [RCV002091254] |
Chr8:132180341..132180344 [GRCh38]
Chr8:133192588..133192591 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.903G>A (p.Glu301=) |
single nucleotide variant |
Benign neonatal seizures [RCV002074866] |
Chr8:132175483 [GRCh38]
Chr8:133187730 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1799+12G>A |
single nucleotide variant |
Benign neonatal seizures [RCV002190016] |
Chr8:132134278 [GRCh38]
Chr8:133146525 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.105G>T (p.Ala35=) |
single nucleotide variant |
Benign neonatal seizures [RCV002145805] |
Chr8:132480428 [GRCh38]
Chr8:133492675 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2568A>G (p.Thr856=) |
single nucleotide variant |
Benign neonatal seizures [RCV002111631] |
Chr8:132129313 [GRCh38]
Chr8:133141560 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.978G>A (p.Thr326=) |
single nucleotide variant |
Benign neonatal seizures [RCV002148578]|Inborn genetic diseases [RCV002382433] |
Chr8:132174305 [GRCh38]
Chr8:133186552 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2398C>T (p.Leu800=) |
single nucleotide variant |
Benign neonatal seizures [RCV002191832] |
Chr8:132129483 [GRCh38]
Chr8:133141730 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2526G>A (p.Thr842=) |
single nucleotide variant |
Benign neonatal seizures [RCV002127182] |
Chr8:132129355 [GRCh38]
Chr8:133141602 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.921G>A (p.Leu307=) |
single nucleotide variant |
Benign neonatal seizures [RCV002089227] |
Chr8:132175465 [GRCh38]
Chr8:133187712 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1800-17T>C |
single nucleotide variant |
Benign neonatal seizures [RCV002105698] |
Chr8:132132281 [GRCh38]
Chr8:133144528 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1700+7C>T |
single nucleotide variant |
Benign neonatal seizures [RCV002208971] |
Chr8:132137878 [GRCh38]
Chr8:133150125 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1884+19T>C |
single nucleotide variant |
Benign neonatal seizures [RCV002071231] |
Chr8:132132161 [GRCh38]
Chr8:133144408 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1686G>A (p.Lys562=) |
single nucleotide variant |
Benign neonatal seizures [RCV002187524] |
Chr8:132137899 [GRCh38]
Chr8:133150146 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1236-8C>T |
single nucleotide variant |
Benign neonatal seizures [RCV002080060] |
Chr8:132163502 [GRCh38]
Chr8:133175749 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2382G>C (p.Ser794=) |
single nucleotide variant |
Benign neonatal seizures [RCV002132513] |
Chr8:132129499 [GRCh38]
Chr8:133141746 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1236-7T>C |
single nucleotide variant |
Benign neonatal seizures [RCV002096700] |
Chr8:132163501 [GRCh38]
Chr8:133175748 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.171C>G (p.Leu57=) |
single nucleotide variant |
Benign neonatal seizures [RCV002170661] |
Chr8:132480362 [GRCh38]
Chr8:133492609 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.295A>C (p.Arg99=) |
single nucleotide variant |
Benign neonatal seizures [RCV002149174] |
Chr8:132480238 [GRCh38]
Chr8:133492485 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1466-12T>C |
single nucleotide variant |
Benign neonatal seizures [RCV002078996] |
Chr8:132140190 [GRCh38]
Chr8:133152437 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1569-14A>G |
single nucleotide variant |
Benign neonatal seizures [RCV002096361] |
Chr8:132138030 [GRCh38]
Chr8:133150277 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1262+16T>G |
single nucleotide variant |
Benign neonatal seizures [RCV002088300] |
Chr8:132163452 [GRCh38]
Chr8:133175699 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2190T>C (p.Val730=) |
single nucleotide variant |
Benign neonatal seizures [RCV002090464] |
Chr8:132129691 [GRCh38]
Chr8:133141938 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2304C>A (p.Gly768=) |
single nucleotide variant |
Benign neonatal seizures [RCV002096647] |
Chr8:132129577 [GRCh38]
Chr8:133141824 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.386+32938C>T |
single nucleotide variant |
KCNQ3-related disorder [RCV003926329]|not provided [RCV002214480] |
Chr8:132447209 [GRCh38]
Chr8:133459456 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.386+18C>T |
single nucleotide variant |
Benign neonatal seizures [RCV002094508] |
Chr8:132480129 [GRCh38]
Chr8:133492376 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1884+11del |
deletion |
Benign neonatal seizures [RCV002105889] |
Chr8:132132169 [GRCh38]
Chr8:133144416 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.141C>G (p.Pro47=) |
single nucleotide variant |
Benign neonatal seizures [RCV002076123] |
Chr8:132480392 [GRCh38]
Chr8:133492639 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2568A>C (p.Thr856=) |
single nucleotide variant |
Benign neonatal seizures [RCV002191693] |
Chr8:132129313 [GRCh38]
Chr8:133141560 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1776C>T (p.Thr592=) |
single nucleotide variant |
Benign neonatal seizures [RCV002080266] |
Chr8:132134313 [GRCh38]
Chr8:133146560 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.121C>A (p.Arg41=) |
single nucleotide variant |
Benign neonatal seizures [RCV002167874] |
Chr8:132480412 [GRCh38]
Chr8:133492659 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1590T>C (p.Tyr530=) |
single nucleotide variant |
Benign neonatal seizures [RCV002114779]|Inborn genetic diseases [RCV002400346] |
Chr8:132137995 [GRCh38]
Chr8:133150242 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.934-10C>T |
single nucleotide variant |
Benign neonatal seizures [RCV002105172] |
Chr8:132174359 [GRCh38]
Chr8:133186606 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2334G>A (p.Gln778=) |
single nucleotide variant |
Benign neonatal seizures [RCV002148959] |
Chr8:132129547 [GRCh38]
Chr8:133141794 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.912A>G (p.Ala304=) |
single nucleotide variant |
Benign neonatal seizures [RCV002177383] |
Chr8:132175474 [GRCh38]
Chr8:133187721 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2433G>A (p.Gln811=) |
single nucleotide variant |
Benign neonatal seizures [RCV002135998] |
Chr8:132129448 [GRCh38]
Chr8:133141695 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1368T>C (p.Ser456=) |
single nucleotide variant |
Benign neonatal seizures [RCV002083656] |
Chr8:132141226 [GRCh38]
Chr8:133153473 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.977C>A (p.Thr326Lys) |
single nucleotide variant |
not specified [RCV002247918] |
Chr8:132174306 [GRCh38]
Chr8:133186553 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1965G>A (p.Thr655=) |
single nucleotide variant |
Benign neonatal seizures [RCV002138028] |
Chr8:132129916 [GRCh38]
Chr8:133142163 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2130T>C (p.Tyr710=) |
single nucleotide variant |
Benign neonatal seizures [RCV002137128] |
Chr8:132129751 [GRCh38]
Chr8:133141998 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.386+18C>G |
single nucleotide variant |
Benign neonatal seizures [RCV002123274] |
Chr8:132480129 [GRCh38]
Chr8:133492376 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.27G>A (p.Ala9=) |
single nucleotide variant |
Benign neonatal seizures [RCV002083534] |
Chr8:132480506 [GRCh38]
Chr8:133492753 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1236-20dup |
duplication |
Benign neonatal seizures [RCV002204081] |
Chr8:132163513..132163514 [GRCh38]
Chr8:133175760..133175761 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.168G>T (p.Ala56=) |
single nucleotide variant |
Benign neonatal seizures [RCV002162518] |
Chr8:132480365 [GRCh38]
Chr8:133492612 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1568+13C>T |
single nucleotide variant |
Benign neonatal seizures [RCV002083156] |
Chr8:132140063 [GRCh38]
Chr8:133152310 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.261C>T (p.Leu87=) |
single nucleotide variant |
Benign neonatal seizures [RCV002159251] |
Chr8:132480272 [GRCh38]
Chr8:133492519 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.42C>T (p.Gly14=) |
single nucleotide variant |
Benign neonatal seizures [RCV002103704]|Inborn genetic diseases [RCV002331732] |
Chr8:132480491 [GRCh38]
Chr8:133492738 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.386+8C>A |
single nucleotide variant |
Benign neonatal seizures [RCV002175774] |
Chr8:132480139 [GRCh38]
Chr8:133492386 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1141-18del |
deletion |
Benign neonatal seizures [RCV002175867] |
Chr8:132170446 [GRCh38]
Chr8:133182693 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1770A>G (p.Ala590=) |
single nucleotide variant |
Benign neonatal seizures [RCV002200212] |
Chr8:132134319 [GRCh38]
Chr8:133146566 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.605-19dup |
duplication |
Benign neonatal seizures [RCV002201993] |
Chr8:132180347..132180348 [GRCh38]
Chr8:133192594..133192595 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.264G>A (p.Leu88=) |
single nucleotide variant |
Benign neonatal seizures [RCV002082096] |
Chr8:132480269 [GRCh38]
Chr8:133492516 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.819C>T (p.Ile273=) |
single nucleotide variant |
Benign neonatal seizures [RCV002140168] |
Chr8:132175567 [GRCh38]
Chr8:133187814 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1236-8C>G |
single nucleotide variant |
Benign neonatal seizures [RCV002103214] |
Chr8:132163502 [GRCh38]
Chr8:133175749 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.604+8C>T |
single nucleotide variant |
Benign neonatal seizures [RCV002159776] |
Chr8:132184233 [GRCh38]
Chr8:133196480 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.933+8A>G |
single nucleotide variant |
Benign neonatal seizures [RCV002140723] |
Chr8:132175445 [GRCh38]
Chr8:133187692 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2340T>C (p.Arg780=) |
single nucleotide variant |
Benign neonatal seizures [RCV002156690] |
Chr8:132129541 [GRCh38]
Chr8:133141788 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.456G>T (p.Ser152=) |
single nucleotide variant |
Benign neonatal seizures [RCV002183651] |
Chr8:132186112 [GRCh38]
Chr8:133198359 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1568+14G>T |
single nucleotide variant |
Benign neonatal seizures [RCV002136100] |
Chr8:132140062 [GRCh38]
Chr8:133152309 [GRCh37]
Chr8:8q24.22 |
likely benign |
| GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) |
copy number gain |
not provided [RCV002221452] |
Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.93G>A (p.Gly31=) |
single nucleotide variant |
Benign neonatal seizures [RCV002099092] |
Chr8:132480440 [GRCh38]
Chr8:133492687 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1141-17T>A |
single nucleotide variant |
Benign neonatal seizures [RCV002157141] |
Chr8:132170445 [GRCh38]
Chr8:133182692 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.606C>T (p.Asp202=) |
single nucleotide variant |
Benign neonatal seizures [RCV002144349] |
Chr8:132180328 [GRCh38]
Chr8:133192575 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.153G>A (p.Glu51=) |
single nucleotide variant |
Benign neonatal seizures [RCV002218372] |
Chr8:132480380 [GRCh38]
Chr8:133492627 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NC_000008.10:g.(?_133141509)_(133175761_?)del |
deletion |
Benign neonatal seizures [RCV003113503] |
Chr8:133141509..133175761 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NC_000008.10:g.(?_133492374)_(133492779_?)dup |
duplication |
Benign neonatal seizures [RCV003113504] |
Chr8:133492374..133492779 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1700+13C>T |
single nucleotide variant |
Benign neonatal seizures [RCV003112146] |
Chr8:132137872 [GRCh38]
Chr8:133150119 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.883G>A (p.Glu295Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV003118632] |
Chr8:132175503 [GRCh38]
Chr8:133187750 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.883G>C (p.Glu295Gln) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV003120338] |
Chr8:132175503 [GRCh38]
Chr8:133187750 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1468G>A (p.Ala490Thr) |
single nucleotide variant |
not provided [RCV003327963] |
Chr8:132140176 [GRCh38]
Chr8:133152423 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.386+67111C>T |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV002227601] |
Chr8:132413036 [GRCh38]
Chr8:133425283 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2149C>T (p.Pro717Ser) |
single nucleotide variant |
not provided [RCV003230092] |
Chr8:132129732 [GRCh38]
Chr8:133141979 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*6046G>A |
single nucleotide variant |
not provided [RCV002276191] |
Chr8:132123216 [GRCh38]
Chr8:133135463 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.387-1035C>T |
single nucleotide variant |
not provided [RCV002292450] |
Chr8:132187216 [GRCh38]
Chr8:133199463 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.659A>G (p.Asn220Ser) |
single nucleotide variant |
not provided [RCV002279125] |
Chr8:132180275 [GRCh38]
Chr8:133192522 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.509A>G (p.Glu170Gly) |
single nucleotide variant |
Seizure [RCV002276343] |
Chr8:132184336 [GRCh38]
Chr8:133196583 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.387-19849G>A |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV002266883] |
Chr8:132206030 [GRCh38]
Chr8:133218277 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2060A>G (p.Tyr687Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV003748370]|Inborn genetic diseases [RCV003355845]|Seizures, benign familial neonatal, 2 [RCV003134421]|not provided [RCV002285923] |
Chr8:132129821 [GRCh38]
Chr8:133142068 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1040C>T (p.Pro347Leu) |
single nucleotide variant |
not provided [RCV002269399] |
Chr8:132174243 [GRCh38]
Chr8:133186490 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.737C>T (p.Thr246Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV003586323]|not provided [RCV002281322] |
Chr8:132180197 [GRCh38]
Chr8:133192444 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.233A>T (p.Gln78Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003253811] |
Chr8:132480300 [GRCh38]
Chr8:133492547 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.547C>T (p.Arg183Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002349834] |
Chr8:132184298 [GRCh38]
Chr8:133196545 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2023A>G (p.Asn675Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002419628] |
Chr8:132129858 [GRCh38]
Chr8:133142105 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1330C>G (p.Leu444Val) |
single nucleotide variant |
not provided [RCV003152194] |
Chr8:132141264 [GRCh38]
Chr8:133153511 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1884+11T>C |
single nucleotide variant |
Benign neonatal seizures [RCV002837706] |
Chr8:132132169 [GRCh38]
Chr8:133144416 [GRCh37]
Chr8:8q24.22 |
likely benign |
| GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1 |
copy number loss |
not provided [RCV002474553] |
Chr8:112234557..133668379 [GRCh37]
Chr8:8q23.3-24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.2004A>C (p.Glu668Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002417227]|not provided [RCV003149033] |
Chr8:132129877 [GRCh38]
Chr8:133142124 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.628G>A (p.Val210Met) |
single nucleotide variant |
Benign neonatal seizures [RCV002294957] |
Chr8:132180306 [GRCh38]
Chr8:133192553 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2290G>C (p.Ala764Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002446230] |
Chr8:132129591 [GRCh38]
Chr8:133141838 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1158T>C (p.Tyr386=) |
single nucleotide variant |
Inborn genetic diseases [RCV002357434] |
Chr8:132170411 [GRCh38]
Chr8:133182658 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1597A>C (p.Lys533Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV002300231] |
Chr8:132137988 [GRCh38]
Chr8:133150235 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1822C>G (p.Pro608Ala) |
single nucleotide variant |
Benign neonatal seizures [RCV003748428]|Inborn genetic diseases [RCV002410374] |
Chr8:132132242 [GRCh38]
Chr8:133144489 [GRCh37]
Chr8:8q24.22 |
likely benign|uncertain significance |
| NM_004519.4(KCNQ3):c.107C>T (p.Ala36Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002424281] |
Chr8:132480426 [GRCh38]
Chr8:133492673 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.401T>C (p.Leu134Pro) |
single nucleotide variant |
Benign neonatal seizures [RCV002298967] |
Chr8:132186167 [GRCh38]
Chr8:133198414 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.938C>G (p.Thr313Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV002299210] |
Chr8:132174345 [GRCh38]
Chr8:133186592 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.353C>G (p.Pro118Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV003748376]|Inborn genetic diseases [RCV002459471] |
Chr8:132480180 [GRCh38]
Chr8:133492427 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.77C>T (p.Ala26Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002409898] |
Chr8:132480456 [GRCh38]
Chr8:133492703 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2463T>C (p.Asn821=) |
single nucleotide variant |
Benign neonatal seizures [RCV003748441]|Inborn genetic diseases [RCV002455501] |
Chr8:132129418 [GRCh38]
Chr8:133141665 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.483A>T (p.Thr161=) |
single nucleotide variant |
Inborn genetic diseases [RCV002338114] |
Chr8:132184362 [GRCh38]
Chr8:133196609 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.811A>C (p.Thr271Pro) |
single nucleotide variant |
Benign neonatal seizures [RCV002298207] |
Chr8:132175575 [GRCh38]
Chr8:133187822 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2561C>T (p.Ser854Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV002776334] |
Chr8:132129320 [GRCh38]
Chr8:133141567 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1970A>G (p.Tyr657Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002907087] |
Chr8:132129911 [GRCh38]
Chr8:133142158 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2151T>C (p.Pro717=) |
single nucleotide variant |
Benign neonatal seizures [RCV002995420] |
Chr8:132129730 [GRCh38]
Chr8:133141977 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1965G>C (p.Thr655=) |
single nucleotide variant |
Benign neonatal seizures [RCV003014403] |
Chr8:132129916 [GRCh38]
Chr8:133142163 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.893del (p.Glu298fs) |
deletion |
Benign neonatal seizures [RCV002838210] |
Chr8:132175493 [GRCh38]
Chr8:133187740 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.2027G>C (p.Arg676Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV003095750] |
Chr8:132129854 [GRCh38]
Chr8:133142101 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2193G>A (p.Gln731=) |
single nucleotide variant |
Benign neonatal seizures [RCV002908088]|not provided [RCV003435832] |
Chr8:132129688 [GRCh38]
Chr8:133141935 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.405G>T (p.Gly135=) |
single nucleotide variant |
Benign neonatal seizures [RCV003075709] |
Chr8:132186163 [GRCh38]
Chr8:133198410 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1235G>T (p.Arg412Met) |
single nucleotide variant |
Benign neonatal seizures [RCV003013724] |
Chr8:132170334 [GRCh38]
Chr8:133182581 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2356A>G (p.Ser786Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002906840] |
Chr8:132129525 [GRCh38]
Chr8:133141772 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1429C>T (p.Arg477Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV002731304] |
Chr8:132141165 [GRCh38]
Chr8:133153412 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1044+9C>T |
single nucleotide variant |
Benign neonatal seizures [RCV002839086] |
Chr8:132174230 [GRCh38]
Chr8:133186477 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.292A>G (p.Lys98Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV003074125]|not provided [RCV004763522] |
Chr8:132480241 [GRCh38]
Chr8:133492488 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1286G>A (p.Arg429Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV003032875] |
Chr8:132141308 [GRCh38]
Chr8:133153555 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2141C>T (p.Ala714Val) |
single nucleotide variant |
Benign neonatal seizures [RCV002776524] |
Chr8:132129740 [GRCh38]
Chr8:133141987 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1292_1293delinsAA (p.Arg431Gln) |
indel |
Benign neonatal seizures [RCV002730215] |
Chr8:132141301..132141302 [GRCh38]
Chr8:133153548..133153549 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1273G>A (p.Gly425Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV003016152] |
Chr8:132141321 [GRCh38]
Chr8:133153568 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2349G>T (p.Thr783=) |
single nucleotide variant |
Benign neonatal seizures [RCV002882334] |
Chr8:132129532 [GRCh38]
Chr8:133141779 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.275C>G (p.Pro92Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV003016678] |
Chr8:132480258 [GRCh38]
Chr8:133492505 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1487T>C (p.Met496Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV002819719] |
Chr8:132140157 [GRCh38]
Chr8:133152404 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1437A>G (p.Lys479=) |
single nucleotide variant |
Benign neonatal seizures [RCV002881818] |
Chr8:132141157 [GRCh38]
Chr8:133153404 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1946G>A (p.Arg649Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV002632631]|Inborn genetic diseases [RCV002619912] |
Chr8:132129935 [GRCh38]
Chr8:133142182 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.137C>T (p.Ala46Val) |
single nucleotide variant |
Benign neonatal seizures [RCV002795503] |
Chr8:132480396 [GRCh38]
Chr8:133492643 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.177C>T (p.Ala59=) |
single nucleotide variant |
Benign neonatal seizures [RCV003020725] |
Chr8:132480356 [GRCh38]
Chr8:133492603 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.716G>A (p.Arg239Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV003079588]|not provided [RCV004725515] |
Chr8:132180218 [GRCh38]
Chr8:133192465 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1256C>A (p.Ala419Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV002825194] |
Chr8:132163474 [GRCh38]
Chr8:133175721 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.919C>T (p.Leu307=) |
single nucleotide variant |
Benign neonatal seizures [RCV002953673] |
Chr8:132175467 [GRCh38]
Chr8:133187714 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1466-10T>A |
single nucleotide variant |
Benign neonatal seizures [RCV002637425] |
Chr8:132140188 [GRCh38]
Chr8:133152435 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.605-11C>T |
single nucleotide variant |
Benign neonatal seizures [RCV002885991] |
Chr8:132180340 [GRCh38]
Chr8:133192587 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2244G>A (p.Leu748=) |
single nucleotide variant |
Benign neonatal seizures [RCV002867704] |
Chr8:132129637 [GRCh38]
Chr8:133141884 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1224T>C (p.Phe408=) |
single nucleotide variant |
Benign neonatal seizures [RCV002867226] |
Chr8:132170345 [GRCh38]
Chr8:133182592 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1764G>C (p.Gly588=) |
single nucleotide variant |
Benign neonatal seizures [RCV003079535] |
Chr8:132134325 [GRCh38]
Chr8:133146572 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2440GAT[3] (p.Asp815_Tyr816insAsp) |
microsatellite |
Inborn genetic diseases [RCV002692190] |
Chr8:132129435..132129436 [GRCh38]
Chr8:133141682..133141683 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1799+17T>A |
single nucleotide variant |
Benign neonatal seizures [RCV002637243] |
Chr8:132134273 [GRCh38]
Chr8:133146520 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1885-5T>C |
single nucleotide variant |
Benign neonatal seizures [RCV002695146] |
Chr8:132130001 [GRCh38]
Chr8:133142248 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.183C>T (p.Ala61=) |
single nucleotide variant |
Benign neonatal seizures [RCV003077920] |
Chr8:132480350 [GRCh38]
Chr8:133492597 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1619C>T (p.Pro540Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV003053516] |
Chr8:132137966 [GRCh38]
Chr8:133150213 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1884+3A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002783264] |
Chr8:132132177 [GRCh38]
Chr8:133144424 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.34G>T (p.Ala12Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV002570109] |
Chr8:132480499 [GRCh38]
Chr8:133492746 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.605-14G>A |
single nucleotide variant |
Benign neonatal seizures [RCV002620866] |
Chr8:132180343 [GRCh38]
Chr8:133192590 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.707G>C (p.Arg236Pro) |
single nucleotide variant |
Benign neonatal seizures [RCV003038703] |
Chr8:132180227 [GRCh38]
Chr8:133192474 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2217A>G (p.Thr739=) |
single nucleotide variant |
Benign neonatal seizures [RCV003038181] |
Chr8:132129664 [GRCh38]
Chr8:133141911 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1583G>A (p.Arg528His) |
single nucleotide variant |
Benign neonatal seizures [RCV002926683] |
Chr8:132138002 [GRCh38]
Chr8:133150249 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2562G>C (p.Ser854=) |
single nucleotide variant |
Benign neonatal seizures [RCV002847911] |
Chr8:132129319 [GRCh38]
Chr8:133141566 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.151G>A (p.Glu51Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV003077148] |
Chr8:132480382 [GRCh38]
Chr8:133492629 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1263-18C>T |
single nucleotide variant |
Benign neonatal seizures [RCV002866220] |
Chr8:132141349 [GRCh38]
Chr8:133153596 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.129G>A (p.Val43=) |
single nucleotide variant |
Benign neonatal seizures [RCV003036043] |
Chr8:132480404 [GRCh38]
Chr8:133492651 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.478-3C>A |
single nucleotide variant |
Benign neonatal seizures [RCV002705914] |
Chr8:132184370 [GRCh38]
Chr8:133196617 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.342C>G (p.Ala114=) |
single nucleotide variant |
Benign neonatal seizures [RCV002846640] |
Chr8:132480191 [GRCh38]
Chr8:133492438 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2465G>C (p.Gly822Ala) |
single nucleotide variant |
Benign neonatal seizures [RCV002711825] |
Chr8:132129416 [GRCh38]
Chr8:133141663 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2187G>T (p.Lys729Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV002805727]|not provided [RCV003317623] |
Chr8:132129694 [GRCh38]
Chr8:133141941 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.934-6C>A |
single nucleotide variant |
Benign neonatal seizures [RCV003042512] |
Chr8:132174355 [GRCh38]
Chr8:133186602 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2235C>A (p.Pro745=) |
single nucleotide variant |
Benign neonatal seizures [RCV002745253] |
Chr8:132129646 [GRCh38]
Chr8:133141893 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.9C>T (p.Leu3=) |
single nucleotide variant |
Benign neonatal seizures [RCV003026210] |
Chr8:132480524 [GRCh38]
Chr8:133492771 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1948T>C (p.Leu650=) |
single nucleotide variant |
Benign neonatal seizures [RCV002700920] |
Chr8:132129933 [GRCh38]
Chr8:133142180 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.237G>A (p.Arg79=) |
single nucleotide variant |
Benign neonatal seizures [RCV002829623] |
Chr8:132480296 [GRCh38]
Chr8:133492543 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1784C>T (p.Ser595Phe) |
single nucleotide variant |
Benign neonatal seizures [RCV003057424] |
Chr8:132134305 [GRCh38]
Chr8:133146552 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1446T>G (p.Ala482=) |
single nucleotide variant |
Benign neonatal seizures [RCV002871886] |
Chr8:132141148 [GRCh38]
Chr8:133153395 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1702A>G (p.Ile568Val) |
single nucleotide variant |
Benign neonatal seizures [RCV003005048] |
Chr8:132134387 [GRCh38]
Chr8:133146634 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2503G>A (p.Glu835Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV002596928] |
Chr8:132129378 [GRCh38]
Chr8:133141625 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1157A>C (p.Tyr386Ser) |
single nucleotide variant |
not provided [RCV002508483] |
Chr8:132170412 [GRCh38]
Chr8:133182659 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1791A>G (p.Gln597=) |
single nucleotide variant |
Benign neonatal seizures [RCV003084059] |
Chr8:132134298 [GRCh38]
Chr8:133146545 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.228G>A (p.Glu76=) |
single nucleotide variant |
Benign neonatal seizures [RCV002958386] |
Chr8:132480305 [GRCh38]
Chr8:133492552 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.523A>G (p.Ile175Val) |
single nucleotide variant |
Benign neonatal seizures [RCV002745228] |
Chr8:132184322 [GRCh38]
Chr8:133196569 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.593T>A (p.Leu198Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV002825774] |
Chr8:132184252 [GRCh38]
Chr8:133196499 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.226G>A (p.Glu76Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV003041364] |
Chr8:132480307 [GRCh38]
Chr8:133492554 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.162C>G (p.Thr54=) |
single nucleotide variant |
Benign neonatal seizures [RCV002851383] |
Chr8:132480371 [GRCh38]
Chr8:133492618 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1422G>A (p.Thr474=) |
single nucleotide variant |
Benign neonatal seizures [RCV002623596] |
Chr8:132141172 [GRCh38]
Chr8:133153419 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.720G>A (p.Met240Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV003057720] |
Chr8:132180214 [GRCh38]
Chr8:133192461 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.167C>A (p.Ala56Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV003056410] |
Chr8:132480366 [GRCh38]
Chr8:133492613 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1077G>T (p.Val359=) |
single nucleotide variant |
Benign neonatal seizures [RCV002632991] |
Chr8:132172661 [GRCh38]
Chr8:133184908 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1899G>A (p.Gly633=) |
single nucleotide variant |
Benign neonatal seizures [RCV003065835] |
Chr8:132129982 [GRCh38]
Chr8:133142229 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1777T>C (p.Phe593Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV002578063] |
Chr8:132134312 [GRCh38]
Chr8:133146559 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2470T>C (p.Ser824Pro) |
single nucleotide variant |
Benign neonatal seizures [RCV003091651] |
Chr8:132129411 [GRCh38]
Chr8:133141658 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1604A>G (p.Lys535Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV003091583] |
Chr8:132137981 [GRCh38]
Chr8:133150228 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.27_77del (p.Gly10_Ala26del) |
deletion |
Benign neonatal seizures [RCV002857285] |
Chr8:132480456..132480506 [GRCh38]
Chr8:133492703..133492753 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2471C>G (p.Ser824Trp) |
single nucleotide variant |
Benign neonatal seizures [RCV002746227]|Inborn genetic diseases [RCV004067808] |
Chr8:132129410 [GRCh38]
Chr8:133141657 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.778-19C>T |
single nucleotide variant |
Benign neonatal seizures [RCV002877212] |
Chr8:132175627 [GRCh38]
Chr8:133187874 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.181_182delinsAA (p.Ala61Asn) |
indel |
Benign neonatal seizures [RCV003089425] |
Chr8:132480351..132480352 [GRCh38]
Chr8:133492598..133492599 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2500G>A (p.Ala834Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV002578065] |
Chr8:132129381 [GRCh38]
Chr8:133141628 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2594G>A (p.Trp865Ter) |
single nucleotide variant |
Benign neonatal seizures [RCV002770101] |
Chr8:132129287 [GRCh38]
Chr8:133141534 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.924G>T (p.Trp308Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV002921872] |
Chr8:132175462 [GRCh38]
Chr8:133187709 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2329del (p.Arg777fs) |
deletion |
Benign neonatal seizures [RCV002857264] |
Chr8:132129552 [GRCh38]
Chr8:133141799 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.710T>A (p.Met237Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV003044809] |
Chr8:132180224 [GRCh38]
Chr8:133192471 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.1141-5C>G |
single nucleotide variant |
Benign neonatal seizures [RCV002933837] |
Chr8:132170433 [GRCh38]
Chr8:133182680 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.156A>T (p.Gln52His) |
single nucleotide variant |
Benign neonatal seizures [RCV002791753] |
Chr8:132480377 [GRCh38]
Chr8:133492624 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1727C>A (p.Pro576His) |
single nucleotide variant |
Benign neonatal seizures [RCV003044582]|not provided [RCV004763518] |
Chr8:132134362 [GRCh38]
Chr8:133146609 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1382C>T (p.Pro461Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV003011203] |
Chr8:132141212 [GRCh38]
Chr8:133153459 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2185A>G (p.Lys729Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV002581134] |
Chr8:132129696 [GRCh38]
Chr8:133141943 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2424C>G (p.Ser808Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV002806383] |
Chr8:132129457 [GRCh38]
Chr8:133141704 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2083C>T (p.Pro695Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV003062232] |
Chr8:132129798 [GRCh38]
Chr8:133142045 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1236-3T>C |
single nucleotide variant |
Benign neonatal seizures [RCV003047380] |
Chr8:132163497 [GRCh38]
Chr8:133175744 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.738C>G (p.Thr246=) |
single nucleotide variant |
Benign neonatal seizures [RCV002899397] |
Chr8:132180196 [GRCh38]
Chr8:133192443 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.597C>T (p.Cys199=) |
single nucleotide variant |
Benign neonatal seizures [RCV003087921] |
Chr8:132184248 [GRCh38]
Chr8:133196495 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1169C>T (p.Pro390Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV003065796]|not provided [RCV003328711] |
Chr8:132170400 [GRCh38]
Chr8:133182647 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.777+20T>C |
single nucleotide variant |
Benign neonatal seizures [RCV002649731] |
Chr8:132180137 [GRCh38]
Chr8:133192384 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.213C>A (p.Gly71=) |
single nucleotide variant |
Benign neonatal seizures [RCV002580324] |
Chr8:132480320 [GRCh38]
Chr8:133492567 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2514G>T (p.Thr838=) |
single nucleotide variant |
Benign neonatal seizures [RCV003086680] |
Chr8:132129367 [GRCh38]
Chr8:133141614 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.865G>A (p.Val289Met) |
single nucleotide variant |
Benign neonatal seizures [RCV002653363] |
Chr8:132175521 [GRCh38]
Chr8:133187768 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1958A>T (p.Gln653Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV002633665] |
Chr8:132129923 [GRCh38]
Chr8:133142170 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1227T>C (p.Pro409=) |
single nucleotide variant |
Benign neonatal seizures [RCV002944090] |
Chr8:132170342 [GRCh38]
Chr8:133182589 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1701-16del |
deletion |
Benign neonatal seizures [RCV003051679] |
Chr8:132134404 [GRCh38]
Chr8:133146651 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1816G>A (p.Ala606Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV002609752] |
Chr8:132132248 [GRCh38]
Chr8:133144495 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.216C>T (p.Gly72=) |
single nucleotide variant |
Benign neonatal seizures [RCV002608620]|not provided [RCV003439030] |
Chr8:132480317 [GRCh38]
Chr8:133492564 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2196_2198dup (p.Thr733_Pro734insThr) |
duplication |
Benign neonatal seizures [RCV002606203] |
Chr8:132129682..132129683 [GRCh38]
Chr8:133141929..133141930 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327615] |
Chr8:115586904..135607135 [GRCh38]
Chr8:8q23.3-24.23 |
pathogenic |
| NM_004519.4(KCNQ3):c.1016T>C (p.Ile339Thr) |
single nucleotide variant |
not provided [RCV003225337] |
Chr8:132174267 [GRCh38]
Chr8:133186514 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2572G>A (p.Asp858Asn) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV003133815] |
Chr8:132129309 [GRCh38]
Chr8:133141556 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2098C>T (p.His700Tyr) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV003133813] |
Chr8:132129783 [GRCh38]
Chr8:133142030 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1445C>T (p.Ala482Val) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV003133814] |
Chr8:132141149 [GRCh38]
Chr8:133153396 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.697C>A (p.Gln233Lys) |
single nucleotide variant |
not provided [RCV003224062] |
Chr8:132180237 [GRCh38]
Chr8:133192484 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1190C>T (p.Ala397Val) |
single nucleotide variant |
Benign neonatal seizures [RCV003586396]|not provided [RCV003225503] |
Chr8:132170379 [GRCh38]
Chr8:133182626 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.212G>A (p.Gly71Asp) |
single nucleotide variant |
not provided [RCV003329904] |
Chr8:132480321 [GRCh38]
Chr8:133492568 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1120C>G (p.Pro374Ala) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV003326111] |
Chr8:132172618 [GRCh38]
Chr8:133184865 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NM_004519.4(KCNQ3):c.2330G>T (p.Arg777Leu) |
single nucleotide variant |
not provided [RCV003328978] |
Chr8:132129551 [GRCh38]
Chr8:133141798 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.50_52delinsCC (p.Asp17fs) |
indel |
KCNQ3-related disorder [RCV003397328] |
Chr8:132480481..132480483 [GRCh38]
Chr8:133492728..133492730 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.169C>G (p.Leu57Val) |
single nucleotide variant |
not provided [RCV003329669] |
Chr8:132480364 [GRCh38]
Chr8:133492611 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1577A>G (p.Gln526Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003376446] |
Chr8:132138008 [GRCh38]
Chr8:133150255 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| GRCh37/hg19 8q24.22-24.23(chr8:131958531-136738670)x1 |
copy number loss |
not provided [RCV003483040] |
Chr8:131958531..136738670 [GRCh37]
Chr8:8q24.22-24.23 |
uncertain significance |
| NM_004519.4(KCNQ3):c.896A>T (p.Glu299Val) |
single nucleotide variant |
not provided [RCV003481896] |
Chr8:132175490 [GRCh38]
Chr8:133187737 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.604+19C>T |
single nucleotide variant |
Benign neonatal seizures [RCV003748902] |
Chr8:132184222 [GRCh38]
Chr8:133196469 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.414T>C (p.Ile138=) |
single nucleotide variant |
Benign neonatal seizures [RCV003748929] |
Chr8:132186154 [GRCh38]
Chr8:133198401 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.204G>A (p.Leu68=) |
single nucleotide variant |
Benign neonatal seizures [RCV003748940] |
Chr8:132480329 [GRCh38]
Chr8:133492576 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.962A>G (p.Asp321Gly) |
single nucleotide variant |
not provided [RCV003442702] |
Chr8:132174321 [GRCh38]
Chr8:133186568 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.*2007_*2009dup |
duplication |
not provided [RCV003440648] |
Chr8:132127252..132127253 [GRCh38]
Chr8:133139499..133139500 [GRCh37]
Chr8:8q24.22 |
benign |
| NM_004519.4(KCNQ3):c.1921G>A (p.Asp641Asn) |
single nucleotide variant |
not provided [RCV003440649] |
Chr8:132129960 [GRCh38]
Chr8:133142207 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1252G>A (p.Ala418Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV003586420]|not provided [RCV003440650] |
Chr8:132163478 [GRCh38]
Chr8:133175725 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.361T>G (p.Trp121Gly) |
single nucleotide variant |
not provided [RCV003442447] |
Chr8:132480172 [GRCh38]
Chr8:133492419 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.588G>T (p.Lys196Asn) |
single nucleotide variant |
not provided [RCV003443919] |
Chr8:132184257 [GRCh38]
Chr8:133196504 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2257C>A (p.Leu753Ile) |
single nucleotide variant |
not provided [RCV003441449] |
Chr8:132129624 [GRCh38]
Chr8:133141871 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1483C>T (p.Pro495Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV003879756] |
Chr8:132140161 [GRCh38]
Chr8:133152408 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.4G>A (p.Gly2Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV003878685] |
Chr8:132480529 [GRCh38]
Chr8:133492776 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1559G>C (p.Arg520Pro) |
single nucleotide variant |
Benign neonatal seizures [RCV003877348] |
Chr8:132140085 [GRCh38]
Chr8:133152332 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1045-9del |
deletion |
Benign neonatal seizures [RCV003829573] |
Chr8:132172702 [GRCh38]
Chr8:133184949 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1215C>G (p.Val405=) |
single nucleotide variant |
Benign neonatal seizures [RCV003827515] |
Chr8:132170354 [GRCh38]
Chr8:133182601 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1880G>C (p.Arg627Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV003749531] |
Chr8:132132184 [GRCh38]
Chr8:133144431 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2133G>T (p.Gly711=) |
single nucleotide variant |
Benign neonatal seizures [RCV003749514] |
Chr8:132129748 [GRCh38]
Chr8:133141995 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1984G>A (p.Gly662Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV003749652] |
Chr8:132129897 [GRCh38]
Chr8:133142144 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.971C>T (p.Pro324Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV003749882] |
Chr8:132174312 [GRCh38]
Chr8:133186559 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2368C>G (p.Leu790Val) |
single nucleotide variant |
Benign neonatal seizures [RCV003749707] |
Chr8:132129513 [GRCh38]
Chr8:133141760 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2323T>A (p.Ser775Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV003749997] |
Chr8:132129558 [GRCh38]
Chr8:133141805 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.477+18G>A |
single nucleotide variant |
Benign neonatal seizures [RCV003749043] |
Chr8:132186073 [GRCh38]
Chr8:133198320 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2314G>T (p.Asp772Tyr) |
single nucleotide variant |
Benign neonatal seizures [RCV003749094] |
Chr8:132129567 [GRCh38]
Chr8:133141814 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1465+8dup |
duplication |
Benign neonatal seizures [RCV003749240] |
Chr8:132141120..132141121 [GRCh38]
Chr8:133153367..133153368 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.70G>T (p.Gly24Trp) |
single nucleotide variant |
Benign neonatal seizures [RCV003749253] |
Chr8:132480463 [GRCh38]
Chr8:133492710 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1980C>G (p.Thr660=) |
single nucleotide variant |
Benign neonatal seizures [RCV003749210] |
Chr8:132129901 [GRCh38]
Chr8:133142148 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.167C>T (p.Ala56Val) |
single nucleotide variant |
Benign neonatal seizures [RCV003749386] |
Chr8:132480366 [GRCh38]
Chr8:133492613 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.386+8C>T |
single nucleotide variant |
Benign neonatal seizures [RCV003749299] |
Chr8:132480139 [GRCh38]
Chr8:133492386 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1018G>A (p.Gly340Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV003749603] |
Chr8:132174265 [GRCh38]
Chr8:133186512 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2348C>T (p.Thr783Met) |
single nucleotide variant |
Benign neonatal seizures [RCV003749790] |
Chr8:132129533 [GRCh38]
Chr8:133141780 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2055C>T (p.Cys685=) |
single nucleotide variant |
Benign neonatal seizures [RCV003749795] |
Chr8:132129826 [GRCh38]
Chr8:133142073 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2443G>A (p.Asp815Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV003750154] |
Chr8:132129438 [GRCh38]
Chr8:133141685 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1569-18C>T |
single nucleotide variant |
Benign neonatal seizures [RCV003586482] |
Chr8:132138034 [GRCh38]
Chr8:133150281 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1522A>G (p.Ile508Val) |
single nucleotide variant |
Benign neonatal seizures [RCV003748974] |
Chr8:132140122 [GRCh38]
Chr8:133152369 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.386+16C>G |
single nucleotide variant |
Benign neonatal seizures [RCV003749230] |
Chr8:132480131 [GRCh38]
Chr8:133492378 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1273G>T (p.Gly425Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV003749472] |
Chr8:132141321 [GRCh38]
Chr8:133153568 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.848A>G (p.Glu283Gly) |
single nucleotide variant |
Benign neonatal seizures [RCV003749533] |
Chr8:132175538 [GRCh38]
Chr8:133187785 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.44G>A (p.Gly15Asp) |
single nucleotide variant |
Benign neonatal seizures [RCV003749876] |
Chr8:132480489 [GRCh38]
Chr8:133492736 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1262+1G>T |
single nucleotide variant |
Benign neonatal seizures [RCV003750126] |
Chr8:132163467 [GRCh38]
Chr8:133175714 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NM_004519.4(KCNQ3):c.1071C>T (p.Leu357=) |
single nucleotide variant |
Benign neonatal seizures [RCV003854836] |
Chr8:132172667 [GRCh38]
Chr8:133184914 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.248A>C (p.Gln83Pro) |
single nucleotide variant |
Benign neonatal seizures [RCV003586443] |
Chr8:132480285 [GRCh38]
Chr8:133492532 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.387-16C>A |
single nucleotide variant |
Benign neonatal seizures [RCV003840181] |
Chr8:132186197 [GRCh38]
Chr8:133198444 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.304G>T (p.Ala102Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV003849497] |
Chr8:132480229 [GRCh38]
Chr8:133492476 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.605-5C>T |
single nucleotide variant |
Benign neonatal seizures [RCV003749421] |
Chr8:132180334 [GRCh38]
Chr8:133192581 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2465G>T (p.Gly822Val) |
single nucleotide variant |
Benign neonatal seizures [RCV003749776] |
Chr8:132129416 [GRCh38]
Chr8:133141663 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.109G>A (p.Gly37Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV003750277] |
Chr8:132480424 [GRCh38]
Chr8:133492671 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2589A>T (p.Ser863=) |
single nucleotide variant |
Benign neonatal seizures [RCV003749115] |
Chr8:132129292 [GRCh38]
Chr8:133141539 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.148G>A (p.Val50Met) |
single nucleotide variant |
Benign neonatal seizures [RCV003839665] |
Chr8:132480385 [GRCh38]
Chr8:133492632 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.91G>C (p.Gly31Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV003749823] |
Chr8:132480442 [GRCh38]
Chr8:133492689 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.64G>A (p.Gly22Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV003749941] |
Chr8:132480469 [GRCh38]
Chr8:133492716 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2586T>C (p.Asp862=) |
single nucleotide variant |
Benign neonatal seizures [RCV003750250] |
Chr8:132129295 [GRCh38]
Chr8:133141542 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1811A>G (p.Tyr604Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV003815841] |
Chr8:132132253 [GRCh38]
Chr8:133144500 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.478-12T>C |
single nucleotide variant |
Benign neonatal seizures [RCV003749006] |
Chr8:132184379 [GRCh38]
Chr8:133196626 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2070A>G (p.Thr690=) |
single nucleotide variant |
Benign neonatal seizures [RCV003749360] |
Chr8:132129811 [GRCh38]
Chr8:133142058 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2471C>T (p.Ser824Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV003749041] |
Chr8:132129410 [GRCh38]
Chr8:133141657 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2540C>A (p.Pro847His) |
single nucleotide variant |
Benign neonatal seizures [RCV003749432] |
Chr8:132129341 [GRCh38]
Chr8:133141588 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.558C>T (p.Gly186=) |
single nucleotide variant |
Benign neonatal seizures [RCV003749753] |
Chr8:132184287 [GRCh38]
Chr8:133196534 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.815T>C (p.Leu272Pro) |
single nucleotide variant |
Benign neonatal seizures [RCV003749833] |
Chr8:132175571 [GRCh38]
Chr8:133187818 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.598A>G (p.Met200Val) |
single nucleotide variant |
Benign neonatal seizures [RCV003812141] |
Chr8:132184247 [GRCh38]
Chr8:133196494 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.211G>A (p.Gly71Ser) |
single nucleotide variant |
Benign neonatal seizures [RCV003749873] |
Chr8:132480322 [GRCh38]
Chr8:133492569 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1981A>G (p.Lys661Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV003749910] |
Chr8:132129900 [GRCh38]
Chr8:133142147 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2525C>T (p.Thr842Met) |
single nucleotide variant |
Benign neonatal seizures [RCV003832674] |
Chr8:132129356 [GRCh38]
Chr8:133141603 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2323T>G (p.Ser775Ala) |
single nucleotide variant |
Benign neonatal seizures [RCV003586884] |
Chr8:132129558 [GRCh38]
Chr8:133141805 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.505G>A (p.Ala169Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV003586989] |
Chr8:132184340 [GRCh38]
Chr8:133196587 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.386+11G>C |
single nucleotide variant |
Benign neonatal seizures [RCV003587531] |
Chr8:132480136 [GRCh38]
Chr8:133492383 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1601T>G (p.Phe534Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV003587707] |
Chr8:132137984 [GRCh38]
Chr8:133150231 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2427C>A (p.Ile809=) |
single nucleotide variant |
Benign neonatal seizures [RCV003586664] |
Chr8:132129454 [GRCh38]
Chr8:133141701 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.453C>G (p.Val151=) |
single nucleotide variant |
Benign neonatal seizures [RCV003586909] |
Chr8:132186115 [GRCh38]
Chr8:133198362 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.934-8C>G |
single nucleotide variant |
Benign neonatal seizures [RCV003587121] |
Chr8:132174357 [GRCh38]
Chr8:133186604 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2373C>T (p.Ser791=) |
single nucleotide variant |
Benign neonatal seizures [RCV003862661] |
Chr8:132129508 [GRCh38]
Chr8:133141755 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.69C>T (p.Gly23=) |
single nucleotide variant |
Benign neonatal seizures [RCV003587037] |
Chr8:132480464 [GRCh38]
Chr8:133492711 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2076C>T (p.Pro692=) |
single nucleotide variant |
Benign neonatal seizures [RCV003587485] |
Chr8:132129805 [GRCh38]
Chr8:133142052 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1885-7T>C |
single nucleotide variant |
Benign neonatal seizures [RCV003587545] |
Chr8:132130003 [GRCh38]
Chr8:133142250 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1568+4A>G |
single nucleotide variant |
Benign neonatal seizures [RCV003587296] |
Chr8:132140072 [GRCh38]
Chr8:133152319 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.27_35dup (p.Gly13_Gly14insAlaAlaGly) |
duplication |
Benign neonatal seizures [RCV003859189] |
Chr8:132480497..132480498 [GRCh38]
Chr8:133492744..133492745 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1701-18T>C |
single nucleotide variant |
Benign neonatal seizures [RCV003587632] |
Chr8:132134406 [GRCh38]
Chr8:133146653 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2235C>T (p.Pro745=) |
single nucleotide variant |
Benign neonatal seizures [RCV003859275] |
Chr8:132129646 [GRCh38]
Chr8:133141893 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.279G>A (p.Leu93=) |
single nucleotide variant |
Benign neonatal seizures [RCV003587162] |
Chr8:132480254 [GRCh38]
Chr8:133492501 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2342G>A (p.Ser781Asn) |
single nucleotide variant |
Benign neonatal seizures [RCV003586529] |
Chr8:132129539 [GRCh38]
Chr8:133141786 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1929C>T (p.His643=) |
single nucleotide variant |
Benign neonatal seizures [RCV003587076] |
Chr8:132129952 [GRCh38]
Chr8:133142199 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1044+12T>C |
single nucleotide variant |
Benign neonatal seizures [RCV003586803] |
Chr8:132174227 [GRCh38]
Chr8:133186474 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1757A>C (p.Gln586Pro) |
single nucleotide variant |
Benign neonatal seizures [RCV003586804] |
Chr8:132134332 [GRCh38]
Chr8:133146579 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2111T>C (p.Ile704Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV003586866] |
Chr8:132129770 [GRCh38]
Chr8:133142017 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1307G>A (p.Arg436His) |
single nucleotide variant |
Benign neonatal seizures [RCV003586582] |
Chr8:132141287 [GRCh38]
Chr8:133153534 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1141-8C>G |
single nucleotide variant |
Benign neonatal seizures [RCV003587978] |
Chr8:132170436 [GRCh38]
Chr8:133182683 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1860G>A (p.Gly620=) |
single nucleotide variant |
Benign neonatal seizures [RCV003868003] |
Chr8:132132204 [GRCh38]
Chr8:133144451 [GRCh37]
Chr8:8q24.22 |
likely benign |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not specified [RCV003986742] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.356G>A (p.Arg119Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV003868335] |
Chr8:132480177 [GRCh38]
Chr8:133492424 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.767C>T (p.Ala256Val) |
single nucleotide variant |
Benign neonatal seizures [RCV003747741] |
Chr8:132180167 [GRCh38]
Chr8:133192414 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1799+15C>T |
single nucleotide variant |
Benign neonatal seizures [RCV003872087] |
Chr8:132134275 [GRCh38]
Chr8:133146522 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1568+18C>A |
single nucleotide variant |
Benign neonatal seizures [RCV003748012] |
Chr8:132140058 [GRCh38]
Chr8:133152305 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.605-16C>T |
single nucleotide variant |
Benign neonatal seizures [RCV003748892] |
Chr8:132180345 [GRCh38]
Chr8:133192592 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1700G>A (p.Arg567Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV003587541] |
Chr8:132137885 [GRCh38]
Chr8:133150132 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1005C>T (p.Thr335=) |
single nucleotide variant |
Benign neonatal seizures [RCV003748527] |
Chr8:132174278 [GRCh38]
Chr8:133186525 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2444A>G (p.Asp815Gly) |
single nucleotide variant |
Benign neonatal seizures [RCV003748572] |
Chr8:132129437 [GRCh38]
Chr8:133141684 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.575A>C (p.Lys192Thr) |
single nucleotide variant |
Benign neonatal seizures [RCV003748579] |
Chr8:132184270 [GRCh38]
Chr8:133196517 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1496_1501dup (p.Arg500_Gly501insAspArg) |
duplication |
Benign neonatal seizures [RCV003587469] |
Chr8:132140142..132140143 [GRCh38]
Chr8:133152389..133152390 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.399C>A (p.Val133=) |
single nucleotide variant |
Benign neonatal seizures [RCV003587593] |
Chr8:132186169 [GRCh38]
Chr8:133198416 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1045-17C>T |
single nucleotide variant |
Benign neonatal seizures [RCV003748605] |
Chr8:132172710 [GRCh38]
Chr8:133184957 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.289G>A (p.Val97Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV003748617]|not provided [RCV004775453] |
Chr8:132480244 [GRCh38]
Chr8:133492491 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.888G>A (p.Met296Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV003748641] |
Chr8:132175498 [GRCh38]
Chr8:133187745 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.520A>C (p.Arg174=) |
single nucleotide variant |
Benign neonatal seizures [RCV003748646] |
Chr8:132184325 [GRCh38]
Chr8:133196572 [GRCh37]
Chr8:8q24.22 |
likely benign |
| GRCh37/hg19 8q24.22(chr8:132812615-133245950)x3 |
copy number gain |
not specified [RCV003986780] |
Chr8:132812615..133245950 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.777+1G>T |
single nucleotide variant |
Benign neonatal seizures [RCV003587818] |
Chr8:132180156 [GRCh38]
Chr8:133192403 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NM_004519.4(KCNQ3):c.2134T>A (p.Phe712Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV003865296] |
Chr8:132129747 [GRCh38]
Chr8:133141994 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2104G>C (p.Val702Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV003586644] |
Chr8:132129777 [GRCh38]
Chr8:133142024 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1635T>C (p.Asp545=) |
single nucleotide variant |
Benign neonatal seizures [RCV003586650] |
Chr8:132137950 [GRCh38]
Chr8:133150197 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.627T>C (p.Ser209=) |
single nucleotide variant |
Benign neonatal seizures [RCV003587944] |
Chr8:132180307 [GRCh38]
Chr8:133192554 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1646A>C (p.Gln549Pro) |
single nucleotide variant |
Benign neonatal seizures [RCV003586686] |
Chr8:132137939 [GRCh38]
Chr8:133150186 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.778-16C>T |
single nucleotide variant |
Benign neonatal seizures [RCV003586710] |
Chr8:132175624 [GRCh38]
Chr8:133187871 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2415T>C (p.Ser805=) |
single nucleotide variant |
Benign neonatal seizures [RCV003868453] |
Chr8:132129466 [GRCh38]
Chr8:133141713 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2537C>G (p.Thr846Arg) |
single nucleotide variant |
Benign neonatal seizures [RCV003869517] |
Chr8:132129344 [GRCh38]
Chr8:133141591 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1938C>G (p.His646Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV003869679] |
Chr8:132129943 [GRCh38]
Chr8:133142190 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.115G>T (p.Glu39Ter) |
single nucleotide variant |
Benign neonatal seizures [RCV003586869] |
Chr8:132480418 [GRCh38]
Chr8:133492665 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.186C>A (p.Asp62Glu) |
single nucleotide variant |
Benign neonatal seizures [RCV003587144] |
Chr8:132480347 [GRCh38]
Chr8:133492594 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.777+16A>G |
single nucleotide variant |
Benign neonatal seizures [RCV003587179] |
Chr8:132180141 [GRCh38]
Chr8:133192388 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.120G>A (p.Glu40=) |
single nucleotide variant |
Benign neonatal seizures [RCV003587072] |
Chr8:132480413 [GRCh38]
Chr8:133492660 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.601T>C (p.Leu201=) |
single nucleotide variant |
Benign neonatal seizures [RCV003747754] |
Chr8:132184244 [GRCh38]
Chr8:133196491 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.799A>C (p.Ile267Leu) |
single nucleotide variant |
Benign neonatal seizures [RCV003747756] |
Chr8:132175587 [GRCh38]
Chr8:133187834 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1581C>T (p.Phe527=) |
single nucleotide variant |
Benign neonatal seizures [RCV003747784] |
Chr8:132138004 [GRCh38]
Chr8:133150251 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.2065G>A (p.Glu689Lys) |
single nucleotide variant |
Benign neonatal seizures [RCV003747850] |
Chr8:132129816 [GRCh38]
Chr8:133142063 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.744G>A (p.Lys248=) |
single nucleotide variant |
Benign neonatal seizures [RCV003748692] |
Chr8:132180190 [GRCh38]
Chr8:133192437 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.316C>T (p.Arg106Cys) |
single nucleotide variant |
Benign neonatal seizures [RCV003748691]|KCNQ3-related disorder [RCV003901302] |
Chr8:132480217 [GRCh38]
Chr8:133492464 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1700+16C>T |
single nucleotide variant |
Benign neonatal seizures [RCV003747882] |
Chr8:132137869 [GRCh38]
Chr8:133150116 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.296G>T (p.Arg99Ile) |
single nucleotide variant |
Benign neonatal seizures [RCV003748864] |
Chr8:132480237 [GRCh38]
Chr8:133492484 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.715C>T (p.Arg239Trp) |
single nucleotide variant |
Benign neonatal seizures [RCV003747990] |
Chr8:132180219 [GRCh38]
Chr8:133192466 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.121C>G (p.Arg41Gly) |
single nucleotide variant |
Benign neonatal seizures [RCV003747994] |
Chr8:132480412 [GRCh38]
Chr8:133492659 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1800-18G>A |
single nucleotide variant |
Benign neonatal seizures [RCV003748114] |
Chr8:132132282 [GRCh38]
Chr8:133144529 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.355C>T (p.Arg119Trp) |
single nucleotide variant |
Benign neonatal seizures [RCV003748118] |
Chr8:132480178 [GRCh38]
Chr8:133492425 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2608A>C (p.Lys870Gln) |
single nucleotide variant |
Benign neonatal seizures [RCV003819114] |
Chr8:132129273 [GRCh38]
Chr8:133141520 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1958A>C (p.Gln653Pro) |
single nucleotide variant |
Benign neonatal seizures [RCV003587849] |
Chr8:132129923 [GRCh38]
Chr8:133142170 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.387-7C>T |
single nucleotide variant |
Benign neonatal seizures [RCV003586574] |
Chr8:132186188 [GRCh38]
Chr8:133198435 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.313C>T (p.Arg105Trp) |
single nucleotide variant |
Benign neonatal seizures [RCV003820816] |
Chr8:132480220 [GRCh38]
Chr8:133492467 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2485del (p.Glu829fs) |
deletion |
Benign neonatal seizures [RCV003586743] |
Chr8:132129396 [GRCh38]
Chr8:133141643 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.299_302del (p.Asn100fs) |
deletion |
Benign neonatal seizures [RCV003586711] |
Chr8:132480231..132480234 [GRCh38]
Chr8:133492478..133492481 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.2085A>C (p.Pro695=) |
single nucleotide variant |
Benign neonatal seizures [RCV003588044] |
Chr8:132129796 [GRCh38]
Chr8:133142043 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1665C>A (p.Leu555=) |
single nucleotide variant |
Benign neonatal seizures [RCV003819918] |
Chr8:132137920 [GRCh38]
Chr8:133150167 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1576C>T (p.Gln526Ter) |
single nucleotide variant |
Benign neonatal seizures [RCV003587134] |
Chr8:132138009 [GRCh38]
Chr8:133150256 [GRCh37]
Chr8:8q24.22 |
pathogenic |
| NM_004519.4(KCNQ3):c.2413A>G (p.Ser805Gly) |
single nucleotide variant |
Benign neonatal seizures [RCV003587097] |
Chr8:132129468 [GRCh38]
Chr8:133141715 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1701-17_1701-16del |
microsatellite |
Benign neonatal seizures [RCV003587252] |
Chr8:132134404..132134405 [GRCh38]
Chr8:133146651..133146652 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1044+18A>G |
single nucleotide variant |
Benign neonatal seizures [RCV003587261] |
Chr8:132174221 [GRCh38]
Chr8:133186468 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.52G>A (p.Gly18Arg) |
single nucleotide variant |
KCNQ3-related disorder [RCV003904493] |
Chr8:132480481 [GRCh38]
Chr8:133492728 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.-145G>T |
single nucleotide variant |
KCNQ3-related disorder [RCV003896273] |
Chr8:132480677 [GRCh38]
Chr8:133492924 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.-148_-147insTGG |
insertion |
KCNQ3-related disorder [RCV003899032] |
Chr8:132480679..132480680 [GRCh38]
Chr8:133492926..133492927 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.1515C>T (p.Asp505=) |
single nucleotide variant |
not provided [RCV003887673] |
Chr8:132140129 [GRCh38]
Chr8:133152376 [GRCh37]
Chr8:8q24.22 |
likely benign |
| GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 |
copy number gain |
not provided [RCV003885521] |
Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3 |
pathogenic |
| NM_004519.4(KCNQ3):c.2047A>G (p.Ile683Val) |
single nucleotide variant |
KCNQ3-related disorder [RCV003904540] |
Chr8:132129834 [GRCh38]
Chr8:133142081 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.60C>T (p.Gly20=) |
single nucleotide variant |
not provided [RCV003887368] |
Chr8:132480473 [GRCh38]
Chr8:133492720 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.386+32944G>A |
single nucleotide variant |
not provided [RCV003885593] |
Chr8:132447203 [GRCh38]
Chr8:133459450 [GRCh37]
Chr8:8q24.22 |
likely benign |
| NM_004519.4(KCNQ3):c.328_329del (p.Leu110fs) |
deletion |
not provided [RCV004555054] |
Chr8:132480204..132480205 [GRCh38]
Chr8:133492451..133492452 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.36_42dup (p.Gly15fs) |
duplication |
not provided [RCV004590956] |
Chr8:132480490..132480491 [GRCh38]
Chr8:133492737..133492738 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1721C>T (p.Pro574Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004406353] |
Chr8:132134368 [GRCh38]
Chr8:133146615 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.196A>T (p.Thr66Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004406354] |
Chr8:132480337 [GRCh38]
Chr8:133492584 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2092A>G (p.Ser698Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004406355] |
Chr8:132129789 [GRCh38]
Chr8:133142036 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2403G>T (p.Glu801Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004406357] |
Chr8:132129478 [GRCh38]
Chr8:133141725 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.926G>C (p.Trp309Ser) |
single nucleotide variant |
Seizure [RCV004579657] |
Chr8:132175460 [GRCh38]
Chr8:133187707 [GRCh37]
Chr8:8q24.22 |
likely pathogenic |
| NC_000008.10:g.(?_133141509)_(133198448_?)del |
deletion |
Benign neonatal seizures [RCV004583278] |
Chr8:133141509..133198448 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NC_000008.10:g.(?_133492374)_(134296554_?)dup |
duplication |
Benign neonatal seizures [RCV004583279] |
Chr8:133492374..134296554 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1765T>C (p.Ser589Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004628234] |
Chr8:132134324 [GRCh38]
Chr8:133146571 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.870T>G (p.Asp290Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004628235] |
Chr8:132175516 [GRCh38]
Chr8:133187763 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.109G>T (p.Gly37Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004628236] |
Chr8:132480424 [GRCh38]
Chr8:133492671 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1306C>G (p.Arg436Gly) |
single nucleotide variant |
not provided [RCV004724153] |
Chr8:132141288 [GRCh38]
Chr8:133153535 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1565T>A (p.Val522Asp) |
single nucleotide variant |
KCNQ3-related disorder [RCV004726485] |
Chr8:132140079 [GRCh38]
Chr8:133152326 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.844G>T (p.Val282Phe) |
single nucleotide variant |
not provided [RCV004729418] |
Chr8:132175542 [GRCh38]
Chr8:133187789 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2084C>A (p.Pro695Gln) |
single nucleotide variant |
not provided [RCV004772022] |
Chr8:132129797 [GRCh38]
Chr8:133142044 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1141-2A>C |
single nucleotide variant |
not provided [RCV004722043] |
Chr8:132170430 [GRCh38]
Chr8:133182677 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1418G>T (p.Arg473Leu) |
single nucleotide variant |
not provided [RCV004762617] |
|
uncertain significance |
| NM_004519.4(KCNQ3):c.134T>A (p.Leu45Gln) |
single nucleotide variant |
not provided [RCV004725831] |
Chr8:132480399 [GRCh38]
Chr8:133492646 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.1415T>A (p.Phe472Tyr) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV004771830] |
Chr8:132141179 [GRCh38]
Chr8:133153426 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.92G>C (p.Gly31Ala) |
single nucleotide variant |
not provided [RCV004773497] |
Chr8:132480441 [GRCh38]
Chr8:133492688 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
| NM_004519.4(KCNQ3):c.2519C>T (p.Thr840Ile) |
single nucleotide variant |
Seizures, benign familial neonatal, 2 [RCV004764328] |
|
uncertain significance |
| NM_004519.4(KCNQ3):c.2066A>C (p.Glu689Ala) |
single nucleotide variant |
not provided [RCV004762549] |
|
uncertain significance |
| NM_004519.4(KCNQ3):c.2350C>T (p.Arg784Ter) |
single nucleotide variant |
not provided [RCV004724036] |
Chr8:132129531 [GRCh38]
Chr8:133141778 [GRCh37]
Chr8:8q24.22 |
uncertain significance |
