NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) |
deletion |
Cerebellar atrophy, developmental delay, and seizures [RCV001291702]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000558859]|not provided [RCV000732588] |
Chr10:77637592..77637612 [GRCh38] Chr10:79397350..79397370 [GRCh37] Chr10:10q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.1224-4T>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001432805]|not specified [RCV000516922] |
Chr10:77090514 [GRCh38] Chr10:78850272 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.117CTC[6] (p.Ser60del) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639909]|not provided [RCV001574599]|not specified [RCV000518738] |
Chr10:77637506..77637508 [GRCh38] Chr10:79397264..79397266 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.697-4C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000553829] |
Chr10:77183536 [GRCh38] Chr10:78943294 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1301A>G (p.Asp434Gly) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000010034]|not provided [RCV001090819] |
Chr10:77090433 [GRCh38] Chr10:78850191 [GRCh37] Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.3093C>G (p.Pro1031=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639900] |
Chr10:76910020 [GRCh38] Chr10:78669778 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.498G>A (p.Ala166=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001475516]|not provided [RCV000639902] |
Chr10:77403904 [GRCh38] Chr10:79163662 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639905]|not provided [RCV001547232] |
Chr10:76891717 [GRCh38] Chr10:78651475 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.783T>C (p.Ser261=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000542279]|not provided [RCV001566504] |
Chr10:77183446 [GRCh38] Chr10:78943204 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) |
indel |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000550856]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002483417]|not provided [RCV000594761] |
Chr10:77637609..77637612 [GRCh38] Chr10:79397367..79397370 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000547386] |
Chr10:76887327 [GRCh38] Chr10:78647085 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.1764A>G (p.Thr588=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001494036] |
Chr10:77039623 [GRCh38] Chr10:78799381 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1500G>A (p.Ala500=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000554169] |
Chr10:77084660 [GRCh38] Chr10:78844418 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.603-6T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001485143] |
Chr10:77184922 [GRCh38] Chr10:78944680 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2544C>T (p.Gly848=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001401055]|not specified [RCV000517917] |
Chr10:76949307 [GRCh38] Chr10:78709065 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000529704]|not provided [RCV001591227] |
Chr10:77183458 [GRCh38] Chr10:78943216 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000298996]|Intellectual disability [RCV001252028]|not provided [RCV001706119]|not specified [RCV000173273] |
Chr10:77637609 [GRCh38] Chr10:79397367 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000340068]|not provided [RCV000424316]|not specified [RCV000173278] |
Chr10:77637488..77637490 [GRCh38] Chr10:79397246..79397248 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.2267-4446C>T |
single nucleotide variant |
Cerebellar atrophy, developmental delay, and seizures [RCV001331967] |
Chr10:76974513 [GRCh38] Chr10:78734271 [GRCh37] Chr10:78404277 [NCBI36] Chr10:10q22.3 |
uncertain significance|not provided |
NM_001014797.2(KCNMA1):c.2105-4447C>T |
single nucleotide variant |
Malignant melanoma [RCV000069043] |
Chr10:76974514 [GRCh38] Chr10:78734272 [GRCh37] Chr10:78404278 [NCBI36] Chr10:10q22.3 |
not provided |
NM_001014797.2(KCNMA1):c.1000A>G (p.Asn334Asp) |
single nucleotide variant |
Malignant melanoma [RCV000069044] |
Chr10:77110304 [GRCh38] Chr10:78870062 [GRCh37] Chr10:78540068 [NCBI36] Chr10:10q22.3 |
not provided |
NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000534770]|not provided [RCV000117330] |
Chr10:77637589..77637612 [GRCh38] Chr10:79397347..79397370 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001014797.2(KCNMA1):c.*887A>T |
single nucleotide variant |
Lung cancer [RCV000109349] |
Chr10:76876982 [GRCh38] Chr10:78636740 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001014797.2(KCNMA1):c.3513G>T (p.Arg1171=) |
single nucleotide variant |
Lung cancer [RCV000109350] |
Chr10:76887302 [GRCh38] Chr10:78647060 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001014797.2(KCNMA1):c.2548-1070A>G |
single nucleotide variant |
Lung cancer [RCV000109351] |
Chr10:76946035 [GRCh38] Chr10:78705793 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001014797.2(KCNMA1):c.1523+2311G>T |
single nucleotide variant |
Lung cancer [RCV000109352] |
Chr10:77082326 [GRCh38] Chr10:78842084 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001014797.2(KCNMA1):c.603-5946C>T |
single nucleotide variant |
Lung cancer [RCV000109353] |
Chr10:77190862 [GRCh38] Chr10:78950620 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2367C>A (p.Asp789Glu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001320709]|not provided [RCV000117325] |
Chr10:76953918 [GRCh38] Chr10:78713676 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000318760]|not provided [RCV001705838]|not specified [RCV000117322] |
Chr10:77079496 [GRCh38] Chr10:78839254 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001085712]|not provided [RCV000725137]|not specified [RCV000117323] |
Chr10:77073166 [GRCh38] Chr10:78832924 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.2015+7G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000303343]|not specified [RCV000117324] |
Chr10:77019006 [GRCh38] Chr10:78778764 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000361656]|not provided [RCV001536830]|not specified [RCV000117326] |
Chr10:76953894 [GRCh38] Chr10:78713652 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000306645]|not provided [RCV000859658]|not specified [RCV000117327] |
Chr10:76949325 [GRCh38] Chr10:78709083 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.2710-8T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000310105]|not provided [RCV001705839]|not specified [RCV000117328] |
Chr10:76944973 [GRCh38] Chr10:78704731 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000401590]|not provided [RCV000859643]|not specified [RCV000117329] |
Chr10:76891672 [GRCh38] Chr10:78651430 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) |
single nucleotide variant |
Cerebellar atrophy, developmental delay, and seizures [RCV001730540]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000398300]|Liang-Wang syndrome [RCV001730541]|not provided [RCV000712119]|not specified [RCV000117331] |
Chr10:77184832 [GRCh38] Chr10:78944590 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001085544]|not provided [RCV000712120]|not specified [RCV000117332] |
Chr10:77637553 [GRCh38] Chr10:79397311 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000799461]|Inborn genetic diseases [RCV002517663]|not provided [RCV000173274] |
Chr10:77637581 [GRCh38] Chr10:79397339 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000548229]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001535601]|Inborn genetic diseases [RCV002516582]|not provided [RCV001568924]|not specified [RCV000173275] |
Chr10:77637586..77637587 [GRCh38] Chr10:79397344..79397345 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001161352.2(KCNMA1):c.138_161del (p.Ser53_Ser60del) |
deletion |
not provided [RCV000173276] |
Chr10:77637482..77637505 [GRCh38] Chr10:79397240..79397263 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001495300]|not provided [RCV000173277] |
Chr10:77637451 [GRCh38] Chr10:79397209 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000542633]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003483559]|not provided [RCV001709510]|not specified [RCV000173279] |
Chr10:77637470..77637481 [GRCh38] Chr10:79397228..79397239 [GRCh37] Chr10:10q22.3 |
benign|likely benign|uncertain significance|not provided |
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000391353]|not provided [RCV000514678]|not specified [RCV000153390] |
Chr10:77637505..77637506 [GRCh38] Chr10:79397263..79397264 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001087883]|not provided [RCV000174728] |
Chr10:77073205 [GRCh38] Chr10:78832963 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 |
copy number gain |
See cases [RCV000135438] |
Chr10:67196567..79422057 [GRCh38] Chr10:68956325..81181813 [GRCh37] Chr10:68626331..80851819 [NCBI36] Chr10:10q21.3-22.3 |
pathogenic |
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 |
copy number gain |
See cases [RCV000138007] |
Chr10:50729367..87147204 [GRCh38] Chr10:52489127..88906961 [GRCh37] Chr10:52159133..88896941 [NCBI36] Chr10:10q11.23-23.2 |
pathogenic |
GRCh38/hg38 10q22.3(chr10:77614550-77851809)x3 |
copy number gain |
See cases [RCV000139775] |
Chr10:77614550..77851809 [GRCh38] Chr10:79374308..79611567 [GRCh37] Chr10:79044314..79281573 [NCBI36] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000346196]|not provided [RCV001706128]|not specified [RCV000176188] |
Chr10:76949286 [GRCh38] Chr10:78709044 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.2484+9G>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002516699]|not provided [RCV000176059] |
Chr10:76953792 [GRCh38] Chr10:78713550 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.3506C>T (p.Thr1169Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001344191]|not provided [RCV000176731] |
Chr10:76887471 [GRCh38] Chr10:78647229 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2914C>T (p.Pro972Ser) |
single nucleotide variant |
not provided [RCV000176391] |
Chr10:76915038 [GRCh38] Chr10:78674796 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3342+10C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002054077]|not provided [RCV000176548] |
Chr10:76891515 [GRCh38] Chr10:78651273 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000407683]|not provided [RCV001559680]|not specified [RCV000273227] |
Chr10:76949304 [GRCh38] Chr10:78709062 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000388522]|not provided [RCV001200072]|not specified [RCV000295616] |
Chr10:77090414 [GRCh38] Chr10:78850172 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.1054A>G (p.Thr352Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000200082] |
Chr10:77110250 [GRCh38] Chr10:78870008 [GRCh37] Chr10:10q22.3 |
likely pathogenic |
NM_001161352.2(KCNMA1):c.3051C>T (p.Asp1017=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639895]|not provided [RCV001582687]|not specified [RCV000194405] |
Chr10:76910062 [GRCh38] Chr10:78669820 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000300299]|not provided [RCV000317390] |
Chr10:77637554 [GRCh38] Chr10:79397312 [GRCh37] Chr10:10q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.378+503T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001196012] |
Chr10:77636762 [GRCh38] Chr10:79396520 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000504575]|not provided [RCV000255423] |
Chr10:76891709 [GRCh38] Chr10:78651467 [GRCh37] Chr10:10q22.3 |
pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 10q22.3(chr10:79361273-79576985)x3 |
copy number gain |
See cases [RCV000449041] |
Chr10:79361273..79576985 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000544542]|not provided [RCV001557737]|not specified [RCV000731423] |
Chr10:76949303 [GRCh38] Chr10:78709061 [GRCh37] Chr10:10q22.3 |
likely benign |
Single allele |
duplication |
Autism spectrum disorder [RCV000225559] |
Chr10:79036437..79286611 [NCBI36] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000967171]|not provided [RCV001577288]|not specified [RCV000239215] |
Chr10:77403989 [GRCh38] Chr10:79163747 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.378+868G>A |
single nucleotide variant |
not specified [RCV000239234] |
Chr10:77636397 [GRCh38] Chr10:79396155 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000349858]|not provided [RCV000859648]|not specified [RCV000333353] |
Chr10:76891627 [GRCh38] Chr10:78651385 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000623526]|Liang-Wang syndrome [RCV000991268]|not provided [RCV001783118] |
Chr10:77110181 [GRCh38] Chr10:78869939 [GRCh37] Chr10:10q22.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_001161352.2(KCNMA1):c.2283G>A (p.Pro761=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000266982] |
Chr10:76970051 [GRCh38] Chr10:78729809 [GRCh37] Chr10:10q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.*497A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000267826] |
Chr10:76886769 [GRCh38] Chr10:78646527 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.884+15G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000343614] |
Chr10:77120958 [GRCh38] Chr10:78880716 [GRCh37] Chr10:10q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.*488C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000322883] |
Chr10:76886778 [GRCh38] Chr10:78646536 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.*1571C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000269856] |
Chr10:76885695 [GRCh38] Chr10:78645453 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.*1243T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000286173] |
Chr10:76886023 [GRCh38] Chr10:78645781 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000287363]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002494945]|Inborn genetic diseases [RCV002520631]|not provided [RCV001557104] |
Chr10:77637461 [GRCh38] Chr10:79397219 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1288A>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000326050] |
Chr10:76885978 [GRCh38] Chr10:78645736 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.*321C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000374218]|not provided [RCV001565536] |
Chr10:76886945 [GRCh38] Chr10:78646703 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.*1765T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000329473] |
Chr10:76885501 [GRCh38] Chr10:78645259 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.-25C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000330248] |
Chr10:77637667 [GRCh38] Chr10:79397425 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*932G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000352479] |
Chr10:76886334 [GRCh38] Chr10:78646092 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000291035]|not provided [RCV001532607] |
Chr10:77112382 [GRCh38] Chr10:78872140 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000354779]|not provided [RCV001701996] |
Chr10:77079511 [GRCh38] Chr10:78839269 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.*1284T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000380626] |
Chr10:76885982 [GRCh38] Chr10:78645740 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1486G>A (p.Ala496Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000260032] |
Chr10:77084674 [GRCh38] Chr10:78844432 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000334016] |
Chr10:77086521 [GRCh38] Chr10:78846279 [GRCh37] Chr10:10q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.*2226A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000357208] |
Chr10:76885040 [GRCh38] Chr10:78644798 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2015+5G>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000358098]|not provided [RCV003441834] |
Chr10:77019008 [GRCh38] Chr10:78778766 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1739G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000384092] |
Chr10:76885527 [GRCh38] Chr10:78645285 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1957C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000277785] |
Chr10:76885309 [GRCh38] Chr10:78645067 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer) |
insertion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000277580]|not provided [RCV001582929] |
Chr10:77637627..77637628 [GRCh38] Chr10:79397385..79397386 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000294272] |
Chr10:77108495 [GRCh38] Chr10:78868253 [GRCh37] Chr10:10q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000295052]|not provided [RCV001570163] |
Chr10:76891534 [GRCh38] Chr10:78651292 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.*690C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000312656] |
Chr10:76886576 [GRCh38] Chr10:78646334 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.*834T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000407001] |
Chr10:76886432 [GRCh38] Chr10:78646190 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1022TTTG[1] |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000337613] |
Chr10:76886237..76886240 [GRCh38] Chr10:78645995..78645998 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1749+11G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000263561]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002504060]|not provided [RCV001590921] |
Chr10:77073086 [GRCh38] Chr10:78832844 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.*15G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000389340] |
Chr10:76887251 [GRCh38] Chr10:78647009 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*411GTT[4] |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000264364] |
Chr10:76886841..76886843 [GRCh38] Chr10:78646599..78646601 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1006G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000297596] |
Chr10:76886260 [GRCh38] Chr10:78646018 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*531C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000364014] |
Chr10:76886735 [GRCh38] Chr10:78646493 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1100C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000282456] |
Chr10:76886166 [GRCh38] Chr10:78645924 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.*1202C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000341151] |
Chr10:76886064 [GRCh38] Chr10:78645822 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*2325T>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000390981] |
Chr10:76884941 [GRCh38] Chr10:78644699 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*2183C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000391014] |
Chr10:76885083 [GRCh38] Chr10:78644841 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.31AGC[1] (p.Ser12del) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000391366] |
Chr10:77637607..77637609 [GRCh38] Chr10:79397365..79397367 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*394C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000319525]|not provided [RCV003417977] |
Chr10:76886872 [GRCh38] Chr10:78646630 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.*634C>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000367602] |
Chr10:76886632 [GRCh38] Chr10:78646390 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.-101_-96dup |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000271650]|not provided [RCV001618521] |
Chr10:77637737..77637738 [GRCh38] Chr10:79397495..79397496 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001245307]|not provided [RCV000381658] |
Chr10:76887342 [GRCh38] Chr10:78647100 [GRCh37] Chr10:10q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.*570T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000273046] |
Chr10:76886696 [GRCh38] Chr10:78646454 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.-104_-96dup |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000329224] |
Chr10:77637737..77637738 [GRCh38] Chr10:79397495..79397496 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*113dup |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000334277] |
Chr10:76887152..76887153 [GRCh38] Chr10:78646910..78646911 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.*2373dup |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000342057] |
Chr10:76884892..76884893 [GRCh38] Chr10:78644650..78644651 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1887G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000274373] |
Chr10:76885379 [GRCh38] Chr10:78645137 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*2015TA[7] |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000353853] |
Chr10:76885239..76885240 [GRCh38] Chr10:78644997..78644998 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000703033]|Inborn genetic diseases [RCV003362746]|not provided [RCV000392430] |
Chr10:76949176 [GRCh38] Chr10:78708934 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.-116GGC[7] |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000381531] |
Chr10:77637740..77637741 [GRCh38] Chr10:79397498..79397499 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1131+11dup |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000385160] |
Chr10:77110161..77110162 [GRCh38] Chr10:78869919..78869920 [GRCh37] Chr10:10q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001078615]|not provided [RCV000358149] |
Chr10:77183518 [GRCh38] Chr10:78943276 [GRCh37] Chr10:10q22.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.2436T>C (p.Thr812=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001448104]|not provided [RCV000365434] |
Chr10:76953849 [GRCh38] Chr10:78713607 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.2092C>T (p.Pro698Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001066786]|not provided [RCV000264881] |
Chr10:77011967 [GRCh38] Chr10:78771725 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.24C>T (p.Gly8=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001087583]|not provided [RCV000331890] |
Chr10:77637619 [GRCh38] Chr10:79397377 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.*223A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000279269] |
Chr10:76887043 [GRCh38] Chr10:78646801 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1305C>T (p.Asp435=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002059114]|not provided [RCV000404665] |
Chr10:77090429 [GRCh38] Chr10:78850187 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.2710-19dup |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002060209]|not provided [RCV000514697] |
Chr10:76944983..76944984 [GRCh38] Chr10:78704741..78704742 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.1224-197C>T |
single nucleotide variant |
not provided [RCV001566583] |
Chr10:77090707 [GRCh38] Chr10:78850465 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1929T>C (p.Arg643=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002525986]|not provided [RCV000487790] |
Chr10:77019099 [GRCh38] Chr10:78778857 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3259A>G (p.Ser1087Gly) |
single nucleotide variant |
not provided [RCV003223871] |
Chr10:76891608 [GRCh38] Chr10:78651366 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.123C>A (p.Ser41=) |
single nucleotide variant |
not provided [RCV000488088] |
Chr10:77637520 [GRCh38] Chr10:79397278 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2902G>T (p.Gly968Trp) |
single nucleotide variant |
not provided [RCV000488390] |
Chr10:76944773 [GRCh38] Chr10:78704531 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*2278G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000302403] |
Chr10:76884988 [GRCh38] Chr10:78644746 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001088769]|not provided [RCV000596921] |
Chr10:77090447 [GRCh38] Chr10:78850205 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.1131+13C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000330607] |
Chr10:77110160 [GRCh38] Chr10:78869918 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1937T>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000332899] |
Chr10:76885329 [GRCh38] Chr10:78645087 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.-57G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000368550] |
Chr10:77637699 [GRCh38] Chr10:79397457 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1935A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000368876] |
Chr10:76885331 [GRCh38] Chr10:78645089 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1025G>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000406990] |
Chr10:76886241 [GRCh38] Chr10:78645999 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000370095]|Inborn genetic diseases [RCV002520632]|KCNMA1-related condition [RCV003391061]|Seizure [RCV001281492] |
Chr10:77637612 [GRCh38] Chr10:79397370 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*539T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000309299] |
Chr10:76886727 [GRCh38] Chr10:78646485 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*2117G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000298798] |
Chr10:76885149 [GRCh38] Chr10:78644907 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.49G>C (p.Gly17Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000357305] |
Chr10:77637594 [GRCh38] Chr10:79397352 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1165C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000376998] |
Chr10:76886101 [GRCh38] Chr10:78645859 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*429CTTT[2] |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000377632] |
Chr10:76886826..76886829 [GRCh38] Chr10:78646584..78646587 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2770G>A (p.Val924Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001860221]|not provided [RCV000592315] |
Chr10:76944905 [GRCh38] Chr10:78704663 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000528395]|not provided [RCV001564214] |
Chr10:77110248 [GRCh38] Chr10:78870006 [GRCh37] Chr10:10q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.31_48dup (p.Ser11_Gly16dup) |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001038765]|not provided [RCV000597938] |
Chr10:77637594..77637595 [GRCh38] Chr10:79397352..79397353 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1218A>G (p.Gly406=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639906]|not provided [RCV000593456] |
Chr10:77108486 [GRCh38] Chr10:78868244 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.2070A>T (p.Ile690=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639899] |
Chr10:77011989 [GRCh38] Chr10:78771747 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2847C>T (p.Asn949=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639901] |
Chr10:76944828 [GRCh38] Chr10:78704586 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001085367]|not provided [RCV000591083] |
Chr10:76914987 [GRCh38] Chr10:78674745 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.3416G>A (p.Arg1139Gln) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639892] |
Chr10:76889496 [GRCh38] Chr10:78649254 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.13GGC[7] (p.Gly10dup) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639893]|not provided [RCV001815362] |
Chr10:77637612..77637613 [GRCh38] Chr10:79397370..79397371 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.1737G>A (p.Arg579=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639903]|not provided [RCV001090818] |
Chr10:77073109 [GRCh38] Chr10:78832867 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3318C>T (p.Leu1106=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639904]|not provided [RCV003420121] |
Chr10:76891549 [GRCh38] Chr10:78651307 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1224-6G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001395972]|not provided [RCV000591573] |
Chr10:77090516 [GRCh38] Chr10:78850274 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.2361-304G>A |
single nucleotide variant |
not provided [RCV001545281] |
Chr10:76954228 [GRCh38] Chr10:78713986 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1361C>A (p.Ala454Asp) |
single nucleotide variant |
Spastic ataxia [RCV000415432] |
Chr10:77086567 [GRCh38] Chr10:78846325 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.127T>A (p.Ser43Thr) |
single nucleotide variant |
not provided [RCV000416228] |
Chr10:77637516 [GRCh38] Chr10:79397274 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001078873]|not provided [RCV000733200] |
Chr10:77403988 [GRCh38] Chr10:79163746 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.3653G>A (p.Arg1218Gln) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000707196]|not specified [RCV000412806] |
Chr10:76887324 [GRCh38] Chr10:78647082 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3144C>T (p.Ser1048=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000545600]|not provided [RCV001560379] |
Chr10:76909969 [GRCh38] Chr10:78669727 [GRCh37] Chr10:10q22.3 |
likely benign |
GRCh37/hg19 10q22.2-22.3(chr10:75542067-79428995)x1 |
copy number loss |
See cases [RCV000447510] |
Chr10:75542067..79428995 [GRCh37] Chr10:10q22.2-22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.378+808C>A |
single nucleotide variant |
not provided [RCV000440099] |
Chr10:77636457 [GRCh38] Chr10:79396215 [GRCh37] Chr10:10q22.3 |
likely benign |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 |
copy number gain |
See cases [RCV000448750] |
Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.2824G>A (p.Glu942Lys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000504574] |
Chr10:76944851 [GRCh38] Chr10:78704609 [GRCh37] Chr10:10q22.3 |
pathogenic |
KCNMA1, ASN1053SER |
single nucleotide variant |
Generalized epilepsy and paroxysmal dyskinesia [RCV000504575] |
Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.2026dup (p.Tyr676fs) |
duplication |
Cerebellar atrophy, developmental delay, and seizures [RCV000504577] |
Chr10:77012032..77012033 [GRCh38] Chr10:78771790..78771791 [GRCh37] Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.825A>G (p.Arg275=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001406948]|not specified [RCV000502877] |
Chr10:77121032 [GRCh38] Chr10:78880790 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) |
copy number gain |
See cases [RCV000511389] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 |
copy number gain |
See cases [RCV000510861] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.30C>T (p.Gly10=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001246586] |
Chr10:77637613 [GRCh38] Chr10:79397371 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1413C>A (p.Leu471=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000541874] |
Chr10:77086515 [GRCh38] Chr10:78846273 [GRCh37] Chr10:10q22.3 |
likely benign |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] |
Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000536419]|KCNMA1-related condition [RCV003424108]|not provided [RCV001796105]|not specified [RCV000734743] |
Chr10:77637506..77637511 [GRCh38] Chr10:79397264..79397269 [GRCh37] Chr10:10q22.3 |
benign|likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.667G>A (p.Val223Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000541215] |
Chr10:77184852 [GRCh38] Chr10:78944610 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2350A>G (p.Lys784Glu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639887] |
Chr10:76969984 [GRCh38] Chr10:78729742 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639890]|not provided [RCV001549520] |
Chr10:76909966 [GRCh38] Chr10:78669724 [GRCh37] Chr10:10q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.2937A>G (p.Pro979=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639897]|not provided [RCV001568849] |
Chr10:76915015 [GRCh38] Chr10:78674773 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.1614G>A (p.Pro538=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001087149]|not provided [RCV000594758] |
Chr10:77073232 [GRCh38] Chr10:78832990 [GRCh37] Chr10:10q22.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.809G>A (p.Gly270Asp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001229375]|not provided [RCV000524093] |
Chr10:77121048 [GRCh38] Chr10:78880806 [GRCh37] Chr10:10q22.3 |
likely pathogenic|uncertain significance |
NM_001161352.2(KCNMA1):c.2484+7G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639898]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003224360]|not specified [RCV000729892] |
Chr10:76953794 [GRCh38] Chr10:78713552 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.2838G>A (p.Ala946=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639907]|not provided [RCV001584472] |
Chr10:76944837 [GRCh38] Chr10:78704595 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.469G>C (p.Gly157Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639888] |
Chr10:77403933 [GRCh38] Chr10:79163691 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639889]|Inborn genetic diseases [RCV002533245]|Intellectual disability [RCV001252027]|not provided [RCV001584471] |
Chr10:77637627 [GRCh38] Chr10:79397385 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.1181G>A (p.Arg394His) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639891]|not provided [RCV001861662] |
Chr10:77108523 [GRCh38] Chr10:78868281 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2769C>T (p.Cys923=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001392218] |
Chr10:76944906 [GRCh38] Chr10:78704664 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3441C>G (p.Thr1147=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000639908] |
Chr10:76889471 [GRCh38] Chr10:78649229 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3148-8T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001088785]|not provided [RCV000595843] |
Chr10:76891727 [GRCh38] Chr10:78651485 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000763671]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001065455]|Inborn genetic diseases [RCV003160047]|not provided [RCV000595977] |
Chr10:77403942 [GRCh38] Chr10:79163700 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2165C>T (p.Ser722Leu) |
single nucleotide variant |
Epilepsy, idiopathic generalized, susceptibility to, 16 [RCV001591163]|Inborn genetic diseases [RCV002527397]|not provided [RCV000512936] |
Chr10:77001508 [GRCh38] Chr10:78761266 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.37_63del (p.Gly13_Ser21del) |
deletion |
not provided [RCV000513226] |
Chr10:77637580..77637606 [GRCh38] Chr10:79397338..79397364 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.399T>A (p.Asn133Lys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002530831]|not provided [RCV000585420] |
Chr10:77404003 [GRCh38] Chr10:79163761 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3507G>A (p.Thr1169=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000689740]|not provided [RCV000513549] |
Chr10:76887470 [GRCh38] Chr10:78647228 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.92C>G (p.Ala31Gly) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000698278] |
Chr10:77637551 [GRCh38] Chr10:79397309 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1880A>G (p.Lys627Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002534278]|Liang-Wang syndrome [RCV003152723]|not provided [RCV000658257] |
Chr10:77027871 [GRCh38] Chr10:78787629 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1060G>A (p.Gly354Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000680016] |
Chr10:77110244 [GRCh38] Chr10:78870002 [GRCh37] Chr10:10q22.3 |
uncertain significance |
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 |
copy number gain |
not provided [RCV000683289] |
Chr10:69040366..93194993 [GRCh37] Chr10:10q21.3-23.32 |
pathogenic |
NM_001161352.2(KCNMA1):c.85A>G (p.Ile29Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000701689]|not provided [RCV000730842] |
Chr10:77637558 [GRCh38] Chr10:79397316 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.460G>A (p.Ala154Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000690591] |
Chr10:77403942 [GRCh38] Chr10:79163700 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.483C>T (p.Ser161=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104492]|not provided [RCV000712118] |
Chr10:77403919 [GRCh38] Chr10:79163677 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.31AGC[3] (p.Ser12dup) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000704989]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002485759]|not provided [RCV001577232] |
Chr10:77637606..77637607 [GRCh38] Chr10:79397364..79397365 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.31_48del (p.Ser11_Gly16del) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000688056] |
Chr10:77637595..77637612 [GRCh38] Chr10:79397353..79397370 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2469A>C (p.Ile823=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001395833]|not provided [RCV000712117] |
Chr10:76953816 [GRCh38] Chr10:78713574 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3557G>A (p.Arg1186Gln) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000698557]|not provided [RCV000761731] |
Chr10:76887420 [GRCh38] Chr10:78647178 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2846A>G (p.Asn949Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000710351] |
Chr10:76944829 [GRCh38] Chr10:78704587 [GRCh37] Chr10:10q22.3 |
likely pathogenic |
NM_001161352.2(KCNMA1):c.960+157C>A |
single nucleotide variant |
not provided [RCV001643949] |
Chr10:77112210 [GRCh38] Chr10:78871968 [GRCh37] Chr10:10q22.3 |
benign |
GRCh37/hg19 10q22.3(chr10:79187957-79209190)x1 |
copy number loss |
not provided [RCV000737190] |
Chr10:79187957..79209190 [GRCh37] Chr10:10q22.3 |
benign |
GRCh37/hg19 10q22.3(chr10:79280893-79342926)x1 |
copy number loss |
not provided [RCV000737191] |
Chr10:79280893..79342926 [GRCh37] Chr10:10q22.3 |
benign |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 |
copy number gain |
not provided [RCV000749465] |
Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 |
copy number gain |
not provided [RCV000749464] |
Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.1950C>T (p.Asn650=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001499790] |
Chr10:77019078 [GRCh38] Chr10:78778836 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2485-41C>T |
single nucleotide variant |
not provided [RCV001572491] |
Chr10:76949407 [GRCh38] Chr10:78709165 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1224-52G>C |
single nucleotide variant |
not provided [RCV001534337] |
Chr10:77090562 [GRCh38] Chr10:78850320 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.3016+554G>A |
single nucleotide variant |
not provided [RCV001679369] |
Chr10:76914382 [GRCh38] Chr10:78674140 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.3342+144T>C |
single nucleotide variant |
not provided [RCV001547557] |
Chr10:76891381 [GRCh38] Chr10:78651139 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3148-34A>G |
single nucleotide variant |
not provided [RCV001548142] |
Chr10:76891753 [GRCh38] Chr10:78651511 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.681C>A (p.Leu227=) |
single nucleotide variant |
not provided [RCV000976398] |
Chr10:77184838 [GRCh38] Chr10:78944596 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001079483]|not provided [RCV000761732] |
Chr10:76953887 [GRCh38] Chr10:78713645 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.1181G>T (p.Arg394Leu) |
single nucleotide variant |
not provided [RCV003238973] |
Chr10:77108523 [GRCh38] Chr10:78868281 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1524-76G>T |
single nucleotide variant |
not provided [RCV001645673] |
Chr10:77079626 [GRCh38] Chr10:78839384 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.2092+3944_2092+3955del |
deletion |
not provided [RCV001649068] |
Chr10:77008012..77008023 [GRCh38] Chr10:78767770..78767781 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.2484+1307G>A |
single nucleotide variant |
not provided [RCV001564323] |
Chr10:76952494 [GRCh38] Chr10:78712252 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.960+283del |
deletion |
not provided [RCV001577065] |
Chr10:77112084 [GRCh38] Chr10:78871842 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1223+289G>A |
single nucleotide variant |
not provided [RCV001641017] |
Chr10:77108192 [GRCh38] Chr10:78867950 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.2485-178G>A |
single nucleotide variant |
not provided [RCV001682208] |
Chr10:76949544 [GRCh38] Chr10:78709302 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1334+325C>A |
single nucleotide variant |
not provided [RCV001565455] |
Chr10:77090075 [GRCh38] Chr10:78849833 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2360+133G>A |
single nucleotide variant |
not provided [RCV001552014] |
Chr10:76969841 [GRCh38] Chr10:78729599 [GRCh37] Chr10:10q22.3 |
likely benign |
D984N |
variation |
Liang-Wang syndrome [RCV000991272] |
Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.1928+2577_1928+2582del |
deletion |
not provided [RCV001668693] |
Chr10:77025241..77025246 [GRCh38] Chr10:78784999..78785004 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.961-30C>G |
single nucleotide variant |
not provided [RCV001568429] |
Chr10:77110373 [GRCh38] Chr10:78870131 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2267-265_2267-263del |
deletion |
not provided [RCV001583785] |
Chr10:76970330..76970332 [GRCh38] Chr10:78730088..78730090 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.378+76G>T |
single nucleotide variant |
not provided [RCV001586410] |
Chr10:77637189 [GRCh38] Chr10:79396947 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000951369]|not provided [RCV001558335] |
Chr10:77090507 [GRCh38] Chr10:78850265 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.1917C>T (p.Asn639=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001437193] |
Chr10:77027834 [GRCh38] Chr10:78787592 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.144T>C (p.Ser48=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000921994]|not provided [RCV002292594] |
Chr10:77637499 [GRCh38] Chr10:79397257 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.468C>T (p.Val156=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001406874] |
Chr10:77403934 [GRCh38] Chr10:79163692 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3072A>G (p.Thr1024=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000937412] |
Chr10:76910041 [GRCh38] Chr10:78669799 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3627C>T (p.Ile1209=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000966711]|not provided [RCV001593154] |
Chr10:76887350 [GRCh38] Chr10:78647108 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.1919G>A (p.Arg640Gln) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000945495]|not provided [RCV001593135] |
Chr10:77027832 [GRCh38] Chr10:78787590 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.2577C>T (p.Asn859=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000904621] |
Chr10:76949274 [GRCh38] Chr10:78709032 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.603-5A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000902081] |
Chr10:77184921 [GRCh38] Chr10:78944679 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.354C>T (p.Cys118=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001450218] |
Chr10:77637289 [GRCh38] Chr10:79397047 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2994C>T (p.Asn998=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000926326] |
Chr10:76914958 [GRCh38] Chr10:78674716 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000900164]|not provided [RCV003413717] |
Chr10:76887389 [GRCh38] Chr10:78647147 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.1653C>T (p.Leu551=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000902449] |
Chr10:77073193 [GRCh38] Chr10:78832951 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1306G>A (p.Val436Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001069344]|Inborn genetic diseases [RCV002554575]|not provided [RCV002291716] |
Chr10:77090428 [GRCh38] Chr10:78850186 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.378+771G>C |
single nucleotide variant |
not provided [RCV001581733] |
Chr10:77636494 [GRCh38] Chr10:79396252 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3263C>T (p.Thr1088Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001035295] |
Chr10:76891604 [GRCh38] Chr10:78651362 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.632A>G (p.Lys211Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001062000] |
Chr10:77184887 [GRCh38] Chr10:78944645 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.298_309del (p.Gly100_Phe103del) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001048129] |
Chr10:77637334..77637345 [GRCh38] Chr10:79397092..79397103 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3673C>T (p.Arg1225Trp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001052247]|KCNMA1-related condition [RCV003405257]|not provided [RCV001571855] |
Chr10:76887304 [GRCh38] Chr10:78647062 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.13GGC[2] (p.Gly7_Gly10del) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001059708] |
Chr10:77637613..77637624 [GRCh38] Chr10:79397371..79397382 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3652C>T (p.Arg1218Trp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001051931] |
Chr10:76887325 [GRCh38] Chr10:78647083 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2327G>A (p.Arg776Gln) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001037774]|Inborn genetic diseases [RCV003243408] |
Chr10:76970007 [GRCh38] Chr10:78729765 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.144TTC[1] (p.Ser58_Ser60del) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001050544] |
Chr10:77637488..77637496 [GRCh38] Chr10:79397246..79397254 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.16_33del (p.Gly6_Ser11del) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001039929] |
Chr10:77637610..77637627 [GRCh38] Chr10:79397368..79397385 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.36CGG[9] (p.Gly19_Gly20dup) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000791584]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003128412]|not provided [RCV003317368] |
Chr10:77637586..77637587 [GRCh38] Chr10:79397344..79397345 [GRCh37] Chr10:10q22.3 |
uncertain significance|not provided |
NM_001161352.2(KCNMA1):c.2660A>G (p.Lys887Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000768247]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001869059]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003224444] |
Chr10:76949191 [GRCh38] Chr10:78708949 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2814G>T (p.Leu938=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001493972] |
Chr10:76944861 [GRCh38] Chr10:78704619 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1122C>T (p.Leu374=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001481411]|not provided [RCV000939675] |
Chr10:77110182 [GRCh38] Chr10:78869940 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1623T>C (p.Asn541=) |
single nucleotide variant |
not provided [RCV000933073] |
Chr10:77073223 [GRCh38] Chr10:78832981 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3017-5T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000978996] |
Chr10:76910101 [GRCh38] Chr10:78669859 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2693A>G (p.Lys898Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000886663]|not provided [RCV001560246] |
Chr10:76949158 [GRCh38] Chr10:78708916 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.884+8G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000977990] |
Chr10:77120965 [GRCh38] Chr10:78880723 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2267-7T>C |
single nucleotide variant |
not provided [RCV000922884] |
Chr10:76970074 [GRCh38] Chr10:78729832 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1239C>T (p.Cys413=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000919775]|not provided [RCV001702572] |
Chr10:77090495 [GRCh38] Chr10:78850253 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3462-10C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001520497]|not provided [RCV000942985] |
Chr10:76887525 [GRCh38] Chr10:78647283 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.1224-8C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000942016] |
Chr10:77090518 [GRCh38] Chr10:78850276 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2676G>A (p.Thr892=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001397151] |
Chr10:76949175 [GRCh38] Chr10:78708933 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2280G>A (p.Gln760=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000929978]|not provided [RCV001585871] |
Chr10:76970054 [GRCh38] Chr10:78729812 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3030T>C (p.Asn1010=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000978786] |
Chr10:76910083 [GRCh38] Chr10:78669841 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.207C>T (p.Leu69=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000916923] |
Chr10:77637436 [GRCh38] Chr10:79397194 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.993C>T (p.Phe331=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000981349] |
Chr10:77110311 [GRCh38] Chr10:78870069 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1486G>T (p.Ala496Ser) |
single nucleotide variant |
not provided [RCV003314218] |
Chr10:77084674 [GRCh38] Chr10:78844432 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.310A>G (p.Ile104Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003271250] |
Chr10:77637333 [GRCh38] Chr10:79397091 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1632A>C (p.Glu544Asp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000817338] |
Chr10:77073214 [GRCh38] Chr10:78832972 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1593+10C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000797260] |
Chr10:77079471 [GRCh38] Chr10:78839229 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.1494G>A (p.Pro498=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000821386] |
Chr10:77084666 [GRCh38] Chr10:78844424 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.187G>C (p.Glu63Gln) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000803660] |
Chr10:77637456 [GRCh38] Chr10:79397214 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.179C>G (p.Ser60Trp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000799033] |
Chr10:77637464 [GRCh38] Chr10:79397222 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3556C>T (p.Arg1186Trp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000795906]|Inborn genetic diseases [RCV002534589]|not provided [RCV001556605] |
Chr10:76887421 [GRCh38] Chr10:78647179 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3182G>A (p.Arg1061Gln) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000805950] |
Chr10:76891685 [GRCh38] Chr10:78651443 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2291T>C (p.Leu764Pro) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000792634] |
Chr10:76970043 [GRCh38] Chr10:78729801 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000812226]|not provided [RCV001580549] |
Chr10:77637587..77637613 [GRCh38] Chr10:79397345..79397371 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1622A>G (p.Asn541Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000812403] |
Chr10:77073224 [GRCh38] Chr10:78832982 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.340C>A (p.Leu114Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000813847] |
Chr10:77637303 [GRCh38] Chr10:79397061 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1749+6G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000801564]|not provided [RCV001567585] |
Chr10:77073091 [GRCh38] Chr10:78832849 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
G356R |
variation |
Liang-Wang syndrome [RCV000991270] |
Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.1372C>T (p.Arg458Ter) |
single nucleotide variant |
Cerebellar atrophy, developmental delay, and seizures [RCV000852286] |
Chr10:77086556 [GRCh38] Chr10:78846314 [GRCh37] Chr10:10q22.3 |
pathogenic |
GRCh37/hg19 10q22.3(chr10:79081072-79635897)x3 |
copy number gain |
not provided [RCV000847167] |
Chr10:79081072..79635897 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1750-3T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001352109]|not provided [RCV000994464] |
Chr10:77039640 [GRCh38] Chr10:78799398 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3581A>G (p.His1194Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000801578] |
Chr10:76887396 [GRCh38] Chr10:78647154 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.36CGG[4] (p.Gly18_Gly20del) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000793943] |
Chr10:77637587..77637595 [GRCh38] Chr10:79397345..79397353 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.626T>C (p.Phe209Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000810611] |
Chr10:77184893 [GRCh38] Chr10:78944651 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1952A>C (p.His651Pro) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000822214] |
Chr10:77019076 [GRCh38] Chr10:78778834 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1701C>T (p.Gly567=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000799689] |
Chr10:77073145 [GRCh38] Chr10:78832903 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.13GGC[5] (p.Gly10del) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000813680] |
Chr10:77637613..77637615 [GRCh38] Chr10:79397371..79397373 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1831G>A (p.Val611Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000823726] |
Chr10:77039556 [GRCh38] Chr10:78799314 [GRCh37] Chr10:10q22.3 |
uncertain significance |
GRCh37/hg19 10q22.3(chr10:79172158-79238337)x1 |
copy number loss |
not provided [RCV001006338] |
Chr10:79172158..79238337 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1052C>A (p.Ser351Tyr) |
single nucleotide variant |
Liang-Wang syndrome [RCV000991269] |
Chr10:77110252 [GRCh38] Chr10:78870010 [GRCh37] Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.1918C>T (p.Arg640Ter) |
single nucleotide variant |
not provided [RCV001008681] |
Chr10:77027833 [GRCh38] Chr10:78787591 [GRCh37] Chr10:10q22.3 |
likely pathogenic |
NM_001161352.2(KCNMA1):c.3480G>A (p.Pro1160=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000892619] |
Chr10:76887497 [GRCh38] Chr10:78647255 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.558T>C (p.Ala186=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001418434] |
Chr10:77251239 [GRCh38] Chr10:79010997 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.348C>G (p.Thr116=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000936840] |
Chr10:77637295 [GRCh38] Chr10:79397053 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3387A>G (p.Thr1129=) |
single nucleotide variant |
not provided [RCV000936900] |
Chr10:76889525 [GRCh38] Chr10:78649283 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001869382]|not provided [RCV000994463] |
Chr10:76949258 [GRCh38] Chr10:78709016 [GRCh37] Chr10:10q22.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.369del (p.Lys124fs) |
deletion |
not provided [RCV001009050] |
Chr10:77637274 [GRCh38] Chr10:79397032 [GRCh37] Chr10:10q22.3 |
likely pathogenic |
NM_001161352.2(KCNMA1):c.802T>C (p.Trp268Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001203102] |
Chr10:77183427 [GRCh38] Chr10:78943185 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.327G>T (p.Arg109=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001248724] |
Chr10:77637316 [GRCh38] Chr10:79397074 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.1987A>G (p.Ile663Val) |
single nucleotide variant |
Liang-Wang syndrome [RCV002269341]|not provided [RCV001171549] |
Chr10:77019041 [GRCh38] Chr10:78778799 [GRCh37] Chr10:10q22.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.117CTC[9] (p.Ser59_Ser60dup) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001208181] |
Chr10:77637505..77637506 [GRCh38] Chr10:79397263..79397264 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2342C>A (p.Thr781Asn) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001219981] |
Chr10:76969992 [GRCh38] Chr10:78729750 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.13GGC[8] (p.Gly9_Gly10dup) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001208774]|not provided [RCV001751382] |
Chr10:77637612..77637613 [GRCh38] Chr10:79397370..79397371 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.659C>T (p.Ala220Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001237111] |
Chr10:77184860 [GRCh38] Chr10:78944618 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3643C>T (p.Arg1215Ter) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001227232] |
Chr10:76887334 [GRCh38] Chr10:78647092 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.173C>T (p.Ser58Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001214218] |
Chr10:77637470 [GRCh38] Chr10:79397228 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3016+6G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001216059] |
Chr10:76914930 [GRCh38] Chr10:78674688 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2405T>C (p.Met802Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001217464]|Inborn genetic diseases [RCV002561923]|not provided [RCV002267084] |
Chr10:76953880 [GRCh38] Chr10:78713638 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.55_60dup (p.Gly19_Gly20dup) |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001223349] |
Chr10:77637582..77637583 [GRCh38] Chr10:79397340..79397341 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1847C>G (p.Pro616Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001221183] |
Chr10:77039540 [GRCh38] Chr10:78799298 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3584C>T (p.Ser1195Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001224322] |
Chr10:76887393 [GRCh38] Chr10:78647151 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.454G>A (p.Val152Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001221655] |
Chr10:77403948 [GRCh38] Chr10:79163706 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2714C>G (p.Thr905Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001224478] |
Chr10:76944961 [GRCh38] Chr10:78704719 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1321G>A (p.Val441Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001204275] |
Chr10:77090413 [GRCh38] Chr10:78850171 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.117CTC[10] (p.Ser58_Ser60dup) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001204443] |
Chr10:77637505..77637506 [GRCh38] Chr10:79397263..79397264 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1783G>A (p.Glu595Lys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001197767] |
Chr10:77039604 [GRCh38] Chr10:78799362 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3547G>C (p.Gly1183Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001202748] |
Chr10:76887430 [GRCh38] Chr10:78647188 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3670T>C (p.Ser1224Pro) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001323994]|Inborn genetic diseases [RCV003160126]|See cases [RCV002252293]|not provided [RCV000994459] |
Chr10:76887307 [GRCh38] Chr10:78647065 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3002T>C (p.Ile1001Thr) |
single nucleotide variant |
not provided [RCV000994460] |
Chr10:76914950 [GRCh38] Chr10:78674708 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104405]|Inborn genetic diseases [RCV002549870]|See cases [RCV003128560]|not provided [RCV000994461] |
Chr10:76914971 [GRCh38] Chr10:78674729 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1554G>T (p.Lys518Asn) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001045228]|not provided [RCV000994465] |
Chr10:77079520 [GRCh38] Chr10:78839278 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.378+834G>A |
single nucleotide variant |
not provided [RCV000994466] |
Chr10:77636431 [GRCh38] Chr10:79396189 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3654G>A (p.Arg1218=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104093] |
Chr10:76887323 [GRCh38] Chr10:78647081 [GRCh37] Chr10:10q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.2786del (p.Asn929fs) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001065360] |
Chr10:76944889 [GRCh38] Chr10:78704647 [GRCh37] Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.2681A>G (p.His894Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001229310] |
Chr10:76949170 [GRCh38] Chr10:78708928 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2488C>T (p.Arg830Ter) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001212768] |
Chr10:76949363 [GRCh38] Chr10:78709121 [GRCh37] Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.280T>G (p.Ser94Ala) |
single nucleotide variant |
Autism spectrum disorder [RCV003127239] |
Chr10:77637363 [GRCh38] Chr10:79397121 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.378+15G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003104852] |
Chr10:77637250 [GRCh38] Chr10:79397008 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1845C>G (p.Phe615Leu) |
single nucleotide variant |
Autism spectrum disorder [RCV003127290] |
Chr10:77039542 [GRCh38] Chr10:78799300 [GRCh37] Chr10:10q22.3 |
likely pathogenic |
NM_001161352.2(KCNMA1):c.2798T>C (p.Ile933Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003106373] |
Chr10:76944877 [GRCh38] Chr10:78704635 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.378+621del |
deletion |
not provided [RCV001549578] |
Chr10:77636644 [GRCh38] Chr10:79396402 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2485-337A>G |
single nucleotide variant |
not provided [RCV001569244] |
Chr10:76949703 [GRCh38] Chr10:78709461 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3664A>G (p.Arg1222Gly) |
single nucleotide variant |
not provided [RCV001569324] |
Chr10:76887313 [GRCh38] Chr10:78647071 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NC_000010.10:g.(?_78844375)_(78846371_?)del |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003107613] |
Chr10:78844375..78846371 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NC_000010.10:g.(?_78943159)_(78944694_?)dup |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003107614] |
Chr10:78943159..78944694 [GRCh37] Chr10:10q22.3 |
likely pathogenic |
NC_000010.10:g.(?_79397003)_(79603484_?)dup |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003107615] |
Chr10:79397003..79603484 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1928+2542A>G |
single nucleotide variant |
not provided [RCV001546972] |
Chr10:77025281 [GRCh38] Chr10:78785039 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.885-37G>C |
single nucleotide variant |
not provided [RCV001574630] |
Chr10:77112479 [GRCh38] Chr10:78872237 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3147+291A>T |
single nucleotide variant |
not provided [RCV001553152] |
Chr10:76909675 [GRCh38] Chr10:78669433 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.541-69A>G |
single nucleotide variant |
not provided [RCV001561242] |
Chr10:77251325 [GRCh38] Chr10:79011083 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1132-256G>T |
single nucleotide variant |
not provided [RCV001716022] |
Chr10:77108828 [GRCh38] Chr10:78868586 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.2267-266_2267-263del |
deletion |
not provided [RCV001618164] |
Chr10:76970330..76970333 [GRCh38] Chr10:78730088..78730091 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1593+78AC[22] |
microsatellite |
not provided [RCV001668892] |
Chr10:77079369..77079370 [GRCh38] Chr10:78839127..78839128 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1594-154G>A |
single nucleotide variant |
not provided [RCV001550943] |
Chr10:77073406 [GRCh38] Chr10:78833164 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3016+1119C>T |
single nucleotide variant |
not provided [RCV001593753] |
Chr10:76913817 [GRCh38] Chr10:78673575 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3017-330A>C |
single nucleotide variant |
not provided [RCV001594037] |
Chr10:76910426 [GRCh38] Chr10:78670184 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3147+149A>G |
single nucleotide variant |
not provided [RCV001652377] |
Chr10:76909817 [GRCh38] Chr10:78669575 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.3016+73G>T |
single nucleotide variant |
not provided [RCV001551534] |
Chr10:76914863 [GRCh38] Chr10:78674621 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3461+237C>T |
single nucleotide variant |
not provided [RCV001611542] |
Chr10:76889214 [GRCh38] Chr10:78648972 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1440+169G>C |
single nucleotide variant |
not provided [RCV001557832] |
Chr10:77086319 [GRCh38] Chr10:78846077 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3016+1103C>T |
single nucleotide variant |
not provided [RCV001592349] |
Chr10:76913833 [GRCh38] Chr10:78673591 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2485-191A>G |
single nucleotide variant |
not provided [RCV001614425] |
Chr10:76949557 [GRCh38] Chr10:78709315 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1928+2580AC[4] |
microsatellite |
not provided [RCV001649734] |
Chr10:77025234..77025235 [GRCh38] Chr10:78784992..78784993 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.156CTC[2] (p.Ser60del) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002568305]|not provided [RCV001549410] |
Chr10:77637479..77637481 [GRCh38] Chr10:79397237..79397239 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2282C>T (p.Pro761Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002570694]|Liang-Wang syndrome [RCV001729946]|not provided [RCV001552360] |
Chr10:76970052 [GRCh38] Chr10:78729810 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2267-267_2267-263del |
deletion |
not provided [RCV001558808] |
Chr10:76970330..76970334 [GRCh38] Chr10:78730088..78730092 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1441-114dup |
duplication |
not provided [RCV001718483] |
Chr10:77084821..77084822 [GRCh38] Chr10:78844579..78844580 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.3016+1054C>A |
single nucleotide variant |
not provided [RCV001614235] |
Chr10:76913882 [GRCh38] Chr10:78673640 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1859+64A>G |
single nucleotide variant |
not provided [RCV001559519] |
Chr10:77039464 [GRCh38] Chr10:78799222 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2015+161T>C |
single nucleotide variant |
not provided [RCV001590053] |
Chr10:77018852 [GRCh38] Chr10:78778610 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1860-236A>C |
single nucleotide variant |
not provided [RCV001583221] |
Chr10:77028127 [GRCh38] Chr10:78787885 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1353G>A (p.Glu451=) |
single nucleotide variant |
not provided [RCV000940902] |
Chr10:77086575 [GRCh38] Chr10:78846333 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2595T>C (p.Arg865=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001391776] |
Chr10:76949256 [GRCh38] Chr10:78709014 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3681A>G (p.Lys1227=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001464514] |
Chr10:76887296 [GRCh38] Chr10:78647054 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3704G>A (p.Arg1235Gln) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000952351]|not provided [RCV001664569] |
Chr10:76887273 [GRCh38] Chr10:78647031 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000908575]|not provided [RCV001569973] |
Chr10:76915006 [GRCh38] Chr10:78674764 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_001161352.2(KCNMA1):c.2748C>T (p.Asn916=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000977699] |
Chr10:76944927 [GRCh38] Chr10:78704685 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3420G>A (p.Leu1140=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001469804] |
Chr10:76889492 [GRCh38] Chr10:78649250 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2499T>C (p.Ala833=) |
single nucleotide variant |
not provided [RCV000907303] |
Chr10:76949352 [GRCh38] Chr10:78709110 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2811G>A (p.Ser937=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000937175] |
Chr10:76944864 [GRCh38] Chr10:78704622 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000945842]|not provided [RCV003413748] |
Chr10:76891600 [GRCh38] Chr10:78651358 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.1086C>T (p.Thr362=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000981222] |
Chr10:77110218 [GRCh38] Chr10:78869976 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3021C>T (p.Asn1007=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000951828] |
Chr10:76910092 [GRCh38] Chr10:78669850 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3087G>A (p.Thr1029=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001494376] |
Chr10:76910026 [GRCh38] Chr10:78669784 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3337T>C (p.Leu1113=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000910857] |
Chr10:76891530 [GRCh38] Chr10:78651288 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3147+6T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001218800]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002265961]|not provided [RCV001586063] |
Chr10:76909960 [GRCh38] Chr10:78669718 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.378+7C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001239281] |
Chr10:77637258 [GRCh38] Chr10:79397016 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.168_179del (p.Ser57_Ser60del) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001244713] |
Chr10:77637464..77637475 [GRCh38] Chr10:79397222..79397233 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*862A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107071] |
Chr10:76886404 [GRCh38] Chr10:78646162 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.37G>A (p.Gly13Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107254] |
Chr10:77637606 [GRCh38] Chr10:79397364 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1964A>T (p.Gln655Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001219837] |
Chr10:77019064 [GRCh38] Chr10:78778822 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3641A>G (p.Asn1214Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001245241]|Inborn genetic diseases [RCV003263890] |
Chr10:76887336 [GRCh38] Chr10:78647094 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1491C>G (p.Asp497Glu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001245285] |
Chr10:77084669 [GRCh38] Chr10:78844427 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3319G>A (p.Asp1107Asn) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001209004]|not provided [RCV003326552] |
Chr10:76891548 [GRCh38] Chr10:78651306 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.422C>T (p.Thr141Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001043467]|not provided [RCV001759751] |
Chr10:77403980 [GRCh38] Chr10:79163738 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1131C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104313] |
Chr10:76886135 [GRCh38] Chr10:78645893 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.215C>G (p.Pro72Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001217379] |
Chr10:77637428 [GRCh38] Chr10:79397186 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1132G>A (p.Ala378Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001210092] |
Chr10:77108572 [GRCh38] Chr10:78868330 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.27_56del (p.Gly13_Ser22del) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001228028] |
Chr10:77637587..77637616 [GRCh38] Chr10:79397345..79397374 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.363C>T (p.Cys121=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV000889253] |
Chr10:77637280 [GRCh38] Chr10:79397038 [GRCh37] Chr10:10q22.3 |
likely benign |
I663V |
variation |
Liang-Wang syndrome [RCV000991271] |
Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.18C>T (p.Gly6=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001428315] |
Chr10:77637625 [GRCh38] Chr10:79397383 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3363T>C (p.Asp1121=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001431910] |
Chr10:76889549 [GRCh38] Chr10:78649307 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1509C>T (p.Ala503=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001485218] |
Chr10:77084651 [GRCh38] Chr10:78844409 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.540+1G>A |
single nucleotide variant |
not provided [RCV001569791] |
Chr10:77403861 [GRCh38] Chr10:79163619 [GRCh37] Chr10:10q22.3 |
likely pathogenic |
NM_001161352.2(KCNMA1):c.2266+206G>A |
single nucleotide variant |
not provided [RCV001660843] |
Chr10:77001201 [GRCh38] Chr10:78760959 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1989C>T (p.Ile663=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003106236]|not provided [RCV001577460] |
Chr10:77019039 [GRCh38] Chr10:78778797 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2266+213G>A |
single nucleotide variant |
not provided [RCV001562624] |
Chr10:77001194 [GRCh38] Chr10:78760952 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.378+302G>A |
single nucleotide variant |
not provided [RCV001677544] |
Chr10:77636963 [GRCh38] Chr10:79396721 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.2714C>T (p.Thr905Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003106087]|not provided [RCV000994462] |
Chr10:76944961 [GRCh38] Chr10:78704719 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3147+277G>A |
single nucleotide variant |
not provided [RCV001558719] |
Chr10:76909689 [GRCh38] Chr10:78669447 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1440+2del |
deletion |
not provided [RCV003233359] |
Chr10:77086486 [GRCh38] Chr10:78846244 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.809-28T>G |
single nucleotide variant |
not provided [RCV001552933] |
Chr10:77121076 [GRCh38] Chr10:78880834 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.697-100A>G |
single nucleotide variant |
not provided [RCV001568594] |
Chr10:77183632 [GRCh38] Chr10:78943390 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2485-79C>T |
single nucleotide variant |
not provided [RCV001636111] |
Chr10:76949445 [GRCh38] Chr10:78709203 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.961-115G>A |
single nucleotide variant |
not provided [RCV001594215] |
Chr10:77110458 [GRCh38] Chr10:78870216 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3653G>T (p.Arg1218Leu) |
single nucleotide variant |
not provided [RCV002467294] |
Chr10:76887324 [GRCh38] Chr10:78647082 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2414A>G (p.Asn805Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001044969]|KCNMA1-related condition [RCV003393802] |
Chr10:76953871 [GRCh38] Chr10:78713629 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.36CGG[10] (p.Gly18_Gly20dup) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001043326]|not provided [RCV001171770] |
Chr10:77637586..77637587 [GRCh38] Chr10:79397344..79397345 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.2484+249C>G |
single nucleotide variant |
not provided [RCV001654045] |
Chr10:76953552 [GRCh38] Chr10:78713310 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1223+59dup |
duplication |
not provided [RCV001591990] |
Chr10:77108407..77108408 [GRCh38] Chr10:78868165..78868166 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.884+195T>C |
single nucleotide variant |
not provided [RCV001620881] |
Chr10:77120778 [GRCh38] Chr10:78880536 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1593+78AC[18] |
microsatellite |
not provided [RCV001716459] |
Chr10:77079369..77079370 [GRCh38] Chr10:78839127..78839128 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.2527G>A (p.Val843Met) |
single nucleotide variant |
not provided [RCV001723289] |
Chr10:76949324 [GRCh38] Chr10:78709082 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3514A>T (p.Ile1172Phe) |
single nucleotide variant |
not provided [RCV001593504] |
Chr10:76887463 [GRCh38] Chr10:78647221 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2484+291C>T |
single nucleotide variant |
not provided [RCV001656245] |
Chr10:76953510 [GRCh38] Chr10:78713268 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.603-123del |
deletion |
not provided [RCV001595934] |
Chr10:77185039 [GRCh38] Chr10:78944797 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.961-68G>A |
single nucleotide variant |
not provided [RCV001590063] |
Chr10:77110411 [GRCh38] Chr10:78870169 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1594-60A>G |
single nucleotide variant |
not provided [RCV001678517] |
Chr10:77073312 [GRCh38] Chr10:78833070 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.2484+2001T>C |
single nucleotide variant |
not provided [RCV001677790] |
Chr10:76951800 [GRCh38] Chr10:78711558 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.3016+1137A>C |
single nucleotide variant |
not provided [RCV001682243] |
Chr10:76913799 [GRCh38] Chr10:78673557 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1224-165T>A |
single nucleotide variant |
not provided [RCV001694666] |
Chr10:77090675 [GRCh38] Chr10:78850433 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1224-170G>A |
single nucleotide variant |
not provided [RCV001637576] |
Chr10:77090680 [GRCh38] Chr10:78850438 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1593+78AC[21] |
microsatellite |
not provided [RCV001635791] |
Chr10:77079369..77079370 [GRCh38] Chr10:78839127..78839128 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.378+560G>A |
single nucleotide variant |
not provided [RCV001594797] |
Chr10:77636705 [GRCh38] Chr10:79396463 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1334+146G>A |
single nucleotide variant |
not provided [RCV001621171] |
Chr10:77090254 [GRCh38] Chr10:78850012 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.3343-72G>A |
single nucleotide variant |
not provided [RCV001598966] |
Chr10:76889641 [GRCh38] Chr10:78649399 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.602+59T>C |
single nucleotide variant |
not provided [RCV001678490] |
Chr10:77251136 [GRCh38] Chr10:79010894 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.2016-208C>A |
single nucleotide variant |
not provided [RCV001674323] |
Chr10:77012251 [GRCh38] Chr10:78772009 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1593+11G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001102565] |
Chr10:77079470 [GRCh38] Chr10:78839228 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1315C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104011] |
Chr10:76885951 [GRCh38] Chr10:78645709 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.*129T>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107739] |
Chr10:76887137 [GRCh38] Chr10:78646895 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2276A>C (p.Glu759Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107810] |
Chr10:76970058 [GRCh38] Chr10:78729816 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3138C>G (p.Leu1046=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104404] |
Chr10:76909975 [GRCh38] Chr10:78669733 [GRCh37] Chr10:10q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.-104G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107900] |
Chr10:77637746 [GRCh38] Chr10:79397504 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1633C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104008] |
Chr10:76885633 [GRCh38] Chr10:78645391 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2408A>T (p.Asp803Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001196768] |
Chr10:76953877 [GRCh38] Chr10:78713635 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1529C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104009] |
Chr10:76885737 [GRCh38] Chr10:78645495 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*1507G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104010] |
Chr10:76885759 [GRCh38] Chr10:78645517 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*21G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104092] |
Chr10:76887245 [GRCh38] Chr10:78647003 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107149]|not provided [RCV002511041] |
Chr10:76949340 [GRCh38] Chr10:78709098 [GRCh37] Chr10:10q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.*115C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107740] |
Chr10:76887151 [GRCh38] Chr10:78646909 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1860-4G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107811] |
Chr10:77027895 [GRCh38] Chr10:78787653 [GRCh37] Chr10:10q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.-131C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107901] |
Chr10:77637773 [GRCh38] Chr10:79397531 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3462-46T>C |
single nucleotide variant |
not provided [RCV001567491] |
Chr10:76887561 [GRCh38] Chr10:78647319 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.741C>A (p.Asn247Lys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001034811] |
Chr10:77183488 [GRCh38] Chr10:78943246 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.961-13C>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002070380]|not provided [RCV001530871] |
Chr10:77110356 [GRCh38] Chr10:78870114 [GRCh37] Chr10:10q22.3 |
benign|likely benign |
NM_001161352.2(KCNMA1):c.960+48C>A |
single nucleotide variant |
not provided [RCV001613845] |
Chr10:77112319 [GRCh38] Chr10:78872077 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1131+41G>T |
single nucleotide variant |
not provided [RCV001587205] |
Chr10:77110132 [GRCh38] Chr10:78869890 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2015+38G>A |
single nucleotide variant |
not provided [RCV001583156] |
Chr10:77018975 [GRCh38] Chr10:78778733 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1441-11C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002070411]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002495934]|not provided [RCV001584667] |
Chr10:77084730 [GRCh38] Chr10:78844488 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1335-254A>G |
single nucleotide variant |
not provided [RCV001691362] |
Chr10:77086847 [GRCh38] Chr10:78846605 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.2267-264_2267-263del |
deletion |
not provided [RCV001724439] |
Chr10:76970330..76970331 [GRCh38] Chr10:78730088..78730089 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1593+78AC[19] |
microsatellite |
not provided [RCV001681966] |
Chr10:77079369..77079370 [GRCh38] Chr10:78839127..78839128 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.379-86C>G |
single nucleotide variant |
not provided [RCV001644242] |
Chr10:77404109 [GRCh38] Chr10:79163867 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1928+2567_1928+2582del |
deletion |
not provided [RCV001681296] |
Chr10:77025241..77025256 [GRCh38] Chr10:78784999..78785014 [GRCh37] Chr10:10q22.3 |
benign |
NC_000010.11:g.77637916G>A |
single nucleotide variant |
not provided [RCV001685053] |
Chr10:77637916 [GRCh38] Chr10:79397674 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.2503A>G (p.Met835Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001070243] |
Chr10:76949348 [GRCh38] Chr10:78709106 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1593+78AC[20] |
microsatellite |
not provided [RCV001540751] |
Chr10:77079369..77079370 [GRCh38] Chr10:78839127..78839128 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.122C>T (p.Ser41Phe) |
single nucleotide variant |
Cerebellar atrophy, developmental delay, and seizures [RCV001291789]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001060049] |
Chr10:77637521 [GRCh38] Chr10:79397279 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001052678] |
Chr10:76887478 [GRCh38] Chr10:78647236 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2078G>A (p.Cys693Tyr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001217753] |
Chr10:77011981 [GRCh38] Chr10:78771739 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1936A>G (p.Ile646Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001041970] |
Chr10:77019092 [GRCh38] Chr10:78778850 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.144TTC[2] (p.Ser59_Ser60del) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001060413] |
Chr10:77637488..77637493 [GRCh38] Chr10:79397246..79397251 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.3697G>A (p.Glu1233Lys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001198946] |
Chr10:76887280 [GRCh38] Chr10:78647038 [GRCh37] Chr10:10q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.3578C>T (p.Ser1193Phe) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001213102] |
Chr10:76887399 [GRCh38] Chr10:78647157 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2710G>A (p.Gly904Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001202477] |
Chr10:76944965 [GRCh38] Chr10:78704723 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.813G>C (p.Leu271Phe) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001216510] |
Chr10:77121044 [GRCh38] Chr10:78880802 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.91G>T (p.Ala31Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001216659] |
Chr10:77637552 [GRCh38] Chr10:79397310 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.36_65del (p.Gly13_Ser22del) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001212956] |
Chr10:77637578..77637607 [GRCh38] Chr10:79397336..79397365 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3147+15T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104403] |
Chr10:76909951 [GRCh38] Chr10:78669709 [GRCh37] Chr10:10q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.3129G>A (p.Leu1043=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001040231] |
Chr10:76909984 [GRCh38] Chr10:78669742 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.602+12A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104491] |
Chr10:77251183 [GRCh38] Chr10:79010941 [GRCh37] Chr10:10q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001161352.2(KCNMA1):c.3281A>G (p.Asn1094Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001234501]|not provided [RCV001760243] |
Chr10:76891586 [GRCh38] Chr10:78651344 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2956G>C (p.Gly986Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001059546] |
Chr10:76914996 [GRCh38] Chr10:78674754 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3674G>A (p.Arg1225Gln) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001247172]|not provided [RCV003130230] |
Chr10:76887303 [GRCh38] Chr10:78647061 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*2326C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001106978] |
Chr10:76884940 [GRCh38] Chr10:78644698 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*2138C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107633] |
Chr10:76885128 [GRCh38] Chr10:78644886 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.*69A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107741] |
Chr10:76887197 [GRCh38] Chr10:78646955 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_002247.3(KCNMA1):c.-175C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001107902] |
Chr10:77637817 [GRCh38] Chr10:79397575 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.*50C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001104091] |
Chr10:76887216 [GRCh38] Chr10:78646974 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2345C>T (p.Ser782Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001215186] |
Chr10:76969989 [GRCh38] Chr10:78729747 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2588C>T (p.Pro863Leu) |
single nucleotide variant |
Intellectual disability [RCV001252026]|KCNMA1-related disorders [RCV001420997]|Liang-Wang syndrome [RCV001775159]|not provided [RCV001751518] |
Chr10:76949263 [GRCh38] Chr10:78709021 [GRCh37] Chr10:10q22.3 |
pathogenic|likely pathogenic|likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.1831G>C (p.Val611Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001253327] |
Chr10:77039556 [GRCh38] Chr10:78799314 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.152C>T (p.Ser51Phe) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001253510] |
Chr10:77637491 [GRCh38] Chr10:79397249 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1127G>A (p.Gly376Glu) |
single nucleotide variant |
Epilepsy, idiopathic generalized, susceptibility to, 16 [RCV001262815] |
Chr10:77110177 [GRCh38] Chr10:78869935 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3619C>A (p.His1207Asn) |
single nucleotide variant |
Global developmental delay [RCV001787702] |
Chr10:76887358 [GRCh38] Chr10:78647116 [GRCh37] Chr10:10q22.3 |
uncertain significance |
GRCh37/hg19 10q22.3(chr10:79356214-79614826)x3 |
copy number gain |
not provided [RCV001260106] |
Chr10:79356214..79614826 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.59G>A (p.Gly20Asp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001295223]|not provided [RCV003456487] |
Chr10:77637584 [GRCh38] Chr10:79397342 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2092+3781T>C |
single nucleotide variant |
Seizure [RCV001255085] |
Chr10:77008186 [GRCh38] Chr10:78767944 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2993A>G (p.Asn998Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001257264] |
Chr10:76914959 [GRCh38] Chr10:78674717 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2122C>T (p.Arg708Trp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001291678] |
Chr10:77001551 [GRCh38] Chr10:78761309 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1792T>G (p.Ser598Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001304112] |
Chr10:77039595 [GRCh38] Chr10:78799353 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1860-151C>T |
single nucleotide variant |
not provided [RCV001538209] |
Chr10:77028042 [GRCh38] Chr10:78787800 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3343-275A>G |
single nucleotide variant |
not provided [RCV001536257] |
Chr10:76889844 [GRCh38] Chr10:78649602 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1699G>A (p.Gly567Ser) |
single nucleotide variant |
Cerebellar atrophy, developmental delay, and seizures [RCV001260493] |
Chr10:77073147 [GRCh38] Chr10:78832905 [GRCh37] Chr10:10q22.3 |
likely pathogenic |
NM_001161352.2(KCNMA1):c.2806A>G (p.Thr936Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001294265] |
Chr10:76944869 [GRCh38] Chr10:78704627 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.808+164T>C |
single nucleotide variant |
not provided [RCV001537008] |
Chr10:77183257 [GRCh38] Chr10:78943015 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.3022G>A (p.Asp1008Asn) |
single nucleotide variant |
Intellectual disability [RCV001257729]|Liang-Wang syndrome [RCV002269354] |
Chr10:76910091 [GRCh38] Chr10:78669849 [GRCh37] Chr10:10q22.3 |
pathogenic|likely pathogenic |
GRCh37/hg19 10q22.3(chr10:79037596-79123321)x1 |
copy number loss |
not provided [RCV001258448] |
Chr10:79037596..79123321 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2484+1682T>C |
single nucleotide variant |
not provided [RCV001311713] |
Chr10:76952119 [GRCh38] Chr10:78711877 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2021T>A (p.Phe674Tyr) |
single nucleotide variant |
not provided [RCV001311714] |
Chr10:77012038 [GRCh38] Chr10:78771796 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1336A>G (p.Ile446Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001324879] |
Chr10:77086592 [GRCh38] Chr10:78846350 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.762G>A (p.Thr254=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001341993] |
Chr10:77183467 [GRCh38] Chr10:78943225 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.499G>C (p.Gly167Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001350429] |
Chr10:77403903 [GRCh38] Chr10:79163661 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.4G>A (p.Ala2Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001301840] |
Chr10:77637639 [GRCh38] Chr10:79397397 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3166A>G (p.Ile1056Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001325465] |
Chr10:76891701 [GRCh38] Chr10:78651459 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3547G>A (p.Gly1183Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001308750]|not provided [RCV001546310] |
Chr10:76887430 [GRCh38] Chr10:78647188 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.3598A>G (p.Ser1200Gly) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001348755]|not provided [RCV001751681] |
Chr10:76887379 [GRCh38] Chr10:78647137 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.559C>G (p.Leu187Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001321392] |
Chr10:77251238 [GRCh38] Chr10:79010996 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.365G>C (p.Gly122Ala) |
single nucleotide variant |
Cerebellar atrophy, developmental delay, and seizures [RCV003339585]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001303799]|Inborn genetic diseases [RCV003166717]|not provided [RCV001732119] |
Chr10:77637278 [GRCh38] Chr10:79397036 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NC_000010.10:g.(?_79163610)_(79397400_?)dup |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001300096] |
Chr10:79163610..79397400 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3149C>T (p.Thr1050Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001304062] |
Chr10:76891718 [GRCh38] Chr10:78651476 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2508C>T (p.Thr836=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001434101] |
Chr10:76949343 [GRCh38] Chr10:78709101 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1749+5C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001352449] |
Chr10:77073092 [GRCh38] Chr10:78832850 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.747A>G (p.Val249=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001422547] |
Chr10:77183482 [GRCh38] Chr10:78943240 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2404A>G (p.Met802Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001372723]|Inborn genetic diseases [RCV002550162] |
Chr10:76953881 [GRCh38] Chr10:78713639 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3357T>C (p.Tyr1119=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001396979] |
Chr10:76889555 [GRCh38] Chr10:78649313 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2067A>C (p.Arg689Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001368857]|not provided [RCV003169888] |
Chr10:77011992 [GRCh38] Chr10:78771750 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.349G>A (p.Val117Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001360178] |
Chr10:77637294 [GRCh38] Chr10:79397052 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1171A>G (p.Ile391Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001359269] |
Chr10:77108533 [GRCh38] Chr10:78868291 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.92C>T (p.Ala31Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001343465] |
Chr10:77637551 [GRCh38] Chr10:79397309 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.361T>C (p.Cys121Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001341922] |
Chr10:77637282 [GRCh38] Chr10:79397040 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.368G>A (p.Gly123Asp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001323888]|not provided [RCV003227025] |
Chr10:77637275 [GRCh38] Chr10:79397033 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.657G>A (p.Met219Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001346617] |
Chr10:77184862 [GRCh38] Chr10:78944620 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.930G>A (p.Thr310=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001460652]|not provided [RCV001289076] |
Chr10:77112397 [GRCh38] Chr10:78872155 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.36CGG[11] (p.Gly17_Gly20dup) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001323059] |
Chr10:77637586..77637587 [GRCh38] Chr10:79397344..79397345 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3440C>T (p.Thr1147Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001373881]|not provided [RCV001773738] |
Chr10:76889472 [GRCh38] Chr10:78649230 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NC_000010.10:g.(?_79396125)_(79397420_?)dup |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001372242] |
Chr10:79396125..79397420 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.90C>A (p.His30Gln) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001318962] |
Chr10:77637553 [GRCh38] Chr10:79397311 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.283A>G (p.Met95Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001322342] |
Chr10:77637360 [GRCh38] Chr10:79397118 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.30_56dup (p.Ser11_Gly19dup) |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001361889] |
Chr10:77637586..77637587 [GRCh38] Chr10:79397344..79397345 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.34_39del (p.Ser12_Gly13del) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001323633] |
Chr10:77637604..77637609 [GRCh38] Chr10:79397362..79397367 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.112G>A (p.Ala38Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001363714] |
Chr10:77637531 [GRCh38] Chr10:79397289 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3145G>A (p.Ala1049Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001348175] |
Chr10:76909968 [GRCh38] Chr10:78669726 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3661T>A (p.Ser1221Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001314365] |
Chr10:76887316 [GRCh38] Chr10:78647074 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3035A>G (p.Gln1012Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001319664] |
Chr10:76910078 [GRCh38] Chr10:78669836 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.55G>A (p.Gly19Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001363966] |
Chr10:77637588 [GRCh38] Chr10:79397346 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2089C>T (p.Arg697Trp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001306285]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002493605] |
Chr10:77011970 [GRCh38] Chr10:78771728 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3690C>A (p.Tyr1230Ter) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001308479] |
Chr10:76887287 [GRCh38] Chr10:78647045 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.378+470A>G |
single nucleotide variant |
not provided [RCV001311715] |
Chr10:77636795 [GRCh38] Chr10:79396553 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1534A>G (p.Ile512Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001297393] |
Chr10:77079540 [GRCh38] Chr10:78839298 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1493C>T (p.Pro498Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001340037] |
Chr10:77084667 [GRCh38] Chr10:78844425 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.14_15insAGG (p.Gly10dup) |
insertion |
Cerebellar atrophy, developmental delay, and seizures [RCV001328937] |
Chr10:77637628..77637629 [GRCh38] Chr10:79397386..79397387 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.385C>G (p.Gln129Glu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001296424] |
Chr10:77404017 [GRCh38] Chr10:79163775 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2966G>A (p.Arg989His) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001338185]|Inborn genetic diseases [RCV002546839] |
Chr10:76914986 [GRCh38] Chr10:78674744 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3611C>T (p.Ser1204Phe) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001316144] |
Chr10:76887366 [GRCh38] Chr10:78647124 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.13GGC[4] (p.Gly9_Gly10del) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001369713] |
Chr10:77637613..77637618 [GRCh38] Chr10:79397371..79397376 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1807A>G (p.Thr603Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001300650] |
Chr10:77039580 [GRCh38] Chr10:78799338 [GRCh37] Chr10:10q22.3 |
likely pathogenic|uncertain significance |
NM_001161352.2(KCNMA1):c.3485A>G (p.Tyr1162Cys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002015033] |
Chr10:76887492 [GRCh38] Chr10:78647250 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.144TTC[6] (p.Ser59_Ser60dup) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001312774] |
Chr10:77637487..77637488 [GRCh38] Chr10:79397245..79397246 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.514G>A (p.Ala172Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001352140]|not provided [RCV001664844] |
Chr10:77403888 [GRCh38] Chr10:79163646 [GRCh37] Chr10:10q22.3 |
pathogenic|uncertain significance |
NM_001161352.2(KCNMA1):c.2376A>G (p.Leu792=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001498452] |
Chr10:76953909 [GRCh38] Chr10:78713667 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1334+8C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001457364] |
Chr10:77090392 [GRCh38] Chr10:78850150 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3210G>A (p.Pro1070=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001487436] |
Chr10:76891657 [GRCh38] Chr10:78651415 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.642A>G (p.Thr214=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001468503] |
Chr10:77184877 [GRCh38] Chr10:78944635 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2277G>A (p.Glu759=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001506068] |
Chr10:76970057 [GRCh38] Chr10:78729815 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1431A>G (p.Ala477=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001451229] |
Chr10:77086497 [GRCh38] Chr10:78846255 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2589G>A (p.Pro863=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001405045] |
Chr10:76949262 [GRCh38] Chr10:78709020 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1666T>C (p.Leu556=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001475585] |
Chr10:77073180 [GRCh38] Chr10:78832938 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2916A>G (p.Pro972=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001491539] |
Chr10:76915036 [GRCh38] Chr10:78674794 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2508C>A (p.Thr836=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001397794] |
Chr10:76949343 [GRCh38] Chr10:78709101 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3016+9C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001405995] |
Chr10:76914927 [GRCh38] Chr10:78674685 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1614G>C (p.Pro538=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001484382] |
Chr10:77073232 [GRCh38] Chr10:78832990 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2015+37C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001521838]|not provided [RCV001655783] |
Chr10:77018976 [GRCh38] Chr10:78778734 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.504G>A (p.Val168=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001485884] |
Chr10:77403898 [GRCh38] Chr10:79163656 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.399T>C (p.Asn133=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001460729] |
Chr10:77404003 [GRCh38] Chr10:79163761 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1635T>C (p.Gly545=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001438259] |
Chr10:77073211 [GRCh38] Chr10:78832969 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2092+9T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001418395] |
Chr10:77011958 [GRCh38] Chr10:78771716 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2313G>A (p.Arg771=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001411992] |
Chr10:76970021 [GRCh38] Chr10:78729779 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1470T>C (p.Leu490=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001440854] |
Chr10:77084690 [GRCh38] Chr10:78844448 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.300G>C (p.Gly100=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001448912] |
Chr10:77637343 [GRCh38] Chr10:79397101 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.302dup (p.Leu102fs) |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001385175] |
Chr10:77637340..77637341 [GRCh38] Chr10:79397098..79397099 [GRCh37] Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.1788A>G (p.Gly596=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001430671] |
Chr10:77039599 [GRCh38] Chr10:78799357 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1206T>C (p.Ser402=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001399331] |
Chr10:77108498 [GRCh38] Chr10:78868256 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.70A>C (p.Arg24=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001418034] |
Chr10:77637573 [GRCh38] Chr10:79397331 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1928+10C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001407778] |
Chr10:77027813 [GRCh38] Chr10:78787571 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2496A>G (p.Glu832=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001447013] |
Chr10:76949355 [GRCh38] Chr10:78709113 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1860-7A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001410235] |
Chr10:77027898 [GRCh38] Chr10:78787656 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1197C>T (p.Gly399=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001410369] |
Chr10:77108507 [GRCh38] Chr10:78868265 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.234G>A (p.Pro78=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001449546] |
Chr10:77637409 [GRCh38] Chr10:79397167 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.603-9_603-6del |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001408193] |
Chr10:77184922..77184925 [GRCh38] Chr10:78944680..78944683 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3324G>A (p.Gly1108=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001431592] |
Chr10:76891543 [GRCh38] Chr10:78651301 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3504G>A (p.Pro1168=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001405991] |
Chr10:76887473 [GRCh38] Chr10:78647231 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3621C>T (p.His1207=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001408540] |
Chr10:76887356 [GRCh38] Chr10:78647114 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.72A>G (p.Arg24=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001419451] |
Chr10:77637571 [GRCh38] Chr10:79397329 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2427C>T (p.Tyr809=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001448334] |
Chr10:76953858 [GRCh38] Chr10:78713616 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2877C>T (p.Ile959=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001438529] |
Chr10:76944798 [GRCh38] Chr10:78704556 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3148-6C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001454224] |
Chr10:76891725 [GRCh38] Chr10:78651483 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.808+10C>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001457127] |
Chr10:77183411 [GRCh38] Chr10:78943169 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1860-225A>G |
single nucleotide variant |
not provided [RCV001681550] |
Chr10:77028116 [GRCh38] Chr10:78787874 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.379-103A>G |
single nucleotide variant |
not provided [RCV001670928] |
Chr10:77404126 [GRCh38] Chr10:79163884 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1928+2565_1928+2582del |
deletion |
not provided [RCV001694757] |
Chr10:77025241..77025258 [GRCh38] Chr10:78784999..78785016 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1860-215T>C |
single nucleotide variant |
not provided [RCV001588629] |
Chr10:77028106 [GRCh38] Chr10:78787864 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2955C>T (p.His985=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001454704] |
Chr10:76914997 [GRCh38] Chr10:78674755 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3306G>A (p.Gln1102=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001458440] |
Chr10:76891561 [GRCh38] Chr10:78651319 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1223+71_1223+73del |
deletion |
not provided [RCV001671331] |
Chr10:77108408..77108410 [GRCh38] Chr10:78868166..78868168 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.3016+339T>C |
single nucleotide variant |
not provided [RCV001587063] |
Chr10:76914597 [GRCh38] Chr10:78674355 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2360+63T>C |
single nucleotide variant |
not provided [RCV001716033] |
Chr10:76969911 [GRCh38] Chr10:78729669 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1928+2575_1928+2582del |
deletion |
not provided [RCV001684656] |
Chr10:77025241..77025248 [GRCh38] Chr10:78784999..78785006 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1593+78AC[16] |
microsatellite |
not provided [RCV001713611] |
Chr10:77079370..77079371 [GRCh38] Chr10:78839128..78839129 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.696+281T>C |
single nucleotide variant |
not provided [RCV001649984] |
Chr10:77184542 [GRCh38] Chr10:78944300 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.2267-263del |
deletion |
not provided [RCV001611649] |
Chr10:76970330 [GRCh38] Chr10:78730088 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.2361-215G>C |
single nucleotide variant |
not provided [RCV001710601] |
Chr10:76954139 [GRCh38] Chr10:78713897 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.894C>T (p.Ile298=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001452705] |
Chr10:77112433 [GRCh38] Chr10:78872191 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2360+97C>T |
single nucleotide variant |
not provided [RCV001591504] |
Chr10:76969877 [GRCh38] Chr10:78729635 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1859+9C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001460238] |
Chr10:77039519 [GRCh38] Chr10:78799277 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2316T>C (p.Asn772=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001463333]|not provided [RCV001813825] |
Chr10:76970018 [GRCh38] Chr10:78729776 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3016+83T>C |
single nucleotide variant |
not provided [RCV001689506] |
Chr10:76914853 [GRCh38] Chr10:78674611 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1928+2563_1928+2582del |
deletion |
not provided [RCV001618802] |
Chr10:77025241..77025260 [GRCh38] Chr10:78784999..78785018 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1223+35C>T |
single nucleotide variant |
not provided [RCV001687845] |
Chr10:77108446 [GRCh38] Chr10:78868204 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.3471C>T (p.Ile1157=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001480883]|not provided [RCV001664896] |
Chr10:76887506 [GRCh38] Chr10:78647264 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.1223+72_1223+73del |
deletion |
not provided [RCV001667984] |
Chr10:77108408..77108409 [GRCh38] Chr10:78868166..78868167 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.288G>T (p.Val96=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001453573] |
Chr10:77637355 [GRCh38] Chr10:79397113 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.809-137T>C |
single nucleotide variant |
not provided [RCV001650210] |
Chr10:77121185 [GRCh38] Chr10:78880943 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.717A>G (p.Lys239=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001416910] |
Chr10:77183512 [GRCh38] Chr10:78943270 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3444C>T (p.Pro1148=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001485850] |
Chr10:76889468 [GRCh38] Chr10:78649226 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.861G>A (p.Gln287=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001467248] |
Chr10:77120996 [GRCh38] Chr10:78880754 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2778G>A (p.Leu926=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001504753] |
Chr10:76944897 [GRCh38] Chr10:78704655 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.567C>T (p.Ile189=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001455582] |
Chr10:77251230 [GRCh38] Chr10:79010988 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1132-5C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001468722] |
Chr10:77108577 [GRCh38] Chr10:78868335 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.808+8A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001465062] |
Chr10:77183413 [GRCh38] Chr10:78943171 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.12T>C (p.Gly4=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001476265] |
Chr10:77637631 [GRCh38] Chr10:79397389 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2340C>T (p.Asn780=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001480333]|not provided [RCV001796516] |
Chr10:76969994 [GRCh38] Chr10:78729752 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1485C>T (p.Cys495=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001453340] |
Chr10:77084675 [GRCh38] Chr10:78844433 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.462C>T (p.Ala154=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001392918]|not provided [RCV002276243] |
Chr10:77403940 [GRCh38] Chr10:79163698 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.513C>T (p.Ser171=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001423342]|not provided [RCV001548689] |
Chr10:77403889 [GRCh38] Chr10:79163647 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.207C>G (p.Leu69=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001418139] |
Chr10:77637436 [GRCh38] Chr10:79397194 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1859+9C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001401889] |
Chr10:77039519 [GRCh38] Chr10:78799277 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2664G>A (p.Arg888=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001504348] |
Chr10:76949187 [GRCh38] Chr10:78708945 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2057A>T (p.Asp686Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002539859]|not provided [RCV001756279] |
Chr10:77012002 [GRCh38] Chr10:78771760 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1437del (p.Lys480fs) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002250063] |
Chr10:77086491 [GRCh38] Chr10:78846249 [GRCh37] Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.237C>G (p.Cys79Trp) |
single nucleotide variant |
not provided [RCV001755015] |
Chr10:77637406 [GRCh38] Chr10:79397164 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.378+792_378+793dup |
duplication |
not provided [RCV001763695] |
Chr10:77636471..77636472 [GRCh38] Chr10:79396229..79396230 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.527C>G (p.Thr176Ser) |
single nucleotide variant |
not provided [RCV003238522] |
Chr10:77403875 [GRCh38] Chr10:79163633 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1957A>G (p.Lys653Glu) |
single nucleotide variant |
not provided [RCV001770630] |
Chr10:77019071 [GRCh38] Chr10:78778829 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3415C>T (p.Arg1139Trp) |
single nucleotide variant |
not provided [RCV001773384] |
Chr10:76889497 [GRCh38] Chr10:78649255 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3637G>A (p.Ala1213Thr) |
single nucleotide variant |
not provided [RCV001774651] |
Chr10:76887340 [GRCh38] Chr10:78647098 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1870G>A (p.Val624Met) |
single nucleotide variant |
not provided [RCV001752287] |
Chr10:77027881 [GRCh38] Chr10:78787639 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2411C>T (p.Ser804Phe) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001882848]|not provided [RCV001765017] |
Chr10:76953874 [GRCh38] Chr10:78713632 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.670T>C (p.Phe224Leu) |
single nucleotide variant |
not provided [RCV001774471] |
Chr10:77184849 [GRCh38] Chr10:78944607 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.95A>T (p.Asn32Ile) |
single nucleotide variant |
not provided [RCV001754074] |
Chr10:77637548 [GRCh38] Chr10:79397306 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3131A>G (p.Asp1044Gly) |
single nucleotide variant |
not provided [RCV001758337] |
Chr10:76909982 [GRCh38] Chr10:78669740 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2572C>T (p.Arg858Trp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002539141]|Seizure [RCV002271992]|not provided [RCV001758695] |
Chr10:76949279 [GRCh38] Chr10:78709037 [GRCh37] Chr10:10q22.3 |
likely pathogenic|uncertain significance |
NM_001161352.2(KCNMA1):c.710A>G (p.Asn237Ser) |
single nucleotide variant |
not provided [RCV001763685] |
Chr10:77183519 [GRCh38] Chr10:78943277 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2267-4486C>T |
single nucleotide variant |
not provided [RCV003416412]|not specified [RCV001733587] |
Chr10:76974553 [GRCh38] Chr10:78734311 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.2789A>C (p.Gln930Pro) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001885219]|not provided [RCV001794843] |
Chr10:76944886 [GRCh38] Chr10:78704644 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.585C>T (p.Tyr195=) |
single nucleotide variant |
not provided [RCV001760845] |
Chr10:77251212 [GRCh38] Chr10:79010970 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.175T>C (p.Ser59Pro) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001882825]|not provided [RCV001757836] |
Chr10:77637468 [GRCh38] Chr10:79397226 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2363_2369del (p.His788fs) |
deletion |
not specified [RCV001815141] |
Chr10:76953916..76953922 [GRCh38] Chr10:78713674..78713680 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.378+398C>A |
single nucleotide variant |
not provided [RCV001815708] |
Chr10:77636867 [GRCh38] Chr10:79396625 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1642G>A (p.Ala548Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001863499]|not provided [RCV002267126] |
Chr10:77073204 [GRCh38] Chr10:78832962 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1594-6C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001912094] |
Chr10:77073258 [GRCh38] Chr10:78833016 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1849A>G (p.Thr617Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001970539] |
Chr10:77039538 [GRCh38] Chr10:78799296 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.378+5C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001891322] |
Chr10:77637260 [GRCh38] Chr10:79397018 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1334+3A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001986986] |
Chr10:77090397 [GRCh38] Chr10:78850155 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2092+1G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002009234]|KCNMA1-related condition [RCV003418330] |
Chr10:77011966 [GRCh38] Chr10:78771724 [GRCh37] Chr10:10q22.3 |
likely pathogenic|uncertain significance |
NM_001161352.2(KCNMA1):c.2701A>C (p.Ile901Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001912380] |
Chr10:76949150 [GRCh38] Chr10:78708908 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3289C>T (p.Arg1097Cys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001928977] |
Chr10:76891578 [GRCh38] Chr10:78651336 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1284del (p.Leu429fs) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001945420] |
Chr10:77090450 [GRCh38] Chr10:78850208 [GRCh37] Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.34_39dup (p.Ser12_Gly13dup) |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002009272] |
Chr10:77637603..77637604 [GRCh38] Chr10:79397361..79397362 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1442T>C (p.Ile481Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001864174]|Inborn genetic diseases [RCV002548698] |
Chr10:77084718 [GRCh38] Chr10:78844476 [GRCh37] Chr10:10q22.3 |
uncertain significance |
GRCh37/hg19 10q22.3(chr10:79284201-79351792)x1 |
copy number loss |
not provided [RCV001827684] |
Chr10:79284201..79351792 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.374C>T (p.Thr125Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001863582] |
Chr10:77637269 [GRCh38] Chr10:79397027 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.70_73del (p.Leu23_Arg24insTer) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001988029]|not provided [RCV003327547] |
Chr10:77637570..77637573 [GRCh38] Chr10:79397328..79397331 [GRCh37] Chr10:10q22.3 |
pathogenic|likely pathogenic |
NC_000010.10:g.(?_78998319)_(79163801_?)dup |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002024432] |
Chr10:78998319..79163801 [GRCh37] Chr10:10q22.3 |
likely pathogenic |
NM_001161352.2(KCNMA1):c.419G>T (p.Gly140Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001894664] |
Chr10:77403983 [GRCh38] Chr10:79163741 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3703C>T (p.Arg1235Trp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001896344] |
Chr10:76887274 [GRCh38] Chr10:78647032 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.884+6A>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001872155] |
Chr10:77120967 [GRCh38] Chr10:78880725 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2387A>T (p.Asn796Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001911988] |
Chr10:76953898 [GRCh38] Chr10:78713656 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1332C>T (p.His444=) |
single nucleotide variant |
Cerebellar atrophy, developmental delay, and seizures [RCV001839216] |
Chr10:77090402 [GRCh38] Chr10:78850160 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.253C>A (p.Arg85Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001910312] |
Chr10:77637390 [GRCh38] Chr10:79397148 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.700A>T (p.Ile234Phe) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001888935] |
Chr10:77183529 [GRCh38] Chr10:78943287 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1334+1G>T |
single nucleotide variant |
Liang-Wang syndrome [RCV002052154] |
Chr10:77090399 [GRCh38] Chr10:78850157 [GRCh37] Chr10:10q22.3 |
likely pathogenic |
NM_001161352.2(KCNMA1):c.3457A>C (p.Lys1153Gln) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001889899] |
Chr10:76889455 [GRCh38] Chr10:78649213 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3266C>T (p.Pro1089Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002020975] |
Chr10:76891601 [GRCh38] Chr10:78651359 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1990G>A (p.Ala664Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001890243] |
Chr10:77019038 [GRCh38] Chr10:78778796 [GRCh37] Chr10:10q22.3 |
uncertain significance |
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) |
copy number loss |
not specified [RCV002052875] |
Chr10:68735254..78885714 [GRCh37] Chr10:10q21.3-22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.1822A>G (p.Ser608Gly) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001890995]|not provided [RCV003134196] |
Chr10:77039565 [GRCh38] Chr10:78799323 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.364G>A (p.Gly122Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002043934] |
Chr10:77637279 [GRCh38] Chr10:79397037 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.732G>A (p.Leu244=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001967713] |
Chr10:77183497 [GRCh38] Chr10:78943255 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.1229T>C (p.Ile410Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002023346] |
Chr10:77090505 [GRCh38] Chr10:78850263 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.608T>C (p.Ile203Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002006084] |
Chr10:77184911 [GRCh38] Chr10:78944669 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3117C>G (p.Ala1039=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001913117] |
Chr10:76909996 [GRCh38] Chr10:78669754 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.2710-3A>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002024597] |
Chr10:76944968 [GRCh38] Chr10:78704726 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.140C>T (p.Ser47Phe) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001912818] |
Chr10:77637503 [GRCh38] Chr10:79397261 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.13GGC[3] (p.Gly8_Gly10del) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002040199] |
Chr10:77637613..77637621 [GRCh38] Chr10:79397371..79397379 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.378+5538T>G |
single nucleotide variant |
Epilepsy, idiopathic generalized, susceptibility to, 16 [RCV001837325] |
Chr10:77631727 [GRCh38] Chr10:79391485 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2306A>C (p.Lys769Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002036986] |
Chr10:76970028 [GRCh38] Chr10:78729786 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1850C>T (p.Thr617Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001887846]|not provided [RCV002077336] |
Chr10:77039537 [GRCh38] Chr10:78799295 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.352T>G (p.Cys118Gly) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002031894] |
Chr10:77637291 [GRCh38] Chr10:79397049 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.411G>C (p.Gln137His) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001925181] |
Chr10:77403991 [GRCh38] Chr10:79163749 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.378+5C>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001942620] |
Chr10:77637260 [GRCh38] Chr10:79397018 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3146C>T (p.Ala1049Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001993603] |
Chr10:76909967 [GRCh38] Chr10:78669725 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.574C>A (p.Leu192Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001976650] |
Chr10:77251223 [GRCh38] Chr10:79010981 [GRCh37] Chr10:10q22.3 |
likely pathogenic |
NM_001161352.2(KCNMA1):c.3147+3G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002050883] |
Chr10:76909963 [GRCh38] Chr10:78669721 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.36CGG[6] (p.Gly20del) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001880402] |
Chr10:77637587..77637589 [GRCh38] Chr10:79397345..79397347 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.112G>C (p.Ala38Pro) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001935416] |
Chr10:77637531 [GRCh38] Chr10:79397289 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.362_363delinsTT (p.Cys121Phe) |
indel |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001921451] |
Chr10:77637280..77637281 [GRCh38] Chr10:79397038..79397039 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3148A>G (p.Thr1050Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001957276] |
Chr10:76891719 [GRCh38] Chr10:78651477 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2481C>G (p.Ile827Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001995295] |
Chr10:76953804 [GRCh38] Chr10:78713562 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1928G>T (p.Arg643Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001922087] |
Chr10:77027823 [GRCh38] Chr10:78787581 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2783C>T (p.Ala928Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001933205] |
Chr10:76944892 [GRCh38] Chr10:78704650 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NC_000010.10:g.(?_78998319)_(79163801_?)del |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001956163] |
Chr10:78998319..79163801 [GRCh37] Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.1870G>T (p.Val624Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001916175] |
Chr10:77027881 [GRCh38] Chr10:78787639 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.179C>T (p.Ser60Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001906338]|not specified [RCV002246584] |
Chr10:77637464 [GRCh38] Chr10:79397222 [GRCh37] Chr10:10q22.3 |
benign|uncertain significance |
NM_001161352.2(KCNMA1):c.3118G>A (p.Val1040Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001940228] |
Chr10:76909995 [GRCh38] Chr10:78669753 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1952A>T (p.His651Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001960347] |
Chr10:77019076 [GRCh38] Chr10:78778834 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.447G>C (p.Glu149Asp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001959806] |
Chr10:77403955 [GRCh38] Chr10:79163713 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.225G>A (p.Met75Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001918058] |
Chr10:77637418 [GRCh38] Chr10:79397176 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2521del (p.His841fs) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001923418] |
Chr10:76949330 [GRCh38] Chr10:78709088 [GRCh37] Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.1909T>G (p.Ser637Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001917005] |
Chr10:77027842 [GRCh38] Chr10:78787600 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.441A>T (p.Glu147Asp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001995996] |
Chr10:77403961 [GRCh38] Chr10:79163719 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.97C>T (p.His33Tyr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001905994] |
Chr10:77637546 [GRCh38] Chr10:79397304 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2053A>G (p.Thr685Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002033371] |
Chr10:77012006 [GRCh38] Chr10:78771764 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2873G>T (p.Ser958Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002048946] |
Chr10:76944802 [GRCh38] Chr10:78704560 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.506T>C (p.Met169Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002030343] |
Chr10:77403896 [GRCh38] Chr10:79163654 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.16_33dup (p.Gly6_Ser11dup) |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001916065] |
Chr10:77637609..77637610 [GRCh38] Chr10:79397367..79397368 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1716T>A (p.Leu572=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001884862] |
Chr10:77073130 [GRCh38] Chr10:78832888 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3644G>A (p.Arg1215Gln) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001981061] |
Chr10:76887333 [GRCh38] Chr10:78647091 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.31_51dup (p.Ser11_Gly17dup) |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002030547] |
Chr10:77637591..77637592 [GRCh38] Chr10:79397349..79397350 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1712T>C (p.Met571Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001979864] |
Chr10:77073134 [GRCh38] Chr10:78832892 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.155C>T (p.Ser52Phe) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001906031] |
Chr10:77637488 [GRCh38] Chr10:79397246 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1334+11C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001997657] |
Chr10:77090389 [GRCh38] Chr10:78850147 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2400C>G (p.Asp800Glu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002016125] |
Chr10:76953885 [GRCh38] Chr10:78713643 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.469G>A (p.Gly157Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001884033] |
Chr10:77403933 [GRCh38] Chr10:79163691 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1967A>C (p.Glu656Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002019251]|Inborn genetic diseases [RCV002642018] |
Chr10:77019061 [GRCh38] Chr10:78778819 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.117CTC[11] (p.Ser57_Ser60dup) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002034921] |
Chr10:77637505..77637506 [GRCh38] Chr10:79397263..79397264 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3571C>T (p.His1191Tyr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002036232] |
Chr10:76887406 [GRCh38] Chr10:78647164 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3493G>C (p.Glu1165Gln) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001907048] |
Chr10:76887484 [GRCh38] Chr10:78647242 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2656C>T (p.Leu886Phe) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001919438] |
Chr10:76949195 [GRCh38] Chr10:78708953 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1105A>T (p.Met369Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002014153] |
Chr10:77110199 [GRCh38] Chr10:78869957 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1929-6G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002010524] |
Chr10:77019105 [GRCh38] Chr10:78778863 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2423A>G (p.Lys808Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002029772] |
Chr10:76953862 [GRCh38] Chr10:78713620 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.96C>G (p.Asn32Lys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001975693] |
Chr10:77637547 [GRCh38] Chr10:79397305 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.336G>C (p.Lys112Asn) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001977743] |
Chr10:77637307 [GRCh38] Chr10:79397065 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3316C>T (p.Leu1106Phe) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001881651] |
Chr10:76891551 [GRCh38] Chr10:78651309 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.367G>A (p.Gly123Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV001930677] |
Chr10:77637276 [GRCh38] Chr10:79397034 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.602+12634G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002148389] |
Chr10:77238561 [GRCh38] Chr10:78998319 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1441-15C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002110327] |
Chr10:77084734 [GRCh38] Chr10:78844492 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3342+17G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002110021] |
Chr10:76891508 [GRCh38] Chr10:78651266 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.348C>A (p.Thr116=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002073757] |
Chr10:77637295 [GRCh38] Chr10:79397053 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.541-14_541-12del |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002209695] |
Chr10:77251268..77251270 [GRCh38] Chr10:79011026..79011028 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3258C>T (p.Tyr1086=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002186623] |
Chr10:76891609 [GRCh38] Chr10:78651367 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.697-6C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002209028] |
Chr10:77183538 [GRCh38] Chr10:78943296 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2353C>T (p.Leu785=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002209089] |
Chr10:76969981 [GRCh38] Chr10:78729739 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.375G>A (p.Thr125=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002187972] |
Chr10:77637268 [GRCh38] Chr10:79397026 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2710-16T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002167137] |
Chr10:76944981 [GRCh38] Chr10:78704739 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.39C>T (p.Gly13=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002110982] |
Chr10:77637604 [GRCh38] Chr10:79397362 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.66T>A (p.Ser22Arg) |
single nucleotide variant |
not provided [RCV002211151] |
Chr10:77637577 [GRCh38] Chr10:79397335 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.31_45del (p.Ser11_Gly15del) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003089115]|not provided [RCV002211152]|not specified [RCV003324005] |
Chr10:77637598..77637612 [GRCh38] Chr10:79397356..79397370 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2662C>A (p.Arg888=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002188385] |
Chr10:76949189 [GRCh38] Chr10:78708947 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2710-19del |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002129773] |
Chr10:76944984 [GRCh38] Chr10:78704742 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.2015+18A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002111718] |
Chr10:77018995 [GRCh38] Chr10:78778753 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1594-20dup |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002108645] |
Chr10:77073271..77073272 [GRCh38] Chr10:78833029..78833030 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1928+16C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002112298] |
Chr10:77027807 [GRCh38] Chr10:78787565 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.696+17T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002186114] |
Chr10:77184806 [GRCh38] Chr10:78944564 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1132-10A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002185563] |
Chr10:77108582 [GRCh38] Chr10:78868340 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3186C>G (p.Thr1062=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002090350] |
Chr10:76891681 [GRCh38] Chr10:78651439 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1749+12T>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002108762] |
Chr10:77073085 [GRCh38] Chr10:78832843 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2688C>T (p.Phe896=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002205830] |
Chr10:76949163 [GRCh38] Chr10:78708921 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1928+11G>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002105855] |
Chr10:77027812 [GRCh38] Chr10:78787570 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1523+14C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002086114] |
Chr10:77084623 [GRCh38] Chr10:78844381 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.34del (p.Ser12fs) |
deletion |
not provided [RCV002224910] |
Chr10:77637609 [GRCh38] Chr10:79397367 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2312G>A (p.Arg771Gln) |
single nucleotide variant |
Liang-Wang syndrome [RCV002243590] |
Chr10:76970022 [GRCh38] Chr10:78729780 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1750-6C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002165953] |
Chr10:77039643 [GRCh38] Chr10:78799401 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1523+9T>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002209863] |
Chr10:77084628 [GRCh38] Chr10:78844386 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.153T>C (p.Ser51=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002091549] |
Chr10:77637490 [GRCh38] Chr10:79397248 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1311T>C (p.Asn437=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002089882] |
Chr10:77090423 [GRCh38] Chr10:78850181 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3138C>T (p.Leu1046=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002208308] |
Chr10:76909975 [GRCh38] Chr10:78669733 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2267-19G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002185588] |
Chr10:76970086 [GRCh38] Chr10:78729844 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.884+18A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002088767] |
Chr10:77120955 [GRCh38] Chr10:78880713 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.405A>G (p.Ser135=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002128866] |
Chr10:77403997 [GRCh38] Chr10:79163755 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3342+16C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002096161] |
Chr10:76891509 [GRCh38] Chr10:78651267 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1224-9C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002174958] |
Chr10:77090519 [GRCh38] Chr10:78850277 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2092+20C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002109150] |
Chr10:77011947 [GRCh38] Chr10:78771705 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.135CTCTTC[1] (p.Ser59_Ser60del) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002195029]|Inborn genetic diseases [RCV002561572] |
Chr10:77637497..77637502 [GRCh38] Chr10:79397255..79397260 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3087G>T (p.Thr1029=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002216173] |
Chr10:76910026 [GRCh38] Chr10:78669784 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.541-12C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002116494] |
Chr10:77251268 [GRCh38] Chr10:79011026 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1335-11T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002167254] |
Chr10:77086604 [GRCh38] Chr10:78846362 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2484+20T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002152512] |
Chr10:76953781 [GRCh38] Chr10:78713539 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2902+7A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002080947] |
Chr10:76944766 [GRCh38] Chr10:78704524 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2015+10T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002093126] |
Chr10:77019003 [GRCh38] Chr10:78778761 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3016+13G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002080568] |
Chr10:76914923 [GRCh38] Chr10:78674681 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.117C>T (p.Ser39=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002097229] |
Chr10:77637526 [GRCh38] Chr10:79397284 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1523+15G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002093504] |
Chr10:77084622 [GRCh38] Chr10:78844380 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.51C>T (p.Gly17=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002173938] |
Chr10:77637592 [GRCh38] Chr10:79397350 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2619G>A (p.Glu873=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002115083] |
Chr10:76949232 [GRCh38] Chr10:78708990 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3147+14T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002187512] |
Chr10:76909952 [GRCh38] Chr10:78669710 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1929-18T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002175069] |
Chr10:77019117 [GRCh38] Chr10:78778875 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2737A>C (p.Arg913=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002079931] |
Chr10:76944938 [GRCh38] Chr10:78704696 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1132-20T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002094155] |
Chr10:77108592 [GRCh38] Chr10:78868350 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.694C>A (p.Arg232=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002107432] |
Chr10:77184825 [GRCh38] Chr10:78944583 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2019A>G (p.Ala673=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002072392] |
Chr10:77012040 [GRCh38] Chr10:78771798 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1334+20G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002174688] |
Chr10:77090380 [GRCh38] Chr10:78850138 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1335-14C>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002151593] |
Chr10:77086607 [GRCh38] Chr10:78846365 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.603-19dup |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002124756] |
Chr10:77184934..77184935 [GRCh38] Chr10:78944692..78944693 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.379-17G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002104339] |
Chr10:77404040 [GRCh38] Chr10:79163798 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1593+18C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002168726] |
Chr10:77079463 [GRCh38] Chr10:78839221 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.603-15C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002151694] |
Chr10:77184931 [GRCh38] Chr10:78944689 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.15C>T (p.Gly5=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002149162] |
Chr10:77637628 [GRCh38] Chr10:79397386 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1593+7G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002085656] |
Chr10:77079474 [GRCh38] Chr10:78839232 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2902+8C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002087103] |
Chr10:76944765 [GRCh38] Chr10:78704523 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1750-15_1750-14del |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002111465] |
Chr10:77039651..77039652 [GRCh38] Chr10:78799409..78799410 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1524-19T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002149470] |
Chr10:77079569 [GRCh38] Chr10:78839327 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2903-5A>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002194975] |
Chr10:76915054 [GRCh38] Chr10:78674812 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1551G>A (p.Pro517=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002112988] |
Chr10:77079523 [GRCh38] Chr10:78839281 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1929-19_1929-16del |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002133422] |
Chr10:77019115..77019118 [GRCh38] Chr10:78778873..78778876 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1749+16A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002186812] |
Chr10:77073081 [GRCh38] Chr10:78832839 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3461+17A>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002097030] |
Chr10:76889434 [GRCh38] Chr10:78649192 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1660T>C (p.Leu554=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002207227] |
Chr10:77073186 [GRCh38] Chr10:78832944 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.696+15C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002194451] |
Chr10:77184808 [GRCh38] Chr10:78944566 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.651C>T (p.Ile217=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002116816] |
Chr10:77184868 [GRCh38] Chr10:78944626 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1928+8T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002195025] |
Chr10:77027815 [GRCh38] Chr10:78787573 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2267-10G>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002080484] |
Chr10:76970077 [GRCh38] Chr10:78729835 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3435C>G (p.Leu1145=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002188032] |
Chr10:76889477 [GRCh38] Chr10:78649235 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1593+19G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002117540] |
Chr10:77079462 [GRCh38] Chr10:78839220 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.379-114292C>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002227755] |
Chr10:77518315 [GRCh38] Chr10:79278073 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1523+19C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002202012] |
Chr10:77084618 [GRCh38] Chr10:78844376 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1860-20G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002121848] |
Chr10:77027911 [GRCh38] Chr10:78787669 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2898C>T (p.Ser966=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002199959] |
Chr10:76944777 [GRCh38] Chr10:78704535 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.884+14C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002098456] |
Chr10:77120959 [GRCh38] Chr10:78880717 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.696+13A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002201909] |
Chr10:77184810 [GRCh38] Chr10:78944568 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.379-12C>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002120161] |
Chr10:77404035 [GRCh38] Chr10:79163793 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1131+11del |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002082025] |
Chr10:77110162 [GRCh38] Chr10:78869920 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.2715G>A (p.Thr905=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002120989] |
Chr10:76944960 [GRCh38] Chr10:78704718 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.537C>T (p.Val179=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002100054] |
Chr10:77403865 [GRCh38] Chr10:79163623 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.666C>T (p.Asn222=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002098630] |
Chr10:77184853 [GRCh38] Chr10:78944611 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3297C>T (p.Arg1099=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002217838] |
Chr10:76891570 [GRCh38] Chr10:78651328 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1965A>G (p.Gln655=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002162754] |
Chr10:77019063 [GRCh38] Chr10:78778821 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.459C>T (p.Ala153=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002164524]|not provided [RCV003418403] |
Chr10:77403943 [GRCh38] Chr10:79163701 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1523+7C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002082805] |
Chr10:77084630 [GRCh38] Chr10:78844388 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3546C>T (p.Ala1182=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002099287] |
Chr10:76887431 [GRCh38] Chr10:78647189 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3426T>C (p.Asp1142=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002119103] |
Chr10:76889486 [GRCh38] Chr10:78649244 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1014C>T (p.Thr338=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002216411] |
Chr10:77110290 [GRCh38] Chr10:78870048 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1928+11G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002098130] |
Chr10:77027812 [GRCh38] Chr10:78787570 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3207G>A (p.Thr1069=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002182664]|not provided [RCV003418364] |
Chr10:76891660 [GRCh38] Chr10:78651418 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2016-15A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002154459] |
Chr10:77012058 [GRCh38] Chr10:78771816 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.900G>A (p.Leu300=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002140867] |
Chr10:77112427 [GRCh38] Chr10:78872185 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.312C>T (p.Ile104=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002135951] |
Chr10:77637331 [GRCh38] Chr10:79397089 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1458A>G (p.Ala486=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002203520] |
Chr10:77084702 [GRCh38] Chr10:78844460 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2799T>C (p.Ile933=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002083824] |
Chr10:76944876 [GRCh38] Chr10:78704634 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3343-17C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002139831] |
Chr10:76889586 [GRCh38] Chr10:78649344 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1842C>T (p.Ser614=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002120905] |
Chr10:77039545 [GRCh38] Chr10:78799303 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.690C>G (p.Gly230=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002143750] |
Chr10:77184829 [GRCh38] Chr10:78944587 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3147+10C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002138863]|not specified [RCV002240303] |
Chr10:76909956 [GRCh38] Chr10:78669714 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.1885C>T (p.Leu629=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002137086] |
Chr10:77027866 [GRCh38] Chr10:78787624 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1859+10C>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002161649] |
Chr10:77039518 [GRCh38] Chr10:78799276 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.809-11C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002153892] |
Chr10:77121059 [GRCh38] Chr10:78880817 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1827C>A (p.Ala609=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002139129] |
Chr10:77039560 [GRCh38] Chr10:78799318 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2360+11G>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002220825] |
Chr10:76969963 [GRCh38] Chr10:78729721 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1223+17G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002179423] |
Chr10:77108464 [GRCh38] Chr10:78868222 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3690C>T (p.Tyr1230=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002159653] |
Chr10:76887287 [GRCh38] Chr10:78647045 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2361-19C>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002198459] |
Chr10:76953943 [GRCh38] Chr10:78713701 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2485-6T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002176096] |
Chr10:76949372 [GRCh38] Chr10:78709130 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1224-13C>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002198412] |
Chr10:77090523 [GRCh38] Chr10:78850281 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.366G>A (p.Gly122=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002219478] |
Chr10:77637277 [GRCh38] Chr10:79397035 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.321C>T (p.Leu107=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002120487] |
Chr10:77637322 [GRCh38] Chr10:79397080 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2902+10G>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002141879] |
Chr10:76944763 [GRCh38] Chr10:78704521 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.808+11CT[2] |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002140253] |
Chr10:77183405..77183406 [GRCh38] Chr10:78943163..78943164 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.270C>T (p.Phe90=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002218112] |
Chr10:77637373 [GRCh38] Chr10:79397131 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1386G>A (p.Gln462=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002138902] |
Chr10:77086542 [GRCh38] Chr10:78846300 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2902+11C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002159245] |
Chr10:76944762 [GRCh38] Chr10:78704520 [GRCh37] Chr10:10q22.3 |
likely benign |
NC_000010.10:g.(?_79163600)_(79799964_?)dup |
duplication |
not provided [RCV003109606] |
Chr10:79163600..79799964 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1456G>A (p.Ala486Thr) |
single nucleotide variant |
not provided [RCV003109942] |
Chr10:77084704 [GRCh38] Chr10:78844462 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2326C>T (p.Arg776Trp) |
single nucleotide variant |
not provided [RCV003110030] |
Chr10:76970008 [GRCh38] Chr10:78729766 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NC_000010.10:g.(?_75671314)_(79799964_?)dup |
duplication |
Genitopatellar syndrome [RCV003116588] |
Chr10:75671314..79799964 [GRCh37] Chr10:10q22.2-22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.34_48del (p.Ser12_Gly16del) |
deletion |
not provided [RCV003156478] |
Chr10:77637595..77637609 [GRCh38] Chr10:79397353..79397367 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2484+33G>A |
single nucleotide variant |
not provided [RCV002244447] |
Chr10:76953768 [GRCh38] Chr10:78713526 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2594G>A (p.Arg865His) |
single nucleotide variant |
Liang-Wang syndrome [RCV002245508] |
Chr10:76949257 [GRCh38] Chr10:78709015 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2143G>A (p.Gly715Arg) |
single nucleotide variant |
See cases [RCV002252952] |
Chr10:77001530 [GRCh38] Chr10:78761288 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg) |
single nucleotide variant |
not provided [RCV003154335]|not specified [RCV003396928] |
Chr10:76889469 [GRCh38] Chr10:78649227 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1A>C (p.Met1Leu) |
single nucleotide variant |
not provided [RCV003318990] |
Chr10:77637642 [GRCh38] Chr10:79397400 [GRCh37] Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.2547C>A (p.Asp849Glu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002266687]|Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003120863] |
Chr10:76949304 [GRCh38] Chr10:78709062 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3295C>T (p.Arg1099Cys) |
single nucleotide variant |
See cases [RCV002287800] |
Chr10:76891572 [GRCh38] Chr10:78651330 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1224-326G>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002266635] |
Chr10:77090836 [GRCh38] Chr10:78850594 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2986G>T (p.Gly996Trp) |
single nucleotide variant |
not provided [RCV002273533] |
Chr10:76914966 [GRCh38] Chr10:78674724 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3625A>G (p.Ile1209Val) |
single nucleotide variant |
not provided [RCV002293952] |
Chr10:76887352 [GRCh38] Chr10:78647110 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3347G>C (p.Gly1116Ala) |
single nucleotide variant |
not provided [RCV002288071] |
Chr10:76889565 [GRCh38] Chr10:78649323 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.379-51304del |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002266690] |
Chr10:77455327 [GRCh38] Chr10:79215085 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.36CGG[5] (p.Gly19_Gly20del) |
microsatellite |
not provided [RCV003131321] |
Chr10:77637587..77637592 [GRCh38] Chr10:79397345..79397350 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1483T>C (p.Cys495Arg) |
single nucleotide variant |
not provided [RCV002469685] |
Chr10:77084677 [GRCh38] Chr10:78844435 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.897G>A (p.Lys299=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002726913] |
Chr10:77112430 [GRCh38] Chr10:78872188 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.694C>T (p.Arg232Trp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002296093] |
Chr10:77184825 [GRCh38] Chr10:78944583 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1343C>G (p.Pro448Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002300397] |
Chr10:77086585 [GRCh38] Chr10:78846343 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2485A>G (p.Thr829Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002295115] |
Chr10:76949366 [GRCh38] Chr10:78709124 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.27_37delinsTGGCGGCGGCGGCGGCGGCAGCA (p.Ser11_Gly13delinsGlyGlyGlyGlyGlySerSer) |
indel |
not provided [RCV002306014] |
Chr10:77637606..77637616 [GRCh38] Chr10:79397364..79397374 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2881G>A (p.Val961Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002298036] |
Chr10:76944794 [GRCh38] Chr10:78704552 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.349G>C (p.Val117Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002295099] |
Chr10:77637294 [GRCh38] Chr10:79397052 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2536A>G (p.Ile846Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002295835] |
Chr10:76949315 [GRCh38] Chr10:78709073 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1585C>T (p.His529Tyr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002301896] |
Chr10:77079489 [GRCh38] Chr10:78839247 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.452C>T (p.Ala151Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002301891] |
Chr10:77403950 [GRCh38] Chr10:79163708 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2951T>C (p.Val984Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002301965] |
Chr10:76915001 [GRCh38] Chr10:78674759 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2316T>A (p.Asn772Lys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002303272]|KCNMA1-related condition [RCV003403783] |
Chr10:76970018 [GRCh38] Chr10:78729776 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1752T>A (p.Ile584=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003013939] |
Chr10:77039635 [GRCh38] Chr10:78799393 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2977A>G (p.Ile993Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002617215] |
Chr10:76914975 [GRCh38] Chr10:78674733 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1593+9G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002994950] |
Chr10:77079472 [GRCh38] Chr10:78839230 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3498C>T (p.Leu1166=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002903043] |
Chr10:76887479 [GRCh38] Chr10:78647237 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2332T>A (p.Ser778Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002839353] |
Chr10:76970002 [GRCh38] Chr10:78729760 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3147+19T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002903185] |
Chr10:76909947 [GRCh38] Chr10:78669705 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.379-16C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003095323] |
Chr10:77404039 [GRCh38] Chr10:79163797 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3588G>T (p.Ser1196=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003016566] |
Chr10:76887389 [GRCh38] Chr10:78647147 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2485-11C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002681602] |
Chr10:76949377 [GRCh38] Chr10:78709135 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1315G>A (p.Glu439Lys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002839272] |
Chr10:77090419 [GRCh38] Chr10:78850177 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3467T>C (p.Val1156Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002820044] |
Chr10:76887510 [GRCh38] Chr10:78647268 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1A>G (p.Met1Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003076624] |
Chr10:77637642 [GRCh38] Chr10:79397400 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.644T>C (p.Leu215Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003016799] |
Chr10:77184875 [GRCh38] Chr10:78944633 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.718T>C (p.Leu240=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002618529] |
Chr10:77183511 [GRCh38] Chr10:78943269 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3590A>G (p.Gln1197Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002843725] |
Chr10:76887387 [GRCh38] Chr10:78647145 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2337C>T (p.Pro779=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002843726] |
Chr10:76969997 [GRCh38] Chr10:78729755 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1928+10_1928+11insT |
insertion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002842993] |
Chr10:77027812..77027813 [GRCh38] Chr10:78787570..78787571 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.463G>A (p.Glu155Lys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003015403]|not provided [RCV003418705] |
Chr10:77403939 [GRCh38] Chr10:79163697 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1335C>T (p.Asn445=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002863217] |
Chr10:77086593 [GRCh38] Chr10:78846351 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.28G>T (p.Gly10Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002840281] |
Chr10:77637615 [GRCh38] Chr10:79397373 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.319C>T (p.Leu107Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002818655] |
Chr10:77637324 [GRCh38] Chr10:79397082 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3343-15T>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002842422] |
Chr10:76889584 [GRCh38] Chr10:78649342 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001322830.2(KCNMA1):c.3620A>G (p.Lys1207Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002510648] |
Chr10:76877888 [GRCh38] Chr10:78637646 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1860G>C (p.Glu620Asp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002681236] |
Chr10:77027891 [GRCh38] Chr10:78787649 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3575C>T (p.Ser1192Phe) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002819148] |
Chr10:76887402 [GRCh38] Chr10:78647160 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.697-18A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003017409] |
Chr10:77183550 [GRCh38] Chr10:78943308 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.147_167dup (p.Ser60_Val61insSerSerSerSerSerSerSer) |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003016150] |
Chr10:77637475..77637476 [GRCh38] Chr10:79397233..79397234 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1134C>T (p.Ala378=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002947506] |
Chr10:77108570 [GRCh38] Chr10:78868328 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1928+9G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002842994] |
Chr10:77027814 [GRCh38] Chr10:78787572 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.602+17A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003081585] |
Chr10:77251178 [GRCh38] Chr10:79010936 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1161C>A (p.Ile387=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003018301] |
Chr10:77108543 [GRCh38] Chr10:78868301 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.688G>A (p.Gly230Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002695995] |
Chr10:77184831 [GRCh38] Chr10:78944589 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1512G>A (p.Ser504=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002663115] |
Chr10:77084648 [GRCh38] Chr10:78844406 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2559C>G (p.Ala853=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002571826] |
Chr10:76949292 [GRCh38] Chr10:78709050 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3192G>C (p.Val1064=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002914125] |
Chr10:76891675 [GRCh38] Chr10:78651433 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1131+20A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003081673] |
Chr10:77110153 [GRCh38] Chr10:78869911 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.468C>G (p.Val156=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002889888] |
Chr10:77403934 [GRCh38] Chr10:79163692 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1377T>C (p.His459=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003080262] |
Chr10:77086551 [GRCh38] Chr10:78846309 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1467C>A (p.Ile489=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002824629] |
Chr10:77084693 [GRCh38] Chr10:78844451 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.282C>T (p.Ser94=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002871429] |
Chr10:77637361 [GRCh38] Chr10:79397119 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2903-11C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002640322] |
Chr10:76915060 [GRCh38] Chr10:78674818 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1897A>G (p.Ile633Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002640186] |
Chr10:77027854 [GRCh38] Chr10:78787612 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.24_56del (p.Gly10_Gly20del) |
deletion |
Inborn genetic diseases [RCV002844165]|not provided [RCV003420443] |
Chr10:77637587..77637619 [GRCh38] Chr10:79397345..79397377 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3634A>G (p.Thr1212Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002591895]|Inborn genetic diseases [RCV003250783] |
Chr10:76887343 [GRCh38] Chr10:78647101 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1750-12C>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003020648] |
Chr10:77039649 [GRCh38] Chr10:78799407 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1213A>T (p.Ser405Cys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002820886] |
Chr10:77108491 [GRCh38] Chr10:78868249 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2583G>A (p.Val861=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002912514] |
Chr10:76949268 [GRCh38] Chr10:78709026 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3147+20C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002690564] |
Chr10:76909946 [GRCh38] Chr10:78669704 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1044C>T (p.Val348=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002761419] |
Chr10:77110260 [GRCh38] Chr10:78870018 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.378+12_378+13delinsAA |
indel |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002866304] |
Chr10:77637252..77637253 [GRCh38] Chr10:79397010..79397011 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.961-17T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002824890] |
Chr10:77110360 [GRCh38] Chr10:78870118 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.156CTC[4] (p.Ser60_Val61insSer) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002761110] |
Chr10:77637478..77637479 [GRCh38] Chr10:79397236..79397237 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1594G>A (p.Ala532Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002797114] |
Chr10:77073252 [GRCh38] Chr10:78833010 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3633C>T (p.Ser1211=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003020855] |
Chr10:76887344 [GRCh38] Chr10:78647102 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.88C>T (p.His30Tyr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002781507] |
Chr10:77637555 [GRCh38] Chr10:79397313 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1806C>T (p.Tyr602=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002846421] |
Chr10:77039581 [GRCh38] Chr10:78799339 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2480T>C (p.Ile827Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002913679] |
Chr10:76953805 [GRCh38] Chr10:78713563 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.761C>T (p.Thr254Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002913134] |
Chr10:77183468 [GRCh38] Chr10:78943226 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1524-20A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003021645] |
Chr10:77079570 [GRCh38] Chr10:78839328 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1334+16T>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002976060] |
Chr10:77090384 [GRCh38] Chr10:78850142 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2710-8_2710-7inv |
inversion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002637985] |
Chr10:76944972..76944973 [GRCh38] Chr10:78704730..78704731 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3345T>C (p.Asp1115=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002889154] |
Chr10:76889567 [GRCh38] Chr10:78649325 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3290G>A (p.Arg1097His) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003018291] |
Chr10:76891577 [GRCh38] Chr10:78651335 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1441-9G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002622229] |
Chr10:77084728 [GRCh38] Chr10:78844486 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.31_57del (p.Ser11_Gly19del) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003038432] |
Chr10:77637586..77637612 [GRCh38] Chr10:79397344..79397370 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.735A>G (p.Glu245=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002796685] |
Chr10:77183494 [GRCh38] Chr10:78943252 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2476G>C (p.Val826Leu) |
single nucleotide variant |
not provided [RCV002508406] |
Chr10:76953809 [GRCh38] Chr10:78713567 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1830C>T (p.Phe610=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002957924] |
Chr10:77039557 [GRCh38] Chr10:78799315 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2408A>G (p.Asp803Gly) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002663482] |
Chr10:76953877 [GRCh38] Chr10:78713635 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2629A>G (p.Ile877Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003026101] |
Chr10:76949222 [GRCh38] Chr10:78708980 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.336G>A (p.Lys112=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002791542] |
Chr10:77637307 [GRCh38] Chr10:79397065 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2373G>A (p.Leu791=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002852836] |
Chr10:76953912 [GRCh38] Chr10:78713670 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2383G>C (p.Gly795Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002875276] |
Chr10:76953902 [GRCh38] Chr10:78713660 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.144_170dup (p.Ser60_Val61insSerSerSerSerSerSerSerSerSer) |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003059741] |
Chr10:77637472..77637473 [GRCh38] Chr10:79397230..79397231 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1260T>C (p.Ser420=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002667406] |
Chr10:77090474 [GRCh38] Chr10:78850232 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1334+19T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003039914] |
Chr10:77090381 [GRCh38] Chr10:78850139 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1335-3T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002803923] |
Chr10:77086596 [GRCh38] Chr10:78846354 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.228G>A (p.Glu76=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002574455] |
Chr10:77637415 [GRCh38] Chr10:79397173 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3462-9C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003040519] |
Chr10:76887524 [GRCh38] Chr10:78647282 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.55_63dup (p.Ser21_Ser22insGlyGlySer) |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002890865] |
Chr10:77637579..77637580 [GRCh38] Chr10:79397337..79397338 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3017-9T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002851775] |
Chr10:76910105 [GRCh38] Chr10:78669863 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3156C>T (p.Phe1052=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002828091] |
Chr10:76891711 [GRCh38] Chr10:78651469 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3017T>C (p.Val1006Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003057337] |
Chr10:76910096 [GRCh38] Chr10:78669854 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3623C>A (p.Ser1208Tyr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002917752] |
Chr10:76887354 [GRCh38] Chr10:78647112 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.243C>T (p.Ser81=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003023671] |
Chr10:77637400 [GRCh38] Chr10:79397158 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.507G>T (p.Met169Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002928544] |
Chr10:77403895 [GRCh38] Chr10:79163653 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.28G>A (p.Gly10Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002918026] |
Chr10:77637615 [GRCh38] Chr10:79397373 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3440C>A (p.Thr1147Asn) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002642524] |
Chr10:76889472 [GRCh38] Chr10:78649230 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3123T>C (p.Ser1041=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002805667] |
Chr10:76909990 [GRCh38] Chr10:78669748 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3480G>T (p.Pro1160=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002576188] |
Chr10:76887497 [GRCh38] Chr10:78647255 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1089A>C (p.Thr363=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002894376] |
Chr10:77110215 [GRCh38] Chr10:78869973 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.424C>T (p.Leu142Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002850055] |
Chr10:77403978 [GRCh38] Chr10:79163736 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2556A>G (p.Ser852=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003056564] |
Chr10:76949295 [GRCh38] Chr10:78709053 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1925G>A (p.Ser642Asn) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002917673] |
Chr10:77027826 [GRCh38] Chr10:78787584 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.384C>T (p.Ala128=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003024956] |
Chr10:77404018 [GRCh38] Chr10:79163776 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1523+20G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003007338] |
Chr10:77084617 [GRCh38] Chr10:78844375 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2820C>T (p.Asp940=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002664137] |
Chr10:76944855 [GRCh38] Chr10:78704613 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2305A>G (p.Lys769Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002717884] |
Chr10:76970029 [GRCh38] Chr10:78729787 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.885-16G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002581821] |
Chr10:77112458 [GRCh38] Chr10:78872216 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1441-7G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003031864] |
Chr10:77084726 [GRCh38] Chr10:78844484 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3693G>T (p.Val1231=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003046552] |
Chr10:76887284 [GRCh38] Chr10:78647042 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3181C>T (p.Arg1061Trp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002647191] |
Chr10:76891686 [GRCh38] Chr10:78651444 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3302C>T (p.Ala1101Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002900189] |
Chr10:76891565 [GRCh38] Chr10:78651323 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1440+16T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002675805] |
Chr10:77086472 [GRCh38] Chr10:78846230 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.589A>G (p.Ile197Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002581981] |
Chr10:77251208 [GRCh38] Chr10:79010966 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1586A>G (p.His529Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002806457] |
Chr10:77079488 [GRCh38] Chr10:78839246 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.466G>A (p.Val156Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003047151] |
Chr10:77403936 [GRCh38] Chr10:79163694 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3587C>T (p.Ser1196Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002632515] |
Chr10:76887390 [GRCh38] Chr10:78647148 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.233C>T (p.Pro78Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003031510] |
Chr10:77637410 [GRCh38] Chr10:79397168 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3630A>G (p.Pro1210=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002721040] |
Chr10:76887347 [GRCh38] Chr10:78647105 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1266C>T (p.Ser422=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002770654] |
Chr10:77090468 [GRCh38] Chr10:78850226 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.484G>A (p.Val162Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002670886] |
Chr10:77403918 [GRCh38] Chr10:79163676 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1344C>T (p.Pro448=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003089625] |
Chr10:77086584 [GRCh38] Chr10:78846342 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1373G>A (p.Arg458Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002747230] |
Chr10:77086555 [GRCh38] Chr10:78846313 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1860-20G>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002599343] |
Chr10:77027911 [GRCh38] Chr10:78787669 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3054TGA[4] (p.Asp1021_Pro1022insAsp) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002833210] |
Chr10:76910050..76910051 [GRCh38] Chr10:78669808..78669809 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.891C>T (p.Ser297=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002856959] |
Chr10:77112436 [GRCh38] Chr10:78872194 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.378+8G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002649309] |
Chr10:77637257 [GRCh38] Chr10:79397015 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.396C>A (p.Asn132Lys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002671234] |
Chr10:77404006 [GRCh38] Chr10:79163764 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2550C>T (p.Val850=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003008415] |
Chr10:76949301 [GRCh38] Chr10:78709059 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3148-17T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002810377] |
Chr10:76891736 [GRCh38] Chr10:78651494 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1817T>C (p.Leu606Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002809927] |
Chr10:77039570 [GRCh38] Chr10:78799328 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.972A>G (p.Ser324=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003010244] |
Chr10:77110332 [GRCh38] Chr10:78870090 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.104G>A (p.Ser35Asn) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003044382] |
Chr10:77637539 [GRCh38] Chr10:79397297 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3608G>T (p.Ser1203Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003043902] |
Chr10:76887369 [GRCh38] Chr10:78647127 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3241G>A (p.Ala1081Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003087820]|not provided [RCV003456545] |
Chr10:76891626 [GRCh38] Chr10:78651384 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1962C>T (p.Ile654=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003048209] |
Chr10:77019066 [GRCh38] Chr10:78778824 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3651C>G (p.Asn1217Lys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002720071] |
Chr10:76887326 [GRCh38] Chr10:78647084 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.412G>A (p.Ala138Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002646809] |
Chr10:77403990 [GRCh38] Chr10:79163748 [GRCh37] Chr10:10q22.3 |
benign |
NM_001161352.2(KCNMA1):c.1860-12A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003062456] |
Chr10:77027903 [GRCh38] Chr10:78787661 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.44G>A (p.Gly15Asp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003060733] |
Chr10:77637599 [GRCh38] Chr10:79397357 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1149C>T (p.Tyr383=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002938566] |
Chr10:77108555 [GRCh38] Chr10:78868313 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.46G>A (p.Gly16Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002938214] |
Chr10:77637597 [GRCh38] Chr10:79397355 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3016+10A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002770743] |
Chr10:76914926 [GRCh38] Chr10:78674684 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.135CTCTTC[3] (p.Ser60_Val61insSerSer) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002601839] |
Chr10:77637496..77637497 [GRCh38] Chr10:79397254..79397255 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3141G>A (p.Met1047Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002833323] |
Chr10:76909972 [GRCh38] Chr10:78669730 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1408G>A (p.Val470Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003092630] |
Chr10:77086520 [GRCh38] Chr10:78846278 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1795A>G (p.Asn599Asp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002680723] |
Chr10:77039592 [GRCh38] Chr10:78799350 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2856T>C (p.Ser952=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002725984] |
Chr10:76944819 [GRCh38] Chr10:78704577 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2710-17T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002653972] |
Chr10:76944982 [GRCh38] Chr10:78704740 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3017-19T>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003051039] |
Chr10:76910115 [GRCh38] Chr10:78669873 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.541-13T>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002725750] |
Chr10:77251269 [GRCh38] Chr10:79011027 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2948C>G (p.Pro983Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002658008] |
Chr10:76915004 [GRCh38] Chr10:78674762 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2267-10G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003068131] |
Chr10:76970077 [GRCh38] Chr10:78729835 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2956G>A (p.Gly986Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002605758] |
Chr10:76914996 [GRCh38] Chr10:78674754 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.540+16C>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003069482] |
Chr10:77403846 [GRCh38] Chr10:79163604 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.125C>T (p.Ser42Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002722751] |
Chr10:77637518 [GRCh38] Chr10:79397276 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2751C>T (p.Ile917=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002653252] |
Chr10:76944924 [GRCh38] Chr10:78704682 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3139A>G (p.Met1047Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003049481] |
Chr10:76909974 [GRCh38] Chr10:78669732 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3342+11A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002681080] |
Chr10:76891514 [GRCh38] Chr10:78651272 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1650C>T (p.Cys550=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002654735] |
Chr10:77073196 [GRCh38] Chr10:78832954 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.809-4C>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002725485] |
Chr10:77121052 [GRCh38] Chr10:78880810 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1088C>T (p.Thr363Ile) |
single nucleotide variant |
not provided [RCV003129549] |
Chr10:77110216 [GRCh38] Chr10:78869974 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.186C>G (p.His62Gln) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003072587] |
Chr10:77637457 [GRCh38] Chr10:79397215 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3148-10C>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002608388] |
Chr10:76891729 [GRCh38] Chr10:78651487 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.52_60dup (p.Gly20_Ser21insGlyGlyGly) |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002586901] |
Chr10:77637582..77637583 [GRCh38] Chr10:79397340..79397341 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2709+17A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003066553] |
Chr10:76949125 [GRCh38] Chr10:78708883 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.31_45dup (p.Gly15_Gly16insSerSerGlyGlyGly) |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002605910]|not provided [RCV003130846] |
Chr10:77637597..77637598 [GRCh38] Chr10:79397355..79397356 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.428A>C (p.Lys143Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002608999] |
Chr10:77403974 [GRCh38] Chr10:79163732 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2509G>A (p.Val837Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003050812] |
Chr10:76949342 [GRCh38] Chr10:78709100 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1461C>T (p.Cys487=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002612799] |
Chr10:77084699 [GRCh38] Chr10:78844457 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.204G>T (p.Ala68=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002611590] |
Chr10:77637439 [GRCh38] Chr10:79397197 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2681A>T (p.His894Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003051776] |
Chr10:76949170 [GRCh38] Chr10:78708928 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.54C>G (p.Gly18=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003072652] |
Chr10:77637589 [GRCh38] Chr10:79397347 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2902+18T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV002612775] |
Chr10:76944755 [GRCh38] Chr10:78704513 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2339A>G (p.Asn780Ser) |
single nucleotide variant |
not provided [RCV003131319] |
Chr10:76969995 [GRCh38] Chr10:78729753 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.358C>T (p.His120Tyr) |
single nucleotide variant |
not provided [RCV003131318] |
Chr10:77637285 [GRCh38] Chr10:79397043 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3147+8A>G |
single nucleotide variant |
not provided [RCV003131320] |
Chr10:76909958 [GRCh38] Chr10:78669716 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2837C>T (p.Ala946Val) |
single nucleotide variant |
not provided [RCV003142592] |
Chr10:76944838 [GRCh38] Chr10:78704596 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2651A>T (p.Glu884Val) |
single nucleotide variant |
not provided [RCV003222673] |
Chr10:76949200 [GRCh38] Chr10:78708958 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2484+1746C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003224695] |
Chr10:76952055 [GRCh38] Chr10:78711813 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3569C>G (p.Ser1190Cys) |
single nucleotide variant |
not provided [RCV003218920] |
Chr10:76887408 [GRCh38] Chr10:78647166 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3425A>G (p.Asp1142Gly) |
single nucleotide variant |
not provided [RCV003228246] |
Chr10:76889487 [GRCh38] Chr10:78649245 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.476T>A (p.Met159Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003219732] |
Chr10:77403926 [GRCh38] Chr10:79163684 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1595C>T (p.Ala532Val) |
single nucleotide variant |
not provided [RCV003133802] |
Chr10:77073251 [GRCh38] Chr10:78833009 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.412G>C (p.Ala138Pro) |
single nucleotide variant |
not provided [RCV003323231] |
Chr10:77403990 [GRCh38] Chr10:79163748 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1441-10G>A |
single nucleotide variant |
not provided [RCV003319056] |
Chr10:77084729 [GRCh38] Chr10:78844487 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3280A>G (p.Asn1094Asp) |
single nucleotide variant |
not provided [RCV003319701] |
Chr10:76891587 [GRCh38] Chr10:78651345 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1079C>T (p.Ala360Val) |
single nucleotide variant |
not provided [RCV003319848] |
Chr10:77110225 [GRCh38] Chr10:78869983 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.858G>T (p.Leu286Phe) |
single nucleotide variant |
not provided [RCV003319129] |
Chr10:77120999 [GRCh38] Chr10:78880757 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1385A>T (p.Gln462Leu) |
single nucleotide variant |
not provided [RCV003327783] |
Chr10:77086543 [GRCh38] Chr10:78846301 [GRCh37] Chr10:10q22.3 |
uncertain significance |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) |
copy number loss |
Distal 10q deletion syndrome [RCV003319583] |
Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) |
copy number gain |
Distal trisomy 10q [RCV003319593] |
Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.1751T>C (p.Ile584Thr) |
single nucleotide variant |
not provided [RCV003329986] |
Chr10:77039636 [GRCh38] Chr10:78799394 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1498G>A (p.Ala500Thr) |
single nucleotide variant |
not provided [RCV003329651] |
Chr10:77084662 [GRCh38] Chr10:78844420 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001014797.3(KCNMA1):c.3525-6C>A |
single nucleotide variant |
not provided [RCV003326793] |
Chr10:76877899 [GRCh38] Chr10:78637657 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.112G>T (p.Ala38Ser) |
single nucleotide variant |
not provided [RCV003329947] |
Chr10:77637531 [GRCh38] Chr10:79397289 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2146C>T (p.Arg716Cys) |
single nucleotide variant |
not provided [RCV003326794] |
Chr10:77001527 [GRCh38] Chr10:78761285 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3353G>T (p.Cys1118Phe) |
single nucleotide variant |
not provided [RCV003332682] |
Chr10:76889559 [GRCh38] Chr10:78649317 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.726C>T (p.Phe242=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622902] |
Chr10:77183503 [GRCh38] Chr10:78943261 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3585G>A (p.Ser1195=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623457] |
Chr10:76887392 [GRCh38] Chr10:78647150 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2475A>T (p.Lys825Asn) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622973] |
Chr10:76953810 [GRCh38] Chr10:78713568 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2553C>T (p.Ser851=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622975] |
Chr10:76949298 [GRCh38] Chr10:78709056 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2933C>T (p.Ser978Phe) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622939] |
Chr10:76915019 [GRCh38] Chr10:78674777 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3342+20G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622966] |
Chr10:76891505 [GRCh38] Chr10:78651263 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.741C>T (p.Asn247=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623664] |
Chr10:77183488 [GRCh38] Chr10:78943246 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1860-3C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622895] |
Chr10:77027894 [GRCh38] Chr10:78787652 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.466G>C (p.Val156Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623128] |
Chr10:77403936 [GRCh38] Chr10:79163694 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.436G>A (p.Asp146Asn) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623084] |
Chr10:77403966 [GRCh38] Chr10:79163724 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1744A>G (p.Ile582Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623142] |
Chr10:77073102 [GRCh38] Chr10:78832860 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1077T>C (p.Tyr359=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623374] |
Chr10:77110227 [GRCh38] Chr10:78869985 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.474G>C (p.Trp158Cys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623048] |
Chr10:77403928 [GRCh38] Chr10:79163686 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3492T>C (p.Phe1164=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623111] |
Chr10:76887485 [GRCh38] Chr10:78647243 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1335-6G>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623221] |
Chr10:77086599 [GRCh38] Chr10:78846357 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3541A>G (p.Asn1181Asp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623471] |
Chr10:76887436 [GRCh38] Chr10:78647194 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3086C>T (p.Thr1029Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623473] |
Chr10:76910027 [GRCh38] Chr10:78669785 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1596C>G (p.Ala532=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623618] |
Chr10:77073250 [GRCh38] Chr10:78833008 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.884+13T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623631] |
Chr10:77120960 [GRCh38] Chr10:78880718 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2988G>A (p.Gly996=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623642] |
Chr10:76914964 [GRCh38] Chr10:78674722 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1749+2T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623493] |
Chr10:77073095 [GRCh38] Chr10:78832853 [GRCh37] Chr10:10q22.3 |
likely pathogenic |
NM_001161352.2(KCNMA1):c.13GGC[9] (p.Gly10_Ser11insGlyGlyGly) |
microsatellite |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003875717] |
Chr10:77637612..77637613 [GRCh38] Chr10:79397370..79397371 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2034G>A (p.Lys678=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623271] |
Chr10:77012025 [GRCh38] Chr10:78771783 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.176C>T (p.Ser59Phe) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623854] |
Chr10:77637467 [GRCh38] Chr10:79397225 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.12_17dup (p.Gly10_Ser11insGlyGly) |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623885] |
Chr10:77637625..77637626 [GRCh38] Chr10:79397383..79397384 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2353C>G (p.Leu785Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623434] |
Chr10:76969981 [GRCh38] Chr10:78729739 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1515T>A (p.Asn505Lys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623469] |
Chr10:77084645 [GRCh38] Chr10:78844403 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2326C>A (p.Arg776=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623530] |
Chr10:76970008 [GRCh38] Chr10:78729766 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3549C>T (p.Gly1183=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623566] |
Chr10:76887428 [GRCh38] Chr10:78647186 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.186C>T (p.His62=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623533] |
Chr10:77637457 [GRCh38] Chr10:79397215 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1208C>T (p.Ala403Val) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623598] |
Chr10:77108496 [GRCh38] Chr10:78868254 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2902+19A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623752] |
Chr10:76944754 [GRCh38] Chr10:78704512 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2360+13G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623853] |
Chr10:76969961 [GRCh38] Chr10:78729719 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1245C>T (p.His415=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623835] |
Chr10:77090489 [GRCh38] Chr10:78850247 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2289A>G (p.Thr763=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623794] |
Chr10:76970045 [GRCh38] Chr10:78729803 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.27_56dup (p.Ser22_Leu23insGlyGlyGlyGlyGlyGlyGlyGlySerSer) |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623862] |
Chr10:77637586..77637587 [GRCh38] Chr10:79397344..79397345 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2481C>A (p.Ile827=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622481] |
Chr10:76953804 [GRCh38] Chr10:78713562 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1612C>G (p.Pro538Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622554] |
Chr10:77073234 [GRCh38] Chr10:78832992 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.320T>A (p.Leu107His) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622599] |
Chr10:77637323 [GRCh38] Chr10:79397081 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2460C>A (p.Pro820=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622663] |
Chr10:76953825 [GRCh38] Chr10:78713583 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3013C>T (p.Leu1005=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622501] |
Chr10:76914939 [GRCh38] Chr10:78674697 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3136C>T (p.Leu1046Phe) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622751] |
Chr10:76909977 [GRCh38] Chr10:78669735 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2053A>T (p.Thr685Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622806] |
Chr10:77012006 [GRCh38] Chr10:78771764 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2302A>G (p.Lys768Glu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003874557] |
Chr10:76970032 [GRCh38] Chr10:78729790 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.432A>C (p.Pro144=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622864] |
Chr10:77403970 [GRCh38] Chr10:79163728 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3147+13G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622636] |
Chr10:76909953 [GRCh38] Chr10:78669711 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2710-14C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622741] |
Chr10:76944979 [GRCh38] Chr10:78704737 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2903-4C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622943] |
Chr10:76915053 [GRCh38] Chr10:78674811 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1713G>A (p.Met571Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623085] |
Chr10:77073133 [GRCh38] Chr10:78832891 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1441-6T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622500] |
Chr10:77084725 [GRCh38] Chr10:78844483 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2361-8C>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622711] |
Chr10:76953932 [GRCh38] Chr10:78713690 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2926A>G (p.Arg976Gly) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623132] |
Chr10:76915026 [GRCh38] Chr10:78674784 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2092+10G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622601] |
Chr10:77011957 [GRCh38] Chr10:78771715 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.602+12634G>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622810] |
Chr10:77238561 [GRCh38] Chr10:78998319 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2423A>C (p.Lys808Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622954] |
Chr10:76953862 [GRCh38] Chr10:78713620 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2795A>G (p.Asn932Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623364] |
Chr10:76944880 [GRCh38] Chr10:78704638 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.809-5dup |
duplication |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623579] |
Chr10:77121052..77121053 [GRCh38] Chr10:78880810..78880811 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1339T>C (p.Ser447Pro) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622764] |
Chr10:77086589 [GRCh38] Chr10:78846347 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2786A>G (p.Asn929Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623027] |
Chr10:76944889 [GRCh38] Chr10:78704647 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1609A>C (p.Ile537Leu) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623167] |
Chr10:77073237 [GRCh38] Chr10:78832995 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2267-8A>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003623229] |
Chr10:76970075 [GRCh38] Chr10:78729833 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1989C>G (p.Ile663Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622408] |
Chr10:77019039 [GRCh38] Chr10:78778797 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2396T>C (p.Ile799Thr) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622445] |
Chr10:76953889 [GRCh38] Chr10:78713647 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.885-20G>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622459] |
Chr10:77112462 [GRCh38] Chr10:78872220 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1653C>G (p.Leu551=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003622379] |
Chr10:77073193 [GRCh38] Chr10:78832951 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2327G>T (p.Arg776Leu) |
single nucleotide variant |
not specified [RCV003479908] |
Chr10:76970007 [GRCh38] Chr10:78729765 [GRCh37] Chr10:10q22.3 |
uncertain significance |
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 |
copy number gain |
not provided [RCV003484798] |
Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2 |
pathogenic |
NM_001161352.2(KCNMA1):c.771del (p.Val258fs) |
deletion |
KCNMA1-related condition [RCV003400208] |
Chr10:77183458 [GRCh38] Chr10:78943216 [GRCh37] Chr10:10q22.3 |
likely pathogenic |
NM_001161352.2(KCNMA1):c.1224-14C>T |
single nucleotide variant |
not specified [RCV003479794] |
Chr10:77090524 [GRCh38] Chr10:78850282 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2837del (p.Ala946fs) |
deletion |
KCNMA1-related condition [RCV003399787] |
Chr10:76944838 [GRCh38] Chr10:78704596 [GRCh37] Chr10:10q22.3 |
likely pathogenic |
NM_001161352.2(KCNMA1):c.3514A>G (p.Ile1172Val) |
single nucleotide variant |
not provided [RCV003441360] |
Chr10:76887463 [GRCh38] Chr10:78647221 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3146_3147del (p.Ala1049fs) |
microsatellite |
KCNMA1-related condition [RCV003397513] |
Chr10:76909966..76909967 [GRCh38] Chr10:78669724..78669725 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2974T>G (p.Ser992Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003448742] |
Chr10:76914978 [GRCh38] Chr10:78674736 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2662C>T (p.Arg888Trp) |
single nucleotide variant |
not provided [RCV003443402] |
Chr10:76949189 [GRCh38] Chr10:78708947 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1546C>G (p.His516Asp) |
single nucleotide variant |
Epilepsy, idiopathic generalized, susceptibility to, 16 [RCV003388264] |
Chr10:77079528 [GRCh38] Chr10:78839286 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.4G>C (p.Ala2Pro) |
single nucleotide variant |
KCNMA1-related condition [RCV003410461] |
Chr10:77637639 [GRCh38] Chr10:79397397 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.378+766C>A |
single nucleotide variant |
KCNMA1-related condition [RCV003397760] |
Chr10:77636499 [GRCh38] Chr10:79396257 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.378+286G>A |
single nucleotide variant |
KCNMA1-related condition [RCV003410476] |
Chr10:77636979 [GRCh38] Chr10:79396737 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2323A>C (p.Met775Leu) |
single nucleotide variant |
KCNMA1-related condition [RCV003402291] |
Chr10:76970011 [GRCh38] Chr10:78729769 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3579C>T (p.Ser1193=) |
single nucleotide variant |
not provided [RCV003417526] |
Chr10:76887398 [GRCh38] Chr10:78647156 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3334G>A (p.Asp1112Asn) |
single nucleotide variant |
not provided [RCV003417527] |
Chr10:76891533 [GRCh38] Chr10:78651291 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2647A>G (p.Ile883Val) |
single nucleotide variant |
not provided [RCV003417528] |
Chr10:76949204 [GRCh38] Chr10:78708962 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2484+1764G>A |
single nucleotide variant |
not provided [RCV003417529] |
Chr10:76952037 [GRCh38] Chr10:78711795 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2484+1659G>A |
single nucleotide variant |
not provided [RCV003417530] |
Chr10:76952142 [GRCh38] Chr10:78711900 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.541-5T>C |
single nucleotide variant |
not provided [RCV003417531] |
Chr10:77251261 [GRCh38] Chr10:79011019 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.379-89848G>A |
single nucleotide variant |
not provided [RCV003417532] |
Chr10:77493871 [GRCh38] Chr10:79253629 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.378+878del |
deletion |
not provided [RCV003417533] |
Chr10:77636387 [GRCh38] Chr10:79396145 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.378+767C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003455816]|not provided [RCV003417534] |
Chr10:77636498 [GRCh38] Chr10:79396256 [GRCh37] Chr10:10q22.3 |
likely benign|uncertain significance |
NM_001161352.2(KCNMA1):c.3016+879G>T |
single nucleotide variant |
KCNMA1-related condition [RCV003391260] |
Chr10:76914057 [GRCh38] Chr10:78673815 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.541G>A (p.Val181Ile) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510286] |
Chr10:77251256 [GRCh38] Chr10:79011014 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.584A>C (p.Tyr195Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510322] |
Chr10:77251213 [GRCh38] Chr10:79010971 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3016+18C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510330] |
Chr10:76914918 [GRCh38] Chr10:78674676 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.87C>G (p.Ile29Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510375] |
Chr10:77637556 [GRCh38] Chr10:79397314 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2485-19C>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003878153] |
Chr10:76949385 [GRCh38] Chr10:78709143 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.733G>C (p.Glu245Gln) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510535] |
Chr10:77183496 [GRCh38] Chr10:78943254 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2523T>C (p.His841=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509120] |
Chr10:76949328 [GRCh38] Chr10:78709086 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1593+11G>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003878402] |
Chr10:77079470 [GRCh38] Chr10:78839228 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3016+16_3016+17inv |
inversion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509249] |
Chr10:76914919..76914920 [GRCh38] Chr10:78674677..78674678 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2092+11T>A |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509315] |
Chr10:77011956 [GRCh38] Chr10:78771714 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3054T>C (p.Asp1018=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509151] |
Chr10:76910059 [GRCh38] Chr10:78669817 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3192G>A (p.Val1064=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509348] |
Chr10:76891675 [GRCh38] Chr10:78651433 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1600C>T (p.Leu534=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509364] |
Chr10:77073246 [GRCh38] Chr10:78833004 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3598A>T (p.Ser1200Cys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510813] |
Chr10:76887379 [GRCh38] Chr10:78647137 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2267-14G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510847] |
Chr10:76970081 [GRCh38] Chr10:78729839 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1049T>G (p.Met350Arg) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510316] |
Chr10:77110255 [GRCh38] Chr10:78870013 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1848T>C (p.Pro616=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510925] |
Chr10:77039539 [GRCh38] Chr10:78799297 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1449A>G (p.Ser483=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510372] |
Chr10:77084711 [GRCh38] Chr10:78844469 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2710-12T>G |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510395] |
Chr10:76944977 [GRCh38] Chr10:78704735 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2689C>T (p.Pro897Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510464] |
Chr10:76949162 [GRCh38] Chr10:78708920 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.2487T>G (p.Thr829=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509470] |
Chr10:76949364 [GRCh38] Chr10:78709122 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1512G>C (p.Ser504=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510305] |
Chr10:77084648 [GRCh38] Chr10:78844406 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3285G>C (p.Arg1095Ser) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510319] |
Chr10:76891582 [GRCh38] Chr10:78651340 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3168C>G (p.Ile1056Met) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510325] |
Chr10:76891699 [GRCh38] Chr10:78651457 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.765G>C (p.Val255=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510507] |
Chr10:77183464 [GRCh38] Chr10:78943222 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1869del (p.Phe623fs) |
deletion |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510614] |
Chr10:77027882 [GRCh38] Chr10:78787640 [GRCh37] Chr10:10q22.3 |
pathogenic |
NM_001161352.2(KCNMA1):c.543T>C (p.Val181=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510743] |
Chr10:77251254 [GRCh38] Chr10:79011012 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2902+11C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509318] |
Chr10:76944762 [GRCh38] Chr10:78704520 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.831G>C (p.Leu277=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510157] |
Chr10:77121026 [GRCh38] Chr10:78880784 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1112T>G (p.Phe371Cys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510818] |
Chr10:77110192 [GRCh38] Chr10:78869950 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.1904A>G (p.Tyr635Cys) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003877662] |
Chr10:77027847 [GRCh38] Chr10:78787605 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3066T>C (p.Pro1022=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509337] |
Chr10:76910047 [GRCh38] Chr10:78669805 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.744T>C (p.Ser248=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510873] |
Chr10:77183485 [GRCh38] Chr10:78943243 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2649T>C (p.Ile883=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510349] |
Chr10:76949202 [GRCh38] Chr10:78708960 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.278C>T (p.Ser93Phe) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510364] |
Chr10:77637365 [GRCh38] Chr10:79397123 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3016+2T>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510556] |
Chr10:76914934 [GRCh38] Chr10:78674692 [GRCh37] Chr10:10q22.3 |
likely pathogenic |
NM_001161352.2(KCNMA1):c.1593+19G>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510596] |
Chr10:77079462 [GRCh38] Chr10:78839220 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.768C>T (p.Pro256=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003877049] |
Chr10:77183461 [GRCh38] Chr10:78943219 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.786G>A (p.Val262=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003511006] |
Chr10:77183443 [GRCh38] Chr10:78943201 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1523+12G>C |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003511010] |
Chr10:77084625 [GRCh38] Chr10:78844383 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3342+8C>T |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003511083] |
Chr10:76891517 [GRCh38] Chr10:78651275 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.105C>T (p.Ser35=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003511089] |
Chr10:77637538 [GRCh38] Chr10:79397296 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.455T>C (p.Val152Ala) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510745] |
Chr10:77403947 [GRCh38] Chr10:79163705 [GRCh37] Chr10:10q22.3 |
uncertain significance |
NM_001161352.2(KCNMA1):c.3603G>A (p.Lys1201=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510695] |
Chr10:76887374 [GRCh38] Chr10:78647132 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.1161C>T (p.Ile387=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510774] |
Chr10:77108543 [GRCh38] Chr10:78868301 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.2802T>C (p.Asp934=) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003509107] |
Chr10:76944873 [GRCh38] Chr10:78704631 [GRCh37] Chr10:10q22.3 |
likely benign |
NM_001161352.2(KCNMA1):c.3388T>G (p.Tyr1130Asp) |
single nucleotide variant |
Generalized epilepsy-paroxysmal dyskinesia syndrome [RCV003510213] |
Chr10:76889524 [GRCh38] Chr10:78649282 [GRCh37] Chr10:10q22.3 |
uncertain significance |