NM_001143943.1(EFCAB2):c.373+732G>A |
single nucleotide variant |
Lung cancer [RCV000090751] |
Chr1:245084420 [GRCh38] Chr1:245247722 [GRCh37] Chr1:1q44 |
uncertain significance |
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 |
copy number gain |
See cases [RCV000050981] |
Chr1:214023812..248918469 [GRCh38] Chr1:214197155..249212668 [GRCh37] Chr1:212263778..247179291 [NCBI36] Chr1:1q32.3-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 |
copy number gain |
See cases [RCV000050581] |
Chr1:223347693..248918469 [GRCh38] Chr1:223521035..249212668 [GRCh37] Chr1:221587658..247179291 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] |
Chr1:221902539..248918469 [GRCh38] Chr1:222075881..249212668 [GRCh37] Chr1:220142504..247179291 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 |
copy number gain |
See cases [RCV000051878] |
Chr1:223828500..248891309 [GRCh38] Chr1:224016202..249185508 [GRCh37] Chr1:222082825..247152131 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 |
copy number gain |
See cases [RCV000051880] |
Chr1:223887780..248891309 [GRCh38] Chr1:224075482..249185508 [GRCh37] Chr1:222142105..247152131 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 |
copy number gain |
See cases [RCV000051882] |
Chr1:224096488..248918469 [GRCh38] Chr1:224284190..249212668 [GRCh37] Chr1:222350813..247179291 [NCBI36] Chr1:1q42.11-44 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 |
copy number gain |
See cases [RCV000051861] |
Chr1:209646207..248931113 [GRCh38] Chr1:209819552..249225312 [GRCh37] Chr1:207886175..247191935 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] |
Chr1:236237049..248918469 [GRCh38] Chr1:236400349..249212668 [GRCh37] Chr1:234466972..247179291 [NCBI36] Chr1:1q42.3-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 |
copy number gain |
See cases [RCV000051886] |
Chr1:239657468..248918610 [GRCh38] Chr1:239820768..249212809 [GRCh37] Chr1:237887391..247179432 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 |
copy number gain |
See cases [RCV000051888] |
Chr1:240244444..248891309 [GRCh38] Chr1:240407744..249185508 [GRCh37] Chr1:238474367..247152131 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3 |
copy number gain |
See cases [RCV000053504] |
Chr1:242828731..248891309 [GRCh38] Chr1:242992033..249185508 [GRCh37] Chr1:241058656..247152131 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:243055227-248918469)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|See cases [RCV000053506] |
Chr1:243055227..248918469 [GRCh38] Chr1:243218529..249212668 [GRCh37] Chr1:241285152..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 |
copy number loss |
See cases [RCV000053985] |
Chr1:232097468..248918610 [GRCh38] Chr1:232233214..249212809 [GRCh37] Chr1:230299837..247179432 [NCBI36] Chr1:1q42.2-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] |
Chr1:237041745..248918469 [GRCh38] Chr1:237205045..249212668 [GRCh37] Chr1:235271668..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] |
Chr1:238061020..248918469 [GRCh38] Chr1:238224320..249212668 [GRCh37] Chr1:236290943..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] |
Chr1:239496961..248918469 [GRCh38] Chr1:239660261..249212668 [GRCh37] Chr1:237726884..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 |
copy number loss |
See cases [RCV000054023] |
Chr1:239558430..248918469 [GRCh38] Chr1:239721730..249212668 [GRCh37] Chr1:237788353..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 |
copy number loss |
See cases [RCV000054024] |
Chr1:239629868..248924593 [GRCh38] Chr1:239793168..249218792 [GRCh37] Chr1:237859791..247185415 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 |
copy number loss |
See cases [RCV000054025] |
Chr1:241047422..248924593 [GRCh38] Chr1:241210722..249218792 [GRCh37] Chr1:239277345..247185415 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1 |
copy number loss |
See cases [RCV000054026] |
Chr1:241459440..247704671 [GRCh38] Chr1:241622740..247867973 [GRCh37] Chr1:239689363..245934596 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:241676908-245647727)x1 |
copy number loss |
See cases [RCV000054027] |
Chr1:241676908..245647727 [GRCh38] Chr1:241840210..245811029 [GRCh37] Chr1:239906833..243877652 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1 |
copy number loss |
See cases [RCV000054028] |
Chr1:241757249..248891309 [GRCh38] Chr1:241920551..249185508 [GRCh37] Chr1:239987174..247152131 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:242076868-248918469)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|See cases [RCV000054029] |
Chr1:242076868..248918469 [GRCh38] Chr1:242240170..249212668 [GRCh37] Chr1:240306793..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:242240797-245200164)x1 |
copy number loss |
See cases [RCV000054030] |
Chr1:242240797..245200164 [GRCh38] Chr1:242404099..245363466 [GRCh37] Chr1:240470722..243430089 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:242410569-245413313)x1 |
copy number loss |
See cases [RCV000054031] |
Chr1:242410569..245413313 [GRCh38] Chr1:242573871..245576615 [GRCh37] Chr1:240640494..243643238 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:243225391-245289313)x1 |
copy number loss |
See cases [RCV000054032] |
Chr1:243225391..245289313 [GRCh38] Chr1:243388693..245452615 [GRCh37] Chr1:241455316..243519238 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q44(chr1:243786629-248918469)x1 |
copy number loss |
See cases [RCV000054061] |
Chr1:243786629..248918469 [GRCh38] Chr1:243949931..249212668 [GRCh37] Chr1:242016554..247179291 [NCBI36] Chr1:1q44 |
pathogenic |
GRCh38/hg38 1q44(chr1:244222222-245502219)x1 |
copy number loss |
See cases [RCV000054062] |
Chr1:244222222..245502219 [GRCh38] Chr1:244385524..245665521 [GRCh37] Chr1:242452147..243732144 [NCBI36] Chr1:1q44 |
pathogenic |
GRCh38/hg38 1q44(chr1:244222222-246492114)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054063]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054063]|See cases [RCV000054063] |
Chr1:244222222..246492114 [GRCh38] Chr1:244385524..246655416 [GRCh37] Chr1:242452147..244722039 [NCBI36] Chr1:1q44 |
pathogenic |
GRCh38/hg38 1q44(chr1:244498870-248918610)x1 |
copy number loss |
See cases [RCV000054064] |
Chr1:244498870..248918610 [GRCh38] Chr1:244662172..249212809 [GRCh37] Chr1:242728795..247179432 [NCBI36] Chr1:1q44 |
pathogenic |
GRCh38/hg38 1q44(chr1:244582123-245762379)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054065]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054065]|See cases [RCV000054065] |
Chr1:244582123..245762379 [GRCh38] Chr1:244745425..245925681 [GRCh37] Chr1:242812048..243992304 [NCBI36] Chr1:1q44 |
pathogenic |
GRCh38/hg38 1q44(chr1:244692061-245647727)x1 |
copy number loss |
See cases [RCV000054066] |
Chr1:244692061..245647727 [GRCh38] Chr1:244855363..245811029 [GRCh37] Chr1:242921986..243877652 [NCBI36] Chr1:1q44 |
pathogenic |
GRCh38/hg38 1q44(chr1:244988599-245502219)x3 |
copy number gain |
See cases [RCV000133860] |
Chr1:244988599..245502219 [GRCh38] Chr1:245151901..245665521 [GRCh37] Chr1:243218524..243732144 [NCBI36] Chr1:1q44 |
benign |
GRCh38/hg38 1q44(chr1:244988599-245542967)x3 |
copy number gain |
See cases [RCV000134163] |
Chr1:244988599..245542967 [GRCh38] Chr1:245151901..245706269 [GRCh37] Chr1:243218524..243772892 [NCBI36] Chr1:1q44 |
uncertain significance |
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 |
copy number loss |
See cases [RCV000134751] |
Chr1:238753749..248918467 [GRCh38] Chr1:238917049..249212666 [GRCh37] Chr1:236983672..247179289 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 |
copy number loss |
See cases [RCV000134172] |
Chr1:238351121..248918469 [GRCh38] Chr1:238514421..249212668 [GRCh37] Chr1:236581044..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 |
copy number gain |
See cases [RCV000134979] |
Chr1:209963625..248918469 [GRCh38] Chr1:210136970..249212668 [GRCh37] Chr1:208203593..247179291 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 |
copy number gain |
See cases [RCV000135839] |
Chr1:223815147..248918469 [GRCh38] Chr1:224002849..249212668 [GRCh37] Chr1:222069472..247179291 [NCBI36] Chr1:1q41-44 |
pathogenic |
GRCh38/hg38 1q44(chr1:244582123-248918469)x1 |
copy number loss |
See cases [RCV000135611] |
Chr1:244582123..248918469 [GRCh38] Chr1:244745425..249212668 [GRCh37] Chr1:242812048..247179291 [NCBI36] Chr1:1q44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3 |
copy number gain |
See cases [RCV000136503] |
Chr1:241625115..245453782 [GRCh38] Chr1:241788417..245617084 [GRCh37] Chr1:239855040..243683707 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 |
copy number gain |
See cases [RCV000136666] |
Chr1:229022909..248918469 [GRCh38] Chr1:229158656..249212668 [GRCh37] Chr1:227225279..247179291 [NCBI36] Chr1:1q42.13-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 |
copy number loss |
See cases [RCV000137554] |
Chr1:236556082..248918469 [GRCh38] Chr1:236719382..249212668 [GRCh37] Chr1:234786005..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q44(chr1:244960522-245542967)x3 |
copy number gain |
See cases [RCV000137639] |
Chr1:244960522..245542967 [GRCh38] Chr1:245123824..245706269 [GRCh37] Chr1:243190447..243772892 [NCBI36] Chr1:1q44 |
likely benign|conflicting data from submitters |
GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4 |
copy number gain |
See cases [RCV000137155] |
Chr1:242932576..248864636 [GRCh38] Chr1:243095878..249158835 [GRCh37] Chr1:241162501..247125458 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 |
copy number loss |
See cases [RCV000137260] |
Chr1:240465122..248918469 [GRCh38] Chr1:240628422..249212668 [GRCh37] Chr1:238695045..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 |
copy number gain |
See cases [RCV000137769] |
Chr1:224022862..248918469 [GRCh38] Chr1:224210564..249212668 [GRCh37] Chr1:222277187..247179291 [NCBI36] Chr1:1q42.11-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:241967139-245542967)x3 |
copy number gain |
See cases [RCV000138233] |
Chr1:241967139..245542967 [GRCh38] Chr1:242130441..245706269 [GRCh37] Chr1:240197064..243772892 [NCBI36] Chr1:1q43-44 |
likely pathogenic |
GRCh38/hg38 1q44(chr1:244998996-246049903)x3 |
copy number gain |
See cases [RCV000138336] |
Chr1:244998996..246049903 [GRCh38] Chr1:245162298..246213205 [GRCh37] Chr1:243228921..244279828 [NCBI36] Chr1:1q44 |
uncertain significance |
GRCh38/hg38 1q44(chr1:244960522-245502219)x3 |
copy number gain |
See cases [RCV000139113] |
Chr1:244960522..245502219 [GRCh38] Chr1:245123824..245665521 [GRCh37] Chr1:243190447..243732144 [NCBI36] Chr1:1q44 |
uncertain significance |
GRCh38/hg38 1q43-44(chr1:242782194-245138126)x3 |
copy number gain |
See cases [RCV000140438] |
Chr1:242782194..245138126 [GRCh38] Chr1:242945496..245301428 [GRCh37] Chr1:241012119..243368051 [NCBI36] Chr1:1q43-44 |
uncertain significance |
GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1 |
copy number loss |
See cases [RCV000139889] |
Chr1:242045279..248930485 [GRCh38] Chr1:242208581..249224684 [GRCh37] Chr1:240275204..247191307 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 |
copy number loss |
See cases [RCV000140039] |
Chr1:238033575..248924534 [GRCh38] Chr1:238196875..249218733 [GRCh37] Chr1:236263498..247185356 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 |
copy number gain |
See cases [RCV000142448] |
Chr1:225438480..248787200 [GRCh38] Chr1:225626182..249060210 [GRCh37] Chr1:223692805..247048022 [NCBI36] Chr1:1q42.12-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 |
copy number loss |
See cases [RCV000142518] |
Chr1:237643281..248918469 [GRCh38] Chr1:237806581..249212668 [GRCh37] Chr1:235873204..247179291 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 |
copy number loss |
See cases [RCV000143374] |
Chr1:238192880..248930485 [GRCh38] Chr1:238356180..249224684 [GRCh37] Chr1:236422803..247191307 [NCBI36] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 |
copy number gain |
See cases [RCV000143727] |
Chr1:207346642..248930485 [GRCh38] Chr1:207519987..249224684 [GRCh37] Chr1:205586610..247191307 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4 |
copy number gain |
See cases [RCV000511337] |
Chr1:242324398..249224684 [GRCh37] Chr1:1q43-44 |
likely pathogenic |
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 |
copy number gain |
See cases [RCV000240034] |
Chr1:234050864..249213059 [GRCh37] Chr1:1q42.2-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:242357208-246378823)x1 |
copy number loss |
See cases [RCV000240515] |
Chr1:242357208..246378823 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:243103401-249119318)x1 |
copy number loss |
See cases [RCV000240522] |
Chr1:243103401..249119318 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 |
copy number gain |
See cases [RCV000449172] |
Chr1:195483439..249213000 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 |
copy number gain |
See cases [RCV000449458] |
Chr1:236515525..249224684 [GRCh37] Chr1:1q42.3-44 |
pathogenic |
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 |
copy number gain |
See cases [RCV000449210] |
Chr1:214697099..249224684 [GRCh37] Chr1:1q41-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 |
copy number loss |
See cases [RCV000447669] |
Chr1:237233879..249206548 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q44(chr1:245066254-245687133)x1 |
copy number loss |
See cases [RCV000446140] |
Chr1:245066254..245687133 [GRCh37] Chr1:1q44 |
uncertain significance |
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 |
copy number gain |
See cases [RCV000447584] |
Chr1:239781260..249224684 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 |
copy number loss |
See cases [RCV000447426] |
Chr1:235374095..249224684 [GRCh37] Chr1:1q42.3-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:241094652-246670839)x1 |
copy number loss |
See cases [RCV000446261] |
Chr1:241094652..246670839 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 |
copy number gain |
See cases [RCV000447654] |
Chr1:231670870..249213000 [GRCh37] Chr1:1q42.2-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3 |
copy number gain |
See cases [RCV000448507] |
Chr1:242656460..249213000 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:241601964-249224684)x1 |
copy number loss |
See cases [RCV000448028] |
Chr1:241601964..249224684 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q44(chr1:244385524-246707775)x1 |
copy number loss |
See cases [RCV000448712] |
Chr1:244385524..246707775 [GRCh37] Chr1:1q44 |
pathogenic |
GRCh37/hg19 1q44(chr1:244517415-246324760)x1 |
copy number loss |
See cases [RCV000448270] |
Chr1:244517415..246324760 [GRCh37] Chr1:1q44 |
pathogenic |
GRCh37/hg19 1q44(chr1:244879310-246176769)x3 |
copy number gain |
See cases [RCV000512086] |
Chr1:244879310..246176769 [GRCh37] Chr1:1q44 |
uncertain significance |
GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1 |
copy number loss |
See cases [RCV000512075] |
Chr1:240620284..247690417 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 |
copy number loss |
See cases [RCV000510546] |
Chr1:235797384..249224684 [GRCh37] Chr1:1q42.3-44 |
pathogenic |
GRCh37/hg19 1q44(chr1:244197791-249224684)x4 |
copy number gain |
See cases [RCV000510563] |
Chr1:244197791..249224684 [GRCh37] Chr1:1q44 |
likely pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q44(chr1:245162074-245835098)x3 |
copy number gain |
See cases [RCV000511899] |
Chr1:245162074..245835098 [GRCh37] Chr1:1q44 |
likely benign |
GRCh37/hg19 1q44(chr1:244281222-247789907)x3 |
copy number gain |
See cases [RCV000511438] |
Chr1:244281222..247789907 [GRCh37] Chr1:1q44 |
uncertain significance |
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 |
copy number gain |
See cases [RCV000510981] |
Chr1:224105294..249224684 [GRCh37] Chr1:1q42.11-44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q44(chr1:245100637-245684992)x3 |
copy number gain |
See cases [RCV000510855] |
Chr1:245100637..245684992 [GRCh37] Chr1:1q44 |
uncertain significance |
46,XX,der(1)(q44,q44).seq[GRCh37/hg19]der(1)(1pter->1q44(+)(244867200)::TCGCC{5}::q44(-)(246816211),q44(-)(2460642{39-40})::CGG...CCC{49}::q44(+)(246569872)->1qter) |
complex |
Developmental and epileptic encephalopathy, 54 [RCV000714958] |
Chr1:244867200..246816211 [GRCh37] Chr1:1q44 |
likely pathogenic |
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 |
copy number gain |
not provided [RCV000684700] |
Chr1:218252551..249224684 [GRCh37] Chr1:1q41-44 |
pathogenic |
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 |
copy number gain |
not provided [RCV000684707] |
Chr1:228529973..249181598 [GRCh37] Chr1:1q42.13-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1 |
copy number loss |
not provided [RCV000684716] |
Chr1:241051170..249224684 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:243099588-245703296)x1 |
copy number loss |
not provided [RCV000684719] |
Chr1:243099588..245703296 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q44(chr1:244797639-249224684)x1 |
copy number loss |
not provided [RCV000684725] |
Chr1:244797639..249224684 [GRCh37] Chr1:1q44 |
pathogenic |
GRCh37/hg19 1q44(chr1:244938497-245848206)x3 |
copy number gain |
not provided [RCV000684726] |
Chr1:244938497..245848206 [GRCh37] Chr1:1q44 |
uncertain significance |
GRCh37/hg19 1q44(chr1:245278737-245971950)x1 |
copy number loss |
not provided [RCV000684728] |
Chr1:245278737..245971950 [GRCh37] Chr1:1q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 |
copy number gain |
not provided [RCV000749394] |
Chr1:232232335..249218992 [GRCh37] Chr1:1q42.2-44 |
pathogenic |
NM_032328.4(EFCAB2):c.219C>T (p.Phe73=) |
single nucleotide variant |
not provided [RCV000949663] |
Chr1:245082118 [GRCh38] Chr1:245245420 [GRCh37] Chr1:1q44 |
benign |
GRCh37/hg19 1q43-44(chr1:242150334-246518362) |
copy number loss |
not provided [RCV000767623] |
Chr1:242150334..246518362 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q44(chr1:245099442-245696376)x3 |
copy number gain |
not provided [RCV000848969] |
Chr1:245099442..245696376 [GRCh37] Chr1:1q44 |
uncertain significance |
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 |
copy number gain |
not provided [RCV000845852] |
Chr1:182388773..249111240 [GRCh37] Chr1:1q25.3-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 |
copy number gain |
not provided [RCV000849904] |
Chr1:238669293..249224684 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q44(chr1:245100016-245697858)x3 |
copy number gain |
not provided [RCV000848767] |
Chr1:245100016..245697858 [GRCh37] Chr1:1q44 |
uncertain significance |
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 |
copy number gain |
not provided [RCV000846184] |
Chr1:235582580..249224684 [GRCh37] Chr1:1q42.3-44 |
pathogenic |
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 |
copy number gain |
See cases [RCV001194578] |
Chr1:210152794..249218992 [GRCh37] Chr1:1q32.2-44 |
pathogenic |
GRCh37/hg19 1q44(chr1:244379481-249224684)x1 |
copy number loss |
not provided [RCV000845861] |
Chr1:244379481..249224684 [GRCh37] Chr1:1q44 |
pathogenic |
GRCh37/hg19 1q44(chr1:244546830-246826108)x3 |
copy number gain |
not provided [RCV001005208] |
Chr1:244546830..246826108 [GRCh37] Chr1:1q44 |
uncertain significance |
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 |
copy number gain |
See cases [RCV001007407] |
Chr1:204045948..249218992 [GRCh37] Chr1:1q32.1-44 |
pathogenic |
NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
GRCh37/hg19 1q44(chr1:244811325-245725982)x1 |
copy number loss |
not provided [RCV001537902] |
Chr1:244811325..245725982 [GRCh37] Chr1:1q44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:240554955-247342593) |
copy number loss |
Corpus callosum, agenesis of [RCV001352645] |
Chr1:240554955..247342593 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1 |
copy number loss |
See cases [RCV002292708] |
Chr1:233012994..249206918 [GRCh37] Chr1:1q42.2-44 |
pathogenic |
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 |
copy number gain |
See cases [RCV002287837] |
Chr1:197867914..249224684 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1 |
copy number loss |
not provided [RCV002474504] |
Chr1:239910960..249224684 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3 |
copy number gain |
not provided [RCV002472628] |
Chr1:243258050..249224684 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:243085543-247137125)x3 |
copy number gain |
not provided [RCV002474542] |
Chr1:243085543..247137125 [GRCh37] Chr1:1q43-44 |
pathogenic |
Single allele |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002481171] |
Chr1:242045197..249212668 [GRCh37] Chr1:1q43-44 |
likely pathogenic |
NM_032328.4(EFCAB2):c.422T>C (p.Ile141Thr) |
single nucleotide variant |
not specified [RCV004209848] |
Chr1:245087293 [GRCh38] Chr1:245250595 [GRCh37] Chr1:1q44 |
uncertain significance |
NM_032328.4(EFCAB2):c.16G>A (p.Asp6Asn) |
single nucleotide variant |
not specified [RCV004190662] |
Chr1:244970434 [GRCh38] Chr1:245133736 [GRCh37] Chr1:1q44 |
uncertain significance |
GRCh37/hg19 1q44(chr1:245198230-245883150)x3 |
copy number gain |
not provided [RCV002475708] |
Chr1:245198230..245883150 [GRCh37] Chr1:1q44 |
uncertain significance |
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 |
copy number gain |
not provided [RCV002475745] |
Chr1:223972939..249224684 [GRCh37] Chr1:1q41-44 |
pathogenic |
Single allele |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002481172] |
Chr1:244571975..246704522 [GRCh37] Chr1:1q44 |
likely pathogenic |
NM_032328.4(EFCAB2):c.37G>A (p.Ala13Thr) |
single nucleotide variant |
not specified [RCV004204550] |
Chr1:245017253 [GRCh38] Chr1:245180555 [GRCh37] Chr1:1q44 |
uncertain significance |
GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1 |
copy number loss |
Intellectual disability, autosomal dominant 22 [RCV003327711] |
Chr1:243221458..248919110 [GRCh38] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1 |
copy number loss |
Intellectual disability, autosomal dominant 22 [RCV003327725] |
Chr1:235215476..247005888 [GRCh38] Chr1:1q42.3-44 |
pathogenic |
GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1 |
copy number loss |
Intellectual disability, autosomal dominant 22 [RCV003327716] |
Chr1:242164274..245299473 [GRCh38] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 |
copy number gain |
not provided [RCV003484052] |
Chr1:229373250..249206595 [GRCh37] Chr1:1q42.13-44 |
pathogenic |
GRCh37/hg19 1q44(chr1:244797640-245282349)x3 |
copy number gain |
not provided [RCV003484056] |
Chr1:244797640..245282349 [GRCh37] Chr1:1q44 |
uncertain significance |
GRCh37/hg19 1q44(chr1:244579324-246515944)x1 |
copy number loss |
not specified [RCV003986429] |
Chr1:244579324..246515944 [GRCh37] Chr1:1q44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3 |
copy number gain |
not specified [RCV003986862] |
Chr1:238681812..249224684 [GRCh37] Chr1:1q43-44 |
likely pathogenic |
GRCh37/hg19 1q43-44(chr1:243453390-245467768)x1 |
copy number loss |
not specified [RCV003987217] |
Chr1:243453390..245467768 [GRCh37] Chr1:1q43-44 |
pathogenic |
GRCh37/hg19 1q43-44(chr1:243364757-245372332)x1 |
copy number loss |
not provided [RCV004577448] |
Chr1:243364757..245372332 [GRCh37] Chr1:1q43-44 |
pathogenic |
NM_032328.4(EFCAB2):c.16G>T (p.Asp6Tyr) |
single nucleotide variant |
not specified [RCV004384783] |
Chr1:244970434 [GRCh38] Chr1:245133736 [GRCh37] Chr1:1q44 |
uncertain significance |
NM_032328.4(EFCAB2):c.455A>T (p.Asp152Val) |
single nucleotide variant |
not specified [RCV004384784] |
Chr1:245087326 [GRCh38] Chr1:245250628 [GRCh37] Chr1:1q44 |
uncertain significance |
NM_032328.4(EFCAB2):c.106G>C (p.Val36Leu) |
single nucleotide variant |
not specified [RCV004384782] |
Chr1:245017322 [GRCh38] Chr1:245180624 [GRCh37] Chr1:1q44 |
uncertain significance |
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1 |
copy number loss |
Intellectual disability, autosomal dominant 22 [RCV003333897] |
Chr1:239907336..248919110 [GRCh38] Chr1:1q43-44 |
pathogenic |
GRCh38/hg38 1q44(chr1:244923388-246158204)x3 |
copy number gain |
See cases [RCV000133990] |
Chr1:244923388..246158204 [GRCh38] Chr1:245086690..246321506 [GRCh37] Chr1:243153313..244388129 [NCBI36] Chr1:1q44 |
uncertain significance |
GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1 |
copy number loss |
Intellectual disability, autosomal dominant 22 [RCV003333898] |
Chr1:242520315..246857912 [GRCh38] Chr1:1q43-44 |
pathogenic |