| NM_031844.3(HNRNPU):c.1674dup (p.Ala559fs) |
duplication |
Intellectual disability [RCV001526520] |
Chr1:244856796..244856797 [GRCh38]
Chr1:245020098..245020099 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1669C>T (p.Gln557Ter) |
single nucleotide variant |
not provided [RCV000627274] |
Chr1:244856802 [GRCh38]
Chr1:245020104 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.837A>T (p.Glu279Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002529970] |
Chr1:244862501 [GRCh38]
Chr1:245025803 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1536C>T (p.Thr512=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002533239] |
Chr1:244857676 [GRCh38]
Chr1:245020978 [GRCh37]
Chr1:1q44 |
likely benign |
| GRCh38/hg38 1q44(chr1:243677224-244923447)x1 |
copy number loss |
See cases [RCV000050929] |
Chr1:243677224..244923447 [GRCh38]
Chr1:243840526..245086749 [GRCh37]
Chr1:241907149..243153372 [NCBI36]
Chr1:1q44 |
pathogenic |
| 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 |
| NM_031844.3(HNRNPU):c.878-10A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002548464] |
Chr1:244860484 [GRCh38]
Chr1:245023786 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1 |
copy number loss |
See cases [RCV002292708] |
Chr1:233012994..249206918 [GRCh37]
Chr1:1q42.2-44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1064A>T (p.Asp355Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001253124] |
Chr1:244859328 [GRCh38]
Chr1:245022630 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1744-47G>A |
single nucleotide variant |
not provided [RCV001564875] |
Chr1:244856672 [GRCh38]
Chr1:245019974 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2111G>A (p.Gly704Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002539503] |
Chr1:244855960 [GRCh38]
Chr1:245019262 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.255GGA[1] (p.Glu93_Glu94del) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002553924] |
Chr1:244864045..244864050 [GRCh38]
Chr1:245027347..245027352 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1405A>G (p.Ile469Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002545598] |
Chr1:244858100 [GRCh38]
Chr1:245021402 [GRCh37]
Chr1:1q44 |
benign|uncertain significance |
| NM_031844.3(HNRNPU):c.553G>A (p.Gly185Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001333300] |
Chr1:244863755 [GRCh38]
Chr1:245027057 [GRCh37]
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 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 |
| NM_031844.3(HNRNPU):c.607G>A (p.Ala203Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003765312]|not specified [RCV000202916] |
Chr1:244863701 [GRCh38]
Chr1:245027003 [GRCh37]
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 |
| NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002247599]|Intellectual disability and seizures [RCV000185558] |
Chr1:244855471..244855472 [GRCh38]
Chr1:245018773..245018774 [GRCh37]
Chr1:1q44 |
pathogenic|likely pathogenic |
| NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000209838] |
Chr1:244864241 [GRCh38]
Chr1:245027543 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.2299_2302del (p.Asn767fs) |
deletion |
Inborn genetic diseases [RCV000624065]|heterogeneous nuclear ribonucleoprotein G, human [RCV000227748] |
Chr1:244855474..244855477 [GRCh38]
Chr1:245018776..245018779 [GRCh37]
Chr1:1q44 |
pathogenic|uncertain significance |
| 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 |
| NM_031844.3(HNRNPU):c.520C>T (p.Gln174Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002272203]|not provided [RCV000351851] |
Chr1:244863788 [GRCh38]
Chr1:245027090 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1681C>T (p.Gln561Ter) |
single nucleotide variant |
not provided [RCV000523247] |
Chr1:244856790 [GRCh38]
Chr1:245020092 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.692-345G>A |
single nucleotide variant |
not provided [RCV001574583] |
Chr1:244863075 [GRCh38]
Chr1:245026377 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2085dup (p.Gly696fs) |
duplication |
Inborn genetic diseases [RCV000623960] |
Chr1:244855985..244855986 [GRCh38]
Chr1:245019287..245019288 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.253dup (p.Glu85fs) |
duplication |
not provided [RCV000598756] |
Chr1:244864054..244864055 [GRCh38]
Chr1:245027356..245027357 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1450C>T (p.Arg484Ter) |
single nucleotide variant |
not provided [RCV000627344] |
Chr1:244858055 [GRCh38]
Chr1:245021357 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.316_322del (p.Leu106fs) |
deletion |
not provided [RCV000523788] |
Chr1:244863986..244863992 [GRCh38]
Chr1:245027288..245027294 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV000585859] |
Chr1:244863906..244863907 [GRCh38]
Chr1:245027208..245027209 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.1477G>A (p.Glu493Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002529972] |
Chr1:244858028 [GRCh38]
Chr1:245021330 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1137dup (p.Gly380fs) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV002533238] |
Chr1:244858821..244858822 [GRCh38]
Chr1:245022123..245022124 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1117+10_1117+12del |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002529979] |
Chr1:244859263..244859265 [GRCh38]
Chr1:245022565..245022567 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.743_749del (p.Arg248fs) |
deletion |
not provided [RCV000523913] |
Chr1:244862673..244862679 [GRCh38]
Chr1:245025975..245025981 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.831AGA[2] (p.Glu279del) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002480265]|not provided [RCV000412787] |
Chr1:244862499..244862501 [GRCh38]
Chr1:245025801..245025803 [GRCh37]
Chr1:1q44 |
likely pathogenic|uncertain significance |
| 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 |
| NM_031844.3(HNRNPU):c.1865_1867del (p.Glu622del) |
deletion |
not provided [RCV000522989] |
Chr1:244856502..244856504 [GRCh38]
Chr1:245019804..245019806 [GRCh37]
Chr1:1q44 |
uncertain significance |
| 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 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 |
| NM_031844.3(HNRNPU):c.1812dup (p.Val605fs) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV000445555] |
Chr1:244856556..244856557 [GRCh38]
Chr1:245019858..245019859 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.511C>T (p.Gln171Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000445561] |
Chr1:244863797 [GRCh38]
Chr1:245027099 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.149_156del (p.Arg50fs) |
deletion |
Seizure [RCV000680008] |
Chr1:244864152..244864159 [GRCh38]
Chr1:245027454..245027461 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2471_2472delinsGA (p.Tyr824Ter) |
indel |
Developmental and epileptic encephalopathy, 54 [RCV000445557] |
Chr1:244854456..244854457 [GRCh38]
Chr1:245017758..245017759 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.596dup (p.Pro200fs) |
duplication |
Intellectual disability [RCV000505258] |
Chr1:244863711..244863712 [GRCh38]
Chr1:245027013..245027014 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 1 [RCV001824767]|not provided [RCV000424048] |
Chr1:244863955 [GRCh38]
Chr1:245027257 [GRCh37]
Chr1:1q44 |
pathogenic|not provided |
| NM_031844.3(HNRNPU):c.1167C>T (p.Cys389=) |
single nucleotide variant |
not specified [RCV000432775] |
Chr1:244858792 [GRCh38]
Chr1:245022094 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.628dup (p.Ala210fs) |
duplication |
not provided [RCV000433810] |
Chr1:244863679..244863680 [GRCh38]
Chr1:245026981..245026982 [GRCh37]
Chr1:1q44 |
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 1q43-44(chr1:242656460-249213000)x3 |
copy number gain |
See cases [RCV000448507] |
Chr1:242656460..249213000 [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 |
| NM_031844.3(HNRNPU):c.288C>T (p.Ile96=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002525652] |
Chr1:244864020 [GRCh38]
Chr1:245027322 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.141C>T (p.Ala47=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002525655]|Inborn genetic diseases [RCV002313202]|not provided [RCV000711968] |
Chr1:244864167 [GRCh38]
Chr1:245027469 [GRCh37]
Chr1:1q44 |
benign|likely benign |
| NM_031844.3(HNRNPU):c.1268A>G (p.Lys423Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002496813]|Inborn genetic diseases [RCV002318551] |
Chr1:244858237 [GRCh38]
Chr1:245021539 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_198076.5(COX20):c.*14_*15insAGAAA |
insertion |
not specified [RCV000483824] |
Chr1:244843190..244843191 [GRCh38]
Chr1:245006492..245006493 [GRCh37]
Chr1:1q44 |
benign |
| GRCh37/hg19 1q44(chr1:244879310-246176769)x3 |
copy number gain |
See cases [RCV000512086] |
Chr1:244879310..246176769 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1518del (p.Gly507fs) |
deletion |
not provided [RCV000482404] |
Chr1:244857694 [GRCh38]
Chr1:245020996 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1319C>A (p.Ala440Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000763847]|Inborn genetic diseases [RCV002379432] |
Chr1:244858186 [GRCh38]
Chr1:245021488 [GRCh37]
Chr1:1q44 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_031844.3(HNRNPU):c.2466A>T (p.Gln822His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002526654]|not provided [RCV000480911] |
Chr1:244854462 [GRCh38]
Chr1:245017764 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.981T>C (p.Tyr327=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000464439] |
Chr1:244860371 [GRCh38]
Chr1:245023673 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.875C>T (p.Thr292Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002525545]|HNRNPU-related disorder [RCV003972756]|not provided [RCV001534908] |
Chr1:244862463 [GRCh38]
Chr1:245025765 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1215G>A (p.Val405=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002525654]|Inborn genetic diseases [RCV002313201]|not provided [RCV000711967] |
Chr1:244858744 [GRCh38]
Chr1:245022046 [GRCh37]
Chr1:1q44 |
benign|likely benign |
| NM_031844.3(HNRNPU):c.1329A>G (p.Pro443=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002525653] |
Chr1:244858176 [GRCh38]
Chr1:245021478 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1118-7_1118-3del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002525956]|not provided [RCV000485202] |
Chr1:244858844..244858848 [GRCh38]
Chr1:245022146..245022150 [GRCh37]
Chr1:1q44 |
pathogenic|likely pathogenic|uncertain significance |
| NM_031844.3(HNRNPU):c.1460G>C (p.Gly487Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002526402]|Inborn genetic diseases [RCV002393100]|not provided [RCV001692128] |
Chr1:244858045 [GRCh38]
Chr1:245021347 [GRCh37]
Chr1:1q44 |
benign|likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1743+8G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002489103]|not provided [RCV001551853] |
Chr1:244856720 [GRCh38]
Chr1:245020022 [GRCh37]
Chr1:1q44 |
benign|likely benign |
| NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002525656]|Inborn genetic diseases [RCV002311785]|not provided [RCV000516452] |
Chr1:244855607 [GRCh38]
Chr1:245018909 [GRCh37]
Chr1:1q44 |
benign|likely benign |
| NM_031844.3(HNRNPU):c.550_571dup (p.Thr191fs) |
duplication |
not provided [RCV000478096] |
Chr1:244863736..244863737 [GRCh38]
Chr1:245027038..245027039 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1743+10A>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003103792]|not provided [RCV000711970] |
Chr1:244856718 [GRCh38]
Chr1:245020020 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1272T>C (p.Asn424=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000462030] |
Chr1:244858233 [GRCh38]
Chr1:245021535 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2193T>C (p.Asn731=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002526477]|HNRNPU-related disorder [RCV003915291]|Inborn genetic diseases [RCV002429586]|not provided [RCV001675904] |
Chr1:244855583 [GRCh38]
Chr1:245018885 [GRCh37]
Chr1:1q44 |
benign|likely benign |
| NM_031844.3(HNRNPU):c.2247C>T (p.Ile749=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000473449] |
Chr1:244855529 [GRCh38]
Chr1:245018831 [GRCh37]
Chr1:1q44 |
likely benign |
| GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1 |
copy number loss |
See cases [RCV000512075] |
Chr1:240620284..247690417 [GRCh37]
Chr1:1q43-44 |
pathogenic |
| NM_031844.3(HNRNPU):c.307C>T (p.Gln103Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002525546] |
Chr1:244864001 [GRCh38]
Chr1:245027303 [GRCh37]
Chr1:1q44 |
pathogenic|uncertain significance |
| NM_031844.3(HNRNPU):c.1288G>A (p.Val430Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000473783]|Inborn genetic diseases [RCV002525544]|not provided [RCV003418166] |
Chr1:244858217 [GRCh38]
Chr1:245021519 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs) |
indel |
Developmental and epileptic encephalopathy, 54 [RCV000496156] |
Chr1:244864292 [GRCh38]
Chr1:245027594 [GRCh37]
Chr1:1q44 |
pathogenic|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 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 |
| NM_031844.3(HNRNPU):c.2270_2271del (p.Pro757fs) |
deletion |
Epileptic encephalopathy [RCV000496120]|not provided [RCV000598970] |
Chr1:244855505..244855506 [GRCh38]
Chr1:245018807..245018808 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1089G>A (p.Trp363Ter) |
single nucleotide variant |
Epileptic encephalopathy [RCV000496124] |
Chr1:244859303 [GRCh38]
Chr1:245022605 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1714C>T (p.Arg572Ter) |
single nucleotide variant |
Epileptic encephalopathy [RCV000496151]|Seizure [RCV000680009] |
Chr1:244856757 [GRCh38]
Chr1:245020059 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV001169868]|Epileptic encephalopathy [RCV000496191]|not provided [RCV001551156] |
Chr1:244863648..244863657 [GRCh38]
Chr1:245026950..245026959 [GRCh37]
Chr1:1q44 |
pathogenic|uncertain significance |
| NM_031844.3(HNRNPU):c.664G>A (p.Gly222Ser) |
single nucleotide variant |
not specified [RCV000503196] |
Chr1:244863644 [GRCh38]
Chr1:245026946 [GRCh37]
Chr1:1q44 |
uncertain significance |
| 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 |
| NM_031844.3(HNRNPU):c.1230+5G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000754785]|HNRNPU-related disorder [RCV004545789]|not provided [RCV000578651] |
Chr1:244858724 [GRCh38]
Chr1:245022026 [GRCh37]
Chr1:1q44 |
pathogenic|likely pathogenic|not provided |
| NM_031844.3(HNRNPU):c.2199G>T (p.Arg733Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV000624368] |
Chr1:244855577 [GRCh38]
Chr1:245018879 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1952A>C (p.Glu651Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002529973]|Inborn genetic diseases [RCV002420725] |
Chr1:244856119 [GRCh38]
Chr1:245019421 [GRCh37]
Chr1:1q44 |
benign|uncertain significance |
| NM_031844.3(HNRNPU):c.365AGG[3] (p.Glu125del) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV000515617]|heterogeneous nuclear ribonucleoprotein G, human [RCV000544136]|not provided [RCV001662523] |
Chr1:244863932..244863934 [GRCh38]
Chr1:245027234..245027236 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1081A>G (p.Ile361Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000515618]|Inborn genetic diseases [RCV002431474] |
Chr1:244859311 [GRCh38]
Chr1:245022613 [GRCh37]
Chr1:1q44 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_031844.3(HNRNPU):c.1516C>T (p.Pro506Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV000623746] |
Chr1:244857696 [GRCh38]
Chr1:245020998 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1642G>A (p.Asp548Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000515624] |
Chr1:244856829 [GRCh38]
Chr1:245020131 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.83A>G (p.Lys28Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002525009]|Inborn genetic diseases [RCV002438240]|not provided [RCV003222012] |
Chr1:244864225 [GRCh38]
Chr1:245027527 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1000G>C (p.Val334Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002533236] |
Chr1:244860352 [GRCh38]
Chr1:245023654 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.393G>A (p.Glu131=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002529977] |
Chr1:244863915 [GRCh38]
Chr1:245027217 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.970A>G (p.Arg324Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV000624862] |
Chr1:244860382 [GRCh38]
Chr1:245023684 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.2319_2320del (p.Gly774fs) |
microsatellite |
not provided [RCV000522673] |
Chr1:244855456..244855457 [GRCh38]
Chr1:245018758..245018759 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.429T>C (p.Asp143=) |
single nucleotide variant |
heterogeneous nuclear ribonucleoprotein G, human [RCV001512671] |
Chr1:244863879 [GRCh38]
Chr1:245027181 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.124C>T (p.Leu42=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000515635] |
Chr1:244864184 [GRCh38]
Chr1:245027486 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1434C>T (p.Asn478=) |
single nucleotide variant |
not provided [RCV000541160] |
Chr1:244858071 [GRCh38]
Chr1:245021373 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.481C>T (p.Gln161Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000515619]|not provided [RCV004722854] |
Chr1:244863827 [GRCh38]
Chr1:245027129 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.507G>A (p.Gln169=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002525006]|HNRNPU-related disorder [RCV004754457]|Inborn genetic diseases [RCV002314897]|not provided [RCV000558591]|not specified [RCV001821448] |
Chr1:244863801 [GRCh38]
Chr1:245027103 [GRCh37]
Chr1:1q44 |
benign|likely benign |
| NM_031844.3(HNRNPU):c.1710T>C (p.Ala570=) |
single nucleotide variant |
heterogeneous nuclear ribonucleoprotein G, human [RCV000530792] |
Chr1:244856761 [GRCh38]
Chr1:245020063 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2166A>C (p.Gly722=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002529975]|not provided [RCV003420119] |
Chr1:244855905 [GRCh38]
Chr1:245019207 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1439C>T (p.Pro480Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591766]|not provided [RCV001550923] |
Chr1:244858066 [GRCh38]
Chr1:245021368 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.484del (p.Gln162fs) |
deletion |
heterogeneous nuclear ribonucleoprotein G, human [RCV000639401] |
Chr1:244863824 [GRCh38]
Chr1:245027126 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2118T>C (p.His706=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002529978] |
Chr1:244855953 [GRCh38]
Chr1:245019255 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1117+9T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002533240] |
Chr1:244859266 [GRCh38]
Chr1:245022568 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.567C>T (p.Gly189=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591741]|not provided [RCV000536769] |
Chr1:244863741 [GRCh38]
Chr1:245027043 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.380C>T (p.Ala127Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000515626] |
Chr1:244863928 [GRCh38]
Chr1:245027230 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001839010]|Inborn genetic diseases [RCV002431475] |
Chr1:244855528 [GRCh38]
Chr1:245018830 [GRCh37]
Chr1:1q44 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_031844.3(HNRNPU):c.2408A>G (p.Asn803Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000515632] |
Chr1:244854989 [GRCh38]
Chr1:245018291 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1156A>G (p.Ile386Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000515634] |
Chr1:244858803 [GRCh38]
Chr1:245022105 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.661_669del (p.Gly221_Gly223del) |
deletion |
not provided [RCV003312160] |
Chr1:244863639..244863647 [GRCh38]
Chr1:245026941..245026949 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.621G>A (p.Gln207=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002525007]|HNRNPU-related disorder [RCV003935360]|Inborn genetic diseases [RCV002316465]|not provided [RCV000547113] |
Chr1:244863687 [GRCh38]
Chr1:245026989 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.336C>T (p.Ala112=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000515637]|Inborn genetic diseases [RCV002455989] |
Chr1:244863972 [GRCh38]
Chr1:245027274 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.614A>G (p.Gln205Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002529971] |
Chr1:244863694 [GRCh38]
Chr1:245026996 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1017+8C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002533237] |
Chr1:244860327 [GRCh38]
Chr1:245023629 [GRCh37]
Chr1:1q44 |
benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1186T>C (p.Tyr396His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002529974] |
Chr1:244858773 [GRCh38]
Chr1:245022075 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1117+6G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002529976] |
Chr1:244859269 [GRCh38]
Chr1:245022571 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.2(HNRNPU):c.2166_2167+1delAGG |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV000768231]|HNRNPU-related disorder [RCV003937925]|Inborn genetic diseases [RCV002315960]|not provided [RCV001692243] |
Chr1:244855903..244855905 [GRCh38]
Chr1:245019205..245019207 [GRCh37]
Chr1:1q44 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_031844.3(HNRNPU):c.1743G>C (p.Gln581His) |
single nucleotide variant |
not provided [RCV000656291] |
Chr1:244856728 [GRCh38]
Chr1:245020030 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.521A>G (p.Gln174Arg) |
single nucleotide variant |
Seizure [RCV000626974] |
Chr1:244863787 [GRCh38]
Chr1:245027089 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.191_206del (p.Gly64fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002533161]|not provided [RCV000627592] |
Chr1:244864102..244864117 [GRCh38]
Chr1:245027404..245027419 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.125T>C (p.Leu42Pro) |
single nucleotide variant |
not provided [RCV000658556] |
Chr1:244864183 [GRCh38]
Chr1:245027485 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2425-2A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000677643]|not provided [RCV001824358] |
Chr1:244854505 [GRCh38]
Chr1:245017807 [GRCh37]
Chr1:1q44 |
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(chr1:244785943-245030221)x3 |
copy number gain |
not provided [RCV000684724] |
Chr1:244785943..245030221 [GRCh37]
Chr1:1q44 |
uncertain significance |
| 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(chr1:244971506-245024284)x1 |
copy number loss |
not provided [RCV000684727] |
Chr1:244971506..245024284 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.365AGG[5] (p.Glu125dup) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002533627] |
Chr1:244863931..244863932 [GRCh38]
Chr1:245027233..245027234 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1259C>T (p.Ser420Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001249272]|not provided [RCV000992168] |
Chr1:244858246 [GRCh38]
Chr1:245021548 [GRCh37]
Chr1:1q44 |
uncertain significance|not provided |
| NM_031844.3(HNRNPU):c.1495-3T>C |
single nucleotide variant |
not specified [RCV001644776] |
Chr1:244857720 [GRCh38]
Chr1:245021022 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1494+7G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002544869] |
Chr1:244858004 [GRCh38]
Chr1:245021306 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1251A>G (p.Val417=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002534551]|HNRNPU-related disorder [RCV003965482]|Inborn genetic diseases [RCV002314581]|not provided [RCV001655579] |
Chr1:244858254 [GRCh38]
Chr1:245021556 [GRCh37]
Chr1:1q44 |
benign|likely benign |
| 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 |
| NM_031844.3(HNRNPU):c.261G>A (p.Glu87=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001702551]|Inborn genetic diseases [RCV002312249]|not provided [RCV000711971] |
Chr1:244864047 [GRCh38]
Chr1:245027349 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1089G>C (p.Trp363Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002316121] |
Chr1:244859303 [GRCh38]
Chr1:245022605 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1118-13_1118-10del |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002533734] |
Chr1:244858851..244858854 [GRCh38]
Chr1:245022153..245022156 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2263C>T (p.Arg755Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002547137] |
Chr1:244855513 [GRCh38]
Chr1:245018815 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.264AGAGGA[1] (p.Glu93_Glu94del) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002534459]|HNRNPU-related disorder [RCV003980320]|not provided [RCV001537560] |
Chr1:244864033..244864038 [GRCh38]
Chr1:245027335..245027340 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.651AGGCGGCGG[1] (p.Gly221_Gly223del) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002533750]|not provided [RCV001558451] |
Chr1:244863640..244863648 [GRCh38]
Chr1:245026942..245026950 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1495-10_1495-6del |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002534360] |
Chr1:244857723..244857727 [GRCh38]
Chr1:245021025..245021029 [GRCh37]
Chr1:1q44 |
benign|uncertain significance |
| NM_031844.3(HNRNPU):c.866G>T (p.Cys289Phe) |
single nucleotide variant |
heterogeneous nuclear ribonucleoprotein G, human [RCV000706605] |
Chr1:244862472 [GRCh38]
Chr1:245025774 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.235G>A (p.Ala79Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002533495] |
Chr1:244864073 [GRCh38]
Chr1:245027375 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.62A>G (p.Lys21Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002544809] |
Chr1:244864246 [GRCh38]
Chr1:245027548 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.439G>A (p.Asp147Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002532340] |
Chr1:244863869 [GRCh38]
Chr1:245027171 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1117+1G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002533731] |
Chr1:244859274 [GRCh38]
Chr1:245022576 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.516G>C (p.Gln172His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002532246] |
Chr1:244863792 [GRCh38]
Chr1:245027094 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NC_000001.11:g.(?_244854430)_(244864327_?)del |
deletion |
heterogeneous nuclear ribonucleoprotein G, human [RCV000708296] |
Chr1:244854430..244864327 [GRCh38]
Chr1:245017732..245027629 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1629G>A (p.Lys543=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317621] |
Chr1:244856842 [GRCh38]
Chr1:245020144 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.439G>T (p.Asp147Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002318810] |
Chr1:244863869 [GRCh38]
Chr1:245027171 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.691+62del |
deletion |
not provided [RCV001565722] |
Chr1:244863555 [GRCh38]
Chr1:245026857 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1368A>C (p.Glu456Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000767987]|not provided [RCV004777861] |
Chr1:244858137 [GRCh38]
Chr1:245021439 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2168-12C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002569038]|not provided [RCV001567388] |
Chr1:244855620 [GRCh38]
Chr1:245018922 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.692-317C>T |
single nucleotide variant |
not provided [RCV001571454] |
Chr1:244863047 [GRCh38]
Chr1:245026349 [GRCh37]
Chr1:1q44 |
likely benign |
| 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_031844.3(HNRNPU):c.-141C>T |
single nucleotide variant |
not provided [RCV001572382] |
Chr1:244864448 [GRCh38]
Chr1:245027750 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.*286_*287dup |
duplication |
not provided [RCV001583540] |
Chr1:244854162..244854163 [GRCh38]
Chr1:245017464..245017465 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2352+102G>T |
single nucleotide variant |
not provided [RCV001667681] |
Chr1:244855322 [GRCh38]
Chr1:245018624 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1118-30C>A |
single nucleotide variant |
not provided [RCV001668855] |
Chr1:244858871 [GRCh38]
Chr1:245022173 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.2353-114_2353-111del |
microsatellite |
not provided [RCV001534826] |
Chr1:244855155..244855158 [GRCh38]
Chr1:245018457..245018460 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.691+199T>C |
single nucleotide variant |
not provided [RCV001709312] |
Chr1:244863418 [GRCh38]
Chr1:245026720 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.17_33del (p.Val6fs) |
deletion |
not provided [RCV000761713] |
Chr1:244864275..244864291 [GRCh38]
Chr1:245027577..245027593 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.1173_1174del (p.Cys391_Glu392delinsTer) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV000760265] |
Chr1:244858785..244858786 [GRCh38]
Chr1:245022087..245022088 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2352+14A>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002539718]|not provided [RCV001707980] |
Chr1:244855410 [GRCh38]
Chr1:245018712 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1230+47T>C |
single nucleotide variant |
not provided [RCV001566898] |
Chr1:244858682 [GRCh38]
Chr1:245021984 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1996T>C (p.Leu666=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002549865]|not provided [RCV000994328] |
Chr1:244856075 [GRCh38]
Chr1:245019377 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.542A>G (p.Lys181Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002554431]|Inborn genetic diseases [RCV002348440] |
Chr1:244863766 [GRCh38]
Chr1:245027068 [GRCh37]
Chr1:1q44 |
benign|likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.178C>T (p.Leu60=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002549564] |
Chr1:244864130 [GRCh38]
Chr1:245027432 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1566A>G (p.Pro522=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591788] |
Chr1:244857646 [GRCh38]
Chr1:245020948 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.46C>T (p.Leu16=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002544394] |
Chr1:244864262 [GRCh38]
Chr1:245027564 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1575T>C (p.Tyr525=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002538975] |
Chr1:244857637 [GRCh38]
Chr1:245020939 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1118-6T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002539013] |
Chr1:244858847 [GRCh38]
Chr1:245022149 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.492A>G (p.Gln164=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002539089] |
Chr1:244863816 [GRCh38]
Chr1:245027118 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1488T>C (p.Asp496=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002547294] |
Chr1:244858017 [GRCh38]
Chr1:245021319 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1231-5A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591786] |
Chr1:244858279 [GRCh38]
Chr1:245021581 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.282A>G (p.Glu94=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002538977]|not provided [RCV000867126] |
Chr1:244864026 [GRCh38]
Chr1:245027328 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1875G>C (p.Gly625=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591787]|not specified [RCV003987729] |
Chr1:244856494 [GRCh38]
Chr1:245019796 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.222C>G (p.Leu74=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002538998]|Inborn genetic diseases [RCV002427154] |
Chr1:244864086 [GRCh38]
Chr1:245027388 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.878-9T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002536249]|not provided [RCV001644846] |
Chr1:244860483 [GRCh38]
Chr1:245023785 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.2013A>G (p.Glu671=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002542214] |
Chr1:244856058 [GRCh38]
Chr1:245019360 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.507G>C (p.Gln169His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002551378] |
Chr1:244863801 [GRCh38]
Chr1:245027103 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.533G>C (p.Gly178Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002552439]|not provided [RCV002269329] |
Chr1:244863775 [GRCh38]
Chr1:245027077 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.2350C>G (p.Gln784Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002552442] |
Chr1:244855426 [GRCh38]
Chr1:245018728 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.817C>A (p.Gln273Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002553128] |
Chr1:244862521 [GRCh38]
Chr1:245025823 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1214T>C (p.Val405Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002551502]|not provided [RCV003886472] |
Chr1:244858745 [GRCh38]
Chr1:245022047 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2009A>G (p.Lys670Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002551345]|Inborn genetic diseases [RCV002416330] |
Chr1:244856062 [GRCh38]
Chr1:245019364 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1500GAT[2] (p.Met502del) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002552514] |
Chr1:244857704..244857706 [GRCh38]
Chr1:245021006..245021008 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.206G>C (p.Arg69Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002537562]|Inborn genetic diseases [RCV002416113] |
Chr1:244864102 [GRCh38]
Chr1:245027404 [GRCh37]
Chr1:1q44 |
benign|likely benign |
| NM_031844.3(HNRNPU):c.1770G>A (p.Arg590=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002539126] |
Chr1:244856599 [GRCh38]
Chr1:245019901 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1743+4C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002544619] |
Chr1:244856724 [GRCh38]
Chr1:245020026 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.2168-11dup |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV003591815] |
Chr1:244855617..244855618 [GRCh38]
Chr1:245018919..245018920 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1230+8A>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002536256] |
Chr1:244858721 [GRCh38]
Chr1:245022023 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.458G>A (p.Gly153Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002539092]|Inborn genetic diseases [RCV003169170] |
Chr1:244863850 [GRCh38]
Chr1:245027152 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.359C>G (p.Pro120Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002544615] |
Chr1:244863949 [GRCh38]
Chr1:245027251 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1615-10T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002536279] |
Chr1:244856866 [GRCh38]
Chr1:245020168 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.132C>T (p.Asp44=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002544582]|not provided [RCV003413742] |
Chr1:244864176 [GRCh38]
Chr1:245027478 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1018-8A>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002541025] |
Chr1:244859382 [GRCh38]
Chr1:245022684 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2226C>T (p.Gly742=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002546018]|not provided [RCV004711444] |
Chr1:244855550 [GRCh38]
Chr1:245018852 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1216A>G (p.Ile406Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002548444] |
Chr1:244858743 [GRCh38]
Chr1:245022045 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.936A>G (p.Thr312=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591789] |
Chr1:244860416 [GRCh38]
Chr1:245023718 [GRCh37]
Chr1:1q44 |
likely benign |
| GRCh37/hg19 1q43-44(chr1:242150334-246518362) |
copy number loss |
not provided [RCV000767623] |
Chr1:242150334..246518362 [GRCh37]
Chr1:1q43-44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1017+10A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002547290] |
Chr1:244860325 [GRCh38]
Chr1:245023627 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.149G>T (p.Arg50Leu) |
single nucleotide variant |
heterogeneous nuclear ribonucleoprotein G, human [RCV000799202] |
Chr1:244864159 [GRCh38]
Chr1:245027461 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.692-3T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002537455] |
Chr1:244862733 [GRCh38]
Chr1:245026035 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1391A>G (p.Lys464Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002536965] |
Chr1:244858114 [GRCh38]
Chr1:245021416 [GRCh37]
Chr1:1q44 |
benign|uncertain significance |
| NM_031844.3(HNRNPU):c.2285G>A (p.Arg762His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591780]|not provided [RCV003222138] |
Chr1:244855491 [GRCh38]
Chr1:245018793 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1086C>T (p.Gly362=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002538202]|Inborn genetic diseases [RCV002427077] |
Chr1:244859306 [GRCh38]
Chr1:245022608 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.172G>A (p.Gly58Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002537457] |
Chr1:244864136 [GRCh38]
Chr1:245027438 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.622C>G (p.Gln208Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002495107] |
Chr1:244863686 [GRCh38]
Chr1:245026988 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1592A>G (p.Asn531Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002535893] |
Chr1:244857620 [GRCh38]
Chr1:245020922 [GRCh37]
Chr1:1q44 |
uncertain significance |
| GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 |
copy number gain |
not provided [RCV000849904] |
Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44 |
pathogenic |
| NM_031844.3(HNRNPU):c.273GGA[5] (p.Glu93_Glu94dup) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002534887] |
Chr1:244864026..244864027 [GRCh38]
Chr1:245027328..245027329 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.643_644delinsGC (p.Lys215Ala) |
indel |
Developmental and epileptic encephalopathy, 54 [RCV002534753] |
Chr1:244863664..244863665 [GRCh38]
Chr1:245026966..245026967 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.680C>T (p.Ala227Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002536962]|Inborn genetic diseases [RCV002535892]|not provided [RCV001585711] |
Chr1:244863628 [GRCh38]
Chr1:245026930 [GRCh37]
Chr1:1q44 |
likely benign|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 |
| NM_031844.3(HNRNPU):c.418G>A (p.Glu140Lys) |
single nucleotide variant |
not provided [RCV001091232] |
Chr1:244863890 [GRCh38]
Chr1:245027192 [GRCh37]
Chr1:1q44 |
likely pathogenic|likely benign |
| NM_031844.3(HNRNPU):c.554G>T (p.Gly185Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002537376] |
Chr1:244863754 [GRCh38]
Chr1:245027056 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.165del (p.Asn57fs) |
deletion |
not provided [RCV001091233] |
Chr1:244864143 [GRCh38]
Chr1:245027445 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.441C>G (p.Asp147Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002538001]|Inborn genetic diseases [RCV004027962] |
Chr1:244863867 [GRCh38]
Chr1:245027169 [GRCh37]
Chr1:1q44 |
benign|uncertain significance |
| NM_031844.3(HNRNPU):c.2341A>G (p.Asn781Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002534862]|Inborn genetic diseases [RCV002442730] |
Chr1:244855435 [GRCh38]
Chr1:245018737 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NC_000001.11:g.(?_244860315)_(244862750_?)del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003103840] |
Chr1:244860315..244862750 [GRCh38]
Chr1:245023617..245026052 [GRCh37]
Chr1:1q44 |
pathogenic |
| NC_000001.10:g.(?_245017732)_(245020178_?)dup |
duplication |
heterogeneous nuclear ribonucleoprotein G, human [RCV000805912] |
Chr1:244854430..244856876 [GRCh38]
Chr1:245017732..245020178 [GRCh37]
Chr1:1q44 |
pathogenic|uncertain significance |
| NM_031844.3(HNRNPU):c.420A>C (p.Glu140Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002535989]|Inborn genetic diseases [RCV002332723]|not provided [RCV002293490] |
Chr1:244863888 [GRCh38]
Chr1:245027190 [GRCh37]
Chr1:1q44 |
uncertain significance |
| GRCh37/hg19 1q44(chr1:244379481-249224684)x1 |
copy number loss |
not provided [RCV000845861] |
Chr1:244379481..249224684 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.264AGAGGA[3] (p.Glu93_Glu94dup) |
microsatellite |
not provided [RCV000936277] |
Chr1:244864032..244864033 [GRCh38]
Chr1:245027334..245027335 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.318A>G (p.Leu106=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002539063] |
Chr1:244863990 [GRCh38]
Chr1:245027292 [GRCh37]
Chr1:1q44 |
likely benign |
| GRCh37/hg19 1q44(chr1:244991997-245117237)x1 |
copy number loss |
not provided [RCV000848019] |
Chr1:244991997..245117237 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1681dup (p.Gln561fs) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV000986582] |
Chr1:244856789..244856790 [GRCh38]
Chr1:245020091..245020092 [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 |
| NM_031844.3(HNRNPU):c.75_78del (p.Ser26fs) |
deletion |
not provided [RCV001008985] |
Chr1:244864230..244864233 [GRCh38]
Chr1:245027532..245027535 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.470G>A (p.Gly157Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001198003] |
Chr1:244863838 [GRCh38]
Chr1:245027140 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1738G>A (p.Asp580Asn) |
single nucleotide variant |
heterogeneous nuclear ribonucleoprotein G, human [RCV001212687] |
Chr1:244856733 [GRCh38]
Chr1:245020035 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.611G>C (p.Arg204Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002563177] |
Chr1:244863697 [GRCh38]
Chr1:245026999 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2168C>T (p.Ala723Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002561832] |
Chr1:244855608 [GRCh38]
Chr1:245018910 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1282C>G (p.Leu428Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002561841] |
Chr1:244858223 [GRCh38]
Chr1:245021525 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.839A>G (p.Asp280Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002563659] |
Chr1:244862499 [GRCh38]
Chr1:245025801 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.347C>T (p.Ala116Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002568557] |
Chr1:244863961 [GRCh38]
Chr1:245027263 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1244A>G (p.Asp415Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562521] |
Chr1:244858261 [GRCh38]
Chr1:245021563 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.223G>C (p.Glu75Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002561746] |
Chr1:244864085 [GRCh38]
Chr1:245027387 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.455C>T (p.Ala152Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562579] |
Chr1:244863853 [GRCh38]
Chr1:245027155 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.182A>G (p.Asp61Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002564037] |
Chr1:244864126 [GRCh38]
Chr1:245027428 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2464C>T (p.Gln822Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002568692]|Myoclonic absence seizure [RCV001248820] |
Chr1:244854464 [GRCh38]
Chr1:245017766 [GRCh37]
Chr1:1q44 |
benign|likely benign|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 |
| NM_031844.3(HNRNPU):c.415C>T (p.Gln139Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV000986583] |
Chr1:244863893 [GRCh38]
Chr1:245027195 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NC_000001.11:g.244856852_244856858del |
deletion |
not provided [RCV000994329] |
Chr1:244856848..244856854 [GRCh38]
Chr1:245020150..245020156 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.1743G>A (p.Gln581=) |
single nucleotide variant |
not provided [RCV001091231] |
Chr1:244856728 [GRCh38]
Chr1:245020030 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.465G>T (p.Glu155Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001199195] |
Chr1:244863843 [GRCh38]
Chr1:245027145 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.754G>T (p.Asp252Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002568631] |
Chr1:244862668 [GRCh38]
Chr1:245025970 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.490C>T (p.Gln164Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003127464] |
Chr1:244863818 [GRCh38]
Chr1:245027120 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.245del (p.Gly82fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003230306] |
Chr1:244864063 [GRCh38]
Chr1:245027365 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.590C>T (p.Thr197Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003233258] |
Chr1:244863718 [GRCh38]
Chr1:245027020 [GRCh37]
Chr1:1q44 |
not provided |
| NC_000001.11:g.244864715T>G |
single nucleotide variant |
not provided [RCV001641787] |
Chr1:244864715 [GRCh38]
Chr1:245028017 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.878-94G>C |
single nucleotide variant |
not provided [RCV001570854] |
Chr1:244860568 [GRCh38]
Chr1:245023870 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1271A>G (p.Asn424Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003104363] |
Chr1:244858234 [GRCh38]
Chr1:245021536 [GRCh37]
Chr1:1q44 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_031844.3(HNRNPU):c.1017+272G>A |
single nucleotide variant |
not provided [RCV001671512] |
Chr1:244860063 [GRCh38]
Chr1:245023365 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.*287del |
deletion |
not provided [RCV001588644] |
Chr1:244854163 [GRCh38]
Chr1:245017465 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.691+196_691+197insGCGT |
insertion |
not provided [RCV001714849] |
Chr1:244863420..244863421 [GRCh38]
Chr1:245026722..245026723 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1801C>T (p.Arg601Ter) |
single nucleotide variant |
not provided [RCV001543485] |
Chr1:244856568 [GRCh38]
Chr1:245019870 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.1017+50T>A |
single nucleotide variant |
not provided [RCV001534361] |
Chr1:244860285 [GRCh38]
Chr1:245023587 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.691+196GT[15] |
microsatellite |
not provided [RCV001596475] |
Chr1:244863395..244863396 [GRCh38]
Chr1:245026697..245026698 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1230+125del |
deletion |
not provided [RCV001593447] |
Chr1:244858604 [GRCh38]
Chr1:245021906 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.877+47T>G |
single nucleotide variant |
not provided [RCV001682287] |
Chr1:244862414 [GRCh38]
Chr1:245025716 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1494+21del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003591885]|not provided [RCV001667088] |
Chr1:244857990 [GRCh38]
Chr1:245021292 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1017+137TC[2] |
microsatellite |
not provided [RCV001556862] |
Chr1:244860193..244860194 [GRCh38]
Chr1:245023495..245023496 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.691+196GT[12] |
microsatellite |
not provided [RCV001717598] |
Chr1:244863396..244863397 [GRCh38]
Chr1:245026698..245026699 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1615-127A>G |
single nucleotide variant |
not provided [RCV001717600] |
Chr1:244856983 [GRCh38]
Chr1:245020285 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.2424+16T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002539722]|not provided [RCV001710429] |
Chr1:244854957 [GRCh38]
Chr1:245018259 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.2269C>T (p.Pro757Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002570804]|not provided [RCV001575572] |
Chr1:244855507 [GRCh38]
Chr1:245018809 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.551C>G (p.Ala184Gly) |
single nucleotide variant |
not provided [RCV001532110] |
Chr1:244863757 [GRCh38]
Chr1:245027059 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1231-200T>A |
single nucleotide variant |
not provided [RCV001620689] |
Chr1:244858474 [GRCh38]
Chr1:245021776 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.691+196GT[14] |
microsatellite |
not provided [RCV001686158] |
Chr1:244863395..244863396 [GRCh38]
Chr1:245026697..245026698 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.878-69G>A |
single nucleotide variant |
not provided [RCV001587925] |
Chr1:244860543 [GRCh38]
Chr1:245023845 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.375G>C (p.Glu125Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002568393]|not provided [RCV001559672] |
Chr1:244863933 [GRCh38]
Chr1:245027235 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2184C>T (p.Gly728=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002538971] |
Chr1:244855592 [GRCh38]
Chr1:245018894 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1182A>G (p.Glu394=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002538976] |
Chr1:244858777 [GRCh38]
Chr1:245022079 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1183G>C (p.Asp395His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002542209]|Inborn genetic diseases [RCV003372917] |
Chr1:244858776 [GRCh38]
Chr1:245022078 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.908G>T (p.Arg303Ile) |
single nucleotide variant |
heterogeneous nuclear ribonucleoprotein G, human [RCV001500647] |
Chr1:244860444 [GRCh38]
Chr1:245023746 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001333298]|Inborn genetic diseases [RCV002536246]|not provided [RCV003413679] |
Chr1:244858231 [GRCh38]
Chr1:245021533 [GRCh37]
Chr1:1q44 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_031844.3(HNRNPU):c.1200TGA[1] (p.Asp401del) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002539457] |
Chr1:244858754..244858756 [GRCh38]
Chr1:245022056..245022058 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1794C>T (p.Gly598=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002538916]|Inborn genetic diseases [RCV002399865] |
Chr1:244856575 [GRCh38]
Chr1:245019877 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1260G>A (p.Ser420=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002549557] |
Chr1:244858245 [GRCh38]
Chr1:245021547 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.374A>C (p.Glu125Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757206]|Inborn genetic diseases [RCV002363473]|not provided [RCV000954016] |
Chr1:244863934 [GRCh38]
Chr1:245027236 [GRCh37]
Chr1:1q44 |
benign|likely benign |
| NM_031844.3(HNRNPU):c.2083A>G (p.Ser695Gly) |
single nucleotide variant |
heterogeneous nuclear ribonucleoprotein G, human [RCV001446925] |
Chr1:244855988 [GRCh38]
Chr1:245019290 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1413A>G (p.Glu471=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002545923] |
Chr1:244858092 [GRCh38]
Chr1:245021394 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.423G>T (p.Gly141=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002564021] |
Chr1:244863885 [GRCh38]
Chr1:245027187 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.361A>G (p.Met121Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002563681] |
Chr1:244863947 [GRCh38]
Chr1:245027249 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.804-3C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562422] |
Chr1:244862537 [GRCh38]
Chr1:245025839 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1106G>C (p.Gly369Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002563661] |
Chr1:244859286 [GRCh38]
Chr1:245022588 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1208A>C (p.Asn403Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002540861]|not provided [RCV001692322] |
Chr1:244858751 [GRCh38]
Chr1:245022053 [GRCh37]
Chr1:1q44 |
benign|likely benign |
| NM_031844.3(HNRNPU):c.1926C>T (p.Leu642=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002540823] |
Chr1:244856145 [GRCh38]
Chr1:245019447 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.495G>A (p.Pro165=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591811]|not provided [RCV004711419] |
Chr1:244863813 [GRCh38]
Chr1:245027115 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.279G>A (p.Glu93=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002542281] |
Chr1:244864029 [GRCh38]
Chr1:245027331 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.691+126G>T |
single nucleotide variant |
not provided [RCV001570105] |
Chr1:244863491 [GRCh38]
Chr1:245026793 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2045A>G (p.Lys682Arg) |
single nucleotide variant |
HNRNPU-related developmental and epileptic encephalopathy [RCV001563612] |
Chr1:244856026 [GRCh38]
Chr1:245019328 [GRCh37]
Chr1:1q44 |
uncertain significance |
| GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3 |
copy number gain |
not provided [RCV002472628] |
Chr1:243258050..249224684 [GRCh37]
Chr1:1q43-44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1017+117A>G |
single nucleotide variant |
not provided [RCV001566260] |
Chr1:244860218 [GRCh38]
Chr1:245023520 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2119A>G (p.Arg707Gly) |
single nucleotide variant |
not provided [RCV001556188] |
Chr1:244855952 [GRCh38]
Chr1:245019254 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1615-209C>T |
single nucleotide variant |
not provided [RCV001596762] |
Chr1:244857065 [GRCh38]
Chr1:245020367 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1912+35T>A |
single nucleotide variant |
not provided [RCV001550747] |
Chr1:244856422 [GRCh38]
Chr1:245019724 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.421G>A (p.Gly141Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002472219] |
Chr1:244863887 [GRCh38]
Chr1:245027189 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.61A>G (p.Lys21Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002466336] |
Chr1:244864247 [GRCh38]
Chr1:245027549 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| GRCh37/hg19 1q43-44(chr1:242483182-245087048)x1 |
copy number loss |
not provided [RCV001005203] |
Chr1:242483182..245087048 [GRCh37]
Chr1:1q43-44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1614+337A>G |
single nucleotide variant |
not provided [RCV001596622] |
Chr1:244857261 [GRCh38]
Chr1:245020563 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.877+70G>A |
single nucleotide variant |
not provided [RCV001659439] |
Chr1:244862391 [GRCh38]
Chr1:245025693 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.691+196GT[11] |
microsatellite |
not provided [RCV001597935] |
Chr1:244863396..244863399 [GRCh38]
Chr1:245026698..245026701 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.691+187CG[6] |
microsatellite |
not provided [RCV001677648] |
Chr1:244863420..244863421 [GRCh38]
Chr1:245026722..245026723 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1615-288_1615-285del |
deletion |
not provided [RCV001590372] |
Chr1:244857141..244857144 [GRCh38]
Chr1:245020443..245020446 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2168-1G>T |
single nucleotide variant |
not provided [RCV001590419] |
Chr1:244855609 [GRCh38]
Chr1:245018911 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1117+153G>A |
single nucleotide variant |
not provided [RCV001688699] |
Chr1:244859122 [GRCh38]
Chr1:245022424 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.691+197T>C |
single nucleotide variant |
not provided [RCV001718335] |
Chr1:244863420 [GRCh38]
Chr1:245026722 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1495-113G>C |
single nucleotide variant |
not provided [RCV001718321] |
Chr1:244857830 [GRCh38]
Chr1:245021132 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1120GAA[2] (p.Glu376del) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV003771772]|not provided [RCV001591532] |
Chr1:244858831..244858833 [GRCh38]
Chr1:245022133..245022135 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2266G>C (p.Ala756Pro) |
single nucleotide variant |
not provided [RCV001091229] |
Chr1:244855510 [GRCh38]
Chr1:245018812 [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 |
| NM_031844.3(HNRNPU):c.803+11C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002539582]|not provided [RCV001649631] |
Chr1:244862608 [GRCh38]
Chr1:245025910 [GRCh37]
Chr1:1q44 |
benign |
| GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 |
copy number gain |
See cases [RCV001194578] |
Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2167+39C>A |
single nucleotide variant |
not provided [RCV001694870] |
Chr1:244855865 [GRCh38]
Chr1:245019167 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.133G>C (p.Glu45Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001169993] |
Chr1:244864175 [GRCh38]
Chr1:245027477 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1017+326C>T |
single nucleotide variant |
not provided [RCV001681867] |
Chr1:244860009 [GRCh38]
Chr1:245023311 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1495-132C>T |
single nucleotide variant |
not provided [RCV001583186] |
Chr1:244857849 [GRCh38]
Chr1:245021151 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1117+24T>G |
single nucleotide variant |
not provided [RCV001713478] |
Chr1:244859251 [GRCh38]
Chr1:245022553 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.877+71T>A |
single nucleotide variant |
not provided [RCV001651559] |
Chr1:244862390 [GRCh38]
Chr1:245025692 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.*287dup |
duplication |
not provided [RCV001695831] |
Chr1:244854162..244854163 [GRCh38]
Chr1:245017464..245017465 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.-41G>A |
single nucleotide variant |
not provided [RCV001651942] |
Chr1:244864348 [GRCh38]
Chr1:245027650 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.651_660dup (p.Gly221fs) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV002246157]|not provided [RCV001528287] |
Chr1:244863647..244863648 [GRCh38]
Chr1:245026949..245026950 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.622C>T (p.Gln208Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001261515] |
Chr1:244863686 [GRCh38]
Chr1:245026988 [GRCh37]
Chr1:1q44 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_031844.3(HNRNPU):c.1491_1492dup (p.Glu498fs) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002563835] |
Chr1:244858012..244858013 [GRCh38]
Chr1:245021314..245021315 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.608C>A (p.Ala203Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003103900] |
Chr1:244863700 [GRCh38]
Chr1:245027002 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1852C>T (p.Gln618Ter) |
single nucleotide variant |
not provided [RCV001091230] |
Chr1:244856517 [GRCh38]
Chr1:245019819 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.596C>T (p.Ala199Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002554597] |
Chr1:244863712 [GRCh38]
Chr1:245027014 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1292C>G (p.Ala431Gly) |
single nucleotide variant |
heterogeneous nuclear ribonucleoprotein G, human [RCV001050542] |
Chr1:244858213 [GRCh38]
Chr1:245021515 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.374_375delinsCC (p.Glu125Ala) |
indel |
Developmental and epileptic encephalopathy, 54 [RCV003591831]|Inborn genetic diseases [RCV002346236]|not provided [RCV003442151] |
Chr1:244863933..244863934 [GRCh38]
Chr1:245027235..245027236 [GRCh37]
Chr1:1q44 |
benign|likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.255GGA[2] (p.Glu94del) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002561803] |
Chr1:244864045..244864047 [GRCh38]
Chr1:245027347..245027349 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1954A>G (p.Ile652Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002563150] |
Chr1:244856117 [GRCh38]
Chr1:245019419 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1664del (p.Leu555fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV001254678] |
Chr1:244856807 [GRCh38]
Chr1:245020109 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.575C>A (p.Ser192Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001254081] |
Chr1:244863733 [GRCh38]
Chr1:245027035 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1085del (p.Gly362fs) |
deletion |
Inborn genetic diseases [RCV001266228] |
Chr1:244859307 [GRCh38]
Chr1:245022609 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1502T>G (p.Met501Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV001267167] |
Chr1:244857710 [GRCh38]
Chr1:245021012 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.817C>T (p.Gln273Ter) |
single nucleotide variant |
not provided [RCV002284884] |
Chr1:244862521 [GRCh38]
Chr1:245025823 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1189G>A (p.Gly397Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV004799278]|Inborn genetic diseases [RCV002339695] |
Chr1:244858770 [GRCh38]
Chr1:245022072 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2425-2A>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001293774] |
Chr1:244854505 [GRCh38]
Chr1:245017807 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.541A>G (p.Lys181Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001333299] |
Chr1:244863767 [GRCh38]
Chr1:245027069 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1086del (p.Trp363fs) |
deletion |
Inborn genetic diseases [RCV001266229] |
Chr1:244859306 [GRCh38]
Chr1:245022608 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2288dup (p.Gly763_Ser764insTer) |
duplication |
Intellectual disability [RCV001260726] |
Chr1:244855487..244855488 [GRCh38]
Chr1:245018789..245018790 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1913-1G>A |
single nucleotide variant |
not provided [RCV001268566] |
Chr1:244856159 [GRCh38]
Chr1:245019461 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1016A>C (p.Lys339Thr) |
single nucleotide variant |
Intellectual disability [RCV001260725] |
Chr1:244860336 [GRCh38]
Chr1:245023638 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.469G>C (p.Gly157Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002543511] |
Chr1:244863839 [GRCh38]
Chr1:245027141 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.2168-9_2168-5del |
deletion |
heterogeneous nuclear ribonucleoprotein G, human [RCV001342016] |
Chr1:244855613..244855617 [GRCh38]
Chr1:245018915..245018919 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1035A>G (p.Pro345=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003103953] |
Chr1:244859357 [GRCh38]
Chr1:245022659 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2232_2240del (p.Ser746_Gly748del) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002543085] |
Chr1:244855536..244855544 [GRCh38]
Chr1:245018838..245018846 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2227G>A (p.Gly743Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002547524]|not provided [RCV003886504] |
Chr1:244855549 [GRCh38]
Chr1:245018851 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1543A>G (p.Thr515Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002546077] |
Chr1:244857669 [GRCh38]
Chr1:245020971 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2164_2165dup (p.Ala723fs) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV003103950] |
Chr1:244855905..244855906 [GRCh38]
Chr1:245019207..245019208 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.637AAG[2] (p.Lys215del) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002546173] |
Chr1:244863663..244863665 [GRCh38]
Chr1:245026965..245026967 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.621G>C (p.Gln207His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003106203] |
Chr1:244863687 [GRCh38]
Chr1:245026989 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1429C>T (p.Gln477Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591851]|not provided [RCV001269842] |
Chr1:244858076 [GRCh38]
Chr1:245021378 [GRCh37]
Chr1:1q44 |
pathogenic|likely pathogenic |
| NM_031844.3(HNRNPU):c.659G>T (p.Gly220Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002550122]|not provided [RCV003320835] |
Chr1:244863649 [GRCh38]
Chr1:245026951 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.568C>G (p.Pro190Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002552692]|Inborn genetic diseases [RCV002350753] |
Chr1:244863740 [GRCh38]
Chr1:245027042 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1451G>A (p.Arg484Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002548543]|not provided [RCV001810039] |
Chr1:244858054 [GRCh38]
Chr1:245021356 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.211G>C (p.Gly71Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002538477] |
Chr1:244864097 [GRCh38]
Chr1:245027399 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1324C>T (p.Arg442Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002547416] |
Chr1:244858181 [GRCh38]
Chr1:245021483 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.317T>C (p.Leu106Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002543161]|not specified [RCV004770026] |
Chr1:244863991 [GRCh38]
Chr1:245027293 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.301G>C (p.Gly101Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002541914] |
Chr1:244864007 [GRCh38]
Chr1:245027309 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NC_000001.10:g.(?_245017752)_(245027609_?)dup |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV003120551]|heterogeneous nuclear ribonucleoprotein G, human [RCV001324074] |
Chr1:245017752..245027609 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1424T>G (p.Phe475Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003104033] |
Chr1:244858081 [GRCh38]
Chr1:245021383 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1169A>C (p.Asn390Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003103963] |
Chr1:244858790 [GRCh38]
Chr1:245022092 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.683C>G (p.Pro228Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002544991]|Inborn genetic diseases [RCV004036367] |
Chr1:244863625 [GRCh38]
Chr1:245026927 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.302G>A (p.Gly101Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003103975] |
Chr1:244864006 [GRCh38]
Chr1:245027308 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.601C>T (p.Pro201Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002538439] |
Chr1:244863707 [GRCh38]
Chr1:245027009 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.457G>C (p.Gly153Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002547386] |
Chr1:244863851 [GRCh38]
Chr1:245027153 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1826A>G (p.Lys609Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001329454]|Inborn genetic diseases [RCV002412051] |
Chr1:244856543 [GRCh38]
Chr1:245019845 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.441C>A (p.Asp147Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002547849] |
Chr1:244863867 [GRCh38]
Chr1:245027169 [GRCh37]
Chr1:1q44 |
uncertain significance |
| GRCh37/hg19 1q44(chr1:244811325-245725982)x1 |
copy number loss |
not provided [RCV001537902] |
Chr1:244811325..245725982 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1421C>A (p.Thr474Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001329907] |
Chr1:244858084 [GRCh38]
Chr1:245021386 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.878-3C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003103952] |
Chr1:244860477 [GRCh38]
Chr1:245023779 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.803G>A (p.Arg268Lys) |
single nucleotide variant |
not provided [RCV001281584] |
Chr1:244862619 [GRCh38]
Chr1:245025921 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.1282del (p.Gly429fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV001374422] |
Chr1:244858223 [GRCh38]
Chr1:245021525 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.143_149del (p.Gly48fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV001374423] |
Chr1:244864159..244864165 [GRCh38]
Chr1:245027461..245027467 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.394A>G (p.Asn132Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002543184] |
Chr1:244863914 [GRCh38]
Chr1:245027216 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1825A>G (p.Lys609Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002543098] |
Chr1:244856544 [GRCh38]
Chr1:245019846 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1458A>G (p.Arg486=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002552684] |
Chr1:244858047 [GRCh38]
Chr1:245021349 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.998A>C (p.Lys333Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002545069] |
Chr1:244860354 [GRCh38]
Chr1:245023656 [GRCh37]
Chr1:1q44 |
uncertain significance |
| GRCh37/hg19 1q43-44(chr1:240554955-247342593) |
copy number loss |
Corpus callosum, agenesis of [RCV001352645] |
Chr1:240554955..247342593 [GRCh37]
Chr1:1q43-44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2425-7C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562637] |
Chr1:244854510 [GRCh38]
Chr1:245017812 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.849C>T (p.Phe283=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002563279] |
Chr1:244862489 [GRCh38]
Chr1:245025791 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1404A>G (p.Pro468=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002555197] |
Chr1:244858101 [GRCh38]
Chr1:245021403 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1260G>T (p.Ser420=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002560365] |
Chr1:244858245 [GRCh38]
Chr1:245021547 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2313C>T (p.Tyr771=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562008]|Inborn genetic diseases [RCV002432339] |
Chr1:244855463 [GRCh38]
Chr1:245018765 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1913-7C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002555539] |
Chr1:244856165 [GRCh38]
Chr1:245019467 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2043G>A (p.Lys681=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003104116] |
Chr1:244856028 [GRCh38]
Chr1:245019330 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1487A>G (p.Asp496Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002560380] |
Chr1:244858018 [GRCh38]
Chr1:245021320 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.705A>G (p.Thr235=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002561986] |
Chr1:244862717 [GRCh38]
Chr1:245026019 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1157dup (p.Thr388fs) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV003104073] |
Chr1:244858801..244858802 [GRCh38]
Chr1:245022103..245022104 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.615G>A (p.Gln205=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002563265] |
Chr1:244863693 [GRCh38]
Chr1:245026995 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.603C>T (p.Pro201=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002564179] |
Chr1:244863705 [GRCh38]
Chr1:245027007 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2403C>T (p.Gly801=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002564137] |
Chr1:244854994 [GRCh38]
Chr1:245018296 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1785G>A (p.Leu595=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002560305] |
Chr1:244856584 [GRCh38]
Chr1:245019886 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.316C>T (p.Leu106=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002553986] |
Chr1:244863992 [GRCh38]
Chr1:245027294 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.234C>G (p.Ala78=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002559305] |
Chr1:244864074 [GRCh38]
Chr1:245027376 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.803+2T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002550961] |
Chr1:244862617 [GRCh38]
Chr1:245025919 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.1744-37T>C |
single nucleotide variant |
not provided [RCV001582028] |
Chr1:244856662 [GRCh38]
Chr1:245019964 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1615-8G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002560308] |
Chr1:244856864 [GRCh38]
Chr1:245020166 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1188T>C (p.Tyr396=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002553999] |
Chr1:244858771 [GRCh38]
Chr1:245022073 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1118-1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002550245] |
Chr1:244858842 [GRCh38]
Chr1:245022144 [GRCh37]
Chr1:1q44 |
pathogenic|likely pathogenic |
| NM_031844.3(HNRNPU):c.1590A>G (p.Thr530=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002560313] |
Chr1:244857622 [GRCh38]
Chr1:245020924 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1548A>G (p.Lys516=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002554010] |
Chr1:244857664 [GRCh38]
Chr1:245020966 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2291_2294dup (p.Tyr765Ter) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV003104068] |
Chr1:244855481..244855482 [GRCh38]
Chr1:245018783..245018784 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.561C>T (p.Ser187=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002553405] |
Chr1:244863747 [GRCh38]
Chr1:245027049 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.927T>C (p.Ser309=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003104103] |
Chr1:244860425 [GRCh38]
Chr1:245023727 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1287C>T (p.Gly429=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002553424]|Inborn genetic diseases [RCV002384590] |
Chr1:244858218 [GRCh38]
Chr1:245021520 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.562_577del (p.Ser188fs) |
deletion |
heterogeneous nuclear ribonucleoprotein G, human [RCV001387637] |
Chr1:244863731..244863746 [GRCh38]
Chr1:245027033..245027048 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2168-1del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003104057] |
Chr1:244855609 [GRCh38]
Chr1:245018911 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.81C>T (p.Asp27=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002554022] |
Chr1:244864227 [GRCh38]
Chr1:245027529 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2375A>G (p.Asn792Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002551609] |
Chr1:244855022 [GRCh38]
Chr1:245018324 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1422T>G (p.Thr474=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002555146] |
Chr1:244858083 [GRCh38]
Chr1:245021385 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.402C>T (p.Asp134=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002563324]|not provided [RCV004809650] |
Chr1:244863906 [GRCh38]
Chr1:245027208 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1119T>G (p.Gly373=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002560372] |
Chr1:244858840 [GRCh38]
Chr1:245022142 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1118-9T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003104136] |
Chr1:244858850 [GRCh38]
Chr1:245022152 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1350C>T (p.Cys450=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002564135] |
Chr1:244858155 [GRCh38]
Chr1:245021457 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2334C>T (p.Asn778=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002561987] |
Chr1:244855442 [GRCh38]
Chr1:245018744 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2052C>T (p.Asn684=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002561931] |
Chr1:244856019 [GRCh38]
Chr1:245019321 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.129C>T (p.Asp43=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562661]|Inborn genetic diseases [RCV002384780] |
Chr1:244864179 [GRCh38]
Chr1:245027481 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1968A>G (p.Glu656=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002561260] |
Chr1:244856103 [GRCh38]
Chr1:245019405 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.390C>T (p.Asp130=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562645] |
Chr1:244863918 [GRCh38]
Chr1:245027220 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.914G>A (p.Arg305His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001650487] |
Chr1:244860438 [GRCh38]
Chr1:245023740 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.813T>G (p.Ser271=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002561286] |
Chr1:244862525 [GRCh38]
Chr1:245025827 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1929A>C (p.Pro643=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002561268] |
Chr1:244856142 [GRCh38]
Chr1:245019444 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1614+7A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562649] |
Chr1:244857591 [GRCh38]
Chr1:245020893 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1893T>C (p.His631=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002555562]|Inborn genetic diseases [RCV002414046] |
Chr1:244856476 [GRCh38]
Chr1:245019778 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1743+8G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002560348] |
Chr1:244856720 [GRCh38]
Chr1:245020022 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.30G>A (p.Lys10=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002555103] |
Chr1:244864278 [GRCh38]
Chr1:245027580 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.531C>A (p.Arg177=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002510765]|Inborn genetic diseases [RCV002350849] |
Chr1:244863777 [GRCh38]
Chr1:245027079 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1744-11dup |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV002568035] |
Chr1:244856629..244856630 [GRCh38]
Chr1:245019931..245019932 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.2059T>C (p.Ser687Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003104121] |
Chr1:244856012 [GRCh38]
Chr1:245019314 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1325G>A (p.Arg442Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002608028] |
Chr1:244858180 [GRCh38]
Chr1:245021482 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1654C>T (p.Leu552=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002553431]|Inborn genetic diseases [RCV002404954] |
Chr1:244856817 [GRCh38]
Chr1:245020119 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.609G>A (p.Ala203=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002555520] |
Chr1:244863699 [GRCh38]
Chr1:245027001 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.804-7C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002555164] |
Chr1:244862541 [GRCh38]
Chr1:245025843 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.384G>A (p.Ser128=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002555518]|Inborn genetic diseases [RCV002368329] |
Chr1:244863924 [GRCh38]
Chr1:245027226 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2256_2260del (p.Tyr753fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003104066] |
Chr1:244855516..244855520 [GRCh38]
Chr1:245018818..245018822 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1395A>G (p.Pro465=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002555542] |
Chr1:244858110 [GRCh38]
Chr1:245021412 [GRCh37]
Chr1:1q44 |
likely benign|conflicting interpretations of pathogenicity |
| NM_031844.3(HNRNPU):c.1338G>T (p.Pro446=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003104076] |
Chr1:244858167 [GRCh38]
Chr1:245021469 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.603C>G (p.Pro201=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562644] |
Chr1:244863705 [GRCh38]
Chr1:245027007 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1357T>G (p.Cys453Gly) |
single nucleotide variant |
Autism spectrum disorder [RCV003127463] |
Chr1:244858148 [GRCh38]
Chr1:245021450 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1743+5del |
deletion |
not provided [RCV001726800] |
Chr1:244856723 [GRCh38]
Chr1:245020025 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.453C>T (p.Gly151=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591887]|not provided [RCV001726802] |
Chr1:244863855 [GRCh38]
Chr1:245027157 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1060_1061del (p.Asp353_Ile354insTer) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV003314012]|not provided [RCV001726801] |
Chr1:244859331..244859332 [GRCh38]
Chr1:245022633..245022634 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1900C>T (p.Leu634Phe) |
single nucleotide variant |
not specified [RCV002247892] |
Chr1:244856469 [GRCh38]
Chr1:245019771 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.266_283dup (p.Glu89_Glu94dup) |
duplication |
not provided [RCV001763438] |
Chr1:244864024..244864025 [GRCh38]
Chr1:245027326..245027327 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1230+1G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001785352] |
Chr1:244858728 [GRCh38]
Chr1:245022030 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.857_858del (p.Thr286fs) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV001782258] |
Chr1:244862480..244862481 [GRCh38]
Chr1:245025782..245025783 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.1544C>T (p.Thr515Ile) |
single nucleotide variant |
not provided [RCV001774310] |
Chr1:244857668 [GRCh38]
Chr1:245020970 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1895C>A (p.Ala632Glu) |
single nucleotide variant |
not provided [RCV001751940] |
Chr1:244856474 [GRCh38]
Chr1:245019776 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1018-13A>G |
single nucleotide variant |
not provided [RCV001763814] |
Chr1:244859387 [GRCh38]
Chr1:245022689 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1411G>A (p.Glu471Lys) |
single nucleotide variant |
not provided [RCV001797220] |
Chr1:244858094 [GRCh38]
Chr1:245021396 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.489T>G (p.Pro163=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002541507]|not provided [RCV001816083] |
Chr1:244863819 [GRCh38]
Chr1:245027121 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.229G>C (p.Glu77Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001809256] |
Chr1:244864079 [GRCh38]
Chr1:245027381 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2351A>C (p.Gln784Pro) |
single nucleotide variant |
not provided [RCV001806511] |
Chr1:244855425 [GRCh38]
Chr1:245018727 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2168-8T>G |
single nucleotide variant |
not provided [RCV001815696] |
Chr1:244855616 [GRCh38]
Chr1:245018918 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1118G>A (p.Gly373Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001808909] |
Chr1:244858841 [GRCh38]
Chr1:245022143 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.508C>T (p.Gln170Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV001822086] |
Chr1:244863800 [GRCh38]
Chr1:245027102 [GRCh37]
Chr1:1q44 |
not provided |
| NM_031844.3(HNRNPU):c.2210dup (p.Gln738fs) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV002561486] |
Chr1:244855565..244855566 [GRCh38]
Chr1:245018867..245018868 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2296T>G (p.Ser766Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002657680] |
Chr1:244855480 [GRCh38]
Chr1:245018782 [GRCh37]
Chr1:1q44 |
benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1958C>T (p.Thr653Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002571241] |
Chr1:244856113 [GRCh38]
Chr1:245019415 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.878-5T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002573397] |
Chr1:244860479 [GRCh38]
Chr1:245023781 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2237G>T (p.Ser746Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002545700] |
Chr1:244855539 [GRCh38]
Chr1:245018841 [GRCh37]
Chr1:1q44 |
benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1010A>C (p.Glu337Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002675446] |
Chr1:244860342 [GRCh38]
Chr1:245023644 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.159G>A (p.Met53Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002551031] |
Chr1:244864149 [GRCh38]
Chr1:245027451 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1441T>A (p.Leu481Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002573391] |
Chr1:244858064 [GRCh38]
Chr1:245021366 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2006dup (p.Tyr669Ter) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV002553556] |
Chr1:244856064..244856065 [GRCh38]
Chr1:245019366..245019367 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2122_2124dup (p.Gly708dup) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV002552870] |
Chr1:244855946..244855947 [GRCh38]
Chr1:245019248..245019249 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.325G>T (p.Glu109Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002557685] |
Chr1:244863983 [GRCh38]
Chr1:245027285 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.520del (p.Gln174fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002052102] |
Chr1:244863788 [GRCh38]
Chr1:245027090 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.1665_1666del (p.Leu556fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV001843994] |
Chr1:244856805..244856806 [GRCh38]
Chr1:245020107..245020108 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV001839359]|not provided [RCV004762196] |
Chr1:244863617..244863639 [GRCh38]
Chr1:245026919..245026941 [GRCh37]
Chr1:1q44 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_031844.3(HNRNPU):c.1378G>A (p.Gly460Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002563605] |
Chr1:244858127 [GRCh38]
Chr1:245021429 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.70C>A (p.Arg24Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002554287] |
Chr1:244864238 [GRCh38]
Chr1:245027540 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.730_731del (p.Arg244fs) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002563628] |
Chr1:244862691..244862692 [GRCh38]
Chr1:245025993..245025994 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2284C>T (p.Arg762Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002560494] |
Chr1:244855492 [GRCh38]
Chr1:245018794 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1089G>T (p.Trp363Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002569167] |
Chr1:244859303 [GRCh38]
Chr1:245022605 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2390dup (p.Asn797fs) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV002548193] |
Chr1:244855006..244855007 [GRCh38]
Chr1:245018308..245018309 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.535GCC[1] (p.Ala180del) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002569319] |
Chr1:244863768..244863770 [GRCh38]
Chr1:245027070..245027072 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.446A>G (p.Glu149Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002563453]|Inborn genetic diseases [RCV002331511] |
Chr1:244863862 [GRCh38]
Chr1:245027164 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2164G>A (p.Gly722Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002548001] |
Chr1:244855907 [GRCh38]
Chr1:245019209 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1744-4A>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002555740] |
Chr1:244856629 [GRCh38]
Chr1:245019931 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.685G>C (p.Ala229Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002592620] |
Chr1:244863623 [GRCh38]
Chr1:245026925 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1238A>G (p.Glu413Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002557657] |
Chr1:244858267 [GRCh38]
Chr1:245021569 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2322_2339del (p.Gly775_Gly780del) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002554338] |
Chr1:244855437..244855454 [GRCh38]
Chr1:245018739..245018756 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.669_691dup (p.Gly231fs) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV002568514]|not provided [RCV003156366] |
Chr1:244863616..244863617 [GRCh38]
Chr1:245026918..245026919 [GRCh37]
Chr1:1q44 |
pathogenic|uncertain significance |
| NM_031844.3(HNRNPU):c.1614+5G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002548709] |
Chr1:244857593 [GRCh38]
Chr1:245020895 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NC_000001.10:g.(?_243578984)_(245027609_?)del |
deletion |
heterogeneous nuclear ribonucleoprotein G, human [RCV001958821] |
Chr1:243578984..245027609 [GRCh37]
Chr1:1q43-44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1168A>G (p.Asn390Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002548707] |
Chr1:244858791 [GRCh38]
Chr1:245022093 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1210G>A (p.Asp404Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002543460] |
Chr1:244858749 [GRCh38]
Chr1:245022051 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.137A>C (p.Glu46Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003330104]|heterogeneous nuclear ribonucleoprotein G, human [RCV001961698] |
Chr1:244864171 [GRCh38]
Chr1:245027473 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.290C>T (p.Ser97Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002553496] |
Chr1:244864018 [GRCh38]
Chr1:245027320 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2252A>G (p.Tyr751Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002571346] |
Chr1:244855524 [GRCh38]
Chr1:245018826 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NC_000001.10:g.(?_243303219)_(245027609_?)dup |
duplication |
Senior-Loken syndrome 7 [RCV002010254]|not provided [RCV002035611] |
Chr1:243303219..245027609 [GRCh37]
Chr1:1q43-44 |
uncertain significance|no classifications from unflagged records |
| NM_031844.3(HNRNPU):c.2167G>A (p.Ala723Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002545881] |
Chr1:244855904 [GRCh38]
Chr1:245019206 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NC_000001.10:g.(?_241661128)_(245027609_?)dup |
duplication |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV004584128] |
Chr1:241661128..245027609 [GRCh37]
Chr1:1q43-44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2175del (p.Asn726fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002592656] |
Chr1:244855601 [GRCh38]
Chr1:245018903 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1743+1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002550445] |
Chr1:244856727 [GRCh38]
Chr1:245020029 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.2138A>G (p.Asn713Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002551073] |
Chr1:244855933 [GRCh38]
Chr1:245019235 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1940A>G (p.Glu647Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002555242] |
Chr1:244856131 [GRCh38]
Chr1:245019433 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.679G>T (p.Ala227Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002547954] |
Chr1:244863629 [GRCh38]
Chr1:245026931 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1180G>C (p.Glu394Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002555612] |
Chr1:244858779 [GRCh38]
Chr1:245022081 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.1030A>G (p.Ile344Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002552126] |
Chr1:244859362 [GRCh38]
Chr1:245022664 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NC_000001.10:g.(?_244214734)_(245027609_?)del |
deletion |
not provided [RCV002048344] |
Chr1:244214734..245027609 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1433A>G (p.Asn478Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002554177] |
Chr1:244858072 [GRCh38]
Chr1:245021374 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1301T>C (p.Ile434Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002545658] |
Chr1:244858204 [GRCh38]
Chr1:245021506 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.548C>T (p.Ala183Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002545325] |
Chr1:244863760 [GRCh38]
Chr1:245027062 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1586G>C (p.Gly529Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002592581] |
Chr1:244857626 [GRCh38]
Chr1:245020928 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.635G>C (p.Gly212Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002545378] |
Chr1:244863673 [GRCh38]
Chr1:245026975 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.565G>A (p.Gly189Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002561559] |
Chr1:244863743 [GRCh38]
Chr1:245027045 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.468C>A (p.Asn156Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002545354] |
Chr1:244863840 [GRCh38]
Chr1:245027142 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.564C>G (p.Ser188Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002555800] |
Chr1:244863744 [GRCh38]
Chr1:245027046 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1934T>A (p.Val645Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562195] |
Chr1:244856137 [GRCh38]
Chr1:245019439 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.804-9_804-8del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003104165] |
Chr1:244862542..244862543 [GRCh38]
Chr1:245025844..245025845 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2168C>G (p.Ala723Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002563509] |
Chr1:244855608 [GRCh38]
Chr1:245018910 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.991A>G (p.Lys331Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002552982] |
Chr1:244860361 [GRCh38]
Chr1:245023663 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NC_000001.10:g.(?_242431558)_(245027609_?)del |
deletion |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV001956278] |
Chr1:242431558..245027609 [GRCh37]
Chr1:1q43-44 |
pathogenic |
| NM_031844.3(HNRNPU):c.916C>T (p.Leu306Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002561433]|Inborn genetic diseases [RCV003348649] |
Chr1:244860436 [GRCh38]
Chr1:245023738 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.523C>A (p.Gln175Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562138] |
Chr1:244863785 [GRCh38]
Chr1:245027087 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.124C>A (p.Leu42Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002642033] |
Chr1:244864184 [GRCh38]
Chr1:245027486 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2347A>T (p.Asn783Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002573378] |
Chr1:244855429 [GRCh38]
Chr1:245018731 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1231-3C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002549074] |
Chr1:244858277 [GRCh38]
Chr1:245021579 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1744-19T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002551624] |
Chr1:244856644 [GRCh38]
Chr1:245019946 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.610A>G (p.Arg204Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002642169] |
Chr1:244863698 [GRCh38]
Chr1:245027000 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.551C>T (p.Ala184Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002556326] |
Chr1:244863757 [GRCh38]
Chr1:245027059 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1230+8A>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003007132] |
Chr1:244858721 [GRCh38]
Chr1:245022023 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.573C>T (p.Thr191=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003081067] |
Chr1:244863735 [GRCh38]
Chr1:245027037 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.375G>A (p.Glu125=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003007049] |
Chr1:244863933 [GRCh38]
Chr1:245027235 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.183C>T (p.Asp61=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003053449] |
Chr1:244864125 [GRCh38]
Chr1:245027427 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.803+16C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003025403] |
Chr1:244862603 [GRCh38]
Chr1:245025905 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.489T>C (p.Pro163=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003007050] |
Chr1:244863819 [GRCh38]
Chr1:245027121 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.591G>C (p.Thr197=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002553690] |
Chr1:244863717 [GRCh38]
Chr1:245027019 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2149G>A (p.Gly717Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003025480] |
Chr1:244855922 [GRCh38]
Chr1:245019224 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1869A>G (p.Val623=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003053374] |
Chr1:244856500 [GRCh38]
Chr1:245019802 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1944C>T (p.Cys648=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002550528] |
Chr1:244856127 [GRCh38]
Chr1:245019429 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.674C>G (p.Pro225Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003025401] |
Chr1:244863634 [GRCh38]
Chr1:245026936 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1494+8A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003053446] |
Chr1:244858003 [GRCh38]
Chr1:245021305 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1905_1906del (p.Lys635fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002250048] |
Chr1:244856463..244856464 [GRCh38]
Chr1:245019765..245019766 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.804-9_804-6del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002250049] |
Chr1:244862540..244862543 [GRCh38]
Chr1:245025842..245025845 [GRCh37]
Chr1:1q44 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_031844.3(HNRNPU):c.223G>T (p.Glu75Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002250050] |
Chr1:244864085 [GRCh38]
Chr1:245027387 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.112C>A (p.Leu38Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002250051] |
Chr1:244864196 [GRCh38]
Chr1:245027498 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.157A>G (p.Met53Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003061717]|Inborn genetic diseases [RCV002391288] |
Chr1:244864151 [GRCh38]
Chr1:245027453 [GRCh37]
Chr1:1q44 |
benign|likely benign |
| NM_031844.3(HNRNPU):c.1922C>G (p.Thr641Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003089016] |
Chr1:244856149 [GRCh38]
Chr1:245019451 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.624G>A (p.Gln208=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003053429] |
Chr1:244863684 [GRCh38]
Chr1:245026986 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.692-14C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003081108] |
Chr1:244862744 [GRCh38]
Chr1:245026046 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.2168-12C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003053400] |
Chr1:244855620 [GRCh38]
Chr1:245018922 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.9C>G (p.Ser3=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002551330] |
Chr1:244864299 [GRCh38]
Chr1:245027601 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2421G>C (p.Gln807His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002561639] |
Chr1:244854976 [GRCh38]
Chr1:245018278 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2168-6T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003015355] |
Chr1:244855614 [GRCh38]
Chr1:245018916 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.2352+12A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003015331] |
Chr1:244855412 [GRCh38]
Chr1:245018714 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1230+20C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003089015] |
Chr1:244858709 [GRCh38]
Chr1:245022011 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2274T>G (p.Val758=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003007065] |
Chr1:244855502 [GRCh38]
Chr1:245018804 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2053A>G (p.Thr685Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002555434]|not provided [RCV004774622] |
Chr1:244856018 [GRCh38]
Chr1:245019320 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.465G>A (p.Glu155=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003053428] |
Chr1:244863843 [GRCh38]
Chr1:245027145 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.715G>A (p.Gly239Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003053382] |
Chr1:244862707 [GRCh38]
Chr1:245026009 [GRCh37]
Chr1:1q44 |
likely benign|conflicting interpretations of pathogenicity |
| NM_031844.3(HNRNPU):c.1319C>G (p.Ala440Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003101212] |
Chr1:244858186 [GRCh38]
Chr1:245021488 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.803+12T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562970] |
Chr1:244862607 [GRCh38]
Chr1:245025909 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.336C>G (p.Ala112=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002551242]|Inborn genetic diseases [RCV002454326] |
Chr1:244863972 [GRCh38]
Chr1:245027274 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.877+16dup |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV002982114] |
Chr1:244862444..244862445 [GRCh38]
Chr1:245025746..245025747 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.519C>G (p.Pro173=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003061716] |
Chr1:244863789 [GRCh38]
Chr1:245027091 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1913-14T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002553715] |
Chr1:244856172 [GRCh38]
Chr1:245019474 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1495-16C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003093828] |
Chr1:244857733 [GRCh38]
Chr1:245021035 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.210G>C (p.Ser70=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003015336] |
Chr1:244864098 [GRCh38]
Chr1:245027400 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1017+8C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002561636] |
Chr1:244860327 [GRCh38]
Chr1:245023629 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.877+12T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003104173] |
Chr1:244862449 [GRCh38]
Chr1:245025751 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.506A>G (p.Gln169Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003007141] |
Chr1:244863802 [GRCh38]
Chr1:245027104 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1221A>G (p.Thr407=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003089012] |
Chr1:244858738 [GRCh38]
Chr1:245022040 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.177C>T (p.Ser59=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003089047] |
Chr1:244864131 [GRCh38]
Chr1:245027433 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.918C>T (p.Leu306=) |
single nucleotide variant |
not provided [RCV002211142] |
Chr1:244860434 [GRCh38]
Chr1:245023736 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.186G>A (p.Leu62=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003025393] |
Chr1:244864122 [GRCh38]
Chr1:245027424 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1743+20T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002993446] |
Chr1:244856708 [GRCh38]
Chr1:245020010 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.692-7G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003007035] |
Chr1:244862737 [GRCh38]
Chr1:245026039 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1230+18T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003053432] |
Chr1:244858711 [GRCh38]
Chr1:245022013 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1495-5A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003061709] |
Chr1:244857722 [GRCh38]
Chr1:245021024 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1913-8T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002552353] |
Chr1:244856166 [GRCh38]
Chr1:245019468 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1578C>T (p.Asn526=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002553031] |
Chr1:244857634 [GRCh38]
Chr1:245020936 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1884A>G (p.Leu628=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003033344] |
Chr1:244856485 [GRCh38]
Chr1:245019787 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1140G>A (p.Gly380=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003107956] |
Chr1:244858819 [GRCh38]
Chr1:245022121 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1495-11C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003070628] |
Chr1:244857728 [GRCh38]
Chr1:245021030 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2353-22_2353-17del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003053378] |
Chr1:244855061..244855066 [GRCh38]
Chr1:245018363..245018368 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2167+15A>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002551245] |
Chr1:244855889 [GRCh38]
Chr1:245019191 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.255GGA[5] (p.Glu93_Glu94dup) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV003089088] |
Chr1:244864044..244864045 [GRCh38]
Chr1:245027346..245027347 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.598C>G (p.Pro200Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002551264] |
Chr1:244863710 [GRCh38]
Chr1:245027012 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.336_353del (p.Ala113_Ser118del) |
deletion |
not specified [RCV002247893] |
Chr1:244863955..244863972 [GRCh38]
Chr1:245027257..245027274 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.878-13G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003006999] |
Chr1:244860487 [GRCh38]
Chr1:245023789 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2353-22AG[2] |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002562297] |
Chr1:244855061..244855062 [GRCh38]
Chr1:245018363..245018364 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1986C>T (p.Ala662=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562301] |
Chr1:244856085 [GRCh38]
Chr1:245019387 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.878-13G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002561583] |
Chr1:244860487 [GRCh38]
Chr1:245023789 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2425-15_2425-14del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003081003] |
Chr1:244854517..244854518 [GRCh38]
Chr1:245017819..245017820 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1803A>T (p.Arg601=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002551305] |
Chr1:244856566 [GRCh38]
Chr1:245019868 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.691+18C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003081030] |
Chr1:244863599 [GRCh38]
Chr1:245026901 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1494+19T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003081099] |
Chr1:244857992 [GRCh38]
Chr1:245021294 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1912+19G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003007115] |
Chr1:244856438 [GRCh38]
Chr1:245019740 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1494+14T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003015293] |
Chr1:244857997 [GRCh38]
Chr1:245021299 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1867G>T (p.Val623Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003033323] |
Chr1:244856502 [GRCh38]
Chr1:245019804 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1495-16_1495-14del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002562298] |
Chr1:244857731..244857733 [GRCh38]
Chr1:245021033..245021035 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1118-18G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003015370] |
Chr1:244858859 [GRCh38]
Chr1:245022161 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1912+18T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003089081] |
Chr1:244856439 [GRCh38]
Chr1:245019741 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.691+8C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562303] |
Chr1:244863609 [GRCh38]
Chr1:245026911 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1053A>G (p.Thr351=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562304] |
Chr1:244859339 [GRCh38]
Chr1:245022641 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2359A>C (p.Arg787=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002553682] |
Chr1:244855038 [GRCh38]
Chr1:245018340 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2168-10T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003081048] |
Chr1:244855618 [GRCh38]
Chr1:245018920 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1744-4A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003053454] |
Chr1:244856629 [GRCh38]
Chr1:245019931 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.165C>T (p.Pro55=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003053455] |
Chr1:244864143 [GRCh38]
Chr1:245027445 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2031T>C (p.Leu677=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003053408] |
Chr1:244856040 [GRCh38]
Chr1:245019342 [GRCh37]
Chr1:1q44 |
likely benign|conflicting interpretations of pathogenicity |
| NM_031844.3(HNRNPU):c.1336C>G (p.Pro446Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002552992] |
Chr1:244858169 [GRCh38]
Chr1:245021471 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.691+10G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002561595] |
Chr1:244863607 [GRCh38]
Chr1:245026909 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2204A>G (p.Asn735Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003081096] |
Chr1:244855572 [GRCh38]
Chr1:245018874 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.2256A>G (p.Pro752=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003089008] |
Chr1:244855520 [GRCh38]
Chr1:245018822 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.891A>G (p.Leu297=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002552988] |
Chr1:244860461 [GRCh38]
Chr1:245023763 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1615-11T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003093813] |
Chr1:244856867 [GRCh38]
Chr1:245020169 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2028T>C (p.Ala676=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002562287] |
Chr1:244856043 [GRCh38]
Chr1:245019345 [GRCh37]
Chr1:1q44 |
likely benign |
| NC_000001.10:g.(?_245025750)_(245027576_?)del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003122819] |
Chr1:245025750..245027576 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.32_35del (p.Leu11fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003153143] |
Chr1:244864273..244864276 [GRCh38]
Chr1:245027575..245027578 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.2353-7T>C |
single nucleotide variant |
See cases [RCV002252822] |
Chr1:244855051 [GRCh38]
Chr1:245018353 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1320_1321del (p.Gly441fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002273907] |
Chr1:244858184..244858185 [GRCh38]
Chr1:245021486..245021487 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2013A>C (p.Glu671Asp) |
single nucleotide variant |
not provided [RCV002262273] |
Chr1:244856058 [GRCh38]
Chr1:245019360 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1930G>T (p.Glu644Ter) |
single nucleotide variant |
See cases [RCV002287777] |
Chr1:244856141 [GRCh38]
Chr1:245019443 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.226C>G (p.Gln76Glu) |
single nucleotide variant |
not provided [RCV002291862] |
Chr1:244864082 [GRCh38]
Chr1:245027384 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.551del (p.Ala184fs) |
deletion |
Neurodevelopmental delay [RCV002274345] |
Chr1:244863757 [GRCh38]
Chr1:245027059 [GRCh37]
Chr1:1q44 |
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 |
| NM_031844.3(HNRNPU):c.1267A>C (p.Lys423Gln) |
single nucleotide variant |
not provided [RCV002262274] |
Chr1:244858238 [GRCh38]
Chr1:245021540 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1137T>C (p.Tyr379=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003775584]|Inborn genetic diseases [RCV002454737] |
Chr1:244858822 [GRCh38]
Chr1:245022124 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1321G>A (p.Gly441Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002385703] |
Chr1:244858184 [GRCh38]
Chr1:245021486 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.270A>G (p.Glu90=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437433] |
Chr1:244864038 [GRCh38]
Chr1:245027340 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.355G>A (p.Gly119Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002454928] |
Chr1:244863953 [GRCh38]
Chr1:245027255 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1193A>C (p.Glu398Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003131153] |
Chr1:244858766 [GRCh38]
Chr1:245022068 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.691+1G>A |
single nucleotide variant |
not provided [RCV003129289] |
Chr1:244863616 [GRCh38]
Chr1:245026918 [GRCh37]
Chr1:1q44 |
uncertain significance |
| GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1 |
copy number loss |
not provided [RCV002474504] |
Chr1:239910960..249224684 [GRCh37]
Chr1:1q43-44 |
pathogenic |
| GRCh37/hg19 1q44(chr1:244960357-245040680)x1 |
copy number loss |
not provided [RCV002472576] |
Chr1:244960357..245040680 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1472C>T (p.Pro491Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002837669] |
Chr1:244858033 [GRCh38]
Chr1:245021335 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1028A>G (p.Lys343Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002472305] |
Chr1:244859364 [GRCh38]
Chr1:245022666 [GRCh37]
Chr1:1q44 |
uncertain significance |
| GRCh37/hg19 1q43-44(chr1:243085543-247137125)x3 |
copy number gain |
not provided [RCV002474542] |
Chr1:243085543..247137125 [GRCh37]
Chr1:1q43-44 |
pathogenic |
| NM_031844.3(HNRNPU):c.325G>C (p.Glu109Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002471375] |
Chr1:244863983 [GRCh38]
Chr1:245027285 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2217_2218del (p.Gly740fs) |
microsatellite |
Inborn genetic diseases [RCV002425937] |
Chr1:244855558..244855559 [GRCh38]
Chr1:245018860..245018861 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2373C>T (p.Asn791=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591959]|Inborn genetic diseases [RCV002457795] |
Chr1:244855024 [GRCh38]
Chr1:245018326 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1170C>A (p.Asn390Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002330190] |
Chr1:244858789 [GRCh38]
Chr1:245022091 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.408G>A (p.Gln136=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591937]|Inborn genetic diseases [RCV002323210] |
Chr1:244863900 [GRCh38]
Chr1:245027202 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2072A>G (p.Asn691Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002422157] |
Chr1:244855999 [GRCh38]
Chr1:245019301 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.310dup (p.Met104fs) |
duplication |
Inborn genetic diseases [RCV002326071] |
Chr1:244863997..244863998 [GRCh38]
Chr1:245027299..245027300 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.789G>A (p.Glu263=) |
single nucleotide variant |
Inborn genetic diseases [RCV002412357] |
Chr1:244862633 [GRCh38]
Chr1:245025935 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1029G>C (p.Lys343Asn) |
single nucleotide variant |
not provided [RCV002308942] |
Chr1:244859363 [GRCh38]
Chr1:245022665 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.592G>T (p.Val198Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002355867] |
Chr1:244863716 [GRCh38]
Chr1:245027018 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1597A>G (p.Ile533Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002398541] |
Chr1:244857615 [GRCh38]
Chr1:245020917 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1298A>G (p.Lys433Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003094930]|Inborn genetic diseases [RCV002380697] |
Chr1:244858207 [GRCh38]
Chr1:245021509 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.848T>A (p.Phe283Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002414387] |
Chr1:244862490 [GRCh38]
Chr1:245025792 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1639del (p.Ala547fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002858053] |
Chr1:244856832 [GRCh38]
Chr1:245020134 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2328G>T (p.Met776Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002616578] |
Chr1:244855448 [GRCh38]
Chr1:245018750 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1744-12C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002861609] |
Chr1:244856637 [GRCh38]
Chr1:245019939 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.324G>A (p.Glu108=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002863118] |
Chr1:244863984 [GRCh38]
Chr1:245027286 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.692-17G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002880684] |
Chr1:244862747 [GRCh38]
Chr1:245026049 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.649G>A (p.Glu217Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003074877] |
Chr1:244863659 [GRCh38]
Chr1:245026961 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.878-12A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002775637] |
Chr1:244860486 [GRCh38]
Chr1:245023788 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.336_351del (p.Ala113fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002842802] |
Chr1:244863957..244863972 [GRCh38]
Chr1:245027259..245027274 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1338G>A (p.Pro446=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003095327] |
Chr1:244858167 [GRCh38]
Chr1:245021469 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2184C>A (p.Gly728=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002837657] |
Chr1:244855592 [GRCh38]
Chr1:245018894 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.906_907del (p.Asp304fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002481166] |
Chr1:244860445..244860446 [GRCh38]
Chr1:245023747..245023748 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.1717AAG[1] (p.Lys574del) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002481167] |
Chr1:244856749..244856751 [GRCh38]
Chr1:245020051..245020053 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.2072del (p.Asn691fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002481170] |
Chr1:244855999 [GRCh38]
Chr1:245019301 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| Single allele |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002481171] |
Chr1:242045197..249212668 [GRCh37]
Chr1:1q43-44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.1394C>G (p.Pro465Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003016622] |
Chr1:244858111 [GRCh38]
Chr1:245021413 [GRCh37]
Chr1:1q44 |
uncertain significance |
| Single allele |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002481172] |
Chr1:244571975..246704522 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.1039A>G (p.Arg347Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002843690] |
Chr1:244859353 [GRCh38]
Chr1:245022655 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2353-17G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003035036] |
Chr1:244855061 [GRCh38]
Chr1:245018363 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1494+5G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002863297] |
Chr1:244858006 [GRCh38]
Chr1:245021308 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.804-14dup |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV002947225] |
Chr1:244862547..244862548 [GRCh38]
Chr1:245025849..245025850 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1230+15A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003075681] |
Chr1:244858714 [GRCh38]
Chr1:245022016 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.994G>A (p.Gly332Ser) |
single nucleotide variant |
not provided [RCV002461805] |
Chr1:244860358 [GRCh38]
Chr1:245023660 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.144G>A (p.Gly48=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002618634] |
Chr1:244864164 [GRCh38]
Chr1:245027466 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.55G>C (p.Glu19Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003011978] |
Chr1:244864253 [GRCh38]
Chr1:245027555 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.503C>T (p.Thr168Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002848086]|Inborn genetic diseases [RCV002880411] |
Chr1:244863805 [GRCh38]
Chr1:245027107 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1716A>G (p.Arg572=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002971075] |
Chr1:244856755 [GRCh38]
Chr1:245020057 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2342A>C (p.Asn781Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002839249] |
Chr1:244855434 [GRCh38]
Chr1:245018736 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1881C>G (p.Asp627Glu) |
single nucleotide variant |
not provided [RCV002511623] |
Chr1:244856488 [GRCh38]
Chr1:245019790 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.291C>T (p.Ser97=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002750228] |
Chr1:244864017 [GRCh38]
Chr1:245027319 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1962T>C (p.Tyr654=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002908562] |
Chr1:244856109 [GRCh38]
Chr1:245019411 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2236A>G (p.Ser746Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002819891] |
Chr1:244855540 [GRCh38]
Chr1:245018842 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1494+19T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002993552] |
Chr1:244857992 [GRCh38]
Chr1:245021294 [GRCh37]
Chr1:1q44 |
likely benign |
| GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 |
copy number gain |
not provided [RCV002475745] |
Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44 |
pathogenic |
| NM_031844.3(HNRNPU):c.7T>A (p.Ser3Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002777295] |
Chr1:244864301 [GRCh38]
Chr1:245027603 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1421C>T (p.Thr474Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002686780] |
Chr1:244858084 [GRCh38]
Chr1:245021386 [GRCh37]
Chr1:1q44 |
likely benign |
| Single allele |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002481168] |
Chr1:245009334..245027394 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.2425-3C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002481169] |
Chr1:244854506 [GRCh38]
Chr1:245017808 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.2374A>C (p.Asn792His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002976124]|not provided [RCV003418690] |
Chr1:244855023 [GRCh38]
Chr1:245018325 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.803+14A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003002799] |
Chr1:244862605 [GRCh38]
Chr1:245025907 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1958C>G (p.Thr653Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002621196] |
Chr1:244856113 [GRCh38]
Chr1:245019415 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.81C>A (p.Asp27Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002843938] |
Chr1:244864227 [GRCh38]
Chr1:245027529 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1017+18A>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002640568] |
Chr1:244860317 [GRCh38]
Chr1:245023619 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1746A>C (p.Thr582=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002847109] |
Chr1:244856623 [GRCh38]
Chr1:245019925 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1071T>C (p.His357=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002999936] |
Chr1:244859321 [GRCh38]
Chr1:245022623 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.734_738dup (p.Lys247fs) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV003038131] |
Chr1:244862683..244862684 [GRCh38]
Chr1:245025985..245025986 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1810G>A (p.Val604Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002759348] |
Chr1:244856559 [GRCh38]
Chr1:245019861 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.370G>C (p.Glu124Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002823696] |
Chr1:244863938 [GRCh38]
Chr1:245027240 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1470G>C (p.Gly490=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002976581] |
Chr1:244858035 [GRCh38]
Chr1:245021337 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1615-13C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002847157] |
Chr1:244856869 [GRCh38]
Chr1:245020171 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1744-13del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003037670] |
Chr1:244856638 [GRCh38]
Chr1:245019940 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1995C>A (p.Leu665=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002848223] |
Chr1:244856076 [GRCh38]
Chr1:245019378 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.583G>A (p.Ala195Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002761478] |
Chr1:244863725 [GRCh38]
Chr1:245027027 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1231-7G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002796407] |
Chr1:244858281 [GRCh38]
Chr1:245021583 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2394A>G (p.Gln798=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002953334] |
Chr1:244855003 [GRCh38]
Chr1:245018305 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.220C>G (p.Leu74Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002910674] |
Chr1:244864088 [GRCh38]
Chr1:245027390 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.803+14A>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002639037] |
Chr1:244862605 [GRCh38]
Chr1:245025907 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.451G>A (p.Gly151Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002706404] |
Chr1:244863857 [GRCh38]
Chr1:245027159 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.2086G>A (p.Gly696Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002847142] |
Chr1:244855985 [GRCh38]
Chr1:245019287 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.226C>T (p.Gln76Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002825119] |
Chr1:244864082 [GRCh38]
Chr1:245027384 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1316T>C (p.Leu439Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002910223] |
Chr1:244858189 [GRCh38]
Chr1:245021491 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.264A>G (p.Glu88=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002639403] |
Chr1:244864044 [GRCh38]
Chr1:245027346 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.803+7G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002923827] |
Chr1:244862612 [GRCh38]
Chr1:245025914 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2424+16T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002824945] |
Chr1:244854957 [GRCh38]
Chr1:245018259 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.176G>A (p.Ser59Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002796408] |
Chr1:244864132 [GRCh38]
Chr1:245027434 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.877+13G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002735602] |
Chr1:244862448 [GRCh38]
Chr1:245025750 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1495-11C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002695002] |
Chr1:244857728 [GRCh38]
Chr1:245021030 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1614+11T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003081994] |
Chr1:244857587 [GRCh38]
Chr1:245020889 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.255_263del (p.Glu92_Glu94del) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002890617] |
Chr1:244864045..244864053 [GRCh38]
Chr1:245027347..245027355 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.79del (p.Asp27fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002985588] |
Chr1:244864229 [GRCh38]
Chr1:245027531 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.441C>T (p.Asp147=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003042956] |
Chr1:244863867 [GRCh38]
Chr1:245027169 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1494+11_1494+12insC |
insertion |
Developmental and epileptic encephalopathy, 54 [RCV003058691] |
Chr1:244857999..244858000 [GRCh38]
Chr1:245021301..245021302 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.687G>A (p.Ala229=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003082721] |
Chr1:244863621 [GRCh38]
Chr1:245026923 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.60C>G (p.Leu20=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003085892] |
Chr1:244864248 [GRCh38]
Chr1:245027550 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1744-17A>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002712036] |
Chr1:244856642 [GRCh38]
Chr1:245019944 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1842G>A (p.Lys614=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002829624] |
Chr1:244856527 [GRCh38]
Chr1:245019829 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1494+20_1494+21del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003083891] |
Chr1:244857990..244857991 [GRCh38]
Chr1:245021292..245021293 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1164A>G (p.Thr388=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002667323] |
Chr1:244858795 [GRCh38]
Chr1:245022097 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2390A>G (p.Asn797Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003082463] |
Chr1:244855007 [GRCh38]
Chr1:245018309 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1078C>T (p.Arg360Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003042240] |
Chr1:244859314 [GRCh38]
Chr1:245022616 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2352+10C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002929129] |
Chr1:244855414 [GRCh38]
Chr1:245018716 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2160A>G (p.Arg720=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003082565] |
Chr1:244855911 [GRCh38]
Chr1:245019213 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2168-9G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002710596] |
Chr1:244855617 [GRCh38]
Chr1:245018919 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1743+5G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003055821] |
Chr1:244856723 [GRCh38]
Chr1:245020025 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1230+20C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002954423] |
Chr1:244858709 [GRCh38]
Chr1:245022011 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1744-17A>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003023351] |
Chr1:244856642 [GRCh38]
Chr1:245019944 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.469G>A (p.Gly157Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003039709] |
Chr1:244863839 [GRCh38]
Chr1:245027141 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1219A>G (p.Thr407Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003040458] |
Chr1:244858740 [GRCh38]
Chr1:245022042 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2168-13T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003005647] |
Chr1:244855621 [GRCh38]
Chr1:245018923 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2177A>G (p.Asn726Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002697579] |
Chr1:244855599 [GRCh38]
Chr1:245018901 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1807G>A (p.Ala603Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002917393] |
Chr1:244856562 [GRCh38]
Chr1:245019864 [GRCh37]
Chr1:1q44 |
pathogenic|likely pathogenic |
| NM_031844.3(HNRNPU):c.528G>C (p.Gln176His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003042091] |
Chr1:244863780 [GRCh38]
Chr1:245027082 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.2268C>T (p.Ala756=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002875547] |
Chr1:244855508 [GRCh38]
Chr1:245018810 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1425C>T (p.Phe475=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002593992] |
Chr1:244858080 [GRCh38]
Chr1:245021382 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.998_999del (p.Lys333fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002872428] |
Chr1:244860353..244860354 [GRCh38]
Chr1:245023655..245023656 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.386A>G (p.Glu129Gly) |
single nucleotide variant |
not provided [RCV002508372] |
Chr1:244863922 [GRCh38]
Chr1:245027224 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1912+12T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002918417] |
Chr1:244856445 [GRCh38]
Chr1:245019747 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.734G>T (p.Gly245Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002872384] |
Chr1:244862688 [GRCh38]
Chr1:245025990 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.378C>T (p.Ala126=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002740768] |
Chr1:244863930 [GRCh38]
Chr1:245027232 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.451G>T (p.Gly151Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003022442] |
Chr1:244863857 [GRCh38]
Chr1:245027159 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1920T>C (p.Phe640=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002572496] |
Chr1:244856151 [GRCh38]
Chr1:245019453 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.316C>G (p.Leu106Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003042996] |
Chr1:244863992 [GRCh38]
Chr1:245027294 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2105G>C (p.Arg702Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002829322] |
Chr1:244855966 [GRCh38]
Chr1:245019268 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2352+17C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003025711] |
Chr1:244855407 [GRCh38]
Chr1:245018709 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.675C>T (p.Pro225=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002626215] |
Chr1:244863633 [GRCh38]
Chr1:245026935 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1723C>A (p.Arg575=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002932411] |
Chr1:244856748 [GRCh38]
Chr1:245020050 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1353C>G (p.His451Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002853167] |
Chr1:244858152 [GRCh38]
Chr1:245021454 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2391T>C (p.Asn797=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002711035] |
Chr1:244855006 [GRCh38]
Chr1:245018308 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1120G>A (p.Glu374Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002852020] |
Chr1:244858839 [GRCh38]
Chr1:245022141 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.878-12A>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002721070] |
Chr1:244860486 [GRCh38]
Chr1:245023788 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1588A>G (p.Thr530Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003089866] |
Chr1:244857624 [GRCh38]
Chr1:245020926 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1311A>G (p.Glu437=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003030010] |
Chr1:244858194 [GRCh38]
Chr1:245021496 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.284G>T (p.Gly95Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003028215] |
Chr1:244864024 [GRCh38]
Chr1:245027326 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2206A>G (p.Met736Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003048342] |
Chr1:244855570 [GRCh38]
Chr1:245018872 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2347A>C (p.Asn783His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002811657] |
Chr1:244855429 [GRCh38]
Chr1:245018731 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.546G>T (p.Glu182Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002721177] |
Chr1:244863762 [GRCh38]
Chr1:245027064 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.652G>A (p.Gly218Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003065013] |
Chr1:244863656 [GRCh38]
Chr1:245026958 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1023A>G (p.Thr341=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002963143] |
Chr1:244859369 [GRCh38]
Chr1:245022671 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.143_691+113del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002967115] |
Chr1:244863504..244864165 [GRCh38]
Chr1:245026806..245027467 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.669_691+32del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002675800]|not provided [RCV004571199] |
Chr1:244863585..244863639 [GRCh38]
Chr1:245026887..245026941 [GRCh37]
Chr1:1q44 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_031844.3(HNRNPU):c.878-21_878-20del |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV002938013] |
Chr1:244860494..244860495 [GRCh38]
Chr1:245023796..245023797 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1568G>A (p.Gly523Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002717879] |
Chr1:244857644 [GRCh38]
Chr1:245020946 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.516G>T (p.Gln172His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002806511] |
Chr1:244863792 [GRCh38]
Chr1:245027094 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.543G>A (p.Lys181=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003060819] |
Chr1:244863765 [GRCh38]
Chr1:245027067 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2170C>T (p.Pro724Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002649650] |
Chr1:244855606 [GRCh38]
Chr1:245018908 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1495-6C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002834709] |
Chr1:244857723 [GRCh38]
Chr1:245021025 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.315G>C (p.Glu105Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002714222] |
Chr1:244863993 [GRCh38]
Chr1:245027295 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1913-9T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002832856] |
Chr1:244856167 [GRCh38]
Chr1:245019469 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2353-16_2353-15delinsAG |
indel |
Developmental and epileptic encephalopathy, 54 [RCV002628238] |
Chr1:244855059..244855060 [GRCh38]
Chr1:245018361..245018362 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.535G>A (p.Ala179Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003011187]|Inborn genetic diseases [RCV003170838] |
Chr1:244863773 [GRCh38]
Chr1:245027075 [GRCh37]
Chr1:1q44 |
likely benign|uncertain significance |
| NM_031844.3(HNRNPU):c.444A>G (p.Glu148=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003088146] |
Chr1:244863864 [GRCh38]
Chr1:245027166 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1647T>C (p.Thr549=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002857796] |
Chr1:244856824 [GRCh38]
Chr1:245020126 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.803+16C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002715394] |
Chr1:244862603 [GRCh38]
Chr1:245025905 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1453G>A (p.Val485Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002632050] |
Chr1:244858052 [GRCh38]
Chr1:245021354 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.266_283del (p.Glu89_Glu94del) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002631856] |
Chr1:244864025..244864042 [GRCh38]
Chr1:245027327..245027344 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.691+16T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003027726] |
Chr1:244863601 [GRCh38]
Chr1:245026903 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2167+20T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002580955] |
Chr1:244855884 [GRCh38]
Chr1:245019186 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.803+17T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002922914] |
Chr1:244862602 [GRCh38]
Chr1:245025904 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1041G>A (p.Arg347=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002647994] |
Chr1:244859351 [GRCh38]
Chr1:245022653 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.600G>A (p.Pro200=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003047414] |
Chr1:244863708 [GRCh38]
Chr1:245027010 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1230T>C (p.Ala410=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002601221] |
Chr1:244858729 [GRCh38]
Chr1:245022031 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1099A>G (p.Thr367Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002646551] |
Chr1:244859293 [GRCh38]
Chr1:245022595 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1274G>A (p.Gly425Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003047081] |
Chr1:244858231 [GRCh38]
Chr1:245021533 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1255C>T (p.Leu419Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003045999] |
Chr1:244858250 [GRCh38]
Chr1:245021552 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1122del (p.Glu375fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002856945] |
Chr1:244858837 [GRCh38]
Chr1:245022139 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.246C>T (p.Gly82=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002967191] |
Chr1:244864062 [GRCh38]
Chr1:245027364 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2175G>A (p.Gly725=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003029996] |
Chr1:244855601 [GRCh38]
Chr1:245018903 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1385A>G (p.Lys462Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002650460] |
Chr1:244858120 [GRCh38]
Chr1:245021422 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1899C>G (p.Val633=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003062634] |
Chr1:244856470 [GRCh38]
Chr1:245019772 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.803+18A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003028030] |
Chr1:244862601 [GRCh38]
Chr1:245025903 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2051A>T (p.Asn684Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003009538] |
Chr1:244856020 [GRCh38]
Chr1:245019322 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1230+20_1230+23del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV002815017] |
Chr1:244858706..244858709 [GRCh38]
Chr1:245022008..245022011 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.487C>T (p.Pro163Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002725859] |
Chr1:244863821 [GRCh38]
Chr1:245027123 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1169A>G (p.Asn390Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003092565] |
Chr1:244858790 [GRCh38]
Chr1:245022092 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.877+9A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003069287] |
Chr1:244862452 [GRCh38]
Chr1:245025754 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2126G>A (p.Arg709His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002725757] |
Chr1:244855945 [GRCh38]
Chr1:245019247 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1722G>A (p.Lys574=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002584830] |
Chr1:244856749 [GRCh38]
Chr1:245020051 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1302C>T (p.Ile434=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003066142] |
Chr1:244858203 [GRCh38]
Chr1:245021505 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1262A>G (p.Tyr421Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003050190] |
Chr1:244858243 [GRCh38]
Chr1:245021545 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.158T>C (p.Met53Thr) |
single nucleotide variant |
not provided [RCV003129323] |
Chr1:244864150 [GRCh38]
Chr1:245027452 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.197C>T (p.Ser66Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002608629] |
Chr1:244864111 [GRCh38]
Chr1:245027413 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1369T>C (p.Phe457Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002943789] |
Chr1:244858136 [GRCh38]
Chr1:245021438 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.599C>T (p.Pro200Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002588730] |
Chr1:244863709 [GRCh38]
Chr1:245027011 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1680C>T (p.Pro560=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002589274] |
Chr1:244856791 [GRCh38]
Chr1:245020093 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2333A>G (p.Asn778Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002610540]|not provided [RCV003334077] |
Chr1:244855443 [GRCh38]
Chr1:245018745 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1263T>C (p.Tyr421=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV002603169] |
Chr1:244858242 [GRCh38]
Chr1:245021544 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1856A>G (p.Lys619Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592007]|not provided [RCV003227211] |
Chr1:244856513 [GRCh38]
Chr1:245019815 [GRCh37]
Chr1:1q44 |
uncertain significance |
| GRCh37/hg19 1q44(chr1:245016933-245028969)x1 |
copy number loss |
HNRNPU-related disorder [RCV004545844] |
Chr1:245016933..245028969 [GRCh37]
Chr1:1q44 |
not provided |
| NM_031844.3(HNRNPU):c.584C>T (p.Ala195Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003211926] |
Chr1:244863724 [GRCh38]
Chr1:245027026 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.81_82del (p.Asp27fs) |
deletion |
HNRNPU-related disorder [RCV004545846] |
Chr1:244864226..244864227 [GRCh38]
Chr1:245027528..245027529 [GRCh37]
Chr1:1q44 |
not provided |
| NM_031844.3(HNRNPU):c.1387G>C (p.Glu463Gln) |
single nucleotide variant |
not provided [RCV003159474] |
Chr1:244858118 [GRCh38]
Chr1:245021420 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.429_446del (p.Asp143_Glu148del) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003135607] |
Chr1:244863862..244863879 [GRCh38]
Chr1:245027164..245027181 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.560G>C (p.Ser187Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003135608] |
Chr1:244863748 [GRCh38]
Chr1:245027050 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1723C>T (p.Arg575Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003142363] |
Chr1:244856748 [GRCh38]
Chr1:245020050 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.484C>T (p.Gln162Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003142412] |
Chr1:244863824 [GRCh38]
Chr1:245027126 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.643_652del (p.Lys215fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003225912] |
Chr1:244863656..244863665 [GRCh38]
Chr1:245026958..245026967 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.1765del (p.Gln589fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003324243] |
Chr1:244856604 [GRCh38]
Chr1:245019906 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2365C>T (p.Arg789Ter) |
single nucleotide variant |
not provided [RCV003322045] |
Chr1:244855032 [GRCh38]
Chr1:245018334 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| 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 1q43-44(chr1:242164274-245299473)x1 |
copy number loss |
Intellectual disability, autosomal dominant 22 [RCV003327716] |
Chr1:242164274..245299473 [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(chr1:239907336-248919110)x1 |
copy number loss |
Intellectual disability, autosomal dominant 22 [RCV003333897] |
Chr1:239907336..248919110 [GRCh38]
Chr1:1q43-44 |
pathogenic |
| 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 |
| NM_031844.3(HNRNPU):c.944G>A (p.Ser315Asn) |
single nucleotide variant |
not provided [RCV003387643] |
Chr1:244860408 [GRCh38]
Chr1:245023710 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1780_1781del (p.Cys594fs) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV003333402] |
Chr1:244856588..244856589 [GRCh38]
Chr1:245019890..245019891 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.728del (p.Lys243fs) |
deletion |
Seizure [RCV003384294] |
Chr1:244862694 [GRCh38]
Chr1:245025996 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.494C>T (p.Pro165Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003355305] |
Chr1:244863814 [GRCh38]
Chr1:245027116 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2127T>G (p.Arg709=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003875589] |
Chr1:244855944 [GRCh38]
Chr1:245019246 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.557A>T (p.Lys186Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003825795] |
Chr1:244863751 [GRCh38]
Chr1:245027053 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.72C>T (p.Arg24=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003875237] |
Chr1:244864236 [GRCh38]
Chr1:245027538 [GRCh37]
Chr1:1q44 |
likely benign |
| 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 |
| NM_031844.3(HNRNPU):c.2295_2298del (p.Ser764_Tyr765insTer) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003459004] |
Chr1:244855478..244855481 [GRCh38]
Chr1:245018780..245018783 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1102dup (p.Ser368fs) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV004788616] |
Chr1:244859289..244859290 [GRCh38]
Chr1:245022591..245022592 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.913C>G (p.Arg305Gly) |
single nucleotide variant |
HNRNPU-related disorder [RCV003404453] |
Chr1:244860439 [GRCh38]
Chr1:245023741 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2220TGG[1] (p.Gly745del) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV003757268]|HNRNPU-related disorder [RCV003416954] |
Chr1:244855551..244855553 [GRCh38]
Chr1:245018853..245018855 [GRCh37]
Chr1:1q44 |
pathogenic|uncertain significance |
| NM_031844.3(HNRNPU):c.313G>C (p.Glu105Gln) |
single nucleotide variant |
not provided [RCV003415098] |
Chr1:244863995 [GRCh38]
Chr1:245027297 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.645G>A (p.Lys215=) |
single nucleotide variant |
not provided [RCV003415097] |
Chr1:244863663 [GRCh38]
Chr1:245026965 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1827A>C (p.Lys609Asn) |
single nucleotide variant |
not provided [RCV003415096] |
Chr1:244856542 [GRCh38]
Chr1:245019844 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2366G>A (p.Arg789Gln) |
single nucleotide variant |
not provided [RCV003415095] |
Chr1:244855031 [GRCh38]
Chr1:245018333 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1061T>C (p.Ile354Thr) |
single nucleotide variant |
not provided [RCV003442749] |
Chr1:244859331 [GRCh38]
Chr1:245022633 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.249T>A (p.Asp83Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592057] |
Chr1:244864059 [GRCh38]
Chr1:245027361 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.538G>A (p.Ala180Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592429] |
Chr1:244863770 [GRCh38]
Chr1:245027072 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1032C>T (p.Ile344=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592060] |
Chr1:244859360 [GRCh38]
Chr1:245022662 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2168-2_2168-1insAAAA |
insertion |
Developmental and epileptic encephalopathy, 54 [RCV003591573] |
Chr1:244855609..244855610 [GRCh38]
Chr1:245018911..245018912 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1614+15T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592240] |
Chr1:244857583 [GRCh38]
Chr1:245020885 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1832A>G (p.Glu611Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592472] |
Chr1:244856537 [GRCh38]
Chr1:245019839 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2404T>C (p.Tyr802His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592141] |
Chr1:244854993 [GRCh38]
Chr1:245018295 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1285G>C (p.Gly429Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592476] |
Chr1:244858220 [GRCh38]
Chr1:245021522 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2210C>T (p.Pro737Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591427] |
Chr1:244855566 [GRCh38]
Chr1:245018868 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.868C>T (p.Leu290Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592165] |
Chr1:244862470 [GRCh38]
Chr1:245025772 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.1259C>G (p.Ser420Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592167] |
Chr1:244858246 [GRCh38]
Chr1:245021548 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.8C>G (p.Ser3Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592508] |
Chr1:244864300 [GRCh38]
Chr1:245027602 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1017+17G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592523] |
Chr1:244860318 [GRCh38]
Chr1:245023620 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.621dup (p.Gln208fs) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV003592528] |
Chr1:244863686..244863687 [GRCh38]
Chr1:245026988..245026989 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.103A>C (p.Met35Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592551] |
Chr1:244864205 [GRCh38]
Chr1:245027507 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.437G>A (p.Gly146Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592552] |
Chr1:244863871 [GRCh38]
Chr1:245027173 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1118-15T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592566] |
Chr1:244858856 [GRCh38]
Chr1:245022158 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1680C>G (p.Pro560=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003882190] |
Chr1:244856791 [GRCh38]
Chr1:245020093 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1926C>G (p.Leu642=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592085] |
Chr1:244856145 [GRCh38]
Chr1:245019447 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2424+11T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592230] |
Chr1:244854962 [GRCh38]
Chr1:245018264 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.109C>A (p.Arg37=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592401] |
Chr1:244864199 [GRCh38]
Chr1:245027501 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.577C>T (p.Leu193=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592108] |
Chr1:244863731 [GRCh38]
Chr1:245027033 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1495-16C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003880323] |
Chr1:244857733 [GRCh38]
Chr1:245021035 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1017+5A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003830294] |
Chr1:244860330 [GRCh38]
Chr1:245023632 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.804-11C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003828379] |
Chr1:244862545 [GRCh38]
Chr1:245025847 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1231-12T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003876035] |
Chr1:244858286 [GRCh38]
Chr1:245021588 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1303A>G (p.Ser435Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591382] |
Chr1:244858202 [GRCh38]
Chr1:245021504 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.360G>A (p.Pro120=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591501] |
Chr1:244863948 [GRCh38]
Chr1:245027250 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.332G>C (p.Gly111Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591393] |
Chr1:244863976 [GRCh38]
Chr1:245027278 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1612A>T (p.Met538Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592672] |
Chr1:244857600 [GRCh38]
Chr1:245020902 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1A>C (p.Met1Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592637] |
Chr1:244864307 [GRCh38]
Chr1:245027609 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1764C>A (p.Ala588=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592652] |
Chr1:244856605 [GRCh38]
Chr1:245019907 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.861G>C (p.Val287=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592773] |
Chr1:244862477 [GRCh38]
Chr1:245025779 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.435C>T (p.Leu145=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003835055] |
Chr1:244863873 [GRCh38]
Chr1:245027175 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.665G>T (p.Gly222Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003593083] |
Chr1:244863643 [GRCh38]
Chr1:245026945 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.584C>A (p.Ala195Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003593084] |
Chr1:244863724 [GRCh38]
Chr1:245027026 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.36G>A (p.Lys12=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003593303] |
Chr1:244864272 [GRCh38]
Chr1:245027574 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.706_707del (p.Glu236fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003593290] |
Chr1:244862715..244862716 [GRCh38]
Chr1:245026017..245026018 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1017+15A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003756823] |
Chr1:244860320 [GRCh38]
Chr1:245023622 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1913-3C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003756995] |
Chr1:244856161 [GRCh38]
Chr1:245019463 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.96C>G (p.Ala32=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003756839] |
Chr1:244864212 [GRCh38]
Chr1:245027514 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1018-7C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003756672] |
Chr1:244859381 [GRCh38]
Chr1:245022683 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.295C>T (p.Leu99=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592795] |
Chr1:244864013 [GRCh38]
Chr1:245027315 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1614+20C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003756860] |
Chr1:244857578 [GRCh38]
Chr1:245020880 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1316T>A (p.Leu439His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592724] |
Chr1:244858189 [GRCh38]
Chr1:245021491 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1494+9T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003756699] |
Chr1:244858002 [GRCh38]
Chr1:245021304 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.838G>A (p.Asp280Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592997] |
Chr1:244862500 [GRCh38]
Chr1:245025802 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.738T>A (p.Val246=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592998] |
Chr1:244862684 [GRCh38]
Chr1:245025986 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2315A>G (p.Asn772Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003593037] |
Chr1:244855461 [GRCh38]
Chr1:245018763 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.933T>A (p.Leu311=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003756765] |
Chr1:244860419 [GRCh38]
Chr1:245023721 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.747A>C (p.Pro249=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003811391] |
Chr1:244862675 [GRCh38]
Chr1:245025977 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.542A>C (p.Lys181Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003810638]|not provided [RCV004810548] |
Chr1:244863766 [GRCh38]
Chr1:245027068 [GRCh37]
Chr1:1q44 |
benign|likely benign |
| NM_031844.3(HNRNPU):c.1569G>A (p.Gly523=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003837754] |
Chr1:244857643 [GRCh38]
Chr1:245020945 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.189C>T (p.Gly63=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003593038] |
Chr1:244864119 [GRCh38]
Chr1:245027421 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1231-11C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003593263] |
Chr1:244858285 [GRCh38]
Chr1:245021587 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.527A>G (p.Gln176Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003836112] |
Chr1:244863781 [GRCh38]
Chr1:245027083 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.650_656del (p.Glu217fs) |
microsatellite |
Developmental and epileptic encephalopathy, 54 [RCV003592699] |
Chr1:244863652..244863658 [GRCh38]
Chr1:245026954..245026960 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1231-10T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592685] |
Chr1:244858284 [GRCh38]
Chr1:245021586 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1393C>T (p.Pro465Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003592713] |
Chr1:244858112 [GRCh38]
Chr1:245021414 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2320G>A (p.Gly774Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003855221]|HNRNPU-related disorder [RCV004731577] |
Chr1:244855456 [GRCh38]
Chr1:245018758 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1362A>G (p.Ala454=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757426] |
Chr1:244858143 [GRCh38]
Chr1:245021445 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2272G>C (p.Val758Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757516] |
Chr1:244855504 [GRCh38]
Chr1:245018806 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2331C>T (p.Pro777=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003758125] |
Chr1:244855445 [GRCh38]
Chr1:245018747 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.691+14T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003758165] |
Chr1:244863603 [GRCh38]
Chr1:245026905 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1300A>G (p.Ile434Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003820430] |
Chr1:244858205 [GRCh38]
Chr1:245021507 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1409C>G (p.Pro470Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003844325] |
Chr1:244858096 [GRCh38]
Chr1:245021398 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.435C>A (p.Leu145=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757657] |
Chr1:244863873 [GRCh38]
Chr1:245027175 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.729G>A (p.Lys243=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757679] |
Chr1:244862693 [GRCh38]
Chr1:245025995 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2264G>A (p.Arg755His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757391] |
Chr1:244855512 [GRCh38]
Chr1:245018814 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.571A>G (p.Thr191Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003857106] |
Chr1:244863737 [GRCh38]
Chr1:245027039 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.163C>T (p.Pro55Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003821113] |
Chr1:244864145 [GRCh38]
Chr1:245027447 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.878-18T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757776] |
Chr1:244860492 [GRCh38]
Chr1:245023794 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2295C>T (p.Tyr765=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757803] |
Chr1:244855481 [GRCh38]
Chr1:245018783 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.804-20G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003846763] |
Chr1:244862554 [GRCh38]
Chr1:245025856 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.506A>T (p.Gln169Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757474] |
Chr1:244863802 [GRCh38]
Chr1:245027104 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.692-13G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757828] |
Chr1:244862743 [GRCh38]
Chr1:245026045 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.389A>G (p.Asp130Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757105] |
Chr1:244863919 [GRCh38]
Chr1:245027221 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1470G>T (p.Gly490=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757110] |
Chr1:244858035 [GRCh38]
Chr1:245021337 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.13C>T (p.Pro5Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757718] |
Chr1:244864295 [GRCh38]
Chr1:245027597 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1341T>C (p.His447=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757285] |
Chr1:244858164 [GRCh38]
Chr1:245021466 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.239C>A (p.Ala80Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757756] |
Chr1:244864069 [GRCh38]
Chr1:245027371 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.618C>T (p.Gly206=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757789] |
Chr1:244863690 [GRCh38]
Chr1:245026992 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.554G>A (p.Gly185Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757323] |
Chr1:244863754 [GRCh38]
Chr1:245027056 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2168-3dup |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV003757351] |
Chr1:244855610..244855611 [GRCh38]
Chr1:245018912..245018913 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.258G>A (p.Glu86=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757703] |
Chr1:244864050 [GRCh38]
Chr1:245027352 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1241G>A (p.Ser414Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757867] |
Chr1:244858264 [GRCh38]
Chr1:245021566 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1230+14A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757885] |
Chr1:244858715 [GRCh38]
Chr1:245022017 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.39G>C (p.Val13=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757847] |
Chr1:244864269 [GRCh38]
Chr1:245027571 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1085G>T (p.Gly362Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757529] |
Chr1:244859307 [GRCh38]
Chr1:245022609 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.804-17dup |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV003757541] |
Chr1:244862550..244862551 [GRCh38]
Chr1:245025852..245025853 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2460T>C (p.Tyr820=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757547] |
Chr1:244854468 [GRCh38]
Chr1:245017770 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.966A>C (p.Gly322=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757609] |
Chr1:244860386 [GRCh38]
Chr1:245023688 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.666C>T (p.Gly222=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003865480] |
Chr1:244863642 [GRCh38]
Chr1:245026944 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.296T>C (p.Leu99Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757804] |
Chr1:244864012 [GRCh38]
Chr1:245027314 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.688G>C (p.Ala230Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757317] |
Chr1:244863620 [GRCh38]
Chr1:245026922 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1494+19_1494+21del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003757863] |
Chr1:244857990..244857992 [GRCh38]
Chr1:245021292..245021294 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.190G>A (p.Gly64Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757397] |
Chr1:244864118 [GRCh38]
Chr1:245027420 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2059T>A (p.Ser687Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757402] |
Chr1:244856012 [GRCh38]
Chr1:245019314 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1933G>A (p.Val645Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757436] |
Chr1:244856138 [GRCh38]
Chr1:245019440 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1744-20A>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003857900] |
Chr1:244856645 [GRCh38]
Chr1:245019947 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.141C>G (p.Ala47=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757288] |
Chr1:244864167 [GRCh38]
Chr1:245027469 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.261_269del (p.Glu92_Glu94del) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003757292] |
Chr1:244864039..244864047 [GRCh38]
Chr1:245027341..245027349 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1231-9G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757324] |
Chr1:244858283 [GRCh38]
Chr1:245021585 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.870T>G (p.Leu290=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757357] |
Chr1:244862468 [GRCh38]
Chr1:245025770 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.691+11C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757372] |
Chr1:244863606 [GRCh38]
Chr1:245026908 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2167+8A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757440] |
Chr1:244855896 [GRCh38]
Chr1:245019198 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.794dup (p.Tyr266fs) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV003757591] |
Chr1:244862627..244862628 [GRCh38]
Chr1:245025929..245025930 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1743+17A>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757664] |
Chr1:244856711 [GRCh38]
Chr1:245020013 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.804-11_804-10del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003757685] |
Chr1:244862544..244862545 [GRCh38]
Chr1:245025846..245025847 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2364A>T (p.Gly788=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757740] |
Chr1:244855033 [GRCh38]
Chr1:245018335 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.376G>C (p.Ala126Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757852] |
Chr1:244863932 [GRCh38]
Chr1:245027234 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.417G>A (p.Gln139=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757935] |
Chr1:244863891 [GRCh38]
Chr1:245027193 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1000G>A (p.Val334Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591196] |
Chr1:244860352 [GRCh38]
Chr1:245023654 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.24A>G (p.Val8=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003758166] |
Chr1:244864284 [GRCh38]
Chr1:245027586 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.450A>C (p.Glu150Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591268]|not provided [RCV004765897] |
Chr1:244863858 [GRCh38]
Chr1:245027160 [GRCh37]
Chr1:1q44 |
uncertain significance |
| 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 1q44(chr1:244579324-246515944)x1 |
copy number loss |
not specified [RCV003986429] |
Chr1:244579324..246515944 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.174C>T (p.Gly58=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757341] |
Chr1:244864134 [GRCh38]
Chr1:245027436 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.233C>T (p.Ala78Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003840841] |
Chr1:244864075 [GRCh38]
Chr1:245027377 [GRCh37]
Chr1:1q44 |
uncertain significance |
| GRCh37/hg19 1q44(chr1:245007762-245037711)x1 |
copy number loss |
not specified [RCV003986961] |
Chr1:245007762..245037711 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1494+8A>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757460] |
Chr1:244858003 [GRCh38]
Chr1:245021305 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.531C>T (p.Arg177=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757507] |
Chr1:244863777 [GRCh38]
Chr1:245027079 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.89_179del (p.Leu30fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003757603] |
Chr1:244864129..244864219 [GRCh38]
Chr1:245027431..245027521 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1104T>C (p.Ser368=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757613] |
Chr1:244859288 [GRCh38]
Chr1:245022590 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2025G>A (p.Lys675=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757745] |
Chr1:244856046 [GRCh38]
Chr1:245019348 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.731G>A (p.Arg244Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757747] |
Chr1:244862691 [GRCh38]
Chr1:245025993 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2283C>T (p.Gly761=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003870339] |
Chr1:244855493 [GRCh38]
Chr1:245018795 [GRCh37]
Chr1:1q44 |
likely benign |
| GRCh37/hg19 1q43-44(chr1:243453390-245467768)x1 |
copy number loss |
not specified [RCV003987217] |
Chr1:243453390..245467768 [GRCh37]
Chr1:1q43-44 |
pathogenic |
| NM_031844.3(HNRNPU):c.524A>G (p.Gln175Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003758116] |
Chr1:244863784 [GRCh38]
Chr1:245027086 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.219C>T (p.Gly73=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003823884] |
Chr1:244864089 [GRCh38]
Chr1:245027391 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1749del (p.Asn583fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003591334] |
Chr1:244856620 [GRCh38]
Chr1:245019922 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1912+17C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757046] |
Chr1:244856440 [GRCh38]
Chr1:245019742 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2181T>G (p.Arg727=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003847842] |
Chr1:244855595 [GRCh38]
Chr1:245018897 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.172G>C (p.Gly58Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757321] |
Chr1:244864136 [GRCh38]
Chr1:245027438 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2352+19T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757348] |
Chr1:244855405 [GRCh38]
Chr1:245018707 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.432G>A (p.Glu144=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757360] |
Chr1:244863876 [GRCh38]
Chr1:245027178 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.334G>A (p.Ala112Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757336] |
Chr1:244863974 [GRCh38]
Chr1:245027276 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.585G>A (p.Ala195=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003591185] |
Chr1:244863723 [GRCh38]
Chr1:245027025 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1282C>T (p.Leu428Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757468] |
Chr1:244858223 [GRCh38]
Chr1:245021525 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1013T>C (p.Met338Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757501] |
Chr1:244860339 [GRCh38]
Chr1:245023641 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| NM_031844.3(HNRNPU):c.607G>C (p.Ala203Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757422] |
Chr1:244863701 [GRCh38]
Chr1:245027003 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1147C>G (p.Leu383Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757519] |
Chr1:244858812 [GRCh38]
Chr1:245022114 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1118-11T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757641] |
Chr1:244858852 [GRCh38]
Chr1:245022154 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.944G>C (p.Ser315Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757658] |
Chr1:244860408 [GRCh38]
Chr1:245023710 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.803+4_803+6dup |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV003757654] |
Chr1:244862612..244862613 [GRCh38]
Chr1:245025914..245025915 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2144G>A (p.Arg715His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757711] |
Chr1:244855927 [GRCh38]
Chr1:245019229 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1435G>A (p.Val479Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003842536] |
Chr1:244858070 [GRCh38]
Chr1:245021372 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.249_254del (p.Asp83_Glu84del) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003757760] |
Chr1:244864054..244864059 [GRCh38]
Chr1:245027356..245027361 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1231-12dup |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV003757881] |
Chr1:244858285..244858286 [GRCh38]
Chr1:245021587..245021588 [GRCh37]
Chr1:1q44 |
benign |
| NM_031844.3(HNRNPU):c.1539G>A (p.Trp513Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757716] |
Chr1:244857673 [GRCh38]
Chr1:245020975 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1032C>A (p.Ile344=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757918] |
Chr1:244859360 [GRCh38]
Chr1:245022662 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.2139T>C (p.Asn713=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003757920] |
Chr1:244855932 [GRCh38]
Chr1:245019234 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1254A>G (p.Glu418=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003758035] |
Chr1:244858251 [GRCh38]
Chr1:245021553 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1034C>T (p.Pro345Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003758088] |
Chr1:244859358 [GRCh38]
Chr1:245022660 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.584del (p.Ala195fs) |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV003985175] |
Chr1:244863724 [GRCh38]
Chr1:245027026 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2148T>C (p.Gly716=) |
single nucleotide variant |
HNRNPU-related disorder [RCV003976916] |
Chr1:244855923 [GRCh38]
Chr1:245019225 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.436G>C (p.Gly146Arg) |
single nucleotide variant |
not provided [RCV003887030] |
Chr1:244863872 [GRCh38]
Chr1:245027174 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1614+2T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003885415] |
Chr1:244857596 [GRCh38]
Chr1:245020898 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.697G>A (p.Gly233Ser) |
single nucleotide variant |
not provided [RCV003887383] |
Chr1:244862725 [GRCh38]
Chr1:245026027 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.1308G>A (p.Lys436=) |
single nucleotide variant |
HNRNPU-related disorder [RCV003981477] |
Chr1:244858197 [GRCh38]
Chr1:245021499 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.479A>T (p.Glu160Val) |
single nucleotide variant |
not provided [RCV003887034] |
Chr1:244863829 [GRCh38]
Chr1:245027131 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2008A>G (p.Lys670Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV003990925] |
Chr1:244856063 [GRCh38]
Chr1:245019365 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.184C>G (p.Leu62Val) |
single nucleotide variant |
HNRNPU-related disorder [RCV003972014] |
Chr1:244864124 [GRCh38]
Chr1:245027426 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1142dup (p.Tyr381Ter) |
duplication |
Neurodevelopmental disorder [RCV004018279] |
Chr1:244858816..244858817 [GRCh38]
Chr1:245022118..245022119 [GRCh37]
Chr1:1q44 |
likely pathogenic |
| GRCh37/hg19 1q43-44(chr1:243364757-245372332)x1 |
copy number loss |
not provided [RCV004577448] |
Chr1:243364757..245372332 [GRCh37]
Chr1:1q43-44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2128G>A (p.Gly710Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004399830] |
Chr1:244855943 [GRCh38]
Chr1:245019245 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2221G>A (p.Gly741Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004399831] |
Chr1:244855555 [GRCh38]
Chr1:245018857 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2430C>G (p.Phe810Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004399832] |
Chr1:244854498 [GRCh38]
Chr1:245017800 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.650A>G (p.Glu217Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004399834] |
Chr1:244863658 [GRCh38]
Chr1:245026960 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NC_000001.10:g.(?_245018389)_(245019742_?)del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV004584134] |
Chr1:245018389..245019742 [GRCh37]
Chr1:1q44 |
pathogenic |
| NC_000001.10:g.(?_244999017)_(245020178_?)dup |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV004579019] |
Chr1:244999017..245020178 [GRCh37]
Chr1:1q44 |
pathogenic |
| NC_000001.10:g.(?_241661128)_(245027609_?)del |
deletion |
not provided [RCV004579203] |
Chr1:241661128..245027609 [GRCh37]
Chr1:1q43-44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2389_2390del (p.Asn797fs) |
deletion |
Seizure [RCV004698415] |
Chr1:244855007..244855008 [GRCh38]
Chr1:245018309..245018310 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.1117+1G>A |
single nucleotide variant |
not provided [RCV004697664] |
Chr1:244859274 [GRCh38]
Chr1:245022576 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.682C>T (p.Pro228Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004632951] |
Chr1:244863626 [GRCh38]
Chr1:245026928 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NC_000001.10:g.(?_243668551)_(245027609_?)del |
deletion |
Developmental and epileptic encephalopathy, 54 [RCV004584133] |
Chr1:243668551..245027609 [GRCh37]
Chr1:1q43-44 |
pathogenic |
| NM_031844.3(HNRNPU):c.2213A>G (p.Gln738Arg) |
single nucleotide variant |
not provided [RCV004780013] |
Chr1:244855563 [GRCh38]
Chr1:245018865 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2185G>A (p.Gly729Arg) |
single nucleotide variant |
HNRNPU-related disorder [RCV004755624] |
Chr1:244855591 [GRCh38]
Chr1:245018893 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1340A>G (p.His447Arg) |
single nucleotide variant |
not provided [RCV004780856] |
Chr1:244858165 [GRCh38]
Chr1:245021467 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1145C>G (p.Ser382Cys) |
single nucleotide variant |
not provided [RCV004771123] |
Chr1:244858814 [GRCh38]
Chr1:245022116 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.475G>C (p.Gly159Arg) |
single nucleotide variant |
not provided [RCV004775905] |
Chr1:244863833 [GRCh38]
Chr1:245027135 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1616T>A (p.Val539Glu) |
single nucleotide variant |
not provided [RCV004776204] |
Chr1:244856855 [GRCh38]
Chr1:245020157 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.1767G>C (p.Gln589His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 54 [RCV004759626] |
|
uncertain significance |
| NM_031844.3(HNRNPU):c.250G>A (p.Glu84Lys) |
single nucleotide variant |
not provided [RCV004771859] |
Chr1:244864058 [GRCh38]
Chr1:245027360 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.2129G>A (p.Gly710Glu) |
single nucleotide variant |
HNRNPU-related disorder [RCV004730818] |
Chr1:244855942 [GRCh38]
Chr1:245019244 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.651AGGCGGCGG[3] (p.Gly223_Arg224insGlyGlyGly) |
microsatellite |
not provided [RCV004795054] |
Chr1:244863639..244863640 [GRCh38]
Chr1:245026941..245026942 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.632dup (p.Gly212fs) |
duplication |
Developmental and epileptic encephalopathy, 54 [RCV004771795] |
Chr1:244863675..244863676 [GRCh38]
Chr1:245026977..245026978 [GRCh37]
Chr1:1q44 |
pathogenic |
| NM_031844.3(HNRNPU):c.691+1G>T |
single nucleotide variant |
not provided [RCV004760800] |
|
uncertain significance |
| NM_031844.3(HNRNPU):c.767G>A (p.Gly256Glu) |
single nucleotide variant |
not provided [RCV004772537] |
Chr1:244862655 [GRCh38]
Chr1:245025957 [GRCh37]
Chr1:1q44 |
uncertain significance |
| NM_031844.3(HNRNPU):c.373_374delinsCC (p.Glu125Pro) |
indel |
not provided [RCV004727554] |
Chr1:244863934..244863935 [GRCh38]
Chr1:245027236..245027237 [GRCh37]
Chr1:1q44 |
likely benign |
| NM_031844.3(HNRNPU):c.871G>A (p.Asp291Asn) |
single nucleotide variant |
not provided [RCV004726176] |
Chr1:244862467 [GRCh38]
Chr1:245025769 [GRCh37]
Chr1:1q44 |
uncertain significance |
