GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 |
copy number gain |
See cases [RCV000050889] |
ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 |
copy number gain |
See cases [RCV000050946] |
ChrX:150036146..156022206 [GRCh38] ChrX:149298619..155251871 [GRCh37] ChrX:148955035..154905065 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153929344-154367160)x3 |
copy number gain |
See cases [RCV000050852] |
ChrX:153929344..154367160 [GRCh38] ChrX:153333946..153595528 [GRCh37] ChrX:152847991..153248722 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 |
copy number gain |
See cases [RCV000050810] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 |
copy number loss |
See cases [RCV000050811] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000050699] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 |
copy number gain |
See cases [RCV000050657] |
ChrX:149989929..156022206 [GRCh38] ChrX:149158160..155251871 [GRCh37] ChrX:148908818..154905065 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
Global developmental delay [RCV000050386]|See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000050697] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 |
copy number loss |
See cases [RCV000051160] |
ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] |
ChrX:145879711..156022206 [GRCh38] ChrX:146715565..155251871 [GRCh37] ChrX:144768921..154905065 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 |
copy number loss |
See cases [RCV000051750] |
ChrX:153296806..155699618 [GRCh38] ChrX:152568327..154929279 [GRCh37] ChrX:152215458..154582473 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 |
copy number loss |
See cases [RCV000051665] |
ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 |
copy number loss |
See cases [RCV000051666] |
ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 |
copy number loss |
See cases [RCV000051728] |
ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 |
copy number loss |
See cases [RCV000051729] |
ChrX:126537861..155996431 [GRCh38] ChrX:125671844..155226096 [GRCh37] ChrX:125499525..154879290 [NCBI36] ChrX:Xq25-28 |
pathogenic |
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 |
copy number loss |
See cases [RCV000051713] |
ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 |
copy number loss |
See cases [RCV000051732] |
ChrX:136956500..156020993 [GRCh38] ChrX:136038659..155250658 [GRCh37] ChrX:135866325..154903852 [NCBI36] ChrX:Xq26.3-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] |
ChrX:140445228..155998166 [GRCh38] ChrX:139527393..155227831 [GRCh37] ChrX:139355059..154881025 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 |
copy number gain |
See cases [RCV000052322] |
ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 |
copy number gain |
See cases [RCV000052359] |
ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] |
ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 |
copy number gain |
See cases [RCV000052324] |
ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 |
copy number gain |
See cases [RCV000052325] |
ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153722500-154367160)x2 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] |
ChrX:153722500..154367160 [GRCh38] ChrX:152641149..153248722 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 |
copy number gain |
See cases [RCV000052525] |
ChrX:153769547..154394658 [GRCh38] ChrX:152688196..153276194 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 |
copy number gain |
See cases [RCV000052527] |
ChrX:153777340..154397779 [GRCh38] ChrX:153333946..153626120 [GRCh37] ChrX:152695989..153279314 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 |
copy number gain |
See cases [RCV000052528] |
ChrX:153787044..154397779 [GRCh38] ChrX:153333946..153626120 [GRCh37] ChrX:152705693..153279314 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 |
copy number gain |
See cases [RCV000052529] |
ChrX:153932045..155611794 [GRCh38] ChrX:152850692..154494649 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] |
ChrX:152932818..156022206 [GRCh38] ChrX:152173071..155251871 [GRCh37] ChrX:151852018..154905065 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 |
copy number gain |
See cases [RCV000052491] |
ChrX:153395425..155687381 [GRCh38] ChrX:152314077..154570236 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 |
copy number gain |
See cases [RCV000052492] |
ChrX:153504314..154144797 [GRCh38] ChrX:152422966..153063464 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 |
copy number gain |
See cases [RCV000052445] |
ChrX:123731372..155687381 [GRCh38] ChrX:122865222..154917042 [GRCh37] ChrX:122692903..154570236 [NCBI36] ChrX:Xq25-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 |
copy number gain |
See cases [RCV000052471] |
ChrX:140226495..155687381 [GRCh38] ChrX:139308651..154917042 [GRCh37] ChrX:139136317..154570236 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 |
copy number gain |
See cases [RCV000052474] |
ChrX:140445228..154604471 [GRCh38] ChrX:139527393..153832724 [GRCh37] ChrX:139355059..153485918 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 |
copy number gain |
See cases [RCV000052475] |
ChrX:141160282..155699618 [GRCh38] ChrX:140254480..154929279 [GRCh37] ChrX:140082146..154582473 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] |
ChrX:153585420..154427385 [GRCh38] ChrX:152864376..153655730 [GRCh37] ChrX:152504072..153308924 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 |
copy number gain |
See cases [RCV000052522] |
ChrX:153590730..154380801 [GRCh38] ChrX:152864376..153609161 [GRCh37] ChrX:152509382..153262355 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 |
copy number gain |
See cases [RCV000052523] |
ChrX:153714542..154380803 [GRCh38] ChrX:152633191..153262357 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 |
copy number gain |
See cases [RCV000133654] |
ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV003214133] |
ChrX:139586015..154774957 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 |
copy number loss |
See cases [RCV000133818] |
ChrX:139333024..155978689 [GRCh38] ChrX:138415183..155208354 [GRCh37] ChrX:138242849..154861548 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 |
copy number loss |
See cases [RCV000133792] |
ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 |
copy number gain |
See cases [RCV000133725] |
ChrX:144627217..155434735 [GRCh38] ChrX:146715565..154664396 [GRCh37] ChrX:143516380..154317590 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 |
copy number gain |
See cases [RCV000133744] |
ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 |
copy number gain |
See cases [RCV000134564] |
ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 |
copy number loss |
See cases [RCV000134570] |
ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 |
copy number loss |
See cases [RCV000133947] |
ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 |
copy number gain |
See cases [RCV000134025] |
ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 |
copy number gain |
See cases [RCV000133911] |
ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 |
copy number loss |
See cases [RCV000135300] |
ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 |
copy number loss |
See cases [RCV000135321] |
ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 |
copy number loss |
See cases [RCV000135307] |
ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 |
copy number loss |
See cases [RCV000134958] |
ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 |
copy number loss |
See cases [RCV000134947] |
ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153855152-154092314)x2 |
copy number gain |
See cases [RCV000135840] |
ChrX:153855152..154092314 [GRCh38] ChrX:152773801..153010966 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 |
copy number loss |
See cases [RCV000135552] |
ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 |
copy number gain |
See cases [RCV000135451] |
ChrX:153296806..154604471 [GRCh38] ChrX:152568327..153832724 [GRCh37] ChrX:152215458..153485918 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 |
copy number loss |
See cases [RCV000135454] |
ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 |
copy number loss |
See cases [RCV000136478] |
ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 |
copy number gain |
See cases [RCV000136552] |
ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 |
copy number gain |
See cases [RCV000136030] |
ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 |
copy number loss |
See cases [RCV000136005] |
ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 |
copy number loss |
See cases [RCV000136095] |
ChrX:128473235..156003229 [GRCh38] ChrX:127607213..155232894 [GRCh37] ChrX:127434894..154886088 [NCBI36] ChrX:Xq25-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 |
copy number gain |
See cases [RCV000135881] |
ChrX:140783390..155611114 [GRCh38] ChrX:139865555..154785891 [GRCh37] ChrX:139693221..154493969 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 |
copy number loss |
See cases [RCV000136083] |
ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 |
copy number loss |
See cases [RCV000136912] |
ChrX:141650284..156022206 [GRCh38] ChrX:140738414..155251871 [GRCh37] ChrX:140566080..154905065 [NCBI36] ChrX:Xq27.2-28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 |
copy number loss |
See cases [RCV000137113] |
ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 |
copy number gain |
See cases [RCV000136716] |
ChrX:153322656..155522304 [GRCh38] ChrX:152864376..154751965 [GRCh37] ChrX:152241308..154405159 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 |
copy number gain |
See cases [RCV000136841] |
ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 |
copy number gain |
See cases [RCV000136791] |
ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 |
copy number loss |
See cases [RCV000136718] |
ChrX:151750863..155522304 [GRCh38] ChrX:150919335..154751965 [GRCh37] ChrX:150669991..154405159 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 |
copy number gain |
See cases [RCV000137498] |
ChrX:153276277..156003242 [GRCh38] ChrX:152465185..155232907 [GRCh37] ChrX:152118379..154886101 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 |
copy number gain |
See cases [RCV000137536] |
ChrX:153667032..154394658 [GRCh38] ChrX:152585681..153276194 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 |
copy number loss |
See cases [RCV000137415] |
ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 |
copy number gain |
See cases [RCV000137553] |
ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 |
copy number loss |
See cases [RCV000137138] |
ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153813894-154140759)x2 |
copy number gain |
See cases [RCV000137153] |
ChrX:153813894..154140759 [GRCh38] ChrX:152732543..153059427 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 |
copy number loss |
See cases [RCV000137257] |
ChrX:137118983..156003242 [GRCh38] ChrX:136201142..155232907 [GRCh37] ChrX:136028808..154886101 [NCBI36] ChrX:Xq26.3-28 |
pathogenic|uncertain significance |
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 |
copy number loss |
See cases [RCV000137167] |
ChrX:123793526..156022206 [GRCh38] ChrX:122927376..155251871 [GRCh37] ChrX:122755057..154905065 [NCBI36] ChrX:Xq25-28 |
pathogenic|uncertain significance |
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 |
copy number gain |
See cases [RCV000138020] |
ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 |
copy number loss |
See cases [RCV000137887] |
ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 |
copy number loss |
See cases [RCV000138679] |
ChrX:143553831..156003229 [GRCh38] ChrX:142641674..155232894 [GRCh37] ChrX:142469340..154886088 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 |
copy number loss |
See cases [RCV000138787] |
ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 |
copy number gain |
See cases [RCV000138393] |
ChrX:153727116..154555423 [GRCh38] ChrX:153333946..153783638 [GRCh37] ChrX:152645765..153436832 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 |
copy number loss |
See cases [RCV000138541] |
ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 |
copy number loss |
See cases [RCV000139278] |
ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 |
copy number loss |
See cases [RCV000139400] |
ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 |
copy number loss |
See cases [RCV000139351] |
ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28 |
pathogenic|likely benign |
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 |
copy number gain |
See cases [RCV000139416] |
ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 |
copy number gain |
See cases [RCV000139888] |
ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153813894-154383071)x2 |
copy number gain |
See cases [RCV000140524] |
ChrX:153813894..154383071 [GRCh38] ChrX:153079349..153611431 [GRCh37] ChrX:152732543..153264625 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 |
copy number gain |
See cases [RCV000140532] |
ChrX:153451351..154230630 [GRCh38] ChrX:152716809..153496099 [GRCh37] ChrX:152370003..153149293 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153802827-154294817)x2 |
copy number gain |
See cases [RCV000140537] |
ChrX:153802827..154294817 [GRCh38] ChrX:153068282..153523170 [GRCh37] ChrX:152721476..153176364 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 |
copy number loss |
See cases [RCV000139724] |
ChrX:139530928..156003229 [GRCh38] ChrX:138613087..155232894 [GRCh37] ChrX:138440753..154886088 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 |
copy number gain |
See cases [RCV000141400] |
ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 |
copy number gain |
See cases [RCV000141401] |
ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 |
copy number gain |
See cases [RCV000140786] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 |
copy number loss |
See cases [RCV000140787] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 |
copy number loss |
See cases [RCV000141825] |
ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 |
copy number loss |
See cases [RCV000142016] |
ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 |
copy number loss |
See cases [RCV000141743] |
ChrX:119297670..156004066 [GRCh38] ChrX:118431633..155233731 [GRCh37] ChrX:118315661..154886925 [NCBI36] ChrX:Xq24-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 |
copy number loss |
See cases [RCV000142337] |
ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 |
copy number loss |
See cases [RCV000142137] |
ChrX:118856574..156004066 [GRCh38] ChrX:117990537..155233731 [GRCh37] ChrX:117874565..154886925 [NCBI36] ChrX:Xq24-28 |
pathogenic |
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 |
copy number loss |
See cases [RCV000142037] |
ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 |
copy number loss |
See cases [RCV000142190] |
ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153861449-154140759)x2 |
copy number gain |
See cases [RCV000143114] |
ChrX:153861449..154140759 [GRCh38] ChrX:152780098..153059427 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 |
copy number gain |
See cases [RCV000143002] |
ChrX:148951460..155434653 [GRCh38] ChrX:148956425..154664314 [GRCh37] ChrX:147840690..154317508 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 |
copy number loss |
See cases [RCV000142577] |
ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 |
copy number gain |
See cases [RCV000142625] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 |
copy number loss |
See cases [RCV000143424] |
ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 |
copy number loss |
See cases [RCV000143349] |
ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 |
copy number loss |
See cases [RCV000143441] |
ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 |
copy number gain |
See cases [RCV000143433] |
ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 |
copy number gain |
See cases [RCV000143219] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 |
copy number loss |
See cases [RCV000143132] |
ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000148141] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000148135] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 |
copy number gain |
See cases [RCV000239843] |
ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 |
copy number loss |
See cases [RCV000239832] |
ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 |
copy number gain |
See cases [RCV000239798] |
ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 |
copy number gain |
See cases [RCV000240143] |
ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 |
copy number gain |
See cases [RCV000239934] |
ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 |
copy number gain |
See cases [RCV000240106] |
ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153047627-153555804)x2 |
copy number gain |
See cases [RCV000239929] |
ChrX:153047627..153555804 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152912867-153236360)x2 |
copy number gain |
See cases [RCV000239969] |
ChrX:152912867..153236360 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 |
copy number loss |
See cases [RCV000446026] |
ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 |
copy number gain |
See cases [RCV000511307] |
ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152993910-153555804)x2 |
copy number gain |
See cases [RCV000240396] |
ChrX:152993910..153555804 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 |
copy number gain |
See cases [RCV000240552] |
ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 |
copy number gain |
See cases [RCV000240314] |
ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 |
copy number gain |
See cases [RCV000240464] |
ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 |
copy number gain |
See cases [RCV000240530] |
ChrX:142174780..155250222 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 |
copy number loss |
See cases [RCV000240337] |
ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 |
copy number gain |
See cases [RCV000240148] |
ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
See cases [RCV000449330] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) |
copy number loss |
See cases [RCV000449461] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 |
copy number loss |
See cases [RCV000449365] |
ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 |
copy number gain |
See cases [RCV000446471] |
ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 |
copy number loss |
See cases [RCV000446197] |
ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 |
copy number loss |
See cases [RCV000446667] |
ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 |
copy number gain |
See cases [RCV000447331] |
ChrX:152228560..154930047 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 |
copy number loss |
See cases [RCV000447490] |
ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152970475-153524157)x2 |
copy number gain |
See cases [RCV000447506] |
ChrX:152970475..153524157 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 |
copy number gain |
See cases [RCV000446151] |
ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 |
copy number gain |
See cases [RCV000446310] |
ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
See cases [RCV000446932] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 |
copy number loss |
See cases [RCV000446761] |
ChrX:150253008..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 |
copy number gain |
See cases [RCV000447253] |
ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 |
copy number loss |
See cases [RCV000445891] |
ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 |
copy number gain |
See cases [RCV000448796] |
ChrX:152886474..153368990 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 |
copy number loss |
See cases [RCV000448724] |
ChrX:126773628..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 |
copy number gain |
See cases [RCV000448034] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 |
copy number loss |
See cases [RCV000448652] |
ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 |
copy number loss |
See cases [RCV000448865] |
ChrX:134114063..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 |
copy number gain |
See cases [RCV000510362] |
ChrX:153097608..153681801 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 |
copy number gain |
See cases [RCV000510478] |
ChrX:151201777..154741703 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 |
copy number gain |
See cases [RCV000511787] |
ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic|uncertain significance |
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 |
copy number loss |
See cases [RCV000511572] |
ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 |
copy number loss |
See cases [RCV000511936] |
ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 |
copy number loss |
See cases [RCV000511482] |
ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) |
copy number gain |
See cases [RCV000512020] |
ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 |
copy number loss |
See cases [RCV000511490] |
ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 |
copy number gain |
See cases [RCV000510826] |
ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 |
copy number loss |
See cases [RCV000511228] |
ChrX:146232592..155233731 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 |
copy number loss |
See cases [RCV000510820] |
ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 |
copy number loss |
See cases [RCV000510866] |
ChrX:151963528..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 |
copy number loss |
See cases [RCV000510920] |
ChrX:151311551..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 |
copy number gain |
See cases [RCV000511034] |
ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153138672-153665655) |
copy number gain |
Microcytic anemia [RCV000626549] |
ChrX:153138672..153665655 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 |
copy number gain |
See cases [RCV000512173] |
ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 |
copy number gain |
See cases [RCV000512403] |
ChrX:152899437..153624564 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 |
copy number loss |
See cases [RCV000512372] |
ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
NC_000023.10:g.(?_153128098)_(153599633_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] |
ChrX:153128098..153599633 [GRCh37] ChrX:Xq28 |
pathogenic |
Single allele |
duplication |
not provided [RCV000677999] |
ChrX:152912867..153236360 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 |
copy number loss |
not provided [RCV000684386] |
ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 |
copy number loss |
not provided [RCV000684397] |
ChrX:138331745..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 |
copy number loss |
not provided [RCV000684401] |
ChrX:139504488..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 |
copy number gain |
not provided [RCV000684402] |
ChrX:140388077..155233731 [GRCh37] ChrX:Xq27.2-28 |
pathogenic |
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 |
copy number loss |
not provided [RCV000684373] |
ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 |
copy number loss |
not provided [RCV000684357] |
ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 |
copy number loss |
not provided [RCV000684363] |
ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 |
copy number gain |
not provided [RCV000684738] |
ChrX:152628304..153594168 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 |
copy number gain |
not provided [RCV000684739] |
ChrX:152941302..153438781 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:153123907-153431401)x2 |
copy number gain |
not provided [RCV000684741] |
ChrX:153123907..153431401 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152954010)_(153599633_?)dup |
duplication |
Creatine transporter deficiency [RCV003117500]|Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] |
ChrX:152954010..153599633 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance |
NC_000023.10:g.(?_153128823)_(153416424_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000708432] |
ChrX:153128823..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153128118)_(153416424_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000707765] |
ChrX:153128118..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153170600)_(153409869_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000708104]|not provided [RCV003117501] |
ChrX:153170600..153409869 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|no classifications from unflagged records |
NC_000023.10:g.(?_153184286)_(153409869_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000708531] |
ChrX:153184286..153409869 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 |
copy number loss |
not provided [RCV000753810] |
ChrX:138750575..155246749 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 |
copy number gain |
not provided [RCV000753922] |
ChrX:152806628..153626649 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3 |
copy number gain |
not provided [RCV000753930] |
ChrX:153184816..153626794 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 |
copy number loss |
not provided [RCV000753815] |
ChrX:139504958..155254881 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 |
copy number loss |
not provided [RCV000753606] |
ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 |
copy number loss |
not provided [RCV000753271] |
ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 |
copy number gain |
not provided [RCV000753272] |
ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 |
copy number loss |
not provided [RCV000753278] |
ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 |
copy number gain |
not provided [RCV000753276] |
ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele |
duplication |
Autism [RCV000754365] |
ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 |
copy number loss |
not provided [RCV000753556] |
ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
NM_002910.6(RENBP):c.29A>G (p.Asp10Gly) |
single nucleotide variant |
not provided [RCV001572848]|not specified [RCV001703016] |
ChrX:153944417 [GRCh38] ChrX:153209869 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
NM_002910.6(RENBP):c.1078-10G>T |
single nucleotide variant |
not provided [RCV000966814] |
ChrX:153935586 [GRCh38] ChrX:153201039 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) |
copy number gain |
not provided [RCV000767679] |
ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 |
copy number loss |
not provided [RCV000846958] |
ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
NM_002910.6(RENBP):c.1166-4G>A |
single nucleotide variant |
not provided [RCV000896941] |
ChrX:153935408 [GRCh38] ChrX:153200861 [GRCh37] ChrX:Xq28 |
benign |
NM_002910.6(RENBP):c.629C>T (p.Ala210Val) |
single nucleotide variant |
not provided [RCV000968447] |
ChrX:153942913 [GRCh38] ChrX:153208365 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq28(chrX:153174571-153609996) |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV000767661] |
ChrX:153174571..153609996 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152954020)_(154096327_?)del |
deletion |
Adrenoleukodystrophy [RCV000815921] |
ChrX:152954020..154096327 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 |
copy number loss |
not provided [RCV000846274] |
ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
NC_000023.10:g.(?_153137587)_(153363142_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000794134] |
ChrX:153137587..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153154008-153624566)x2 |
copy number gain |
not provided [RCV000846110] |
ChrX:153154008..153624566 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153128098)_(153363142_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV000801357] |
ChrX:153128098..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152990712)_(153650075_?)del |
deletion |
X-linked Emery-Dreifuss muscular dystrophy [RCV000823256] |
ChrX:152990712..153650075 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153128108)_(153609567_?)dup |
duplication |
X-linked Emery-Dreifuss muscular dystrophy [RCV000795425] |
ChrX:153128108..153609567 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 |
copy number loss |
not provided [RCV001007318] |
ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 |
copy number loss |
not provided [RCV001007322] |
ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 |
copy number loss |
not provided [RCV000849097] |
ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153105400-153438105)x2 |
copy number gain |
not provided [RCV000846316] |
ChrX:153105400..153438105 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 |
copy number loss |
not provided [RCV000845672] |
ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 |
copy number loss |
not provided [RCV000848218] |
ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 |
copy number loss |
not provided [RCV000847838] |
ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NC_000023.10:g.(?_153195397)_(153583460_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003107408]|Methylmalonic acidemia with homocystinuria, type cblX [RCV003122559]|not provided [RCV003122560] |
ChrX:153195397..153583460 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records |
NC_000023.10:g.(?_153128118)_(153664237_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV003107402] |
ChrX:153128118..153664237 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002910.6(RENBP):c.514G>A (p.Ala172Thr) |
single nucleotide variant |
not specified [RCV004314812] |
ChrX:153943028 [GRCh38] ChrX:153208480 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 |
copy number loss |
Premature ovarian insufficiency [RCV000852349] |
ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) |
copy number gain |
Klinefelter syndrome [RCV003236730] |
ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 |
copy number gain |
not provided [RCV001007367] |
ChrX:153023149..153345755 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 |
copy number gain |
not provided [RCV001007368] |
ChrX:153029046..153567369 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153194251-153623000)x2 |
copy number gain |
Intellectual disability [RCV001638055] |
ChrX:153194251..153623000 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152954010)_(153363142_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] |
ChrX:152954010..153363142 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_002910.6(RENBP):c.304C>T (p.Leu102=) |
single nucleotide variant |
not provided [RCV001171652] |
ChrX:153943704 [GRCh38] ChrX:153209156 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_152990712)_(153650075_?)dup |
duplication |
X-linked Emery-Dreifuss muscular dystrophy [RCV001031812] |
ChrX:152990712..153650075 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) |
copy number loss |
Intellectual disability [RCV001249592] |
ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 |
copy number gain |
not provided [RCV001007365] |
ChrX:152516781..153368573 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152372767-155233731) |
copy number gain |
Chromosome Xq28 duplication syndrome [RCV002280621]|Syndromic X-linked intellectual disability Lubs type [RCV002280620] |
ChrX:152372767..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 |
copy number loss |
not provided [RCV001259012] |
ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 |
copy number gain |
See cases [RCV001263024] |
ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 |
copy number gain |
not provided [RCV001260058] |
ChrX:153113943..153624215 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 |
copy number gain |
not provided [RCV001260059] |
ChrX:153135257..153594096 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 |
copy number gain |
not provided [RCV001260062] |
ChrX:152631130..153240286 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number gain |
46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 |
copy number gain |
not provided [RCV001281359] |
ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153858452-154332213)x2 |
copy number gain |
Chromosome Xq28 duplication syndrome [RCV001375670] |
ChrX:153858452..154332213 [GRCh38] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 |
copy number loss |
not provided [RCV001537933] |
ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV001391666] |
ChrX:153128098..153498669 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153905292-154361918) |
copy number gain |
Syndromic X-linked intellectual disability Lubs type [RCV000012611] |
ChrX:153905292..154361918 [GRCh38] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152014869)_(154563736_?)del |
deletion |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]|Dyskeratosis congenita [RCV003105406]|not provided [RCV003105407] |
ChrX:152014869..154563736 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|no classifications from unflagged records |
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 |
copy number loss |
See cases [RCV002285075] |
ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NC_000023.10:g.(?_152014869)_(155171615_?)del |
deletion |
3-Methylglutaconic aciduria type 2 [RCV003119101]|Adrenoleukodystrophy [RCV003119100]|Creatine transporter deficiency [RCV003119103]|Heterotopia, periventricular, X-linked dominant [RCV003109218]|Spastic paraplegia [RCV003109219]|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102] |
ChrX:152014869..155171615 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152014869)_(153363122_?)dup |
duplication |
Adrenoleukodystrophy [RCV003119105]|not provided [RCV003109220] |
ChrX:152014869..153363122 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records |
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) |
copy number loss |
Turner syndrome [RCV002280672] |
ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV001834509] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV001839062] |
ChrX:140888048..154656872 [GRCh38] ChrX:Xq27.1-28 |
pathogenic |
NC_000023.10:g.(?_152986307)_(153593345_?)dup |
duplication |
Heterotopia, periventricular, X-linked dominant [RCV001967054] |
ChrX:152986307..153593345 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153105394-153421839) |
copy number gain |
not specified [RCV002053207] |
ChrX:153105394..153421839 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153093501-153792322)x2 |
copy number gain |
not provided [RCV001834439] |
ChrX:153093501..153792322 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
not provided [RCV001829212] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153113943-153624020) |
copy number gain |
not specified [RCV002053208] |
ChrX:153113943..153624020 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152970475-153524157) |
copy number gain |
not specified [RCV002053204] |
ChrX:152970475..153524157 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152740984-153431748)x2 |
copy number gain |
not provided [RCV001829153] |
ChrX:152740984..153431748 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153135263-153594168) |
copy number gain |
not specified [RCV002053209] |
ChrX:153135263..153594168 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152482081)_(153416424_?)del |
deletion |
Severe neonatal-onset encephalopathy with microcephaly [RCV004581782] |
ChrX:152482081..153416424 [GRCh37] ChrX:Xq28 |
pathogenic |
Single allele |
deletion |
Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] |
ChrX:153427468..156004919 [GRCh38] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153195397)_(153642547_?)dup |
duplication |
Severe neonatal-onset encephalopathy with microcephaly [RCV003113631] |
ChrX:153195397..153642547 [GRCh37] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_152954030)_(153283591_?)dup |
duplication |
Spastic paraplegia [RCV003111187]|not provided [RCV003111188] |
ChrX:152954030..153283591 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records |
NC_000023.10:g.(?_153001546)_(154563736_?)dup |
duplication |
Adrenoleukodystrophy [RCV003119108] |
ChrX:153001546..154563736 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:152815772-153624215) |
copy number gain |
Global developmental delay [RCV002280663] |
ChrX:152815772..153624215 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 |
copy number loss |
See cases [RCV002292203] |
ChrX:142401540..155233731 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 |
copy number loss |
See cases [RCV002286357] |
ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 |
copy number gain |
Klinefelter syndrome [RCV002282732] |
ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 |
copy number loss |
not provided [RCV002474567] |
ChrX:124749464..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
NM_002910.6(RENBP):c.557C>G (p.Ala186Gly) |
single nucleotide variant |
not specified [RCV004245868] |
ChrX:153942985 [GRCh38] ChrX:153208437 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002910.6(RENBP):c.565A>G (p.Met189Val) |
single nucleotide variant |
not specified [RCV004220860] |
ChrX:153942977 [GRCh38] ChrX:153208429 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002910.6(RENBP):c.97G>A (p.Val33Met) |
single nucleotide variant |
not specified [RCV004237191] |
ChrX:153944349 [GRCh38] ChrX:153209801 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002910.6(RENBP):c.1196T>C (p.Met399Thr) |
single nucleotide variant |
not specified [RCV004094123] |
ChrX:153935374 [GRCh38] ChrX:153200827 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002910.6(RENBP):c.464C>T (p.Thr155Met) |
single nucleotide variant |
not specified [RCV004166613] |
ChrX:153943078 [GRCh38] ChrX:153208530 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002910.6(RENBP):c.803G>A (p.Arg268His) |
single nucleotide variant |
not specified [RCV004162320] |
ChrX:153941620 [GRCh38] ChrX:153207073 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002910.6(RENBP):c.1270C>G (p.Arg424Gly) |
single nucleotide variant |
not specified [RCV004158308] |
ChrX:153935300 [GRCh38] ChrX:153200753 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002910.6(RENBP):c.1237C>T (p.Pro413Ser) |
single nucleotide variant |
not specified [RCV004272163] |
ChrX:153935333 [GRCh38] ChrX:153200786 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002910.6(RENBP):c.530G>A (p.Arg177Gln) |
single nucleotide variant |
not specified [RCV004266755] |
ChrX:153943012 [GRCh38] ChrX:153208464 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002910.6(RENBP):c.325C>A (p.Pro109Thr) |
single nucleotide variant |
not specified [RCV004358623] |
ChrX:153943683 [GRCh38] ChrX:153209135 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:152707335-153624154)x2 |
copy number gain |
not provided [RCV003483984] |
ChrX:152707335..153624154 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 |
copy number gain |
not provided [RCV003483986] |
ChrX:152916854..154775938 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 |
copy number loss |
not provided [RCV003483936] |
ChrX:148598351..154943978 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:152941303-153549189)x2 |
copy number gain |
not provided [RCV003483987] |
ChrX:152941303..153549189 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 |
copy number loss |
not provided [RCV003483929] |
ChrX:118576752..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 |
copy number loss |
not provided [RCV003483930] |
ChrX:119071609..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NM_002910.6(RENBP):c.1263C>T (p.Pro421=) |
single nucleotide variant |
not provided [RCV003432643] |
ChrX:153935307 [GRCh38] ChrX:153200760 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) |
copy number loss |
not specified [RCV003986202] |
ChrX:103405294..155233731 [GRCh37] ChrX:Xq22.2-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153200064-153624564) |
copy number gain |
not specified [RCV003986283] |
ChrX:153200064..153624564 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:119395676-154930047) |
copy number loss |
not specified [RCV003986220] |
ChrX:119395676..154930047 [GRCh37] ChrX:Xq24-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153180240-153421839) |
copy number gain |
not specified [RCV003986264] |
ChrX:153180240..153421839 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_002910.6(RENBP):c.286G>T (p.Ala96Ser) |
single nucleotide variant |
not specified [RCV004445882] |
ChrX:153943898 [GRCh38] ChrX:153209350 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.11:g.153670446_154329698dup |
duplication |
Chromosome Xq28 duplication syndrome [RCV003989462] |
ChrX:153670446..154329698 [GRCh38] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1 |
copy number loss |
not provided [RCV004442761] |
ChrX:121656905..155233098 [GRCh37] ChrX:Xq25-28 |
pathogenic |
NM_002910.6(RENBP):c.694G>A (p.Gly232Arg) |
single nucleotide variant |
not specified [RCV004445885] |
ChrX:153942025 [GRCh38] ChrX:153207478 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1 |
copy number loss |
See cases [RCV004442781] |
ChrX:125253445..155233098 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 |
copy number gain |
not provided [RCV003885530] |
ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28 |
pathogenic |
NM_002910.6(RENBP):c.470C>T (p.Ala157Val) |
single nucleotide variant |
not specified [RCV004445883] |
ChrX:153943072 [GRCh38] ChrX:153208524 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002910.6(RENBP):c.469G>A (p.Ala157Thr) |
single nucleotide variant |
not specified [RCV004658109] |
ChrX:153943073 [GRCh38] ChrX:153208525 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_152954030)_(154005142_?)del |
deletion |
3-Methylglutaconic aciduria type 2 [RCV004582960]|Adrenoleukodystrophy [RCV004582961]|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV004582959]|Creatine transporter deficiency [RCV004582962]|Dyskeratosis congenita [RCV004582964]|Spastic paraplegia [RCV004582965]|X-linked Emery-Dreifuss muscular dystrophy [RCV004582963] |
ChrX:152954030..154005142 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 |
copy number gain |
Klinefelter syndrome [RCV004579655] |
ChrX:2757837..156030895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
NM_002910.6(RENBP):c.874C>T (p.His292Tyr) |
single nucleotide variant |
not specified [RCV004658110] |
ChrX:153941549 [GRCh38] ChrX:153207002 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002910.6(RENBP):c.246C>G (p.Phe82Leu) |
single nucleotide variant |
not specified [RCV004658111] |
ChrX:153943938 [GRCh38] ChrX:153209390 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_54610638)_(154689386_?)dup |
duplication |
Hereditary factor VIII deficiency disease [RCV004768478] |
ChrX:54610638..154689386 [GRCh37] ChrX:Xp11.22-q28 |
uncertain significance |
NM_002910.6(RENBP):c.169C>T (p.Arg57Trp) |
single nucleotide variant |
not specified [RCV004863082] |
ChrX:153944124 [GRCh38] ChrX:153209576 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002910.6(RENBP):c.371C>T (p.Pro124Leu) |
single nucleotide variant |
not specified [RCV004863084] |
ChrX:153943637 [GRCh38] ChrX:153209089 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq27.3-28(chrX:145075197-155233731)x1 |
copy number loss |
not provided [RCV004819417] |
ChrX:145075197..155233731 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153135258-153408000)x3 |
copy number gain |
not provided [RCV004819324] |
ChrX:153135258..153408000 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_002910.6(RENBP):c.1072C>T (p.Arg358Cys) |
single nucleotide variant |
not specified [RCV004849965] |
ChrX:153940107 [GRCh38] ChrX:153205560 [GRCh37] ChrX:Xq28 |
uncertain significance |