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 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:10679-156013167)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:10679-156022206)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 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 Xp22.33-11.22(chrX:10679-52809182)x1 |
copy number loss |
See cases [RCV000051026] |
ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22 |
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 Xp11.4-11.23(chrX:41434043-47880733)x1 |
copy number loss |
See cases [RCV000053088] |
ChrX:41434043..47880733 [GRCh38] ChrX:41293296..47619970 [GRCh37] ChrX:41178240..47625076 [NCBI36] ChrX:Xp11.4-11.23 |
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 Xp22.33-11.23(chrX:10679-48344725)x1 |
copy number loss |
See cases [RCV000052981] |
ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 |
copy number loss |
See cases [RCV000053005] |
ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 |
copy number loss |
See cases [RCV000053007] |
ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
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 Xp22.33-11.21(chrX:26102-57302794)x1 |
copy number loss |
See cases [RCV000052990] |
ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 |
copy number loss |
See cases [RCV000052994] |
ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1 |
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 Xp22.33-11.21(chrX:10679-55550898)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] |
ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 |
copy number gain |
See cases [RCV000053817] |
ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22 |
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 Xp22.33-11.21(chrX:70297-58066465)x3 |
copy number gain |
See cases [RCV000239834] |
ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 |
copy number loss |
See cases [RCV000133817] |
ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22 |
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)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: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: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 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 Xp22.33-11.23(chrX:10679-50059388)x1 |
copy number loss |
See cases [RCV000133745] |
ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23 |
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 Xp22.33-q11.1(chrX:10701-62712219)x1 |
copy number loss |
See cases [RCV000134568] |
ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 |
copy number loss |
See cases [RCV000134026] |
ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21 |
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 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 Xp22.31-11.22(chrX:8176030-53962833)x1 |
copy number loss |
See cases [RCV000135305] |
ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22 |
pathogenic |
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 |
copy number gain |
See cases [RCV000134956] |
ChrX:43361870..50931794 [GRCh38] ChrX:43221119..50674794 [GRCh37] ChrX:43106063..50691534 [NCBI36] ChrX:Xp11.3-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 |
copy number gain |
See cases [RCV000134957] |
ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22 |
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 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 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 Xp22.33-q25(chrX:10701-128393708) |
copy number loss |
See cases [RCV000136094] |
ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25 |
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 Xp22.33-q13.3(chrX:10679-76420505)x3 |
copy number gain |
See cases [RCV000137137] |
ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 |
copy number loss |
See cases [RCV000137112] |
ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic|uncertain significance |
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 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 Xp22.33-11.22(chrX:10701-52033734)x1 |
copy number loss |
See cases [RCV000137430] |
ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 |
copy number loss |
See cases [RCV000137552] |
ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 |
copy number loss |
See cases [RCV000137413] |
ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 |
copy number loss |
See cases [RCV000137166] |
ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 |
copy number gain |
See cases [RCV000137271] |
ChrX:44765664..49343053 [GRCh38] ChrX:44624910..49218180 [GRCh37] ChrX:44509854..49105124 [NCBI36] ChrX:Xp11.3-11.23 |
likely pathogenic |
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 |
copy number loss |
See cases [RCV000137886] |
ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3 |
pathogenic |
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 |
copy number loss |
See cases [RCV000138678] |
ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 |
copy number loss |
See cases [RCV000139343] |
ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1 |
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 Xp22.33-q21.31(chrX:10701-88318651)x1 |
copy number loss |
See cases [RCV000139352] |
ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31 |
pathogenic |
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 Xp11.3(chrX:46464096-47419599)x2 |
copy number gain |
See cases [RCV000139661] |
ChrX:46464096..47419599 [GRCh38] ChrX:46323531..47278998 [GRCh37] ChrX:46208475..47163942 [NCBI36] ChrX:Xp11.3 |
uncertain significance |
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 Xp22.33-11.22(chrX:10701-53750424)x1 |
copy number loss |
See cases [RCV000140711] |
ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22 |
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 Xp22.33-11.22(chrX:251879-50289363)x1 |
copy number loss |
See cases [RCV000141741] |
ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 |
copy number gain |
See cases [RCV000141567] |
ChrX:46971389..54130971 [GRCh38] ChrX:46818746..53957191 [GRCh37] ChrX:46703690..54174129 [NCBI36] ChrX:Xp11.3-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 |
copy number loss |
See cases [RCV000142334] |
ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 |
copy number loss |
See cases [RCV000142035] |
ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 |
copy number gain |
See cases [RCV000142134] |
ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24 |
pathogenic |
GRCh38/hg38 Xp11.3-11.23(chrX:44632305-47607180)x2 |
copy number gain |
See cases [RCV000143089] |
ChrX:44632305..47607180 [GRCh38] ChrX:44491551..47466579 [GRCh37] ChrX:44376495..47351523 [NCBI36] ChrX:Xp11.3-11.23 |
likely 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 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 Xp22.33-11.22(chrX:10701-53131191)x1 |
copy number loss |
See cases [RCV000143348] |
ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 |
copy number loss |
See cases [RCV000143130] |
ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21 |
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 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 Xp22.33-11.21(chrX:70297-58066465)x1 |
copy number loss |
See cases [RCV000239814] |
ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
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 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 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 Xp11.3-q21.1(chrX:44734936-79676121)x3 |
copy number gain |
See cases [RCV000240019] |
ChrX:44734936..79676121 [GRCh37] ChrX:Xp11.3-q21.1 |
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 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 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-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 Xp22.2-q25(chrX:11692290-121187337)x2 |
copy number gain |
not provided [RCV000488046] |
ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25 |
uncertain significance |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 |
copy number loss |
not provided [RCV000753273] |
ChrX:60814..48317386 [GRCh37] ChrX:Xp22.33-11.23 |
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 Xp22.33-q28(chrX:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 |
copy number loss |
See cases [RCV000446584] |
ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 |
copy number loss |
See cases [RCV000447092] |
ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 |
copy number loss |
See cases [RCV000447470] |
ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22 |
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 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 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 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
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 Xp22.33-11.1(chrX:168546-58140271)x1 |
copy number loss |
See cases [RCV000447773] |
ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1 |
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 Xp22.33-11.21(chrX:168546-55240087)x1 |
copy number loss |
See cases [RCV000512136] |
ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 |
copy number loss |
See cases [RCV000510437] |
ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp11.23(chrX:46950670-47035430)x2 |
copy number gain |
See cases [RCV000510283] |
ChrX:46950670..47035430 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 |
copy number loss |
See cases [RCV000510382] |
ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 |
copy number loss |
See cases [RCV000510419] |
ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 |
copy number loss |
See cases [RCV000511615] |
ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 |
copy number loss |
See cases [RCV000512022] |
ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 |
copy number loss |
See cases [RCV000512026] |
ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1 |
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 Xp11.23(chrX:46950670-47024580)x4 |
copy number gain |
See cases [RCV000511948] |
ChrX:46950670..47024580 [GRCh37] ChrX:Xp11.23 |
benign |
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 Xp11.3-11.23(chrX:46326268-48801984)x2 |
copy number gain |
See cases [RCV000511234] |
ChrX:46326268..48801984 [GRCh37] ChrX:Xp11.3-11.23 |
likely pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 |
copy number loss |
See cases [RCV000510822] |
ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_152869.4(RGN):c.590A>G (p.Glu197Gly) |
single nucleotide variant |
not specified [RCV004306436] |
ChrX:47091705 [GRCh38] ChrX:46951104 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) |
copy number loss |
See cases [RCV000512142] |
ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 |
copy number loss |
See cases [RCV000512339] |
ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 |
copy number gain |
not provided [RCV000684261] |
ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31 |
pathogenic |
GRCh37/hg19 Xp11.23(chrX:46406614-46942050)x3 |
copy number gain |
not provided [RCV000684328] |
ChrX:46406614..46942050 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp11.23(chrX:46647617-47413846)x2 |
copy number gain |
not provided [RCV000684329] |
ChrX:46647617..47413846 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 |
copy number loss |
not provided [RCV000753275] |
ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 |
copy number loss |
not provided [RCV000753274] |
ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh37/hg19 Xp11.23(chrX:46934309-46967624)x0 |
copy number loss |
not provided [RCV000753531] |
ChrX:46934309..46967624 [GRCh37] ChrX:Xp11.23 |
benign |
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:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [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 |
NC_000023.10:g.36649710_136649711del100000002insG |
indel |
Heterotaxy, visceral, 1, X-linked [RCV000754886] |
ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
pathogenic |
NM_152869.4(RGN):c.404A>T (p.Tyr135Phe) |
single nucleotide variant |
not specified [RCV004317834] |
ChrX:47089833 [GRCh38] ChrX:46949232 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.383A>G (p.Glu128Gly) |
single nucleotide variant |
not specified [RCV004317748] |
ChrX:47089812 [GRCh38] ChrX:46949211 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NC_000023.10:g.(?_45605561)_(46952346_?)del |
deletion |
not provided [RCV001031576] |
ChrX:45605561..46952346 [GRCh37] ChrX:Xp11.3-11.23 |
pathogenic |
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) |
copy number gain |
not provided [RCV000767648] |
ChrX:43507300..48929622 [GRCh37] ChrX:Xp11.3-11.23 |
pathogenic |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787440] |
ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23 |
pathogenic |
46,Y,inv(X)(p21.1q13.3) |
inversion |
Elevated circulating creatine kinase concentration [RCV000856573] |
ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3 |
likely pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 |
copy number loss |
See cases [RCV000790583] |
ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 |
copy number loss |
not provided [RCV000845670] |
ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32 |
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 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 |
copy number loss |
not provided [RCV000846273] |
ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1 |
pathogenic |
NM_152869.4(RGN):c.346+10C>T |
single nucleotide variant |
not provided [RCV000896721] |
ChrX:47084610 [GRCh38] ChrX:46944009 [GRCh37] ChrX:Xp11.3 |
benign |
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 |
copy number loss |
not provided [RCV001007224] |
ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_152869.4(RGN):c.301C>T (p.Arg101Cys) |
single nucleotide variant |
not provided [RCV000958317] |
ChrX:47084555 [GRCh38] ChrX:46943954 [GRCh37] ChrX:Xp11.3 |
benign |
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 Xp11.3-11.23(chrX:46331758-46999539)x2 |
copy number gain |
not provided [RCV001007299] |
ChrX:46331758..46999539 [GRCh37] ChrX:Xp11.3-11.23 |
uncertain significance |
NC_000023.10:g.(?_46719423)_(46952346_?)del |
deletion |
not provided [RCV001031769] |
ChrX:46719423..46952346 [GRCh37] ChrX:Xp11.23 |
pathogenic |
GRCh37/hg19 Xp11.23(chrX:46942052-47379255)x3 |
copy number gain |
not provided [RCV001258952] |
ChrX:46942052..47379255 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 |
copy number loss |
See cases [RCV001263061] |
ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) |
copy number loss |
Turner syndrome [RCV002280671] |
ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NC_000023.10:g.(?_46696536)_(47436910_?)dup |
duplication |
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV001309817] |
ChrX:46696536..47436910 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 |
copy number loss |
not provided [RCV001281358] |
ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21 |
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 |
NM_152869.4(RGN):c.453C>G (p.Asp151Glu) |
single nucleotide variant |
not provided [RCV001528603]|not specified [RCV001727868] |
ChrX:47089882 [GRCh38] ChrX:46949281 [GRCh37] ChrX:Xp11.3 |
benign|likely benign |
Single allele |
complex |
Turner syndrome [RCV002280670] |
ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) |
copy number loss |
Turner syndrome [RCV002280669] |
ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22 |
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 |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
not provided [RCV001829212] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NC_000023.10:g.(?_46618120)_(48549553_?)del |
deletion |
X-linked severe congenital neutropenia [RCV003111118]|not provided [RCV003122288] |
ChrX:46618120..48549553 [GRCh37] ChrX:Xp11.23 |
pathogenic|no classifications from unflagged records |
NC_000023.10:g.(?_46466387)_(50659607_?)del |
deletion |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003116676] |
ChrX:46466387..50659607 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
NC_000023.10:g.(?_46466387)_(47489243_?)del |
deletion |
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003123056] |
ChrX:46466387..47489243 [GRCh37] ChrX:Xp11.23 |
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 Xp22.2-q28(chrX:11522765-155233731)x1 |
copy number loss |
See cases [RCV002286357] |
ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_152869.4(RGN):c.308A>G (p.Asn103Ser) |
single nucleotide variant |
not specified [RCV004332241] |
ChrX:47084562 [GRCh38] ChrX:46943961 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
GRCh37/hg19 Xp11.23(chrX:46780978-47184052)x3 |
copy number gain |
not provided [RCV002473734] |
ChrX:46780978..47184052 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3 |
copy number gain |
not provided [RCV002474503] |
ChrX:39525562..52832596 [GRCh37] ChrX:Xp11.4-11.22 |
pathogenic |
NM_152869.4(RGN):c.181G>C (p.Val61Leu) |
single nucleotide variant |
not specified [RCV004231294] |
ChrX:47084435 [GRCh38] ChrX:46943834 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.685C>T (p.Pro229Ser) |
single nucleotide variant |
not specified [RCV004156463] |
ChrX:47091800 [GRCh38] ChrX:46951199 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.181G>A (p.Val61Met) |
single nucleotide variant |
not specified [RCV004069796] |
ChrX:47084435 [GRCh38] ChrX:46943834 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.787G>A (p.Ala263Thr) |
single nucleotide variant |
not specified [RCV004227031] |
ChrX:47092153 [GRCh38] ChrX:46951552 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.218T>C (p.Ile73Thr) |
single nucleotide variant |
not specified [RCV004232390] |
ChrX:47084472 [GRCh38] ChrX:46943871 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.561C>G (p.Ile187Met) |
single nucleotide variant |
not specified [RCV004073527] |
ChrX:47089990 [GRCh38] ChrX:46949389 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.331G>A (p.Gly111Arg) |
single nucleotide variant |
not specified [RCV004134115] |
ChrX:47084585 [GRCh38] ChrX:46943984 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.43C>T (p.Arg15Trp) |
single nucleotide variant |
not specified [RCV004102861] |
ChrX:47081187 [GRCh38] ChrX:46940586 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.535G>A (p.Asp179Asn) |
single nucleotide variant |
not specified [RCV004221845] |
ChrX:47089964 [GRCh38] ChrX:46949363 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.194A>C (p.Gln65Pro) |
single nucleotide variant |
not specified [RCV004171549] |
ChrX:47084448 [GRCh38] ChrX:46943847 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.541G>A (p.Asp181Asn) |
single nucleotide variant |
not specified [RCV004222421] |
ChrX:47089970 [GRCh38] ChrX:46949369 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.152G>A (p.Arg51Gln) |
single nucleotide variant |
not specified [RCV004075424] |
ChrX:47081296 [GRCh38] ChrX:46940695 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NC_000023.10:g.(?_46466387)_(51241672_?)del |
deletion |
not provided [RCV003154905] |
ChrX:46466387..51241672 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
NM_152869.4(RGN):c.344C>G (p.Ala115Gly) |
single nucleotide variant |
not specified [RCV004256667] |
ChrX:47084598 [GRCh38] ChrX:46943997 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.649G>T (p.Ala217Ser) |
single nucleotide variant |
not specified [RCV004260718] |
ChrX:47091764 [GRCh38] ChrX:46951163 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.646G>A (p.Val216Met) |
single nucleotide variant |
not specified [RCV004265026] |
ChrX:47091761 [GRCh38] ChrX:46951160 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 |
copy number loss |
not provided [RCV003483407] |
ChrX:2696762..53113314 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3 |
copy number gain |
not provided [RCV003485287] |
ChrX:44663115..48237646 [GRCh37] ChrX:Xp11.3-11.23 |
uncertain significance |
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1 |
copy number loss |
not provided [RCV003483920] |
ChrX:36355238..54106257 [GRCh37] ChrX:Xp21.1-11.22 |
pathogenic |
NM_152869.4(RGN):c.330C>T (p.Ala110=) |
single nucleotide variant |
not provided [RCV003438168] |
ChrX:47084584 [GRCh38] ChrX:46943983 [GRCh37] ChrX:Xp11.3 |
likely benign |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) |
copy number loss |
not specified [RCV003986240] |
ChrX:168546..58364114 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) |
copy number loss |
not specified [RCV003986200] |
ChrX:168546..55653170 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_152869.4(RGN):c.349A>G (p.Thr117Ala) |
single nucleotide variant |
not specified [RCV004448908] |
ChrX:47089778 [GRCh38] ChrX:46949177 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.434A>G (p.Lys145Arg) |
single nucleotide variant |
not specified [RCV004448909] |
ChrX:47089863 [GRCh38] ChrX:46949262 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.662G>C (p.Gly221Ala) |
single nucleotide variant |
not specified [RCV004448912] |
ChrX:47091777 [GRCh38] ChrX:46951176 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.790C>T (p.Arg264Trp) |
single nucleotide variant |
not specified [RCV004448913] |
ChrX:47092156 [GRCh38] ChrX:46951555 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.530C>T (p.Ala177Val) |
single nucleotide variant |
not specified [RCV004448910] |
ChrX:47089959 [GRCh38] ChrX:46949358 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.827C>G (p.Pro276Arg) |
single nucleotide variant |
not specified [RCV004448914] |
ChrX:47092193 [GRCh38] ChrX:46951592 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.406T>C (p.Ser136Pro) |
single nucleotide variant |
not specified [RCV004658393] |
ChrX:47089835 [GRCh38] ChrX:46949234 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NC_000023.10:g.(?_46466387)_(51241672_?)dup |
duplication |
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV004580271] |
ChrX:46466387..51241672 [GRCh37] ChrX:Xp11.23-11.22 |
uncertain significance |
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_152869.4(RGN):c.122G>A (p.Arg41Gln) |
single nucleotide variant |
not specified [RCV004658395] |
ChrX:47081266 [GRCh38] ChrX:46940665 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.191G>T (p.Arg64Leu) |
single nucleotide variant |
not specified [RCV004658394] |
ChrX:47084445 [GRCh38] ChrX:46943844 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.362A>G (p.Glu121Gly) |
single nucleotide variant |
not specified [RCV004658396] |
ChrX:47089791 [GRCh38] ChrX:46949190 [GRCh37] ChrX:Xp11.3 |
uncertain significance |
NM_152869.4(RGN):c.569G>A (p.Arg190His) |
single nucleotide variant |
not specified [RCV004671915] |
ChrX:47091684 [GRCh38] ChrX:46951083 [GRCh37] ChrX:Xp11.3 |
uncertain significance |