NM_001145252.3(CFP):c.481C>T (p.Arg161Ter) |
single nucleotide variant |
Properdin deficiency, X-linked [RCV000011931] |
ChrX:47627564 [GRCh38] ChrX:47486963 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001145252.3(CFP):c.298C>T (p.Arg100Trp) |
single nucleotide variant |
Properdin deficiency, type II [RCV000011932]|not provided [RCV002512975] |
ChrX:47628207 [GRCh38] ChrX:47487606 [GRCh37] ChrX:Xp11.23 |
pathogenic|uncertain significance |
NM_001145252.3(CFP):c.893G>T (p.Gly298Val) |
single nucleotide variant |
Properdin deficiency, X-linked [RCV000011933] |
ChrX:47626820 [GRCh38] ChrX:47486219 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001145252.3(CFP):c.617C>G (p.Ser206Ter) |
single nucleotide variant |
Properdin deficiency, X-linked [RCV000011934] |
ChrX:47627290 [GRCh38] ChrX:47486689 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001145252.3(CFP):c.1240T>G (p.Tyr414Asp) |
single nucleotide variant |
Properdin deficiency, type III [RCV000011935] |
ChrX:47626062 [GRCh38] ChrX:47485461 [GRCh37] ChrX:Xp11.23 |
pathogenic |
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:10679-156022206)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)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 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-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 Xp22.33-11.23(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-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: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 Xp22.33-11.21(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-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 Xp22.33-11.22(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: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 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: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-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-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 Xp22.33-11.22(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-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-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 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: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 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 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 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:47437831-47845763)x2 |
copy number gain |
See cases [RCV000143111] |
ChrX:47437831..47845763 [GRCh38] ChrX:47297230..47705162 [GRCh37] ChrX:47182174..47590106 [NCBI36] ChrX:Xp11.3-11.23 |
uncertain significance |
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-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 Xp22.33-11.21(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: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 |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_001145252.3(CFP):c.236G>A (p.Arg79Gln) |
single nucleotide variant |
CFP-related condition [RCV003907834]|not provided [RCV000224231] |
ChrX:47628269 [GRCh38] ChrX:47487668 [GRCh37] ChrX:Xp11.23 |
benign |
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:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [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:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [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:70297-155255839)x3 |
copy number gain |
See cases [RCV000239934] |
ChrX:70297..155255839 [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 Xp22.2-q25(chrX:11692290-121187337)x2 |
copy number gain |
not provided [RCV000488046] |
ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25 |
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-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:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [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-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 Xp22.33-11.22(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:318707-155224707)x1 |
copy number loss |
See cases [RCV000446667] |
ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
See cases [RCV000446932] |
ChrX:168546..155233731 [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:168546-155081533)x3 |
copy number gain |
See cases [RCV000447253] |
ChrX:168546..155081533 [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 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 |
NM_001145252.3(CFP):c.1284C>T (p.Asn428=) |
single nucleotide variant |
not provided [RCV001513028]|not specified [RCV000455084] |
ChrX:47624401 [GRCh38] ChrX:47483800 [GRCh37] ChrX:Xp11.23 |
benign |
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 Xp22.33-11.1(chrX:168546-58527164)x1 |
copy number loss |
See cases [RCV000510437] |
ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1 |
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 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_001145252.3(CFP):c.1237A>G (p.Lys413Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003277669]|not provided [RCV003777084] |
ChrX:47626065 [GRCh38] ChrX:47485464 [GRCh37] ChrX:Xp11.23 |
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 |
NM_001145252.3(CFP):c.18G>A (p.Ala6=) |
single nucleotide variant |
not provided [RCV000659158] |
ChrX:47629827 [GRCh38] ChrX:47489226 [GRCh37] ChrX:Xp11.23 |
likely benign |
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 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 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_001145252.3(CFP):c.1180C>T (p.Pro394Ser) |
single nucleotide variant |
not provided [RCV001730308] |
ChrX:47626122 [GRCh38] ChrX:47485521 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
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: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)x1 |
copy number loss |
not provided [RCV000753271] |
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:60262-155245765)x3 |
copy number gain |
not provided [RCV000753272] |
ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele |
duplication |
Autism [RCV000754365] |
ChrX:1..156040895 [GRCh38] 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 |
NC_000023.10:g.36649710_136649711del100000002insG |
indel |
Heterotaxy, visceral, 1, X-linked [RCV000754886] |
ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
pathogenic |
NM_001145252.3(CFP):c.580G>A (p.Gly194Arg) |
single nucleotide variant |
not provided [RCV001579367] |
ChrX:47627327 [GRCh38] ChrX:47486726 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
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 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_001145252.3(CFP):c.895G>A (p.Asp299Asn) |
single nucleotide variant |
CFP-related condition [RCV003950550]|not provided [RCV000900313] |
ChrX:47626818 [GRCh38] ChrX:47486217 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001145252.3(CFP):c.611C>T (p.Pro204Leu) |
single nucleotide variant |
not provided [RCV000903838] |
ChrX:47627296 [GRCh38] ChrX:47486695 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001145252.3(CFP):c.77-9C>G |
single nucleotide variant |
not provided [RCV000920479] |
ChrX:47629683 [GRCh38] ChrX:47489082 [GRCh37] ChrX:Xp11.23 |
likely benign |
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 |
NM_001145252.3(CFP):c.1133-6T>C |
single nucleotide variant |
not provided [RCV000896813] |
ChrX:47626175 [GRCh38] ChrX:47485574 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.157G>A (p.Val53Met) |
single nucleotide variant |
not provided [RCV000903473] |
ChrX:47629594 [GRCh38] ChrX:47488993 [GRCh37] ChrX:Xp11.23 |
benign |
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 |
NC_000023.10:g.(?_47001716)_(50659607_?)dup |
duplication |
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003122411]|Neurodegeneration with brain iron accumulation 5 [RCV003105408]|SLC35A2-congenital disorder of glycosylation [RCV003122412] |
ChrX:47001716..50659607 [GRCh37] ChrX:Xp11.23-11.22 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) |
copy number gain |
Klinefelter syndrome [RCV003236730] |
ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001145252.3(CFP):c.748G>A (p.Gly250Ser) |
single nucleotide variant |
not provided [RCV000885368] |
ChrX:47627159 [GRCh38] ChrX:47486558 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001145252.3(CFP):c.1083C>T (p.Ala361=) |
single nucleotide variant |
not provided [RCV000941118] |
ChrX:47626377 [GRCh38] ChrX:47485776 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.87C>T (p.Pro29=) |
single nucleotide variant |
not provided [RCV000982518] |
ChrX:47629664 [GRCh38] ChrX:47489063 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.961T>G (p.Trp321Gly) |
single nucleotide variant |
not provided [RCV001091014] |
ChrX:47626499 [GRCh38] ChrX:47485898 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001145252.3(CFP):c.663C>T (p.Ser221=) |
single nucleotide variant |
not provided [RCV000955997] |
ChrX:47627244 [GRCh38] ChrX:47486643 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001145252.3(CFP):c.716C>T (p.Pro239Leu) |
single nucleotide variant |
Properdin deficiency, X-linked [RCV003224510]|not provided [RCV001027815] |
ChrX:47627191 [GRCh38] ChrX:47486590 [GRCh37] ChrX:Xp11.23 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2 |
copy number gain |
not provided [RCV001537899] |
ChrX:47179068..54424785 [GRCh37] ChrX:Xp11.23-11.22 |
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 |
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 |
copy number gain |
Klinefelter syndrome [RCV002282732] |
ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001145252.3(CFP):c.643G>A (p.Glu215Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002568221]|Properdin deficiency, X-linked [RCV001535765]|not provided [RCV001873791] |
ChrX:47627264 [GRCh38] ChrX:47486663 [GRCh37] ChrX:Xp11.23 |
uncertain significance|not provided |
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 |
NM_001145252.3(CFP):c.476G>A (p.Arg159His) |
single nucleotide variant |
Properdin deficiency, X-linked [RCV001267752]|not provided [RCV001879775] |
ChrX:47627569 [GRCh38] ChrX:47486968 [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 |
NM_001145252.3(CFP):c.739A>T (p.Arg247Trp) |
single nucleotide variant |
not provided [RCV001765416] |
ChrX:47627168 [GRCh38] ChrX:47486567 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.470G>A (p.Arg157Gln) |
single nucleotide variant |
Properdin deficiency, X-linked [RCV002476488]|not provided [RCV001318846] |
ChrX:47627575 [GRCh38] ChrX:47486974 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1332G>T (p.Gly444=) |
single nucleotide variant |
not provided [RCV001511338] |
ChrX:47624353 [GRCh38] ChrX:47483752 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001145252.3(CFP):c.121G>A (p.Gly41Ser) |
single nucleotide variant |
CFP-related condition [RCV003921104]|not provided [RCV001514043] |
ChrX:47629630 [GRCh38] ChrX:47489029 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001145252.3(CFP):c.403+9G>A |
single nucleotide variant |
not provided [RCV001517135] |
ChrX:47628093 [GRCh38] ChrX:47487492 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001145252.3(CFP):c.1161del (p.Trp388fs) |
deletion |
not provided [RCV001760540] |
ChrX:47626141 [GRCh38] ChrX:47485540 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.305G>A (p.Arg102Gln) |
single nucleotide variant |
not provided [RCV003238504] |
ChrX:47628200 [GRCh38] ChrX:47487599 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
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 Xp22.33-11.22(chrX:168546-52573789) |
copy number loss |
Turner syndrome [RCV002280669] |
ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
NM_001145252.3(CFP):c.470G>C (p.Arg157Pro) |
single nucleotide variant |
not provided [RCV001964305] |
ChrX:47627575 [GRCh38] ChrX:47486974 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV001834509] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001145252.3(CFP):c.1117A>G (p.Ile373Val) |
single nucleotide variant |
not provided [RCV001914657] |
ChrX:47626343 [GRCh38] ChrX:47485742 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.665G>A (p.Arg222His) |
single nucleotide variant |
CFP-related condition [RCV003976247]|not provided [RCV001895327] |
ChrX:47627242 [GRCh38] ChrX:47486641 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1309C>A (p.Pro437Thr) |
single nucleotide variant |
not provided [RCV001874202] |
ChrX:47624376 [GRCh38] ChrX:47483775 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.517C>G (p.His173Asp) |
single nucleotide variant |
not provided [RCV001895639] |
ChrX:47627528 [GRCh38] ChrX:47486927 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
not provided [RCV001829212] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001145252.3(CFP):c.28C>G (p.Arg10Gly) |
single nucleotide variant |
not provided [RCV002003226] |
ChrX:47629817 [GRCh38] ChrX:47489216 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.640C>G (p.His214Asp) |
single nucleotide variant |
not provided [RCV001942652] |
ChrX:47627267 [GRCh38] ChrX:47486666 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1360C>G (p.Pro454Ala) |
single nucleotide variant |
CFP-related condition [RCV003426279]|not provided [RCV002033728] |
ChrX:47624325 [GRCh38] ChrX:47483724 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.701C>T (p.Pro234Leu) |
single nucleotide variant |
not provided [RCV002048708] |
ChrX:47627206 [GRCh38] ChrX:47486605 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.308G>A (p.Arg103His) |
single nucleotide variant |
not provided [RCV001972891] |
ChrX:47628197 [GRCh38] ChrX:47487596 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1245-10_1245-9insAGGCACTCAATAAGAATTGAATGCATTCTTGCCTTCCCTGAGATTCTCCCTTCCGTTCCTCCCCACCCCTAGGGCCTG |
insertion |
not provided [RCV001920719] |
ChrX:47624449..47624450 [GRCh38] ChrX:47483848..47483849 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.313G>A (p.Val105Met) |
single nucleotide variant |
not provided [RCV002026286] |
ChrX:47628192 [GRCh38] ChrX:47487591 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.847_865del (p.Thr283fs) |
deletion |
not provided [RCV001993263] |
ChrX:47626848..47626866 [GRCh38] ChrX:47486247..47486265 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001145252.3(CFP):c.1348G>A (p.Glu450Lys) |
single nucleotide variant |
not provided [RCV001976278] |
ChrX:47624337 [GRCh38] ChrX:47483736 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.343G>T (p.Val115Leu) |
single nucleotide variant |
not provided [RCV001976477] |
ChrX:47628162 [GRCh38] ChrX:47487561 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.227+2T>G |
single nucleotide variant |
not provided [RCV002019348] |
ChrX:47629522 [GRCh38] ChrX:47488921 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001145252.3(CFP):c.913A>G (p.Ile305Val) |
single nucleotide variant |
not provided [RCV001940250] |
ChrX:47626800 [GRCh38] ChrX:47486199 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.200G>A (p.Arg67His) |
single nucleotide variant |
not provided [RCV001906960] |
ChrX:47629551 [GRCh38] ChrX:47488950 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.530A>G (p.Gln177Arg) |
single nucleotide variant |
not provided [RCV002020098] |
ChrX:47627515 [GRCh38] ChrX:47486914 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.769G>A (p.Ala257Thr) |
single nucleotide variant |
not provided [RCV001958151] |
ChrX:47626944 [GRCh38] ChrX:47486343 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.680C>T (p.Pro227Leu) |
single nucleotide variant |
not provided [RCV001921987] |
ChrX:47627227 [GRCh38] ChrX:47486626 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1320G>A (p.Glu440=) |
single nucleotide variant |
not provided [RCV001995447] |
ChrX:47624365 [GRCh38] ChrX:47483764 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1205C>G (p.Ala402Gly) |
single nucleotide variant |
not provided [RCV001923797] |
ChrX:47626097 [GRCh38] ChrX:47485496 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.469C>T (p.Arg157Trp) |
single nucleotide variant |
not provided [RCV002035749] |
ChrX:47627576 [GRCh38] ChrX:47486975 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.894C>T (p.Gly298=) |
single nucleotide variant |
not provided [RCV001938637] |
ChrX:47626819 [GRCh38] ChrX:47486218 [GRCh37] ChrX:Xp11.23 |
likely benign|uncertain significance |
NM_001145252.3(CFP):c.475C>T (p.Arg159Cys) |
single nucleotide variant |
not provided [RCV001973840] |
ChrX:47627570 [GRCh38] ChrX:47486969 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.977C>T (p.Pro326Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003348732]|not provided [RCV002015415] |
ChrX:47626483 [GRCh38] ChrX:47485882 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.227+18G>C |
single nucleotide variant |
not provided [RCV002149050] |
ChrX:47629506 [GRCh38] ChrX:47488905 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.120C>T (p.Ser40=) |
single nucleotide variant |
not provided [RCV002186122] |
ChrX:47629631 [GRCh38] ChrX:47489030 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.582G>T (p.Gly194=) |
single nucleotide variant |
not provided [RCV002189735] |
ChrX:47627325 [GRCh38] ChrX:47486724 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.575-20C>T |
single nucleotide variant |
not provided [RCV002092528] |
ChrX:47627352 [GRCh38] ChrX:47486751 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.88G>A (p.Val30Met) |
single nucleotide variant |
CFP-related condition [RCV003893124]|not provided [RCV002170374] |
ChrX:47629663 [GRCh38] ChrX:47489062 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001145252.3(CFP):c.658C>A (p.Arg220=) |
single nucleotide variant |
not provided [RCV002165789] |
ChrX:47627249 [GRCh38] ChrX:47486648 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.210G>A (p.Gly70=) |
single nucleotide variant |
not provided [RCV002185236] |
ChrX:47629541 [GRCh38] ChrX:47488940 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.849G>A (p.Thr283=) |
single nucleotide variant |
not provided [RCV002195254] |
ChrX:47626864 [GRCh38] ChrX:47486263 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.228-11C>T |
single nucleotide variant |
not provided [RCV002212795] |
ChrX:47628288 [GRCh38] ChrX:47487687 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.940+7A>G |
single nucleotide variant |
not provided [RCV002172232] |
ChrX:47626766 [GRCh38] ChrX:47486165 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001145252.3(CFP):c.1245-11del |
deletion |
not provided [RCV002153411] |
ChrX:47624451 [GRCh38] ChrX:47483850 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.873T>C (p.His291=) |
single nucleotide variant |
not provided [RCV002078669] |
ChrX:47626840 [GRCh38] ChrX:47486239 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.391C>G (p.Gln131Glu) |
single nucleotide variant |
CFP-related condition [RCV003913763]|not provided [RCV002149885] |
ChrX:47628114 [GRCh38] ChrX:47487513 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001145252.3(CFP):c.985C>T (p.Arg329Ter) |
single nucleotide variant |
not specified [RCV002247072] |
ChrX:47626475 [GRCh38] ChrX:47485874 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1244+19T>C |
single nucleotide variant |
not provided [RCV002143530] |
ChrX:47626039 [GRCh38] ChrX:47485438 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.1374G>A (p.Val458=) |
single nucleotide variant |
not provided [RCV002100895] |
ChrX:47624311 [GRCh38] ChrX:47483710 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.909C>T (p.Thr303=) |
single nucleotide variant |
not provided [RCV002139160] |
ChrX:47626804 [GRCh38] ChrX:47486203 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.699T>A (p.Pro233=) |
single nucleotide variant |
not provided [RCV002176478] |
ChrX:47627208 [GRCh38] ChrX:47486607 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.633T>C (p.Gly211=) |
single nucleotide variant |
not provided [RCV002197701] |
ChrX:47627274 [GRCh38] ChrX:47486673 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.135C>T (p.Gly45=) |
single nucleotide variant |
not provided [RCV002118142] |
ChrX:47629616 [GRCh38] ChrX:47489015 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001145252.3(CFP):c.579C>T (p.His193=) |
single nucleotide variant |
not provided [RCV002100724] |
ChrX:47627328 [GRCh38] ChrX:47486727 [GRCh37] ChrX:Xp11.23 |
likely benign |
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 |
NM_001145252.3(CFP):c.984C>T (p.Ile328=) |
single nucleotide variant |
not provided [RCV003121868] |
ChrX:47626476 [GRCh38] ChrX:47485875 [GRCh37] ChrX:Xp11.23 |
likely benign |
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 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
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 |
Single allele |
complex |
Turner syndrome [RCV002280670] |
ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001145252.3(CFP):c.1369C>T (p.His457Tyr) |
single nucleotide variant |
not provided [RCV002297395] |
ChrX:47624316 [GRCh38] ChrX:47483715 [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_001145252.3(CFP):c.674C>T (p.Ser225Phe) |
single nucleotide variant |
not provided [RCV002304980] |
ChrX:47627233 [GRCh38] ChrX:47486632 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.349C>A (p.Pro117Thr) |
single nucleotide variant |
not provided [RCV002294869] |
ChrX:47628156 [GRCh38] ChrX:47487555 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.472A>G (p.Thr158Ala) |
single nucleotide variant |
not provided [RCV002838757] |
ChrX:47627573 [GRCh38] ChrX:47486972 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.411C>T (p.Gly137=) |
single nucleotide variant |
not provided [RCV002880941] |
ChrX:47627634 [GRCh38] ChrX:47487033 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.1076G>A (p.Arg359Gln) |
single nucleotide variant |
not provided [RCV002816417] |
ChrX:47626384 [GRCh38] ChrX:47485783 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.412G>A (p.Gly138Ser) |
single nucleotide variant |
not provided [RCV002776407] |
ChrX:47627633 [GRCh38] ChrX:47487032 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.141G>C (p.Leu47=) |
single nucleotide variant |
not provided [RCV002756518] |
ChrX:47629610 [GRCh38] ChrX:47489009 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.1244+1G>A |
single nucleotide variant |
not provided [RCV003016641] |
ChrX:47626057 [GRCh38] ChrX:47485456 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.404-10T>C |
single nucleotide variant |
not provided [RCV002795542] |
ChrX:47627651 [GRCh38] ChrX:47487050 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.1179C>T (p.Pro393=) |
single nucleotide variant |
not provided [RCV002740259] |
ChrX:47626123 [GRCh38] ChrX:47485522 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.104A>G (p.Gln35Arg) |
single nucleotide variant |
not provided [RCV002572180] |
ChrX:47629647 [GRCh38] ChrX:47489046 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1301G>C (p.Arg434Thr) |
single nucleotide variant |
not provided [RCV002927276] |
ChrX:47624384 [GRCh38] ChrX:47483783 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.232C>G (p.Pro78Ala) |
single nucleotide variant |
not provided [RCV002735474] |
ChrX:47628273 [GRCh38] ChrX:47487672 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1329A>G (p.Gln443=) |
single nucleotide variant |
not provided [RCV003054063] |
ChrX:47624356 [GRCh38] ChrX:47483755 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.702T>G (p.Pro234=) |
single nucleotide variant |
not provided [RCV002889337] |
ChrX:47627205 [GRCh38] ChrX:47486604 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.1198A>G (p.Thr400Ala) |
single nucleotide variant |
not provided [RCV002761348] |
ChrX:47626104 [GRCh38] ChrX:47485503 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.65T>C (p.Leu22Pro) |
single nucleotide variant |
not provided [RCV003100453] |
ChrX:47629780 [GRCh38] ChrX:47489179 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1174A>C (p.Met392Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002787611] |
ChrX:47626128 [GRCh38] ChrX:47485527 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.263C>A (p.Pro88His) |
single nucleotide variant |
not provided [RCV002982144] |
ChrX:47628242 [GRCh38] ChrX:47487641 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1407C>G (p.Leu469=) |
single nucleotide variant |
not provided [RCV003041128] |
ChrX:47624278 [GRCh38] ChrX:47483677 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.482G>A (p.Arg161Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002916054] |
ChrX:47627563 [GRCh38] ChrX:47486962 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.42G>A (p.Pro14=) |
single nucleotide variant |
not provided [RCV002624727] |
ChrX:47629803 [GRCh38] ChrX:47489202 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.87C>G (p.Pro29=) |
single nucleotide variant |
not provided [RCV002745408] |
ChrX:47629664 [GRCh38] ChrX:47489063 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.964G>A (p.Gly322Arg) |
single nucleotide variant |
not provided [RCV002829513] |
ChrX:47626496 [GRCh38] ChrX:47485895 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1332G>A (p.Gly444=) |
single nucleotide variant |
not provided [RCV003031264] |
ChrX:47624353 [GRCh38] ChrX:47483752 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.255A>G (p.Thr85=) |
single nucleotide variant |
not provided [RCV002647094] |
ChrX:47628250 [GRCh38] ChrX:47487649 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.227+14T>G |
single nucleotide variant |
not provided [RCV002646503] |
ChrX:47629510 [GRCh38] ChrX:47488909 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.209G>A (p.Gly70Glu) |
single nucleotide variant |
not provided [RCV002962791] |
ChrX:47629542 [GRCh38] ChrX:47488941 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.960G>A (p.Ser320=) |
single nucleotide variant |
not provided [RCV002577295] |
ChrX:47626500 [GRCh38] ChrX:47485899 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.709C>T (p.Pro237Ser) |
single nucleotide variant |
not provided [RCV003027976] |
ChrX:47627198 [GRCh38] ChrX:47486597 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.575-3C>T |
single nucleotide variant |
not provided [RCV002745964] |
ChrX:47627335 [GRCh38] ChrX:47486734 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.941-19T>C |
single nucleotide variant |
not provided [RCV002630077] |
ChrX:47626538 [GRCh38] ChrX:47485937 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.227+19T>G |
single nucleotide variant |
not provided [RCV002631895] |
ChrX:47629505 [GRCh38] ChrX:47488904 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.1023G>A (p.Pro341=) |
single nucleotide variant |
not provided [RCV002581011] |
ChrX:47626437 [GRCh38] ChrX:47485836 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.1291T>G (p.Phe431Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002674774]|not provided [RCV003778558] |
ChrX:47624394 [GRCh38] ChrX:47483793 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.44C>T (p.Pro15Leu) |
single nucleotide variant |
not provided [RCV002716703] |
ChrX:47629801 [GRCh38] ChrX:47489200 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.959C>T (p.Ser320Leu) |
single nucleotide variant |
not provided [RCV002811432] |
ChrX:47626501 [GRCh38] ChrX:47485900 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1223C>T (p.Thr408Ile) |
single nucleotide variant |
not provided [RCV002607436] |
ChrX:47626079 [GRCh38] ChrX:47485478 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.865C>T (p.Pro289Ser) |
single nucleotide variant |
not provided [RCV003092993] |
ChrX:47626848 [GRCh38] ChrX:47486247 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.1360C>T (p.Pro454Ser) |
single nucleotide variant |
not provided [RCV002612202] |
ChrX:47624325 [GRCh38] ChrX:47483724 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NC_000023.10:g.(?_46466387)_(51241672_?)del |
deletion |
not provided [RCV003154905] |
ChrX:46466387..51241672 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
NM_001145252.3(CFP):c.766+15G>A |
single nucleotide variant |
not provided [RCV003852884] |
ChrX:47627126 [GRCh38] ChrX:47486525 [GRCh37] ChrX:Xp11.23 |
likely benign |
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_001145252.3(CFP):c.403+8_403+10del |
microsatellite |
not provided [RCV003712671] |
ChrX:47628092..47628094 [GRCh38] ChrX:47487491..47487493 [GRCh37] ChrX:Xp11.23 |
likely benign |
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 |
NM_001145252.3(CFP):c.142G>T (p.Gly48Trp) |
single nucleotide variant |
not provided [RCV003848963] |
ChrX:47629609 [GRCh38] ChrX:47489008 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1177C>G (p.Pro393Ala) |
single nucleotide variant |
not provided [RCV003716603] |
ChrX:47626125 [GRCh38] ChrX:47485524 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.118T>C (p.Ser40Pro) |
single nucleotide variant |
not provided [RCV003695342] |
ChrX:47629633 [GRCh38] ChrX:47489032 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1132+15_1132+16del |
deletion |
not provided [RCV003692972] |
ChrX:47626312..47626313 [GRCh38] ChrX:47485711..47485712 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.599G>A (p.Gly200Asp) |
single nucleotide variant |
not provided [RCV003662077] |
ChrX:47627308 [GRCh38] ChrX:47486707 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.729C>T (p.Tyr243=) |
single nucleotide variant |
not provided [RCV003878612] |
ChrX:47627178 [GRCh38] ChrX:47486577 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.379T>G (p.Cys127Gly) |
single nucleotide variant |
not provided [RCV003662717] |
ChrX:47628126 [GRCh38] ChrX:47487525 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.270G>A (p.Ser90=) |
single nucleotide variant |
not provided [RCV003545879] |
ChrX:47628235 [GRCh38] ChrX:47487634 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.766+2_766+10dup |
duplication |
not provided [RCV003665852] |
ChrX:47627130..47627131 [GRCh38] ChrX:47486529..47486530 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.612C>T (p.Pro204=) |
single nucleotide variant |
not provided [RCV003548442] |
ChrX:47627295 [GRCh38] ChrX:47486694 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.1245-14C>T |
single nucleotide variant |
not provided [RCV003849920] |
ChrX:47624454 [GRCh38] ChrX:47483853 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.1313G>A (p.Arg438Gln) |
single nucleotide variant |
not provided [RCV003559328] |
ChrX:47624372 [GRCh38] ChrX:47483771 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1236C>T (p.Pro412=) |
single nucleotide variant |
not provided [RCV003697951] |
ChrX:47626066 [GRCh38] ChrX:47485465 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.465G>A (p.Gly155=) |
single nucleotide variant |
not provided [RCV003702292] |
ChrX:47627580 [GRCh38] ChrX:47486979 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.468C>G (p.Thr156=) |
single nucleotide variant |
not provided [RCV003702307] |
ChrX:47627577 [GRCh38] ChrX:47486976 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.702T>C (p.Pro234=) |
single nucleotide variant |
not provided [RCV003559572] |
ChrX:47627205 [GRCh38] ChrX:47486604 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.256T>C (p.Trp86Arg) |
single nucleotide variant |
not provided [RCV003672102] |
ChrX:47628249 [GRCh38] ChrX:47487648 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.477C>A (p.Arg159=) |
single nucleotide variant |
not provided [RCV003837033] |
ChrX:47627568 [GRCh38] ChrX:47486967 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.404-6C>G |
single nucleotide variant |
not provided [RCV003851008] |
ChrX:47627647 [GRCh38] ChrX:47487046 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.962G>T (p.Trp321Leu) |
single nucleotide variant |
not provided [RCV003838103] |
ChrX:47626498 [GRCh38] ChrX:47485897 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1244+13G>A |
single nucleotide variant |
not provided [RCV003672051] |
ChrX:47626045 [GRCh38] ChrX:47485444 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.29G>A (p.Arg10Gln) |
single nucleotide variant |
not provided [RCV003717728] |
ChrX:47629816 [GRCh38] ChrX:47489215 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.848C>T (p.Thr283Met) |
single nucleotide variant |
not provided [RCV003847697] |
ChrX:47626865 [GRCh38] ChrX:47486264 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.967G>A (p.Glu323Lys) |
single nucleotide variant |
not provided [RCV003568898] |
ChrX:47626493 [GRCh38] ChrX:47485892 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1301G>A (p.Arg434Lys) |
single nucleotide variant |
not provided [RCV003711266] |
ChrX:47624384 [GRCh38] ChrX:47483783 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.879C>T (p.Gly293=) |
single nucleotide variant |
not provided [RCV003824199] |
ChrX:47626834 [GRCh38] ChrX:47486233 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.427G>A (p.Gly143Arg) |
single nucleotide variant |
not provided [RCV003865787] |
ChrX:47627618 [GRCh38] ChrX:47487017 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.269C>T (p.Ser90Leu) |
single nucleotide variant |
not provided [RCV003821820] |
ChrX:47628236 [GRCh38] ChrX:47487635 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.444C>T (p.Cys148=) |
single nucleotide variant |
not provided [RCV003731666] |
ChrX:47627601 [GRCh38] ChrX:47487000 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.1343T>C (p.Val448Ala) |
single nucleotide variant |
not provided [RCV003821926] |
ChrX:47624342 [GRCh38] ChrX:47483741 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1132+19G>C |
single nucleotide variant |
not provided [RCV003675643] |
ChrX:47626309 [GRCh38] ChrX:47485708 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.1324C>T (p.Leu442=) |
single nucleotide variant |
not provided [RCV003859469] |
ChrX:47624361 [GRCh38] ChrX:47483760 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.77-3C>T |
single nucleotide variant |
not provided [RCV003728956] |
ChrX:47629677 [GRCh38] ChrX:47489076 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.864G>A (p.Val288=) |
single nucleotide variant |
not provided [RCV003841609] |
ChrX:47626849 [GRCh38] ChrX:47486248 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.574+18del |
deletion |
not provided [RCV003868897] |
ChrX:47627453 [GRCh38] ChrX:47486852 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.25C>T (p.Pro9Ser) |
single nucleotide variant |
not provided [RCV003685595] |
ChrX:47629820 [GRCh38] ChrX:47489219 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.227+13C>G |
single nucleotide variant |
not provided [RCV003844179] |
ChrX:47629511 [GRCh38] ChrX:47488910 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.461A>G (p.Lys154Arg) |
single nucleotide variant |
not provided [RCV003685352] |
ChrX:47627584 [GRCh38] ChrX:47486983 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.227+10A>C |
single nucleotide variant |
not provided [RCV003860726] |
ChrX:47629514 [GRCh38] ChrX:47488913 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.941-14C>A |
single nucleotide variant |
not provided [RCV003868904] |
ChrX:47626533 [GRCh38] ChrX:47485932 [GRCh37] ChrX:Xp11.23 |
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 |
NM_001145252.3(CFP):c.404-19C>T |
single nucleotide variant |
not provided [RCV003868365] |
ChrX:47627660 [GRCh38] ChrX:47487059 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.1187G>A (p.Gly396Glu) |
single nucleotide variant |
not provided [RCV003871066] |
ChrX:47626115 [GRCh38] ChrX:47485514 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.348A>T (p.Ala116=) |
single nucleotide variant |
not provided [RCV003818182] |
ChrX:47628157 [GRCh38] ChrX:47487556 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001145252.3(CFP):c.54G>A (p.Leu18=) |
single nucleotide variant |
not provided [RCV003864251] |
ChrX:47629791 [GRCh38] ChrX:47489190 [GRCh37] ChrX:Xp11.23 |
likely benign |
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_001145252.3(CFP):c.664C>T (p.Arg222Cys) |
single nucleotide variant |
not provided [RCV003707783] |
ChrX:47627243 [GRCh38] ChrX:47486642 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.975C>A (p.Ser325Arg) |
single nucleotide variant |
not provided [RCV003675922] |
ChrX:47626485 [GRCh38] ChrX:47485884 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.403+20C>T |
single nucleotide variant |
not provided [RCV003705559] |
ChrX:47628082 [GRCh38] ChrX:47487481 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.1049G>A (p.Cys350Tyr) |
single nucleotide variant |
not provided [RCV003858998] |
ChrX:47626411 [GRCh38] ChrX:47485810 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001145252.3(CFP):c.*2A>T |
single nucleotide variant |
CFP-related condition [RCV003933884] |
ChrX:47624273 [GRCh38] ChrX:47483672 [GRCh37] ChrX:Xp11.23 |
benign |