NM_001830.4(CLCN4):c.944G>A (p.Arg315His) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV001291793]|not provided [RCV001863167] |
ChrX:10208145 [GRCh38] ChrX:10176185 [GRCh37] ChrX:Xp22.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
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 |
NM_001830.4(CLCN4):c.1862A>G (p.Asp621Gly) |
single nucleotide variant |
not provided [RCV000519876] |
ChrX:10213966 [GRCh38] ChrX:10182006 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV000087143]|not provided [RCV000520512] |
ChrX:10213734 [GRCh38] ChrX:10181774 [GRCh37] ChrX:Xp22.2 |
pathogenic|uncertain significance |
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 Xp22.33-22.2(chrX:10679-11240163)x1 |
copy number loss |
See cases [RCV000051034] |
ChrX:10679..11240163 [GRCh38] ChrX:60679..11258283 [GRCh37] ChrX:679..11168204 [NCBI36] ChrX:Xp22.33-22.2 |
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: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 Xp22.31-22.2(chrX:6837101-13719231)x3 |
copy number gain |
See cases [RCV000052360] |
ChrX:6837101..13719231 [GRCh38] ChrX:6755142..13737350 [GRCh37] ChrX:6765142..13647271 [NCBI36] ChrX:Xp22.31-22.2 |
pathogenic |
GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|See cases [RCV000052361] |
ChrX:7992018..14435892 [GRCh38] ChrX:7960059..14454014 [GRCh37] ChrX:7920059..14363935 [NCBI36] ChrX:Xp22.31-22.2 |
pathogenic |
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 |
copy number gain |
See cases [RCV000052362] |
ChrX:9038047..16646589 [GRCh38] ChrX:9006088..16664712 [GRCh37] ChrX:8966088..16574633 [NCBI36] ChrX:Xp22.31-22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 |
copy number gain |
See cases [RCV000052328] |
ChrX:675360..46016699 [GRCh38] ChrX:636095..45876134 [GRCh37] ChrX:556095..45761078 [NCBI36] ChrX:Xp22.33-11.3 |
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 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 Xp22.31-22.2(chrX:8327550-10980235)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053056]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053056]|See cases [RCV000053056] |
ChrX:8327550..10980235 [GRCh38] ChrX:8295591..10998355 [GRCh37] ChrX:8255591..10908276 [NCBI36] ChrX:Xp22.31-22.2 |
pathogenic |
GRCh38/hg38 Xp22.31-22.2(chrX:9540020-13128124)x1 |
copy number loss |
See cases [RCV000053057] |
ChrX:9540020..13128124 [GRCh38] ChrX:9508060..13146243 [GRCh37] ChrX:9468060..13056164 [NCBI36] ChrX:Xp22.31-22.2 |
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: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 Xp22.33-22.2(chrX:3057092-13615172)x1 |
copy number loss |
See cases [RCV000053026] |
ChrX:3057092..13615172 [GRCh38] ChrX:2975133..13633291 [GRCh37] ChrX:2985133..13543212 [NCBI36] ChrX:Xp22.33-22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 |
copy number loss |
See cases [RCV000052993] |
ChrX:253129..23023165 [GRCh38] ChrX:169796..23041282 [GRCh37] ChrX:109796..22951203 [NCBI36] ChrX:Xp22.33-22.11 |
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 Xp22.32-22.2(chrX:4557134-10838424)x1 |
copy number loss |
See cases [RCV000053028] |
ChrX:4557134..10838424 [GRCh38] ChrX:4475175..10856543 [GRCh37] ChrX:4485175..10766464 [NCBI36] ChrX:Xp22.32-22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-22.2(chrX:20140-10259836)x1 |
copy number loss |
See cases [RCV000052983] |
ChrX:20140..10259836 [GRCh38] ChrX:70140..10227876 [GRCh37] ChrX:10140..10187876 [NCBI36] ChrX:Xp22.33-22.2 |
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: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 Xp22.33-22.2(chrX:10679-11803947)x1 |
copy number loss |
See cases [RCV000052968] |
ChrX:10679..11803947 [GRCh38] ChrX:60679..11822066 [GRCh37] ChrX:679..11731987 [NCBI36] ChrX:Xp22.33-22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] |
ChrX:10679..21811030 [GRCh38] ChrX:60679..21829148 [GRCh37] ChrX:679..21739069 [NCBI36] ChrX:Xp22.33-22.12 |
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 |
NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met) |
single nucleotide variant |
not provided [RCV000087194] |
ChrX:10220868 [GRCh38] ChrX:10188908 [GRCh37] ChrX:Xp22.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_001830.4(CLCN4):c.1503G>A (p.Arg501=) |
single nucleotide variant |
not provided [RCV000079722] |
ChrX:10212580 [GRCh38] ChrX:10180620 [GRCh37] ChrX:Xp22.2 |
conflicting interpretations of pathogenicity|uncertain significance |
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-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 Xp22.33-11.21(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: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 Xp22.33-21.1(chrX:233335-37292980)x1 |
copy number loss |
See cases [RCV000135299] |
ChrX:233335..37292980 [GRCh38] ChrX:150002..37152232 [GRCh37] ChrX:90002..37037153 [NCBI36] ChrX:Xp22.33-21.1 |
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 Xp22.33-22.2(chrX:4082541-12772302)x2 |
copy number gain |
See cases [RCV000135636] |
ChrX:4082541..12772302 [GRCh38] ChrX:4000582..12790421 [GRCh37] ChrX:4010582..12700342 [NCBI36] ChrX:Xp22.33-22.2 |
likely pathogenic |
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 |
copy number loss |
See cases [RCV000135551] |
ChrX:10679..36186635 [GRCh38] ChrX:60679..36202463 [GRCh37] ChrX:679..36114673 [NCBI36] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh38/hg38 Xp22.2(chrX:10181602-10812117)x2 |
copy number gain |
See cases [RCV000135604] |
ChrX:10181602..10812117 [GRCh38] ChrX:10149642..10830236 [GRCh37] ChrX:10109642..10740157 [NCBI36] ChrX:Xp22.2 |
uncertain significance |
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 Xp22.33-22.2(chrX:2936461-17287323)x2 |
copy number gain |
See cases [RCV000135895] |
ChrX:2936461..17287323 [GRCh38] ChrX:2854502..17305446 [GRCh37] ChrX:2864502..17215367 [NCBI36] ChrX:Xp22.33-22.2 |
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-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 Xp22.33-11.22(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 Xp22.33-22.2(chrX:10679-16187419)x1 |
copy number loss |
See cases [RCV000137252] |
ChrX:10679..16187419 [GRCh38] ChrX:60679..16205542 [GRCh37] ChrX:679..16115463 [NCBI36] ChrX:Xp22.33-22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 |
copy number gain |
See cases [RCV000137383] |
ChrX:10701..21866242 [GRCh38] ChrX:60701..21884360 [GRCh37] ChrX:701..21794281 [NCBI36] ChrX:Xp22.33-22.12 |
uncertain significance |
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 Xp22.33-21.1(chrX:10701-37723318)x1 |
copy number loss |
See cases [RCV000138019] |
ChrX:10701..37723318 [GRCh38] ChrX:60701..37318587 [GRCh37] ChrX:701..37467510 [NCBI36] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 |
copy number loss |
See cases [RCV000137753] |
ChrX:9239101..16721153 [GRCh38] ChrX:9207141..16739276 [GRCh37] ChrX:9167141..16649197 [NCBI36] ChrX:Xp22.31-22.2 |
uncertain significance |
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 Xp22.33-22.2(chrX:253124-12931344)x1 |
copy number loss |
See cases [RCV000138680] |
ChrX:253124..12931344 [GRCh38] ChrX:169791..12949463 [GRCh37] ChrX:109791..12859384 [NCBI36] ChrX:Xp22.33-22.2 |
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 Xp22.33-11.4(chrX:3909315-38682287)x3 |
copy number gain |
See cases [RCV000141261] |
ChrX:3909315..38682287 [GRCh38] ChrX:3827356..38541541 [GRCh37] ChrX:3837356..38426485 [NCBI36] ChrX:Xp22.33-11.4 |
uncertain significance |
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 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 Xp22.33-22.2(chrX:251879-16967290)x1 |
copy number loss |
See cases [RCV000142053] |
ChrX:251879..16967290 [GRCh38] ChrX:168546..16985413 [GRCh37] ChrX:108546..16895334 [NCBI36] ChrX:Xp22.33-22.2 |
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 Xp22.33-21.1(chrX:251879-35885004)x1 |
copy number loss |
See cases [RCV000143496] |
ChrX:251879..35885004 [GRCh38] ChrX:168546..35903121 [GRCh37] ChrX:108546..35813042 [NCBI36] ChrX:Xp22.33-21.1 |
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 |
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 |
NM_001830.4(CLCN4):c.2043C>T (p.Pro681=) |
single nucleotide variant |
not provided [RCV003718131]|not specified [RCV000193033] |
ChrX:10220728 [GRCh38] ChrX:10188768 [GRCh37] ChrX:Xp22.2 |
likely benign|uncertain significance |
NM_001830.4(CLCN4):c.1630G>C (p.Gly544Arg) |
single nucleotide variant |
CLCN4-related disorder [RCV000239727] |
ChrX:10213734 [GRCh38] ChrX:10181774 [GRCh37] ChrX:Xp22.2 |
pathogenic |
GRCh37/hg19 Xp22.2(chrX:10187807-10189796) |
copy number loss |
CLCN4-related disorder [RCV000239749] |
ChrX:10187807..10189796 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.1389+5G>A |
single nucleotide variant |
CLCN4-related disorder [RCV000239731]|not provided [RCV000999316] |
ChrX:10208595 [GRCh38] ChrX:10176635 [GRCh37] ChrX:Xp22.2 |
pathogenic|uncertain significance |
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp) |
single nucleotide variant |
CLCN4-related disorder [RCV000239734]|Intellectual disability, X-linked 49 [RCV000721130]|See cases [RCV002252041]|not provided [RCV000816910] |
ChrX:10220837 [GRCh38] ChrX:10188877 [GRCh37] ChrX:Xp22.2 |
pathogenic|uncertain significance |
NM_001830.4(CLCN4):c.1601C>T (p.Ser534Leu) |
single nucleotide variant |
CLCN4-related disorder [RCV000239736] |
ChrX:10213705 [GRCh38] ChrX:10181745 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.1876dup (p.Ile626fs) |
duplication |
CLCN4-related disorder [RCV000239738] |
ChrX:10213979..10213980 [GRCh38] ChrX:10182019..10182020 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.635T>G (p.Val212Gly) |
single nucleotide variant |
CLCN4-related disorder [RCV000239752] |
ChrX:10206437 [GRCh38] ChrX:10174477 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.43G>A (p.Asp15Asn) |
single nucleotide variant |
CLCN4-related disorder [RCV000239753]|not provided [RCV000441553] |
ChrX:10185075 [GRCh38] ChrX:10153115 [GRCh37] ChrX:Xp22.2 |
likely pathogenic|uncertain significance |
NM_001830.4(CLCN4):c.823G>A (p.Val275Met) |
single nucleotide variant |
CLCN4-related disorder [RCV000239756]|not provided [RCV000489638] |
ChrX:10206756 [GRCh38] ChrX:10174796 [GRCh37] ChrX:Xp22.2 |
pathogenic|likely pathogenic |
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val) |
single nucleotide variant |
CLCN4-related disorder [RCV000239763]|Inborn genetic diseases [RCV000624793]|Intellectual disability, X-linked 49 [RCV003333742]|not provided [RCV000413507] |
ChrX:10213768 [GRCh38] ChrX:10181808 [GRCh37] ChrX:Xp22.2 |
pathogenic|uncertain significance |
NM_001830.4(CLCN4):c.662T>C (p.Leu221Pro) |
single nucleotide variant |
CLCN4-related disorder [RCV000239766] |
ChrX:10206464 [GRCh38] ChrX:10174504 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.244+4C>T |
single nucleotide variant |
not provided [RCV001066683]|not specified [RCV000193507] |
ChrX:10187618 [GRCh38] ChrX:10155658 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.705C>G (p.Gly235=) |
single nucleotide variant |
not provided [RCV000872242]|not specified [RCV000194552] |
ChrX:10206507 [GRCh38] ChrX:10174547 [GRCh37] ChrX:Xp22.2 |
likely benign|uncertain significance |
NM_001830.4(CLCN4):c.1758G>A (p.Val586=) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV002503753]|not provided [RCV000857902]|not specified [RCV000194636] |
ChrX:10213862 [GRCh38] ChrX:10181902 [GRCh37] ChrX:Xp22.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
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 Xp22.33-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:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001830.4(CLCN4):c.949G>T (p.Val317Phe) |
single nucleotide variant |
not provided [RCV000519254] |
ChrX:10208150 [GRCh38] ChrX:10176190 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2191G>C (p.Gly731Arg) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV000239467] |
ChrX:10220876 [GRCh38] ChrX:10188916 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.1606G>A (p.Val536Met) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV000239489] |
ChrX:10213710 [GRCh38] ChrX:10181750 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV000239527]|not provided [RCV002518545] |
ChrX:10187602 [GRCh38] ChrX:10155642 [GRCh37] ChrX:Xp22.2 |
pathogenic|uncertain significance |
NM_001830.4(CLCN4):c.43_55del (p.Asp15fs) |
deletion |
Intellectual disability, X-linked 49 [RCV000239554] |
ChrX:10185071..10185083 [GRCh38] ChrX:10153111..10153123 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.661C>G (p.Leu221Val) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV000239579] |
ChrX:10206463 [GRCh38] ChrX:10174503 [GRCh37] ChrX:Xp22.2 |
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 Xp22.33-21.1(chrX:71267-35809046)x1 |
copy number loss |
See cases [RCV000240335] |
ChrX:71267..35809046 [GRCh37] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 |
copy number gain |
See cases [RCV000240441] |
ChrX:1378591..25940311 [GRCh37] ChrX:Xp22.33-21.3 |
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 Xp22.33-22.2(chrX:71267-12032064)x1 |
copy number loss |
See cases [RCV000240338] |
ChrX:71267..12032064 [GRCh37] ChrX:Xp22.33-22.2 |
pathogenic |
NM_001830.4(CLCN4):c.1121T>C (p.Ile374Thr) |
single nucleotide variant |
not provided [RCV000489451] |
ChrX:10208322 [GRCh38] ChrX:10176362 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.199G>T (p.Ala67Ser) |
single nucleotide variant |
not provided [RCV003315024] |
ChrX:10187569 [GRCh38] ChrX:10155609 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
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_001830.4(CLCN4):c.130G>A (p.Asp44Asn) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV001270424] |
ChrX:10185162 [GRCh38] ChrX:10153202 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV000585812]|not provided [RCV000802706] |
ChrX:10212653 [GRCh38] ChrX:10180693 [GRCh37] ChrX:Xp22.2 |
likely pathogenic|uncertain significance |
GRCh37/hg19 Xp22.33-22.2(chrX:168546-10368820)x1 |
copy number loss |
See cases [RCV002285049] |
ChrX:168546..10368820 [GRCh37] ChrX:Xp22.33-22.2 |
pathogenic |
NM_001830.4(CLCN4):c.1390-6_1390-4del |
microsatellite |
not provided [RCV002529502]|not specified [RCV000600161] |
ChrX:10212458..10212460 [GRCh38] ChrX:10180498..10180500 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.814A>G (p.Ile272Val) |
single nucleotide variant |
Inborn genetic diseases [RCV000624247] |
ChrX:10206747 [GRCh38] ChrX:10174787 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1390-5T>G |
single nucleotide variant |
not provided [RCV000599009] |
ChrX:10212462 [GRCh38] ChrX:10180502 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) |
copy number gain |
not provided [RCV000767802] |
ChrX:801301..23768392 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
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 Xp22.33-11.3(chrX:168546-43917011)x3 |
copy number gain |
See cases [RCV000449393] |
ChrX:168546..43917011 [GRCh37] ChrX:Xp22.33-11.3 |
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-q28(chrX:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(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:318707-155224707)x1 |
copy number loss |
See cases [RCV000446667] |
ChrX:318707..155224707 [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: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 |
NM_001830.4(CLCN4):c.144+6T>A |
single nucleotide variant |
not provided [RCV003766406]|not specified [RCV000439346] |
ChrX:10185182 [GRCh38] ChrX:10153222 [GRCh37] ChrX:Xp22.2 |
likely benign|uncertain significance |
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_001830.4(CLCN4):c.832A>C (p.Ser278Arg) |
single nucleotide variant |
not provided [RCV001348029] |
ChrX:10206765 [GRCh38] ChrX:10174805 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.712T>C (p.Phe238Leu) |
single nucleotide variant |
not provided [RCV000479604] |
ChrX:10206514 [GRCh38] ChrX:10174554 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1955G>C (p.Arg652Thr) |
single nucleotide variant |
not provided [RCV000480000] |
ChrX:10214059 [GRCh38] ChrX:10182099 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1551A>C (p.Ala517=) |
single nucleotide variant |
CLCN4-related condition [RCV003970341]|not provided [RCV000465509] |
ChrX:10212628 [GRCh38] ChrX:10180668 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1390-4C>T |
single nucleotide variant |
CLCN4-related condition [RCV003972790]|not provided [RCV000465758] |
ChrX:10212463 [GRCh38] ChrX:10180503 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1937T>C (p.Ile646Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV000623220]|not provided [RCV000466524] |
ChrX:10214041 [GRCh38] ChrX:10182081 [GRCh37] ChrX:Xp22.2 |
benign|uncertain significance |
NM_001830.4(CLCN4):c.2184G>A (p.Thr728=) |
single nucleotide variant |
not provided [RCV000466613]|not specified [RCV001821360] |
ChrX:10220869 [GRCh38] ChrX:10188909 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003278834]|Intellectual disability [RCV001260685]|Intellectual disability, X-linked 49 [RCV003333750]|not provided [RCV000484553] |
ChrX:10208150 [GRCh38] ChrX:10176190 [GRCh37] ChrX:Xp22.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_001830.4(CLCN4):c.244+4C>G |
single nucleotide variant |
not provided [RCV000514801] |
ChrX:10187618 [GRCh38] ChrX:10155658 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.1963A>G (p.Ile655Val) |
single nucleotide variant |
not provided [RCV000472727] |
ChrX:10214067 [GRCh38] ChrX:10182107 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.747G>A (p.Glu249=) |
single nucleotide variant |
not provided [RCV000472964] |
ChrX:10206549 [GRCh38] ChrX:10174589 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.265G>A (p.Asp89Asn) |
single nucleotide variant |
not provided [RCV000485624] |
ChrX:10194931 [GRCh38] ChrX:10162971 [GRCh37] ChrX:Xp22.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001830.4(CLCN4):c.1633G>A (p.Gly545Ser) |
single nucleotide variant |
not provided [RCV000482605] |
ChrX:10213737 [GRCh38] ChrX:10181777 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.288G>A (p.Thr96=) |
single nucleotide variant |
not provided [RCV000456249]|not specified [RCV001821361] |
ChrX:10194954 [GRCh38] ChrX:10162994 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.314C>G (p.Ser105Cys) |
single nucleotide variant |
not provided [RCV000457025] |
ChrX:10194980 [GRCh38] ChrX:10163020 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1107G>A (p.Pro369=) |
single nucleotide variant |
not provided [RCV000458713] |
ChrX:10208308 [GRCh38] ChrX:10176348 [GRCh37] ChrX:Xp22.2 |
likely benign |
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 |
copy number loss |
See cases [RCV000510590] |
ChrX:168546..37515849 [GRCh37] ChrX:Xp22.33-21.1 |
pathogenic |
NM_001830.4(CLCN4):c.1465C>A (p.Gln489Lys) |
single nucleotide variant |
not provided [RCV000498862] |
ChrX:10212542 [GRCh38] ChrX:10180582 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_001830.4(CLCN4):c.804T>G (p.Phe268Leu) |
single nucleotide variant |
not provided [RCV000498880] |
ChrX:10206737 [GRCh38] ChrX:10174777 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_001830.4(CLCN4):c.1295G>A (p.Arg432Gln) |
single nucleotide variant |
not provided [RCV002524170]|not specified [RCV000501315] |
ChrX:10208496 [GRCh38] ChrX:10176536 [GRCh37] ChrX:Xp22.2 |
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 Xp22.33-21.1(chrX:168546-35841052)x1 |
copy number loss |
See cases [RCV000510308] |
ChrX:168546..35841052 [GRCh37] ChrX:Xp22.33-21.1 |
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 |
NM_001830.4(CLCN4):c.806G>A (p.Gly269Asp) |
single nucleotide variant |
CLCN4-related disorder [RCV000509195]|not provided [RCV000493438] |
ChrX:10206739 [GRCh38] ChrX:10174779 [GRCh37] ChrX:Xp22.2 |
likely pathogenic|not provided |
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 Xp22.33-21.2(chrX:168546-31085327)x1 |
copy number loss |
See cases [RCV000511350] |
ChrX:168546..31085327 [GRCh37] ChrX:Xp22.33-21.2 |
pathogenic |
GRCh37/hg19 Xp22.31-22.2(chrX:6954111-10636640)x1 |
copy number loss |
See cases [RCV000511565] |
ChrX:6954111..10636640 [GRCh37] ChrX:Xp22.31-22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1A>G (p.Met1Val) |
single nucleotide variant |
not provided [RCV000578600] |
ChrX:10185033 [GRCh38] ChrX:10153073 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) |
copy number gain |
See cases [RCV000512020] |
ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 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_001830.4(CLCN4):c.563C>T (p.Thr188Ile) |
single nucleotide variant |
not provided [RCV003313393] |
ChrX:10206365 [GRCh38] ChrX:10174405 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1634G>A (p.Gly545Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV000623174] |
ChrX:10213738 [GRCh38] ChrX:10181778 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 |
copy number gain |
See cases [RCV000512204] |
ChrX:168546..24780527 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
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 |
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV000622286]|Intellectual disability, X-linked 49 [RCV002265823]|See cases [RCV001420260]|not provided [RCV001860454] |
ChrX:10220838 [GRCh38] ChrX:10188878 [GRCh37] ChrX:Xp22.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
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_001830.4(CLCN4):c.822C>T (p.Gly274=) |
single nucleotide variant |
not provided [RCV000659141] |
ChrX:10206755 [GRCh38] ChrX:10174795 [GRCh37] ChrX:Xp22.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001830.4(CLCN4):c.1678A>G (p.Lys560Glu) |
single nucleotide variant |
not provided [RCV000659142] |
ChrX:10213782 [GRCh38] ChrX:10181822 [GRCh37] ChrX:Xp22.2 |
likely pathogenic|uncertain significance |
NM_001830.4(CLCN4):c.1829C>T (p.Ser610Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002536322]|not provided [RCV000658123] |
ChrX:10213933 [GRCh38] ChrX:10181973 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1648G>A (p.Val550Met) |
single nucleotide variant |
not provided [RCV000658163] |
ChrX:10213752 [GRCh38] ChrX:10181792 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 |
copy number gain |
not provided [RCV000684187] |
ChrX:201704..20682168 [GRCh37] ChrX:Xp22.33-22.12 |
pathogenic |
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 |
copy number loss |
not provided [RCV000684182] |
ChrX:168546..18601364 [GRCh37] ChrX:Xp22.33-22.13 |
pathogenic |
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 |
copy number loss |
not provided [RCV000684184] |
ChrX:168546..43248706 [GRCh37] ChrX:Xp22.33-11.3 |
pathogenic |
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 |
copy number loss |
not provided [RCV000684181] |
ChrX:168546..16404364 [GRCh37] ChrX:Xp22.33-22.2 |
pathogenic |
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 |
copy number loss |
not provided [RCV000684183] |
ChrX:168546..23785738 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 |
copy number loss |
not provided [RCV000684185] |
ChrX:168546..46908284 [GRCh37] ChrX:Xp22.33-11.23 |
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 Xp22.33-11.22(chrX:60814-51821765)x1 |
copy number loss |
not provided [RCV000753274] |
ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
CLCN4, ARG718TRP |
single nucleotide variant |
Mental retardation 49, X-linked [RCV000721130] |
ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.*93T>C |
single nucleotide variant |
not provided [RCV001546171] |
ChrX:10233677 [GRCh38] ChrX:10201717 [GRCh37] ChrX:Xp22.2 |
likely benign |
GRCh37/hg19 Xp22.2(chrX:9822921-10818845)x2 |
copy number gain |
not provided [RCV000753375] |
ChrX:9822921..10818845 [GRCh37] ChrX:Xp22.2 |
benign |
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: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 |
Single allele |
duplication |
Autism [RCV000754363] |
ChrX:10000..22474705 [GRCh38] ChrX:Xp22.33-22.11 |
likely 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:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [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 |
NM_001830.4(CLCN4):c.1887C>T (p.Thr629=) |
single nucleotide variant |
not provided [RCV000871182] |
ChrX:10213991 [GRCh38] ChrX:10182031 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.2102C>T (p.Pro701Leu) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV001724791] |
ChrX:10220787 [GRCh38] ChrX:10188827 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1576+186_1576+187insCACACACACACACACACACACACA |
microsatellite |
not provided [RCV001583360] |
ChrX:10212837..10212838 [GRCh38] ChrX:10180877..10180878 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.264C>T (p.Ile88=) |
single nucleotide variant |
not provided [RCV000862506] |
ChrX:10194930 [GRCh38] ChrX:10162970 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.432+29G>A |
single nucleotide variant |
not provided [RCV001534506] |
ChrX:10195127 [GRCh38] ChrX:10163167 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.433-6G>T |
single nucleotide variant |
not provided [RCV000939855] |
ChrX:10197933 [GRCh38] ChrX:10165973 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2100C>A (p.Ser700Arg) |
single nucleotide variant |
not provided [RCV000762604] |
ChrX:10220785 [GRCh38] ChrX:10188825 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1576+186_1576+187insCACACACACACACACACACACACACA |
microsatellite |
not provided [RCV001569028] |
ChrX:10212837..10212838 [GRCh38] ChrX:10180877..10180878 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2000G>A (p.Gly667Asp) |
single nucleotide variant |
Global developmental delay [RCV001553541]|Intellectual disability, X-linked 49 [RCV003147636]|not provided [RCV001773771] |
ChrX:10220685 [GRCh38] ChrX:10188725 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 |
copy number loss |
not provided [RCV001007223] |
ChrX:537158..22883547 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
NM_001830.4(CLCN4):c.843+131TTTTGT[6] |
microsatellite |
not provided [RCV001680943] |
ChrX:10206906..10206907 [GRCh38] ChrX:10174946..10174947 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.860C>T (p.Pro287Leu) |
single nucleotide variant |
not provided [RCV002001583] |
ChrX:10208061 [GRCh38] ChrX:10176101 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.556-259G>A |
single nucleotide variant |
not provided [RCV001681502] |
ChrX:10206099 [GRCh38] ChrX:10174139 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1389+80G>A |
single nucleotide variant |
not provided [RCV001679416] |
ChrX:10208670 [GRCh38] ChrX:10176710 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1701G>C (p.Gly567=) |
single nucleotide variant |
not provided [RCV000981553] |
ChrX:10213805 [GRCh38] ChrX:10181845 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.930C>T (p.Pro310=) |
single nucleotide variant |
not provided [RCV000943650] |
ChrX:10208131 [GRCh38] ChrX:10176171 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1830G>A (p.Ser610=) |
single nucleotide variant |
not provided [RCV000864905] |
ChrX:10213934 [GRCh38] ChrX:10181974 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.663T>C (p.Leu221=) |
single nucleotide variant |
not provided [RCV000878933] |
ChrX:10206465 [GRCh38] ChrX:10174505 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2031G>A (p.Thr677=) |
single nucleotide variant |
CLCN4-related condition [RCV003938248]|not provided [RCV000863670] |
ChrX:10220716 [GRCh38] ChrX:10188756 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.231C>T (p.Ile77=) |
single nucleotide variant |
not provided [RCV000865023] |
ChrX:10187601 [GRCh38] ChrX:10155641 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2127G>C (p.Pro709=) |
single nucleotide variant |
not provided [RCV000870472] |
ChrX:10220812 [GRCh38] ChrX:10188852 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.306C>G (p.Val102=) |
single nucleotide variant |
not provided [RCV000937124] |
ChrX:10194972 [GRCh38] ChrX:10163012 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.844-8C>G |
single nucleotide variant |
not provided [RCV000945828] |
ChrX:10208037 [GRCh38] ChrX:10176077 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.1854T>A (p.Thr618=) |
single nucleotide variant |
not provided [RCV000946370] |
ChrX:10213958 [GRCh38] ChrX:10181998 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1062C>T (p.Ile354=) |
single nucleotide variant |
not provided [RCV000865520] |
ChrX:10208263 [GRCh38] ChrX:10176303 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.912G>A (p.Thr304=) |
single nucleotide variant |
not provided [RCV000883556] |
ChrX:10208113 [GRCh38] ChrX:10176153 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1401C>T (p.Gly467=) |
single nucleotide variant |
not provided [RCV000868033] |
ChrX:10212478 [GRCh38] ChrX:10180518 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1566G>A (p.Ala522=) |
single nucleotide variant |
not provided [RCV000867249] |
ChrX:10212643 [GRCh38] ChrX:10180683 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1479T>C (p.His493=) |
single nucleotide variant |
not provided [RCV000868127] |
ChrX:10212556 [GRCh38] ChrX:10180596 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.2136G>A (p.Thr712=) |
single nucleotide variant |
not provided [RCV001050222] |
ChrX:10220821 [GRCh38] ChrX:10188861 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
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 |
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 |
copy number gain |
not provided [RCV001007235] |
ChrX:1240318..20986848 [GRCh37] ChrX:Xp22.33-22.12 |
pathogenic |
NM_001830.3:c.-11-?_*4076+?dup |
duplication |
not provided [RCV001034274] |
|
likely benign |
NM_001830.4(CLCN4):c.1319C>T (p.Thr440Met) |
single nucleotide variant |
not provided [RCV001039515] |
ChrX:10208520 [GRCh38] ChrX:10176560 [GRCh37] ChrX:Xp22.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001830.4(CLCN4):c.1399G>A (p.Gly467Ser) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV000995508]|not provided [RCV002549913] |
ChrX:10212476 [GRCh38] ChrX:10180516 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_001830.4(CLCN4):c.844G>C (p.Val282Leu) |
single nucleotide variant |
not provided [RCV001043511] |
ChrX:10208045 [GRCh38] ChrX:10176085 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.10G>T (p.Ala4Ser) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV000767936]|not provided [RCV001321811] |
ChrX:10185042 [GRCh38] ChrX:10153082 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.274G>A (p.Val92Met) |
single nucleotide variant |
not provided [RCV000782085] |
ChrX:10194940 [GRCh38] ChrX:10162980 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.984C>T (p.Tyr328=) |
single nucleotide variant |
not provided [RCV000867052] |
ChrX:10208185 [GRCh38] ChrX:10176225 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1458C>T (p.Gly486=) |
single nucleotide variant |
not provided [RCV000861293] |
ChrX:10212535 [GRCh38] ChrX:10180575 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.108A>G (p.Leu36=) |
single nucleotide variant |
not provided [RCV000931132] |
ChrX:10185140 [GRCh38] ChrX:10153180 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1008C>A (p.Ile336=) |
single nucleotide variant |
not provided [RCV000939154] |
ChrX:10208209 [GRCh38] ChrX:10176249 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1398G>A (p.Ser466=) |
single nucleotide variant |
not provided [RCV000863053] |
ChrX:10212475 [GRCh38] ChrX:10180515 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.2158C>T (p.Leu720=) |
single nucleotide variant |
not provided [RCV000921010] |
ChrX:10220843 [GRCh38] ChrX:10188883 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.627C>G (p.Val209=) |
single nucleotide variant |
not provided [RCV000931526] |
ChrX:10206429 [GRCh38] ChrX:10174469 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1392C>T (p.Ile464=) |
single nucleotide variant |
not provided [RCV000866644] |
ChrX:10212469 [GRCh38] ChrX:10180509 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.651C>T (p.Ser217=) |
single nucleotide variant |
not provided [RCV000863358] |
ChrX:10206453 [GRCh38] ChrX:10174493 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.948C>T (p.Leu316=) |
single nucleotide variant |
CLCN4-related condition [RCV003965730]|not provided [RCV000869304] |
ChrX:10208149 [GRCh38] ChrX:10176189 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.1431G>A (p.Ala477=) |
single nucleotide variant |
not provided [RCV000939938] |
ChrX:10212508 [GRCh38] ChrX:10180548 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1576+9A>T |
single nucleotide variant |
CLCN4-related condition [RCV003970492]|not provided [RCV000921996] |
ChrX:10212662 [GRCh38] ChrX:10180702 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.78G>A (p.Thr26=) |
single nucleotide variant |
not provided [RCV000863722] |
ChrX:10185110 [GRCh38] ChrX:10153150 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.2030C>T (p.Thr677Met) |
single nucleotide variant |
CLCN4-related condition [RCV003965660]|Intellectual disability, X-linked 49 [RCV002501218]|not provided [RCV000862975] |
ChrX:10220715 [GRCh38] ChrX:10188755 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.871T>C (p.Leu291=) |
single nucleotide variant |
not provided [RCV000865762] |
ChrX:10208072 [GRCh38] ChrX:10176112 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.270C>T (p.Leu90=) |
single nucleotide variant |
not provided [RCV000872660] |
ChrX:10194936 [GRCh38] ChrX:10162976 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1716C>T (p.Tyr572=) |
single nucleotide variant |
not provided [RCV000869723] |
ChrX:10213820 [GRCh38] ChrX:10181860 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.244+5G>A |
single nucleotide variant |
not provided [RCV000802024] |
ChrX:10187619 [GRCh38] ChrX:10155659 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1296G>T (p.Arg432=) |
single nucleotide variant |
not provided [RCV000937542] |
ChrX:10208497 [GRCh38] ChrX:10176537 [GRCh37] ChrX:Xp22.2 |
likely benign |
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 Xp22.33-11.4(chrX:168546-38054739)x1 |
copy number loss |
not provided [RCV000845671] |
ChrX:168546..38054739 [GRCh37] ChrX:Xp22.33-11.4 |
pathogenic |
NM_001830.4(CLCN4):c.1078C>T (p.Arg360Cys) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333757]|not provided [RCV000816809] |
ChrX:10208279 [GRCh38] ChrX:10176319 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 |
copy number loss |
not provided [RCV001007559] |
ChrX:168546..34753512 [GRCh37] ChrX:Xp22.33-21.1 |
pathogenic |
NM_001830.4(CLCN4):c.1298C>T (p.Pro433Leu) |
single nucleotide variant |
not provided [RCV001055263] |
ChrX:10208499 [GRCh38] ChrX:10176539 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1253A>G (p.Asn418Ser) |
single nucleotide variant |
not provided [RCV001059004] |
ChrX:10208454 [GRCh38] ChrX:10176494 [GRCh37] ChrX:Xp22.2 |
benign|uncertain significance |
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 |
copy number gain |
not provided [RCV000849574] |
ChrX:2190434..23795839 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
NM_001830.4(CLCN4):c.1577-6T>C |
single nucleotide variant |
not provided [RCV000864192] |
ChrX:10213675 [GRCh38] ChrX:10181715 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1395G>A (p.Pro465=) |
single nucleotide variant |
not provided [RCV000864537] |
ChrX:10212472 [GRCh38] ChrX:10180512 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1051C>G (p.Arg351Gly) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV002226741]|not provided [RCV000815531] |
ChrX:10208252 [GRCh38] ChrX:10176292 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1577-7_1577-6del |
deletion |
not provided [RCV000862488] |
ChrX:10213673..10213674 [GRCh38] ChrX:10181713..10181714 [GRCh37] ChrX:Xp22.2 |
likely benign |
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 |
NM_001830.4(CLCN4):c.1548C>T (p.Tyr516=) |
single nucleotide variant |
CLCN4-related condition [RCV003948076]|not provided [RCV000862640] |
ChrX:10212625 [GRCh38] ChrX:10180665 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787440] |
ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23 |
pathogenic |
NM_001830.4(CLCN4):c.758G>T (p.Arg253Leu) |
single nucleotide variant |
not provided [RCV001055285] |
ChrX:10206560 [GRCh38] ChrX:10174600 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2003T>C (p.Ile668Thr) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV002489643]|not provided [RCV001055778] |
ChrX:10220688 [GRCh38] ChrX:10188728 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.2(chrX:10204986-10291450)x1 |
copy number loss |
not provided [RCV000847395] |
ChrX:10204986..10291450 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.59C>A (p.Pro20Gln) |
single nucleotide variant |
not provided [RCV000999315] |
ChrX:10185091 [GRCh38] ChrX:10153131 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 |
copy number gain |
not provided [RCV000847649] |
ChrX:2703632..14129100 [GRCh37] ChrX:Xp22.33-22.2 |
pathogenic |
NM_001830.4(CLCN4):c.2084G>A (p.Arg695His) |
single nucleotide variant |
not provided [RCV001206299]|not specified [RCV001175412] |
ChrX:10220769 [GRCh38] ChrX:10188809 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1321G>A (p.Ala441Thr) |
single nucleotide variant |
not provided [RCV001226309] |
ChrX:10208522 [GRCh38] ChrX:10176562 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1229C>T (p.Ser410Phe) |
single nucleotide variant |
not provided [RCV001208562] |
ChrX:10208430 [GRCh38] ChrX:10176470 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1717G>A (p.Glu573Lys) |
single nucleotide variant |
not provided [RCV001248385] |
ChrX:10213821 [GRCh38] ChrX:10181861 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1369A>G (p.Ile457Val) |
single nucleotide variant |
not provided [RCV001216360] |
ChrX:10208570 [GRCh38] ChrX:10176610 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1185C>T (p.Ser395=) |
single nucleotide variant |
not provided [RCV001235724] |
ChrX:10208386 [GRCh38] ChrX:10176426 [GRCh37] ChrX:Xp22.2 |
likely benign|uncertain significance |
NM_001830.4(CLCN4):c.304G>T (p.Val102Phe) |
single nucleotide variant |
not provided [RCV001226024] |
ChrX:10194970 [GRCh38] ChrX:10163010 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp) |
single nucleotide variant |
CLCN4-related condition [RCV003393906]|Intellectual disability, X-linked 49 [RCV002250736]|not provided [RCV001238848] |
ChrX:10220852 [GRCh38] ChrX:10188892 [GRCh37] ChrX:Xp22.2 |
likely pathogenic|uncertain significance |
NM_001830.4(CLCN4):c.340T>C (p.Cys114Arg) |
single nucleotide variant |
not provided [RCV001219273] |
ChrX:10195006 [GRCh38] ChrX:10163046 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
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-q11.1(chrX:168546-61877279)x1 |
copy number loss |
not provided [RCV000846273] |
ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) |
copy number gain |
Klinefelter syndrome [RCV003236730] |
ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001830.4(CLCN4):c.145-42G>A |
single nucleotide variant |
not provided [RCV001549987] |
ChrX:10187473 [GRCh38] ChrX:10155513 [GRCh37] ChrX:Xp22.2 |
likely benign |
NC_000023.10:g.(?_8501036)_(11318732_?)del |
deletion |
not provided [RCV003107483] |
ChrX:8501036..11318732 [GRCh37] ChrX:Xp22.31-22.2 |
pathogenic |
NC_000023.10:g.(?_10181701)_(10201624_?)dup |
duplication |
not provided [RCV003107484] |
ChrX:10181701..10201624 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.177G>A (p.Glu59=) |
single nucleotide variant |
not provided [RCV001567587] |
ChrX:10187547 [GRCh38] ChrX:10155587 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.843+129dup |
duplication |
not provided [RCV001671230] |
ChrX:10206895..10206896 [GRCh38] ChrX:10174935..10174936 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.843+131TTTTGT[5] |
microsatellite |
not provided [RCV001657429] |
ChrX:10206906..10206907 [GRCh38] ChrX:10174946..10174947 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1576+186_1576+187insCACACACACACACACACA |
microsatellite |
not provided [RCV001657435] |
ChrX:10212837..10212838 [GRCh38] ChrX:10180877..10180878 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1390-208C>T |
single nucleotide variant |
not provided [RCV001681565] |
ChrX:10212259 [GRCh38] ChrX:10180299 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.613C>A (p.Leu205Ile) |
single nucleotide variant |
not provided [RCV001581555] |
ChrX:10206415 [GRCh38] ChrX:10174455 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1577-204T>G |
single nucleotide variant |
not provided [RCV001557825] |
ChrX:10213477 [GRCh38] ChrX:10181517 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1888G>A (p.Asp630Asn) |
single nucleotide variant |
not provided [RCV001571963] |
ChrX:10213992 [GRCh38] ChrX:10182032 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1969G>T (p.Ala657Ser) |
single nucleotide variant |
not provided [RCV001552363] |
ChrX:10214073 [GRCh38] ChrX:10182113 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1480C>A (p.His494Asn) |
single nucleotide variant |
not provided [RCV001558904] |
ChrX:10212557 [GRCh38] ChrX:10180597 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.652G>A (p.Gly218Ser) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003146222]|not provided [RCV001590588] |
ChrX:10206454 [GRCh38] ChrX:10174494 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.144+158A>G |
single nucleotide variant |
not provided [RCV001620852] |
ChrX:10185334 [GRCh38] ChrX:10153374 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.2283G>A (p.Ter761=) |
single nucleotide variant |
not provided [RCV000978018] |
ChrX:10233584 [GRCh38] ChrX:10201624 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1647C>A (p.Ile549=) |
single nucleotide variant |
not provided [RCV000862154] |
ChrX:10213751 [GRCh38] ChrX:10181791 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1863C>T (p.Asp621=) |
single nucleotide variant |
not provided [RCV000862421] |
ChrX:10213967 [GRCh38] ChrX:10182007 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.1980C>T (p.Asn660=) |
single nucleotide variant |
CLCN4-related condition [RCV003943049]|not provided [RCV000952224] |
ChrX:10220665 [GRCh38] ChrX:10188705 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.1518C>T (p.Pro506=) |
single nucleotide variant |
not provided [RCV000979779] |
ChrX:10212595 [GRCh38] ChrX:10180635 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1363G>A (p.Val455Ile) |
single nucleotide variant |
not provided [RCV000862206] |
ChrX:10208564 [GRCh38] ChrX:10176604 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1819C>T (p.Pro607Ser) |
single nucleotide variant |
Microcephaly [RCV001252697]|not provided [RCV000863314] |
ChrX:10213923 [GRCh38] ChrX:10181963 [GRCh37] ChrX:Xp22.2 |
benign|likely benign|uncertain significance |
NM_001830.4(CLCN4):c.18G>A (p.Ala6=) |
single nucleotide variant |
not provided [RCV000867376] |
ChrX:10185050 [GRCh38] ChrX:10153090 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.363C>G (p.Thr121=) |
single nucleotide variant |
CLCN4-related condition [RCV003908193]|not provided [RCV000863509] |
ChrX:10195029 [GRCh38] ChrX:10163069 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1536G>A (p.Thr512=) |
single nucleotide variant |
not provided [RCV000937165] |
ChrX:10212613 [GRCh38] ChrX:10180653 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1764C>T (p.Asp588=) |
single nucleotide variant |
not provided [RCV000873043] |
ChrX:10213868 [GRCh38] ChrX:10181908 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.165G>A (p.Glu55=) |
single nucleotide variant |
not provided [RCV000918152] |
ChrX:10187535 [GRCh38] ChrX:10155575 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1695A>G (p.Ala565=) |
single nucleotide variant |
not provided [RCV000873294] |
ChrX:10213799 [GRCh38] ChrX:10181839 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.145-4C>A |
single nucleotide variant |
CLCN4-related condition [RCV003965631]|not provided [RCV000861021] |
ChrX:10187511 [GRCh38] ChrX:10155551 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.12G>A (p.Ala4=) |
single nucleotide variant |
not provided [RCV000938610] |
ChrX:10185044 [GRCh38] ChrX:10153084 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1576+5G>A |
single nucleotide variant |
CLCN4-related condition [RCV003975399]|not provided [RCV000864175] |
ChrX:10212658 [GRCh38] ChrX:10180698 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.1575C>T (p.Leu525=) |
single nucleotide variant |
not provided [RCV000861991] |
ChrX:10212652 [GRCh38] ChrX:10180692 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.2021T>C (p.Met674Thr) |
single nucleotide variant |
not provided [RCV001071627] |
ChrX:10220706 [GRCh38] ChrX:10188746 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.584_585delinsCA (p.Ile195Thr) |
indel |
not provided [RCV001223889] |
ChrX:10206386..10206387 [GRCh38] ChrX:10174426..10174427 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.844-9T>G |
single nucleotide variant |
not provided [RCV000934703] |
ChrX:10208036 [GRCh38] ChrX:10176076 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.486G>A (p.Leu162=) |
single nucleotide variant |
not provided [RCV000912778] |
ChrX:10197992 [GRCh38] ChrX:10166032 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1872G>C (p.Thr624=) |
single nucleotide variant |
not provided [RCV003011743] |
ChrX:10213976 [GRCh38] ChrX:10182016 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.555+97A>C |
single nucleotide variant |
not provided [RCV001659533] |
ChrX:10198158 [GRCh38] ChrX:10166198 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.914T>C (p.Leu305Pro) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV002470187] |
ChrX:10208115 [GRCh38] ChrX:10176155 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1576+185_1576+186dup |
duplication |
not provided [RCV001717521] |
ChrX:10212837..10212838 [GRCh38] ChrX:10180877..10180878 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1389+151A>G |
single nucleotide variant |
not provided [RCV001657556] |
ChrX:10208741 [GRCh38] ChrX:10176781 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1904C>G (p.Pro635Arg) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333783] |
ChrX:10214008 [GRCh38] ChrX:10182048 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.206C>T (p.Ser69Leu) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333791]|not provided [RCV003094174] |
ChrX:10187576 [GRCh38] ChrX:10155616 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.840A>T (p.Glu280Asp) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333801] |
ChrX:10206773 [GRCh38] ChrX:10174813 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_001830.4(CLCN4):c.1576+186_1576+187insCACACACACACACACACACACA |
microsatellite |
not provided [RCV001559712] |
ChrX:10212837..10212838 [GRCh38] ChrX:10180877..10180878 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1975+294T>C |
single nucleotide variant |
not provided [RCV001649408] |
ChrX:10214373 [GRCh38] ChrX:10182413 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.956T>C (p.Phe319Ser) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333779] |
ChrX:10208157 [GRCh38] ChrX:10176197 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1025G>A (p.Gly342Glu) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333780] |
ChrX:10208226 [GRCh38] ChrX:10176266 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1185C>G (p.Ser395Arg) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333786] |
ChrX:10208386 [GRCh38] ChrX:10176426 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.608C>T (p.Thr203Ile) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333787] |
ChrX:10206410 [GRCh38] ChrX:10174450 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_001830.4(CLCN4):c.100G>A (p.Asp34Asn) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333790] |
ChrX:10185132 [GRCh38] ChrX:10153172 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.409G>A (p.Glu137Lys) |
single nucleotide variant |
not provided [RCV001576097] |
ChrX:10195075 [GRCh38] ChrX:10163115 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.185A>G (p.Lys62Arg) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333778] |
ChrX:10187555 [GRCh38] ChrX:10155595 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.87C>G (p.Asp29Glu) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333792] |
ChrX:10185119 [GRCh38] ChrX:10153159 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1886C>T (p.Thr629Ile) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333794] |
ChrX:10213990 [GRCh38] ChrX:10182030 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.835C>G (p.Leu279Val) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333800] |
ChrX:10206768 [GRCh38] ChrX:10174808 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_001830.4(CLCN4):c.1597G>A (p.Val533Met) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333782]|not provided [RCV003774759] |
ChrX:10213701 [GRCh38] ChrX:10181741 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2192G>T (p.Gly731Val) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333784] |
ChrX:10220877 [GRCh38] ChrX:10188917 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.928C>T (p.Pro310Ser) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333785] |
ChrX:10208129 [GRCh38] ChrX:10176169 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1648G>C (p.Val550Leu) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333789] |
ChrX:10213752 [GRCh38] ChrX:10181792 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.832del (p.Ser278fs) |
deletion |
Intellectual disability, X-linked 49 [RCV001263498] |
ChrX:10206765 [GRCh38] ChrX:10174805 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_001830.4(CLCN4):c.432+217AT[7] |
microsatellite |
not provided [RCV001674259] |
ChrX:10195315..10195316 [GRCh38] ChrX:10163355..10163356 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.843+128_843+129insGTTT |
insertion |
not provided [RCV001677684] |
ChrX:10206901..10206902 [GRCh38] ChrX:10174941..10174942 [GRCh37] ChrX:Xp22.2 |
benign |
GRCh37/hg19 Xp22.2(chrX:9932157-10348325)x3 |
copy number gain |
not provided [RCV001007257] |
ChrX:9932157..10348325 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV001027719]|not provided [RCV001759718] |
ChrX:10220736 [GRCh38] ChrX:10188776 [GRCh37] ChrX:Xp22.2 |
likely pathogenic|uncertain significance |
NM_001830.4(CLCN4):c.11C>T (p.Ala4Val) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003145313]|not provided [RCV001057937] |
ChrX:10185043 [GRCh38] ChrX:10153083 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1989G>C (p.Gln663His) |
single nucleotide variant |
Inborn genetic diseases [RCV002553940]|not provided [RCV001063442] |
ChrX:10220674 [GRCh38] ChrX:10188714 [GRCh37] ChrX:Xp22.2 |
likely benign|uncertain significance |
NM_001830.4(CLCN4):c.1576+187G>C |
single nucleotide variant |
not provided [RCV001684049] |
ChrX:10212840 [GRCh38] ChrX:10180880 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.843+134_843+135insTGTTTTT |
microsatellite |
not provided [RCV001611608] |
ChrX:10206906..10206907 [GRCh38] ChrX:10174946..10174947 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1576+186_1576+187insCACACACACACACACACACA |
microsatellite |
not provided [RCV001669467] |
ChrX:10212837..10212838 [GRCh38] ChrX:10180877..10180878 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.365C>A (p.Thr122Asn) |
single nucleotide variant |
not provided [RCV001584739] |
ChrX:10195031 [GRCh38] ChrX:10163071 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.432+40G>A |
single nucleotide variant |
not provided [RCV001612383] |
ChrX:10195138 [GRCh38] ChrX:10163178 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1390-58C>T |
single nucleotide variant |
not provided [RCV001616404] |
ChrX:10212409 [GRCh38] ChrX:10180449 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1024G>A (p.Gly342Arg) |
single nucleotide variant |
not provided [RCV001566371] |
ChrX:10208225 [GRCh38] ChrX:10176265 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1021T>C (p.Phe341Leu) |
single nucleotide variant |
not provided [RCV001048731] |
ChrX:10208222 [GRCh38] ChrX:10176262 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.2(chrX:9895992-10348490)x3 |
copy number gain |
not provided [RCV001007256] |
ChrX:9895992..10348490 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.419T>C (p.Val140Ala) |
single nucleotide variant |
not provided [RCV001051544] |
ChrX:10195085 [GRCh38] ChrX:10163125 [GRCh37] ChrX:Xp22.2 |
benign|uncertain significance |
NM_001830.4(CLCN4):c.1908G>A (p.Val636=) |
single nucleotide variant |
not provided [RCV001035765] |
ChrX:10214012 [GRCh38] ChrX:10182052 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.547A>T (p.Ile183Leu) |
single nucleotide variant |
not provided [RCV001093289] |
ChrX:10198053 [GRCh38] ChrX:10166093 [GRCh37] ChrX:Xp22.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001830.4(CLCN4):c.1552A>G (p.Met518Val) |
single nucleotide variant |
not provided [RCV001232781] |
ChrX:10212629 [GRCh38] ChrX:10180669 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 |
copy number loss |
not provided [RCV001007200] |
ChrX:168546..17502124 [GRCh37] ChrX:Xp22.33-22.13 |
pathogenic |
NM_001830.4(CLCN4):c.373del (p.Asp125fs) |
deletion |
Intellectual disability, X-linked 49 [RCV001253343] |
ChrX:10195038 [GRCh38] ChrX:10163078 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV001253788] |
ChrX:10213750 [GRCh38] ChrX:10181790 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_001830.4(CLCN4):c.665G>C (p.Gly222Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV001266734] |
ChrX:10206467 [GRCh38] ChrX:10174507 [GRCh37] ChrX:Xp22.2 |
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 |
NM_001830.4(CLCN4):c.573C>T (p.Ser191=) |
single nucleotide variant |
not provided [RCV001311052] |
ChrX:10206375 [GRCh38] ChrX:10174415 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1171C>A (p.Arg391Ser) |
single nucleotide variant |
Rare genetic intellectual disability [RCV001257020] |
ChrX:10208372 [GRCh38] ChrX:10176412 [GRCh37] ChrX:Xp22.2 |
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 |
NM_001830.4(CLCN4):c.820G>A (p.Gly274Ser) |
single nucleotide variant |
Intellectual disability [RCV001260684] |
ChrX:10206753 [GRCh38] ChrX:10174793 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001830.4(CLCN4):c.1106C>T (p.Pro369Leu) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333762]|not provided [RCV001312552] |
ChrX:10208307 [GRCh38] ChrX:10176347 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1561G>A (p.Ala521Thr) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV001332043] |
ChrX:10212638 [GRCh38] ChrX:10180678 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.469A>C (p.Ile157Leu) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV001262758]|not provided [RCV001751528] |
ChrX:10197975 [GRCh38] ChrX:10166015 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1808G>A (p.Arg603Gln) |
single nucleotide variant |
not provided [RCV001352259] |
ChrX:10213912 [GRCh38] ChrX:10181952 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2265A>T (p.Glu755Asp) |
single nucleotide variant |
not provided [RCV001307699] |
ChrX:10233566 [GRCh38] ChrX:10201606 [GRCh37] ChrX:Xp22.2 |
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_001830.4(CLCN4):c.1665G>A (p.Ala555=) |
single nucleotide variant |
not provided [RCV001352194] |
ChrX:10213769 [GRCh38] ChrX:10181809 [GRCh37] ChrX:Xp22.2 |
likely benign|uncertain significance |
NM_001830.4(CLCN4):c.1294C>T (p.Arg432Trp) |
single nucleotide variant |
not provided [RCV001313294] |
ChrX:10208495 [GRCh38] ChrX:10176535 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.433-3T>C |
single nucleotide variant |
not provided [RCV001373259] |
ChrX:10197936 [GRCh38] ChrX:10165976 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1390-7C>G |
single nucleotide variant |
not provided [RCV001315936] |
ChrX:10212460 [GRCh38] ChrX:10180500 [GRCh37] ChrX:Xp22.2 |
likely benign|uncertain significance |
NM_001830.4(CLCN4):c.1453A>G (p.Ile485Val) |
single nucleotide variant |
not provided [RCV001305240] |
ChrX:10212530 [GRCh38] ChrX:10180570 [GRCh37] ChrX:Xp22.2 |
benign|uncertain significance |
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_001830.4(CLCN4):c.2191G>A (p.Gly731Arg) |
single nucleotide variant |
not provided [RCV001383218] |
ChrX:10220876 [GRCh38] ChrX:10188916 [GRCh37] ChrX:Xp22.2 |
pathogenic|likely pathogenic |
NM_001830.4(CLCN4):c.1906G>A (p.Val636Met) |
single nucleotide variant |
Neurodevelopmental disorder [RCV001375005] |
ChrX:10214010 [GRCh38] ChrX:10182050 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1394C>T (p.Pro465Leu) |
single nucleotide variant |
not provided [RCV001369329] |
ChrX:10212471 [GRCh38] ChrX:10180511 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.16G>A (p.Ala6Thr) |
single nucleotide variant |
not provided [RCV001299119] |
ChrX:10185048 [GRCh38] ChrX:10153088 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1281T>G (p.Asp427Glu) |
single nucleotide variant |
not provided [RCV001309827] |
ChrX:10208482 [GRCh38] ChrX:10176522 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1202T>C (p.Leu401Pro) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV001270442] |
ChrX:10208403 [GRCh38] ChrX:10176443 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_001830.4(CLCN4):c.159C>A (p.Ser53Arg) |
single nucleotide variant |
not provided [RCV001301925] |
ChrX:10187529 [GRCh38] ChrX:10155569 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2168G>A (p.Arg723Gln) |
single nucleotide variant |
not provided [RCV001347280] |
ChrX:10220853 [GRCh38] ChrX:10188893 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2038C>T (p.Pro680Ser) |
single nucleotide variant |
not provided [RCV001319219] |
ChrX:10220723 [GRCh38] ChrX:10188763 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2231del (p.Arg744fs) |
deletion |
not provided [RCV001347625] |
ChrX:10233532 [GRCh38] ChrX:10201572 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.122G>A (p.Arg41Gln) |
single nucleotide variant |
not provided [RCV001319643] |
ChrX:10185154 [GRCh38] ChrX:10153194 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1998G>C (p.Glu666Asp) |
single nucleotide variant |
not provided [RCV001337472] |
ChrX:10220683 [GRCh38] ChrX:10188723 [GRCh37] ChrX:Xp22.2 |
likely benign|uncertain significance |
NM_001830.4(CLCN4):c.1246T>C (p.Tyr416His) |
single nucleotide variant |
not provided [RCV001298916] |
ChrX:10208447 [GRCh38] ChrX:10176487 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.779C>T (p.Ala260Val) |
single nucleotide variant |
not provided [RCV001369938] |
ChrX:10206712 [GRCh38] ChrX:10174752 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1171C>T (p.Arg391Cys) |
single nucleotide variant |
not provided [RCV001360088] |
ChrX:10208372 [GRCh38] ChrX:10176412 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2038C>A (p.Pro680Thr) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV001332044]|Seizure [RCV001281568]|not provided [RCV001871640] |
ChrX:10220723 [GRCh38] ChrX:10188763 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.181A>C (p.Ile61Leu) |
single nucleotide variant |
not provided [RCV001298169] |
ChrX:10187551 [GRCh38] ChrX:10155591 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1932C>T (p.Arg644=) |
single nucleotide variant |
not provided [RCV001494171] |
ChrX:10214036 [GRCh38] ChrX:10182076 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.556-9C>T |
single nucleotide variant |
not provided [RCV001492223] |
ChrX:10206349 [GRCh38] ChrX:10174389 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1251C>A (p.Ile417=) |
single nucleotide variant |
not provided [RCV001441176] |
ChrX:10208452 [GRCh38] ChrX:10176492 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.497dup (p.Leu166fs) |
duplication |
not provided [RCV001380745] |
ChrX:10197998..10197999 [GRCh38] ChrX:10166038..10166039 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.1052G>A (p.Arg351His) |
single nucleotide variant |
not provided [RCV001519832] |
ChrX:10208253 [GRCh38] ChrX:10176293 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.2052G>A (p.Pro684=) |
single nucleotide variant |
not provided [RCV001523459] |
ChrX:10220737 [GRCh38] ChrX:10188777 [GRCh37] ChrX:Xp22.2 |
benign |
NC_000023.10:g.(?_8501036)_(11318732_?)dup |
duplication |
not provided [RCV001488307] |
ChrX:8501036..11318732 [GRCh37] ChrX:Xp22.31-22.2 |
likely benign |
NM_001830.4(CLCN4):c.273C>T (p.Ala91=) |
single nucleotide variant |
not provided [RCV001516213] |
ChrX:10194939 [GRCh38] ChrX:10162979 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.2192+1G>T |
single nucleotide variant |
not provided [RCV001385746] |
ChrX:10220878 [GRCh38] ChrX:10188918 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.687C>T (p.His229=) |
single nucleotide variant |
not provided [RCV001452405] |
ChrX:10206489 [GRCh38] ChrX:10174529 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.357C>T (p.Asn119=) |
single nucleotide variant |
not provided [RCV001522388] |
ChrX:10195023 [GRCh38] ChrX:10163063 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.44A>T (p.Asp15Val) |
single nucleotide variant |
not provided [RCV001481136] |
ChrX:10185076 [GRCh38] ChrX:10153116 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1041C>G (p.Thr347=) |
single nucleotide variant |
not provided [RCV001470288] |
ChrX:10208242 [GRCh38] ChrX:10176282 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1887C>G (p.Thr629=) |
single nucleotide variant |
not provided [RCV001429176] |
ChrX:10213991 [GRCh38] ChrX:10182031 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1821G>A (p.Pro607=) |
single nucleotide variant |
not provided [RCV001491799] |
ChrX:10213925 [GRCh38] ChrX:10181965 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1359C>T (p.Ile453=) |
single nucleotide variant |
not provided [RCV001518045] |
ChrX:10208560 [GRCh38] ChrX:10176600 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1209T>C (p.Asn403=) |
single nucleotide variant |
not provided [RCV001453061] |
ChrX:10208410 [GRCh38] ChrX:10176450 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.433-6G>A |
single nucleotide variant |
not provided [RCV001454071] |
ChrX:10197933 [GRCh38] ChrX:10165973 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1905C>T (p.Pro635=) |
single nucleotide variant |
not provided [RCV001523737] |
ChrX:10214009 [GRCh38] ChrX:10182049 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.513G>A (p.Val171=) |
single nucleotide variant |
not provided [RCV001419935] |
ChrX:10198019 [GRCh38] ChrX:10166059 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.556-12C>T |
single nucleotide variant |
not provided [RCV001643639] |
ChrX:10206346 [GRCh38] ChrX:10174386 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.555+6T>G |
single nucleotide variant |
not provided [RCV001439546] |
ChrX:10198067 [GRCh38] ChrX:10166107 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1212C>T (p.Asp404=) |
single nucleotide variant |
not provided [RCV001430586] |
ChrX:10208413 [GRCh38] ChrX:10176453 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1299G>A (p.Pro433=) |
single nucleotide variant |
not provided [RCV001437115] |
ChrX:10208500 [GRCh38] ChrX:10176540 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1662G>A (p.Ala554=) |
single nucleotide variant |
not provided [RCV001429334] |
ChrX:10213766 [GRCh38] ChrX:10181806 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.245-6T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002554014]|not provided [RCV001410787] |
ChrX:10194905 [GRCh38] ChrX:10162945 [GRCh37] ChrX:Xp22.2 |
likely benign|uncertain significance |
NM_001830.4(CLCN4):c.2190C>T (p.Ser730=) |
single nucleotide variant |
not provided [RCV001408639] |
ChrX:10220875 [GRCh38] ChrX:10188915 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1490G>A (p.Trp497Ter) |
single nucleotide variant |
not provided [RCV001390994] |
ChrX:10212567 [GRCh38] ChrX:10180607 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.1428C>T (p.Gly476=) |
single nucleotide variant |
not provided [RCV001440726] |
ChrX:10212505 [GRCh38] ChrX:10180545 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.245-289A>G |
single nucleotide variant |
not provided [RCV001536433] |
ChrX:10194622 [GRCh38] ChrX:10162662 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.145-172G>A |
single nucleotide variant |
not provided [RCV001717123] |
ChrX:10187343 [GRCh38] ChrX:10155383 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.2192+10C>T |
single nucleotide variant |
not provided [RCV001514555] |
ChrX:10220887 [GRCh38] ChrX:10188927 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1437G>A (p.Ala479=) |
single nucleotide variant |
not provided [RCV001515361] |
ChrX:10212514 [GRCh38] ChrX:10180554 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.474A>G (p.Leu158=) |
single nucleotide variant |
not provided [RCV001450591] |
ChrX:10197980 [GRCh38] ChrX:10166020 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1576+156C>T |
single nucleotide variant |
not provided [RCV001717300] |
ChrX:10212809 [GRCh38] ChrX:10180849 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1857C>T (p.Val619=) |
single nucleotide variant |
not provided [RCV001503020] |
ChrX:10213961 [GRCh38] ChrX:10182001 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.844-163C>T |
single nucleotide variant |
not provided [RCV001669727] |
ChrX:10207882 [GRCh38] ChrX:10175922 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.780G>A (p.Ala260=) |
single nucleotide variant |
not provided [RCV001511145] |
ChrX:10206713 [GRCh38] ChrX:10174753 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.930C>A (p.Pro310=) |
single nucleotide variant |
not provided [RCV001479599] |
ChrX:10208131 [GRCh38] ChrX:10176171 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1596G>A (p.Thr532=) |
single nucleotide variant |
not provided [RCV001512337] |
ChrX:10213700 [GRCh38] ChrX:10181740 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1871C>T (p.Thr624Met) |
single nucleotide variant |
not provided [RCV001521867] |
ChrX:10213975 [GRCh38] ChrX:10182015 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.843+134dup |
duplication |
not provided [RCV001585022] |
ChrX:10206906..10206907 [GRCh38] ChrX:10174946..10174947 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.451C>T (p.Leu151=) |
single nucleotide variant |
not provided [RCV001517659] |
ChrX:10197957 [GRCh38] ChrX:10165997 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1749C>T (p.Phe583=) |
single nucleotide variant |
not provided [RCV001460602] |
ChrX:10213853 [GRCh38] ChrX:10181893 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.432+119C>T |
single nucleotide variant |
not provided [RCV001616912] |
ChrX:10195217 [GRCh38] ChrX:10163257 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.2127G>A (p.Pro709=) |
single nucleotide variant |
not provided [RCV001514201] |
ChrX:10220812 [GRCh38] ChrX:10188852 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.*156A>G |
single nucleotide variant |
not provided [RCV001652675] |
ChrX:10233740 [GRCh38] ChrX:10201780 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1755C>T (p.Asp585=) |
single nucleotide variant |
not provided [RCV001431081] |
ChrX:10213859 [GRCh38] ChrX:10181899 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1926C>T (p.Ser642=) |
single nucleotide variant |
not provided [RCV001462486] |
ChrX:10214030 [GRCh38] ChrX:10182070 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.210A>T (p.Gly70=) |
single nucleotide variant |
not provided [RCV001482107] |
ChrX:10187580 [GRCh38] ChrX:10155620 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.463A>T (p.Met155Leu) |
single nucleotide variant |
not provided [RCV001512106] |
ChrX:10197969 [GRCh38] ChrX:10166009 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1063G>A (p.Ala355Thr) |
single nucleotide variant |
not provided [RCV001516901] |
ChrX:10208264 [GRCh38] ChrX:10176304 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.51C>T (p.Leu17=) |
single nucleotide variant |
not provided [RCV001513404] |
ChrX:10185083 [GRCh38] ChrX:10153123 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1629C>T (p.Thr543=) |
single nucleotide variant |
not provided [RCV001460797] |
ChrX:10213733 [GRCh38] ChrX:10181773 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1578T>G (p.Gly526=) |
single nucleotide variant |
not provided [RCV001427618] |
ChrX:10213682 [GRCh38] ChrX:10181722 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1740G>A (p.Gly580=) |
single nucleotide variant |
not provided [RCV001424088] |
ChrX:10213844 [GRCh38] ChrX:10181884 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.711C>T (p.Phe237=) |
single nucleotide variant |
not provided [RCV001425991] |
ChrX:10206513 [GRCh38] ChrX:10174553 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2262C>T (p.Pro754=) |
single nucleotide variant |
not provided [RCV001454848] |
ChrX:10233563 [GRCh38] ChrX:10201603 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.825G>C (p.Val275=) |
single nucleotide variant |
not provided [RCV001477115] |
ChrX:10206758 [GRCh38] ChrX:10174798 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.207G>A (p.Ser69=) |
single nucleotide variant |
not provided [RCV001450585] |
ChrX:10187577 [GRCh38] ChrX:10155617 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1459G>A (p.Val487Met) |
single nucleotide variant |
not provided [RCV001732658] |
ChrX:10212536 [GRCh38] ChrX:10180576 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.112G>T (p.Glu38Ter) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV002226896] |
ChrX:10185144 [GRCh38] ChrX:10153184 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.856T>A (p.Phe286Ile) |
single nucleotide variant |
Intellectual disability [RCV002272755] |
ChrX:10208057 [GRCh38] ChrX:10176097 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1517C>G (p.Pro506Arg) |
single nucleotide variant |
Neurodevelopmental disorder [RCV001780063] |
ChrX:10212594 [GRCh38] ChrX:10180634 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1439G>T (p.Gly480Val) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV002246220] |
ChrX:10212516 [GRCh38] ChrX:10180556 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1206C>T (p.Phe402=) |
single nucleotide variant |
not provided [RCV002184875] |
ChrX:10208407 [GRCh38] ChrX:10176447 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.763-13_763-10del |
deletion |
not provided [RCV001779589] |
ChrX:10206682..10206685 [GRCh38] ChrX:10174722..10174725 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.-12+5G>T |
single nucleotide variant |
not provided [RCV001758215] |
ChrX:10158556 [GRCh38] ChrX:10126596 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.629C>T (p.Thr210Met) |
single nucleotide variant |
not provided [RCV001772644] |
ChrX:10206431 [GRCh38] ChrX:10174471 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.443C>T (p.Ala148Val) |
single nucleotide variant |
not provided [RCV001773006] |
ChrX:10197949 [GRCh38] ChrX:10165989 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1645A>C (p.Ile549Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002539909]|not provided [RCV001751809] |
ChrX:10213749 [GRCh38] ChrX:10181789 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2108C>T (p.Thr703Ile) |
single nucleotide variant |
not provided [RCV001767028] |
ChrX:10220793 [GRCh38] ChrX:10188833 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.740dup (p.Asn248fs) |
duplication |
Intellectual disability, X-linked 49 [RCV001775348] |
ChrX:10206540..10206541 [GRCh38] ChrX:10174580..10174581 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_001830.4(CLCN4):c.712T>A (p.Phe238Ile) |
single nucleotide variant |
not provided [RCV001752235] |
ChrX:10206514 [GRCh38] ChrX:10174554 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2174G>A (p.Cys725Tyr) |
single nucleotide variant |
not provided [RCV001765857] |
ChrX:10220859 [GRCh38] ChrX:10188899 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.515G>A (p.Arg172His) |
single nucleotide variant |
not provided [RCV001761431] |
ChrX:10198021 [GRCh38] ChrX:10166061 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1820C>A (p.Pro607Gln) |
single nucleotide variant |
not provided [RCV001806492] |
ChrX:10213924 [GRCh38] ChrX:10181964 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.926A>G (p.Asn309Ser) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333770]|not provided [RCV001794617] |
ChrX:10208127 [GRCh38] ChrX:10176167 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1565C>T (p.Ala522Val) |
single nucleotide variant |
not provided [RCV001763600] |
ChrX:10212642 [GRCh38] ChrX:10180682 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.875G>A (p.Trp292Ter) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV001788508] |
ChrX:10208076 [GRCh38] ChrX:10176116 [GRCh37] ChrX:Xp22.2 |
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_001830.4(CLCN4):c.1909G>C (p.Val637Leu) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV001779352] |
ChrX:10214013 [GRCh38] ChrX:10182053 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.691G>A (p.Ala231Thr) |
single nucleotide variant |
not provided [RCV002008717] |
ChrX:10206493 [GRCh38] ChrX:10174533 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1849A>G (p.Met617Val) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV001823582] |
ChrX:10213953 [GRCh38] ChrX:10181993 [GRCh37] ChrX:Xp22.2 |
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_001830.4(CLCN4):c.1220C>T (p.Ala407Val) |
single nucleotide variant |
not provided [RCV002025192] |
ChrX:10208421 [GRCh38] ChrX:10176461 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1024G>C (p.Gly342Arg) |
single nucleotide variant |
not provided [RCV001910899] |
ChrX:10208225 [GRCh38] ChrX:10176265 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.853T>C (p.Tyr285His) |
single nucleotide variant |
not provided [RCV001912437] |
ChrX:10208054 [GRCh38] ChrX:10176094 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1872G>A (p.Thr624=) |
single nucleotide variant |
not provided [RCV001983805] |
ChrX:10213976 [GRCh38] ChrX:10182016 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1462G>C (p.Glu488Gln) |
single nucleotide variant |
not provided [RCV001890032] |
ChrX:10212539 [GRCh38] ChrX:10180579 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2065C>T (p.His689Tyr) |
single nucleotide variant |
not provided [RCV001911910] |
ChrX:10220750 [GRCh38] ChrX:10188790 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1712_1715dup (p.Glu573fs) |
duplication |
not provided [RCV001949175] |
ChrX:10213814..10213815 [GRCh38] ChrX:10181854..10181855 [GRCh37] ChrX:Xp22.2 |
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 |
NM_001830.4(CLCN4):c.1820C>T (p.Pro607Leu) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003146273]|not provided [RCV001872529] |
ChrX:10213924 [GRCh38] ChrX:10181964 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.121C>T (p.Arg41Trp) |
single nucleotide variant |
not provided [RCV002021897] |
ChrX:10185153 [GRCh38] ChrX:10153193 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1553T>C (p.Met518Thr) |
single nucleotide variant |
not provided [RCV001878765] |
ChrX:10212630 [GRCh38] ChrX:10180670 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1430C>T (p.Ala477Val) |
single nucleotide variant |
not provided [RCV001920768] |
ChrX:10212507 [GRCh38] ChrX:10180547 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1528T>C (p.Cys510Arg) |
single nucleotide variant |
not provided [RCV001884048] |
ChrX:10212605 [GRCh38] ChrX:10180645 [GRCh37] ChrX:Xp22.2 |
likely benign|uncertain significance |
NM_001830.4(CLCN4):c.1390-1G>A |
single nucleotide variant |
not provided [RCV002047093] |
ChrX:10212466 [GRCh38] ChrX:10180506 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_001830.4(CLCN4):c.1576+5G>C |
single nucleotide variant |
not provided [RCV001954780] |
ChrX:10212658 [GRCh38] ChrX:10180698 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.847A>G (p.Ser283Gly) |
single nucleotide variant |
not provided [RCV002046874] |
ChrX:10208048 [GRCh38] ChrX:10176088 [GRCh37] ChrX:Xp22.2 |
likely pathogenic|uncertain significance |
NM_001830.4(CLCN4):c.1481A>T (p.His494Leu) |
single nucleotide variant |
not provided [RCV002049547] |
ChrX:10212558 [GRCh38] ChrX:10180598 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.64C>G (p.Pro22Ala) |
single nucleotide variant |
not provided [RCV001994891] |
ChrX:10185096 [GRCh38] ChrX:10153136 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1549G>A (p.Ala517Thr) |
single nucleotide variant |
not provided [RCV001876622] |
ChrX:10212626 [GRCh38] ChrX:10180666 [GRCh37] ChrX:Xp22.2 |
benign|uncertain significance |
NM_001830.4(CLCN4):c.448A>C (p.Ile150Leu) |
single nucleotide variant |
not provided [RCV001980269]|not specified [RCV003479385] |
ChrX:10197954 [GRCh38] ChrX:10165994 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1010T>C (p.Leu337Pro) |
single nucleotide variant |
not provided [RCV002035841] |
ChrX:10208211 [GRCh38] ChrX:10176251 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1417A>G (p.Met473Val) |
single nucleotide variant |
not provided [RCV001884191] |
ChrX:10212494 [GRCh38] ChrX:10180534 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1031T>G (p.Leu344Trp) |
single nucleotide variant |
not provided [RCV001938902] |
ChrX:10208232 [GRCh38] ChrX:10176272 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NC_000023.10:g.(?_10153073)_(10180703_?)del |
deletion |
not provided [RCV001923675] |
ChrX:10153073..10180703 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.506C>T (p.Ser169Phe) |
single nucleotide variant |
not provided [RCV001961411] |
ChrX:10198012 [GRCh38] ChrX:10166052 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2023T>C (p.Tyr675His) |
single nucleotide variant |
not provided [RCV001919654] |
ChrX:10220708 [GRCh38] ChrX:10188748 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1576+4C>T |
single nucleotide variant |
not provided [RCV001993062] |
ChrX:10212657 [GRCh38] ChrX:10180697 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.836T>C (p.Leu279Pro) |
single nucleotide variant |
not provided [RCV002033674] |
ChrX:10206769 [GRCh38] ChrX:10174809 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.223C>T (p.Leu75=) |
single nucleotide variant |
not provided [RCV002191938] |
ChrX:10187593 [GRCh38] ChrX:10155633 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1976-9C>T |
single nucleotide variant |
not provided [RCV002210236] |
ChrX:10220652 [GRCh38] ChrX:10188692 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2193-20C>A |
single nucleotide variant |
not provided [RCV002085699] |
ChrX:10233474 [GRCh38] ChrX:10201514 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2058C>T (p.Asn686=) |
single nucleotide variant |
not provided [RCV002088989] |
ChrX:10220743 [GRCh38] ChrX:10188783 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.234C>T (p.Gly78=) |
single nucleotide variant |
not provided [RCV002147393] |
ChrX:10187604 [GRCh38] ChrX:10155644 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.903G>A (p.Ala301=) |
single nucleotide variant |
not provided [RCV002187352] |
ChrX:10208104 [GRCh38] ChrX:10176144 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1731C>T (p.His577=) |
single nucleotide variant |
not provided [RCV002169499] |
ChrX:10213835 [GRCh38] ChrX:10181875 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.2077C>T (p.Leu693=) |
single nucleotide variant |
not provided [RCV002185090] |
ChrX:10220762 [GRCh38] ChrX:10188802 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.555+22dup |
duplication |
not provided [RCV002207775] |
ChrX:10198076..10198077 [GRCh38] ChrX:10166116..10166117 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1896C>T (p.Asn632=) |
single nucleotide variant |
not provided [RCV002188381] |
ChrX:10214000 [GRCh38] ChrX:10182040 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2192+15A>C |
single nucleotide variant |
not provided [RCV002075559] |
ChrX:10220892 [GRCh38] ChrX:10188932 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.433-13G>A |
single nucleotide variant |
not provided [RCV002211742] |
ChrX:10197926 [GRCh38] ChrX:10165966 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1576+20A>T |
single nucleotide variant |
not provided [RCV002078511] |
ChrX:10212673 [GRCh38] ChrX:10180713 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1175A>G (p.Gln392Arg) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV002505857]|not provided [RCV002193611] |
ChrX:10208376 [GRCh38] ChrX:10176416 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.1362C>T (p.Val454=) |
single nucleotide variant |
not provided [RCV002095583] |
ChrX:10208563 [GRCh38] ChrX:10176603 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1134C>T (p.Ala378=) |
single nucleotide variant |
not provided [RCV002079404] |
ChrX:10208335 [GRCh38] ChrX:10176375 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.258G>A (p.Gly86=) |
single nucleotide variant |
not provided [RCV002151021] |
ChrX:10194924 [GRCh38] ChrX:10162964 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1152C>G (p.Ala384=) |
single nucleotide variant |
not provided [RCV002087164] |
ChrX:10208353 [GRCh38] ChrX:10176393 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.144+7G>A |
single nucleotide variant |
not provided [RCV002190261] |
ChrX:10185183 [GRCh38] ChrX:10153223 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1389+19A>G |
single nucleotide variant |
not provided [RCV002152859] |
ChrX:10208609 [GRCh38] ChrX:10176649 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.138C>T (p.His46=) |
single nucleotide variant |
not provided [RCV002093069] |
ChrX:10185170 [GRCh38] ChrX:10153210 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1791C>T (p.Thr597=) |
single nucleotide variant |
not provided [RCV002076653] |
ChrX:10213895 [GRCh38] ChrX:10181935 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1390-11G>A |
single nucleotide variant |
not provided [RCV002132273] |
ChrX:10212456 [GRCh38] ChrX:10180496 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.408G>A (p.Ser136=) |
single nucleotide variant |
not provided [RCV002102041] |
ChrX:10195074 [GRCh38] ChrX:10163114 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2109A>G (p.Thr703=) |
single nucleotide variant |
not provided [RCV002198076] |
ChrX:10220794 [GRCh38] ChrX:10188834 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1602A>G (p.Ser534=) |
single nucleotide variant |
not provided [RCV002164737] |
ChrX:10213706 [GRCh38] ChrX:10181746 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1389+17G>A |
single nucleotide variant |
not provided [RCV002119271] |
ChrX:10208607 [GRCh38] ChrX:10176647 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.245-17C>T |
single nucleotide variant |
not provided [RCV002083449] |
ChrX:10194894 [GRCh38] ChrX:10162934 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.244+18C>T |
single nucleotide variant |
not provided [RCV002117770] |
ChrX:10187632 [GRCh38] ChrX:10155672 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.2192+14C>T |
single nucleotide variant |
not provided [RCV002163871] |
ChrX:10220891 [GRCh38] ChrX:10188931 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1577-9C>G |
single nucleotide variant |
not provided [RCV002102967] |
ChrX:10213672 [GRCh38] ChrX:10181712 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.975G>A (p.Thr325=) |
single nucleotide variant |
not provided [RCV002122819] |
ChrX:10208176 [GRCh38] ChrX:10176216 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_001830.4(CLCN4):c.2004T>C (p.Ile668=) |
single nucleotide variant |
not provided [RCV002122918] |
ChrX:10220689 [GRCh38] ChrX:10188729 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1395G>T (p.Pro465=) |
single nucleotide variant |
not provided [RCV002201859] |
ChrX:10212472 [GRCh38] ChrX:10180512 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.144+11T>A |
single nucleotide variant |
not provided [RCV002220745] |
ChrX:10185187 [GRCh38] ChrX:10153227 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.456T>C (p.Asn152=) |
single nucleotide variant |
not provided [RCV002103974] |
ChrX:10197962 [GRCh38] ChrX:10166002 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2192+16T>A |
single nucleotide variant |
not provided [RCV002100627] |
ChrX:10220893 [GRCh38] ChrX:10188933 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.145-16del |
deletion |
not provided [RCV002156389] |
ChrX:10187499 [GRCh38] ChrX:10155539 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1390-11_1390-10del |
microsatellite |
not provided [RCV002160455] |
ChrX:10212453..10212454 [GRCh38] ChrX:10180493..10180494 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.245-19C>G |
single nucleotide variant |
not provided [RCV002179970] |
ChrX:10194892 [GRCh38] ChrX:10162932 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.763-18G>T |
single nucleotide variant |
not provided [RCV002101148] |
ChrX:10206678 [GRCh38] ChrX:10174718 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1390-10T>A |
single nucleotide variant |
not provided [RCV002201063] |
ChrX:10212457 [GRCh38] ChrX:10180497 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.586A>C (p.Arg196=) |
single nucleotide variant |
not provided [RCV002144644] |
ChrX:10206388 [GRCh38] ChrX:10174428 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2083C>T (p.Arg695Cys) |
single nucleotide variant |
not provided [RCV003109924] |
ChrX:10220768 [GRCh38] ChrX:10188808 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1242T>C (p.Cys414=) |
single nucleotide variant |
not provided [RCV003123333] |
ChrX:10208443 [GRCh38] ChrX:10176483 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1064C>T (p.Ala355Val) |
single nucleotide variant |
not provided [RCV003121102] |
ChrX:10208265 [GRCh38] ChrX:10176305 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1416C>T (p.Ser472=) |
single nucleotide variant |
not provided [RCV003121187] |
ChrX:10212493 [GRCh38] ChrX:10180533 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.21G>A (p.Met7Ile) |
single nucleotide variant |
not provided [RCV002248278] |
ChrX:10185053 [GRCh38] ChrX:10153093 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1709G>A (p.Gly570Asp) |
single nucleotide variant |
not provided [RCV003233395] |
ChrX:10213813 [GRCh38] ChrX:10181853 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
Single allele |
complex |
Turner syndrome [RCV002280670] |
ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21 |
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 Xp22.33-22.2(chrX:168546-11080743)x1 |
copy number loss |
See cases [RCV002286358] |
ChrX:168546..11080743 [GRCh37] ChrX:Xp22.33-22.2 |
pathogenic |
NM_001830.4(CLCN4):c.1185C>A (p.Ser395Arg) |
single nucleotide variant |
not provided [RCV002274641] |
ChrX:10208386 [GRCh38] ChrX:10176426 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1318A>G (p.Thr440Ala) |
single nucleotide variant |
not specified [RCV003236500] |
ChrX:10208519 [GRCh38] ChrX:10176559 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1088C>T (p.Thr363Ile) |
single nucleotide variant |
not provided [RCV003231822] |
ChrX:10208289 [GRCh38] ChrX:10176329 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1138A>G (p.Thr380Ala) |
single nucleotide variant |
not provided [RCV002288151] |
ChrX:10208339 [GRCh38] ChrX:10176379 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2020A>T (p.Met674Leu) |
single nucleotide variant |
not provided [RCV002297739] |
ChrX:10220705 [GRCh38] ChrX:10188745 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.271G>A (p.Ala91Thr) |
single nucleotide variant |
not provided [RCV002281486] |
ChrX:10194937 [GRCh38] ChrX:10162977 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.60G>A (p.Pro20=) |
single nucleotide variant |
not provided [RCV002967929] |
ChrX:10185092 [GRCh38] ChrX:10153132 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1090A>G (p.Arg364Gly) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333793] |
ChrX:10208291 [GRCh38] ChrX:10176331 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.677C>T (p.Pro226Leu) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333795] |
ChrX:10206479 [GRCh38] ChrX:10174519 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.925_928del (p.Asn309fs) |
deletion |
Intellectual disability, X-linked 49 [RCV003333796] |
ChrX:10208123..10208126 [GRCh38] ChrX:10176163..10176166 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.823G>C (p.Val275Leu) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333798]|not provided [RCV003094175] |
ChrX:10206756 [GRCh38] ChrX:10174796 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1987_1990del (p.Gln663fs) |
microsatellite |
Intellectual disability, X-linked 49 [RCV003333797] |
ChrX:10220668..10220671 [GRCh38] ChrX:10188708..10188711 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_001830.4(CLCN4):c.826C>T (p.Leu276Phe) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333799] |
ChrX:10206759 [GRCh38] ChrX:10174799 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2 |
copy number gain |
not provided [RCV002474523] |
ChrX:2703633..14515021 [GRCh37] ChrX:Xp22.33-22.2 |
pathogenic |
NM_001830.4(CLCN4):c.1078C>A (p.Arg360Ser) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333781] |
ChrX:10208279 [GRCh38] ChrX:10176319 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1646T>A (p.Ile549Asn) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333788] |
ChrX:10213750 [GRCh38] ChrX:10181790 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.848G>A (p.Ser283Asn) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003333802] |
ChrX:10208049 [GRCh38] ChrX:10176089 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.407C>T (p.Ser136Leu) |
single nucleotide variant |
not provided [RCV003234517] |
ChrX:10195073 [GRCh38] ChrX:10163113 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.163G>C (p.Glu55Gln) |
single nucleotide variant |
not provided [RCV002304494] |
ChrX:10187533 [GRCh38] ChrX:10155573 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.426G>T (p.Gln142His) |
single nucleotide variant |
not provided [RCV002301901] |
ChrX:10195092 [GRCh38] ChrX:10163132 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1765G>A (p.Glu589Lys) |
single nucleotide variant |
not provided [RCV002299248] |
ChrX:10213869 [GRCh38] ChrX:10181909 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.859C>G (p.Pro287Ala) |
single nucleotide variant |
not provided [RCV002298060] |
ChrX:10208060 [GRCh38] ChrX:10176100 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2059A>T (p.Ser687Cys) |
single nucleotide variant |
not provided [RCV002296669] |
ChrX:10220744 [GRCh38] ChrX:10188784 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.532G>A (p.Ala178Thr) |
single nucleotide variant |
not provided [RCV002295387] |
ChrX:10198038 [GRCh38] ChrX:10166078 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1506C>G (p.Asn502Lys) |
single nucleotide variant |
not provided [RCV003098021]|not specified [RCV002302491] |
ChrX:10212583 [GRCh38] ChrX:10180623 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1685T>C (p.Val562Ala) |
single nucleotide variant |
not provided [RCV002295024] |
ChrX:10213789 [GRCh38] ChrX:10181829 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1332G>A (p.Gln444=) |
single nucleotide variant |
not provided [RCV002615438] |
ChrX:10208533 [GRCh38] ChrX:10176573 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.763-10T>A |
single nucleotide variant |
not provided [RCV003032395] |
ChrX:10206686 [GRCh38] ChrX:10174726 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.432+18G>C |
single nucleotide variant |
not provided [RCV002861327] |
ChrX:10195116 [GRCh38] ChrX:10163156 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.495T>G (p.Phe165Leu) |
single nucleotide variant |
not provided [RCV003015800] |
ChrX:10198001 [GRCh38] ChrX:10166041 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.843+14G>C |
single nucleotide variant |
not provided [RCV002750651] |
ChrX:10206790 [GRCh38] ChrX:10174830 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1611C>T (p.Val537=) |
single nucleotide variant |
not provided [RCV002975161] |
ChrX:10213715 [GRCh38] ChrX:10181755 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.531T>C (p.Tyr177=) |
single nucleotide variant |
not provided [RCV002616767] |
ChrX:10198037 [GRCh38] ChrX:10166077 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1304G>A (p.Gly435Asp) |
single nucleotide variant |
not provided [RCV003017144] |
ChrX:10208505 [GRCh38] ChrX:10176545 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.145-11C>T |
single nucleotide variant |
not provided [RCV002780600] |
ChrX:10187504 [GRCh38] ChrX:10155544 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.762+14G>A |
single nucleotide variant |
not provided [RCV002846393] |
ChrX:10206578 [GRCh38] ChrX:10174618 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1840C>A (p.Gln614Lys) |
single nucleotide variant |
not provided [RCV003081715] |
ChrX:10213944 [GRCh38] ChrX:10181984 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1390-12T>G |
single nucleotide variant |
not provided [RCV002800069] |
ChrX:10212455 [GRCh38] ChrX:10180495 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.2070C>G (p.Pro690=) |
single nucleotide variant |
not provided [RCV002640486] |
ChrX:10220755 [GRCh38] ChrX:10188795 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.245-17C>G |
single nucleotide variant |
not provided [RCV002847138] |
ChrX:10194894 [GRCh38] ChrX:10162934 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.911C>T (p.Thr304Met) |
single nucleotide variant |
not provided [RCV002914041] |
ChrX:10208112 [GRCh38] ChrX:10176152 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2193-6C>T |
single nucleotide variant |
not provided [RCV002847420] |
ChrX:10233488 [GRCh38] ChrX:10201528 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1428C>A (p.Gly476=) |
single nucleotide variant |
not provided [RCV002760553] |
ChrX:10212505 [GRCh38] ChrX:10180545 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.243G>A (p.Ala81=) |
single nucleotide variant |
not provided [RCV002620736] |
ChrX:10187613 [GRCh38] ChrX:10155653 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1981G>A (p.Ala661Thr) |
single nucleotide variant |
not provided [RCV003037046] |
ChrX:10220666 [GRCh38] ChrX:10188706 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.917G>A (p.Arg306Lys) |
single nucleotide variant |
not provided [RCV002913017] |
ChrX:10208118 [GRCh38] ChrX:10176158 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.609C>G (p.Thr203=) |
single nucleotide variant |
not provided [RCV003036855] |
ChrX:10206411 [GRCh38] ChrX:10174451 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.512T>C (p.Val171Ala) |
single nucleotide variant |
not provided [RCV003035324] |
ChrX:10198018 [GRCh38] ChrX:10166058 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2119C>A (p.His707Asn) |
single nucleotide variant |
not provided [RCV003037095] |
ChrX:10220804 [GRCh38] ChrX:10188844 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1794C>T (p.Asp598=) |
single nucleotide variant |
not provided [RCV002735558] |
ChrX:10213898 [GRCh38] ChrX:10181938 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.385T>C (p.Cys129Arg) |
single nucleotide variant |
not provided [RCV003019551] |
ChrX:10195051 [GRCh38] ChrX:10163091 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1968C>T (p.Leu656=) |
single nucleotide variant |
not provided [RCV002913098] |
ChrX:10214072 [GRCh38] ChrX:10182112 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.720C>T (p.Ser240=) |
single nucleotide variant |
not provided [RCV002847940] |
ChrX:10206522 [GRCh38] ChrX:10174562 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.441T>G (p.Ser147Arg) |
single nucleotide variant |
not provided [RCV003038471] |
ChrX:10197947 [GRCh38] ChrX:10165987 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1245C>G (p.Asp415Glu) |
single nucleotide variant |
not provided [RCV002953147] |
ChrX:10208446 [GRCh38] ChrX:10176486 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.144+14C>T |
single nucleotide variant |
not provided [RCV002909283] |
ChrX:10185190 [GRCh38] ChrX:10153230 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1920A>G (p.Arg640=) |
single nucleotide variant |
not provided [RCV003024877] |
ChrX:10214024 [GRCh38] ChrX:10182064 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.695G>T (p.Cys232Phe) |
single nucleotide variant |
not provided [RCV002958412] |
ChrX:10206497 [GRCh38] ChrX:10174537 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1023C>T (p.Phe341=) |
single nucleotide variant |
not provided [RCV002627228] |
ChrX:10208224 [GRCh38] ChrX:10176264 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.749G>C (p.Gly250Ala) |
single nucleotide variant |
not provided [RCV002711151] |
ChrX:10206551 [GRCh38] ChrX:10174591 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1457G>A (p.Gly486Asp) |
single nucleotide variant |
not provided [RCV002985314] |
ChrX:10212534 [GRCh38] ChrX:10180574 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2192+11G>A |
single nucleotide variant |
not provided [RCV002644349] |
ChrX:10220888 [GRCh38] ChrX:10188928 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.17C>T (p.Ala6Val) |
single nucleotide variant |
not provided [RCV002710219] |
ChrX:10185049 [GRCh38] ChrX:10153089 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1203G>C (p.Leu401=) |
single nucleotide variant |
not provided [RCV002791107] |
ChrX:10208404 [GRCh38] ChrX:10176444 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1976-11C>T |
single nucleotide variant |
not provided [RCV002575477] |
ChrX:10220650 [GRCh38] ChrX:10188690 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.469A>G (p.Ile157Val) |
single nucleotide variant |
not provided [RCV002508639] |
ChrX:10197975 [GRCh38] ChrX:10166015 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1320G>A (p.Thr440=) |
single nucleotide variant |
not provided [RCV002917779] |
ChrX:10208521 [GRCh38] ChrX:10176561 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.42G>T (p.Met14Ile) |
single nucleotide variant |
not provided [RCV003028184] |
ChrX:10185074 [GRCh38] ChrX:10153114 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2170C>A (p.Gln724Lys) |
single nucleotide variant |
not provided [RCV002811155] |
ChrX:10220855 [GRCh38] ChrX:10188895 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1324A>G (p.Met442Val) |
single nucleotide variant |
not provided [RCV002962623] |
ChrX:10208525 [GRCh38] ChrX:10176565 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1418T>C (p.Met473Thr) |
single nucleotide variant |
not provided [RCV003048986] |
ChrX:10212495 [GRCh38] ChrX:10180535 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.51C>G (p.Leu17=) |
single nucleotide variant |
not provided [RCV002671289] |
ChrX:10185083 [GRCh38] ChrX:10153123 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.763G>C (p.Val255Leu) |
single nucleotide variant |
not provided [RCV002834352] |
ChrX:10206696 [GRCh38] ChrX:10174736 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2161G>C (p.Gly721Arg) |
single nucleotide variant |
not provided [RCV003046565] |
ChrX:10220846 [GRCh38] ChrX:10188886 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1724A>G (p.His575Arg) |
single nucleotide variant |
not provided [RCV003045704] |
ChrX:10213828 [GRCh38] ChrX:10181868 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.427T>G (p.Ser143Ala) |
single nucleotide variant |
not provided [RCV003047545] |
ChrX:10195093 [GRCh38] ChrX:10163133 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2192+15A>G |
single nucleotide variant |
not provided [RCV002966200] |
ChrX:10220892 [GRCh38] ChrX:10188932 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.556-9C>G |
single nucleotide variant |
not provided [RCV003026894] |
ChrX:10206349 [GRCh38] ChrX:10174389 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1482C>T (p.His494=) |
single nucleotide variant |
not provided [RCV002671320] |
ChrX:10212559 [GRCh38] ChrX:10180599 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.861C>T (p.Pro287=) |
single nucleotide variant |
not provided [RCV003091466] |
ChrX:10208062 [GRCh38] ChrX:10176102 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1271G>A (p.Arg424Gln) |
single nucleotide variant |
not provided [RCV002676170] |
ChrX:10208472 [GRCh38] ChrX:10176512 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1864G>A (p.Val622Met) |
single nucleotide variant |
not provided [RCV003129563] |
ChrX:10213968 [GRCh38] ChrX:10182008 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2081G>A (p.Arg694Gln) |
single nucleotide variant |
not provided [RCV003068460] |
ChrX:10220766 [GRCh38] ChrX:10188806 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1308C>T (p.Val436=) |
single nucleotide variant |
not provided [RCV003067785] |
ChrX:10208509 [GRCh38] ChrX:10176549 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2003T>G (p.Ile668Ser) |
single nucleotide variant |
not provided [RCV002587116] |
ChrX:10220688 [GRCh38] ChrX:10188728 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1500C>T (p.Phe500=) |
single nucleotide variant |
not provided [RCV002585418] |
ChrX:10212577 [GRCh38] ChrX:10180617 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2112G>C (p.Val704=) |
single nucleotide variant |
not provided [RCV003093547] |
ChrX:10220797 [GRCh38] ChrX:10188837 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1519G>A (p.Gly507Ser) |
single nucleotide variant |
not provided [RCV003071121] |
ChrX:10212596 [GRCh38] ChrX:10180636 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.209G>T (p.Gly70Val) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003145030] |
ChrX:10187579 [GRCh38] ChrX:10155619 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1680G>C (p.Lys560Asn) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003145031] |
ChrX:10213784 [GRCh38] ChrX:10181824 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1360G>A (p.Val454Ile) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003145032] |
ChrX:10208561 [GRCh38] ChrX:10176601 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1605GGT[1] (p.Val537del) |
microsatellite |
not provided [RCV003223848] |
ChrX:10213708..10213710 [GRCh38] ChrX:10181748..10181750 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1039A>G (p.Thr347Ala) |
single nucleotide variant |
not provided [RCV003223328] |
ChrX:10208240 [GRCh38] ChrX:10176280 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1151C>T (p.Ala384Val) |
single nucleotide variant |
not provided [RCV003223922] |
ChrX:10208352 [GRCh38] ChrX:10176392 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1397C>T (p.Ser466Leu) |
single nucleotide variant |
not provided [RCV003321145] |
ChrX:10212474 [GRCh38] ChrX:10180514 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.299A>C (p.Glu100Ala) |
single nucleotide variant |
not provided [RCV003327234] |
ChrX:10194965 [GRCh38] ChrX:10163005 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.611T>C (p.Leu204Pro) |
single nucleotide variant |
not provided [RCV003329961] |
ChrX:10206413 [GRCh38] ChrX:10174453 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1042C>G (p.Leu348Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003369409] |
ChrX:10208243 [GRCh38] ChrX:10176283 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1155C>T (p.Tyr385=) |
single nucleotide variant |
not provided [RCV003571290] |
ChrX:10208356 [GRCh38] ChrX:10176396 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.37C>A (p.Leu13Met) |
single nucleotide variant |
not provided [RCV003570635] |
ChrX:10185069 [GRCh38] ChrX:10153109 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1390-17C>T |
single nucleotide variant |
not provided [RCV003543301] |
ChrX:10212450 [GRCh38] ChrX:10180490 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.555+15A>G |
single nucleotide variant |
not provided [RCV003686358] |
ChrX:10198076 [GRCh38] ChrX:10166116 [GRCh37] ChrX:Xp22.2 |
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 Xp22.33-21.2(chrX:168547-30774453)x2 |
copy number gain |
not provided [RCV003483939] |
ChrX:168547..30774453 [GRCh37] ChrX:Xp22.33-21.2 |
pathogenic |
NM_001830.4(CLCN4):c.1040C>A (p.Thr347Asn) |
single nucleotide variant |
not provided [RCV003443813] |
ChrX:10208241 [GRCh38] ChrX:10176281 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.433-7T>G |
single nucleotide variant |
not provided [RCV003440960] |
ChrX:10197932 [GRCh38] ChrX:10165972 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.741G>A (p.Lys247=) |
single nucleotide variant |
not provided [RCV003440961] |
ChrX:10206543 [GRCh38] ChrX:10174583 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.935G>T (p.Gly312Val) |
single nucleotide variant |
CLCN4-related condition [RCV003412281] |
ChrX:10208136 [GRCh38] ChrX:10176176 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1492A>G (p.Ile498Val) |
single nucleotide variant |
CLCN4-related condition [RCV003416875] |
ChrX:10212569 [GRCh38] ChrX:10180609 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.758G>A (p.Arg253Gln) |
single nucleotide variant |
not provided [RCV003440962] |
ChrX:10206560 [GRCh38] ChrX:10174600 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_001830.4(CLCN4):c.577T>G (p.Phe193Val) |
single nucleotide variant |
not provided [RCV003442724] |
ChrX:10206379 [GRCh38] ChrX:10174419 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.775G>T (p.Ala259Ser) |
single nucleotide variant |
CLCN4-related condition [RCV003414095] |
ChrX:10206708 [GRCh38] ChrX:10174748 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1315T>C (p.Tyr439His) |
single nucleotide variant |
not provided [RCV003696538] |
ChrX:10208516 [GRCh38] ChrX:10176556 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.603G>C (p.Lys201Asn) |
single nucleotide variant |
not provided [RCV003547629] |
ChrX:10206405 [GRCh38] ChrX:10174445 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2186G>A (p.Arg729Gln) |
single nucleotide variant |
not provided [RCV003577902] |
ChrX:10220871 [GRCh38] ChrX:10188911 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.72G>A (p.Val24=) |
single nucleotide variant |
not provided [RCV003576844] |
ChrX:10185104 [GRCh38] ChrX:10153144 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1975+8_1975+9del |
deletion |
not provided [RCV003573598] |
ChrX:10214086..10214087 [GRCh38] ChrX:10182126..10182127 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.813A>C (p.Pro271=) |
single nucleotide variant |
not provided [RCV003547432] |
ChrX:10206746 [GRCh38] ChrX:10174786 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1608G>A (p.Val536=) |
single nucleotide variant |
not provided [RCV003693938] |
ChrX:10213712 [GRCh38] ChrX:10181752 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1446G>A (p.Met482Ile) |
single nucleotide variant |
not provided [RCV003660615] |
ChrX:10212523 [GRCh38] ChrX:10180563 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.144+15G>A |
single nucleotide variant |
not provided [RCV003576829] |
ChrX:10185191 [GRCh38] ChrX:10153231 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1622A>T (p.Glu541Val) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003883369] |
ChrX:10213726 [GRCh38] ChrX:10181766 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_001830.4(CLCN4):c.1577-14C>T |
single nucleotide variant |
not provided [RCV003687900] |
ChrX:10213667 [GRCh38] ChrX:10181707 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.723T>C (p.Leu241=) |
single nucleotide variant |
not provided [RCV003546015] |
ChrX:10206525 [GRCh38] ChrX:10174565 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1843G>C (p.Asp615His) |
single nucleotide variant |
not provided [RCV003692579] |
ChrX:10213947 [GRCh38] ChrX:10181987 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.245-16G>C |
single nucleotide variant |
not provided [RCV003687271] |
ChrX:10194895 [GRCh38] ChrX:10162935 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1174C>T (p.Gln392Ter) |
single nucleotide variant |
not provided [RCV003575669] |
ChrX:10208375 [GRCh38] ChrX:10176415 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.244+18C>A |
single nucleotide variant |
not provided [RCV003576819] |
ChrX:10187632 [GRCh38] ChrX:10155672 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.498G>T (p.Leu166Phe) |
single nucleotide variant |
not provided [RCV003545061] |
ChrX:10198004 [GRCh38] ChrX:10166044 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.534C>T (p.Ala178=) |
single nucleotide variant |
not provided [RCV003690961] |
ChrX:10198040 [GRCh38] ChrX:10166080 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1068G>A (p.Trp356Ter) |
single nucleotide variant |
not provided [RCV003572302] |
ChrX:10208269 [GRCh38] ChrX:10176309 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.339G>A (p.Gln113=) |
single nucleotide variant |
not provided [RCV003547845] |
ChrX:10195005 [GRCh38] ChrX:10163045 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1716C>A (p.Tyr572Ter) |
single nucleotide variant |
not provided [RCV003688023] |
ChrX:10213820 [GRCh38] ChrX:10181860 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.1631G>A (p.Gly544Glu) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003883297] |
ChrX:10213735 [GRCh38] ChrX:10181775 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_001830.4(CLCN4):c.755G>A (p.Arg252Lys) |
single nucleotide variant |
not provided [RCV003550123] |
ChrX:10206557 [GRCh38] ChrX:10174597 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.924C>T (p.Ile308=) |
single nucleotide variant |
not provided [RCV003856787] |
ChrX:10208125 [GRCh38] ChrX:10176165 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1444A>G (p.Met482Val) |
single nucleotide variant |
not provided [RCV003723764] |
ChrX:10212521 [GRCh38] ChrX:10180561 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1181C>G (p.Thr394Ser) |
single nucleotide variant |
not provided [RCV003717804] |
ChrX:10208382 [GRCh38] ChrX:10176422 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2107A>G (p.Thr703Ala) |
single nucleotide variant |
not provided [RCV003725721] |
ChrX:10220792 [GRCh38] ChrX:10188832 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1475A>G (p.Tyr492Cys) |
single nucleotide variant |
not provided [RCV003856202] |
ChrX:10212552 [GRCh38] ChrX:10180592 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1632G>A (p.Gly544=) |
single nucleotide variant |
not provided [RCV003813739] |
ChrX:10213736 [GRCh38] ChrX:10181776 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1338C>A (p.Ala446=) |
single nucleotide variant |
not provided [RCV003560547] |
ChrX:10208539 [GRCh38] ChrX:10176579 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1810C>T (p.Arg604Trp) |
single nucleotide variant |
not provided [RCV003852027] |
ChrX:10213914 [GRCh38] ChrX:10181954 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.245-4C>A |
single nucleotide variant |
not provided [RCV003667257] |
ChrX:10194907 [GRCh38] ChrX:10162947 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.228C>T (p.Leu76=) |
single nucleotide variant |
not provided [RCV003659549] |
ChrX:10187598 [GRCh38] ChrX:10155638 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.660C>T (p.Ser220=) |
single nucleotide variant |
not provided [RCV003699951] |
ChrX:10206462 [GRCh38] ChrX:10174502 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.600G>A (p.Gly200=) |
single nucleotide variant |
not provided [RCV003710237] |
ChrX:10206402 [GRCh38] ChrX:10174442 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2157A>C (p.Lys719Asn) |
single nucleotide variant |
not provided [RCV003568879] |
ChrX:10220842 [GRCh38] ChrX:10188882 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.244+19G>A |
single nucleotide variant |
not provided [RCV003730947] |
ChrX:10187633 [GRCh38] ChrX:10155673 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1576+18G>A |
single nucleotide variant |
not provided [RCV003846196] |
ChrX:10212671 [GRCh38] ChrX:10180711 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1911G>A (p.Val637=) |
single nucleotide variant |
not provided [RCV003678663] |
ChrX:10214015 [GRCh38] ChrX:10182055 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.795T>C (p.Ser265=) |
single nucleotide variant |
not provided [RCV003704170] |
ChrX:10206728 [GRCh38] ChrX:10174768 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.463A>G (p.Met155Val) |
single nucleotide variant |
not provided [RCV003565189] |
ChrX:10197969 [GRCh38] ChrX:10166009 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1848C>T (p.Ser616=) |
single nucleotide variant |
not provided [RCV003566994] |
ChrX:10213952 [GRCh38] ChrX:10181992 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1704A>G (p.Lys568=) |
single nucleotide variant |
not provided [RCV003733283] |
ChrX:10213808 [GRCh38] ChrX:10181848 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1390-19_1390-18del |
deletion |
not provided [RCV003555650] |
ChrX:10212446..10212447 [GRCh38] ChrX:10180486..10180487 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.288G>T (p.Thr96=) |
single nucleotide variant |
not provided [RCV003568490] |
ChrX:10194954 [GRCh38] ChrX:10162994 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.2193-12T>C |
single nucleotide variant |
not provided [RCV003685165] |
ChrX:10233482 [GRCh38] ChrX:10201522 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.59C>T (p.Pro20Leu) |
single nucleotide variant |
not provided [RCV003684137] |
ChrX:10185091 [GRCh38] ChrX:10153131 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.2082G>A (p.Arg694=) |
single nucleotide variant |
not provided [RCV003680386] |
ChrX:10220767 [GRCh38] ChrX:10188807 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.762+13A>C |
single nucleotide variant |
not provided [RCV003555809] |
ChrX:10206577 [GRCh38] ChrX:10174617 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.245-16G>A |
single nucleotide variant |
not provided [RCV003555852] |
ChrX:10194895 [GRCh38] ChrX:10162935 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1969G>A (p.Ala657Thr) |
single nucleotide variant |
not provided [RCV003684458] |
ChrX:10214073 [GRCh38] ChrX:10182113 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.31-22.2(chrX:6759774-10831816) |
copy number loss |
not specified [RCV003986234] |
ChrX:6759774..10831816 [GRCh37] ChrX:Xp22.31-22.2 |
pathogenic |
NM_001830.4(CLCN4):c.1303G>T (p.Gly435Cys) |
single nucleotide variant |
not provided [RCV003721270] |
ChrX:10208504 [GRCh38] ChrX:10176544 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
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_001830.4(CLCN4):c.280T>C (p.Trp94Arg) |
single nucleotide variant |
not provided [RCV003677810] |
ChrX:10194946 [GRCh38] ChrX:10162986 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
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_001830.4(CLCN4):c.1854T>C (p.Thr618=) |
single nucleotide variant |
not provided [RCV003844747] |
ChrX:10213958 [GRCh38] ChrX:10181998 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.287C>T (p.Thr96Met) |
single nucleotide variant |
not provided [RCV003563693] |
ChrX:10194953 [GRCh38] ChrX:10162993 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.843+11G>A |
single nucleotide variant |
not provided [RCV003568870] |
ChrX:10206787 [GRCh38] ChrX:10174827 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1192A>G (p.Ile398Val) |
single nucleotide variant |
not provided [RCV003563703] |
ChrX:10208393 [GRCh38] ChrX:10176433 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1135A>G (p.Ile379Val) |
single nucleotide variant |
not provided [RCV003735974] |
ChrX:10208336 [GRCh38] ChrX:10176376 [GRCh37] ChrX:Xp22.2 |
benign |
NM_001830.4(CLCN4):c.1248C>T (p.Tyr416=) |
single nucleotide variant |
not provided [RCV003866277] |
ChrX:10208449 [GRCh38] ChrX:10176489 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.1389+16G>A |
single nucleotide variant |
not provided [RCV003551939] |
ChrX:10208606 [GRCh38] ChrX:10176646 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_001830.4(CLCN4):c.890C>T (p.Ala297Val) |
single nucleotide variant |
not provided [RCV003552051] |
ChrX:10208091 [GRCh38] ChrX:10176131 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.337_338insTTAGCCATGAGC (p.Glu112_Gln113insLeuSerHisGlu) |
insertion |
not provided [RCV003704515] |
ChrX:10194992..10194993 [GRCh38] ChrX:10163032..10163033 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.692C>G (p.Ala231Gly) |
single nucleotide variant |
not provided [RCV003542037] |
ChrX:10206494 [GRCh38] ChrX:10174534 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.757C>T (p.Arg253Trp) |
single nucleotide variant |
not provided [RCV003887699] |
ChrX:10206559 [GRCh38] ChrX:10174599 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1606G>C (p.Val536Leu) |
single nucleotide variant |
CLCN4-related condition [RCV003914215] |
ChrX:10213710 [GRCh38] ChrX:10181750 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_001830.4(CLCN4):c.1436C>T (p.Ala479Val) |
single nucleotide variant |
Intellectual disability, X-linked 49 [RCV003338156] |
ChrX:10212513 [GRCh38] ChrX:10180553 [GRCh37] ChrX:Xp22.2 |
uncertain significance |