| NM_000276.4(OCRL):c.324C>T (p.Leu108=) |
single nucleotide variant |
not provided [RCV000548100] |
ChrX:129557410 [GRCh38]
ChrX:128691387 [GRCh37]
ChrX:Xq26.1 |
benign |
| OCRL, ARG476TRP |
single nucleotide variant |
Dent disease type 2 [RCV000022863] |
ChrX:Xq26.1 |
pathogenic |
| I526T |
single nucleotide variant |
Dent disease type 2 [RCV000022864] |
ChrX:Xq26.1 |
pathogenic |
| OCRL, 2-BP DEL, 166TT |
deletion |
Dent disease type 2 [RCV000022865] |
ChrX:Xq26.1 |
pathogenic |
| OCRL, 112-BP DEL |
deletion |
Lowe syndrome [RCV000011603] |
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) |
single nucleotide variant |
Lowe syndrome [RCV000011604] |
ChrX:129589905 [GRCh38]
ChrX:128723882 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) |
single nucleotide variant |
Lowe syndrome [RCV000011605]|not provided [RCV000724256] |
ChrX:129569296 [GRCh38]
ChrX:128703273 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.1572C>G (p.His524Gln) |
single nucleotide variant |
Lowe syndrome [RCV000011606] |
ChrX:129569369 [GRCh38]
ChrX:128703346 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys) |
single nucleotide variant |
Dent disease type 2 [RCV000011607] |
ChrX:129567333 [GRCh38]
ChrX:128701310 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) |
single nucleotide variant |
Dent disease type 2 [RCV000011608]|Lowe syndrome [RCV000059607]|not provided [RCV000727111] |
ChrX:129562396 [GRCh38]
ChrX:128696373 [GRCh37]
ChrX:Xq26.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| 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 Xq23-28(chrX:115417992-156022206)x1 |
copy number loss |
See cases [RCV000051160] |
ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 |
copy number loss |
See cases [RCV000051665] |
ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 |
copy number loss |
See cases [RCV000051666] |
ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 |
copy number loss |
See cases [RCV000051728] |
ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 |
copy number loss |
See cases [RCV000051729] |
ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 |
copy number loss |
See cases [RCV000051713] |
ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 |
copy number gain |
See cases [RCV000052322] |
ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 |
copy number gain |
See cases [RCV000052359] |
ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] |
ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 |
copy number gain |
See cases [RCV000052324] |
ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] |
ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1 |
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 Xq25-28(chrX:123731372-155687381)x3 |
copy number gain |
See cases [RCV000052445] |
ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2 |
copy number gain |
See cases [RCV000052446] |
ChrX:128395951..132383344 [GRCh38]
ChrX:127529929..131517372 [GRCh37]
ChrX:127357610..131345053 [NCBI36]
ChrX:Xq25-26.2 |
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-q28(chrX:14245-155999293)x1 |
copy number loss |
Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000276.3(OCRL):c.2554T>A (p.Tyr852Asn) |
single nucleotide variant |
Malignant melanoma [RCV000073068] |
ChrX:129589929 [GRCh38]
ChrX:128723906 [GRCh37]
ChrX:128551587 [NCBI36]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys) |
single nucleotide variant |
Lowe syndrome [RCV000059576] |
ChrX:129562453 [GRCh38]
ChrX:128696430 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1060A>C (p.Asn354His) |
single nucleotide variant |
Dent disease type 2 [RCV000059577] |
ChrX:129562602 [GRCh38]
ChrX:128696579 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1070G>A (p.Gly357Glu) |
single nucleotide variant |
Lowe syndrome [RCV000059578] |
ChrX:129562612 [GRCh38]
ChrX:128696589 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile) |
single nucleotide variant |
Lowe syndrome [RCV000059579] |
ChrX:129562624 [GRCh38]
ChrX:128696601 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1115T>G (p.Val372Gly) |
single nucleotide variant |
Lowe syndrome [RCV000059580] |
ChrX:129562657 [GRCh38]
ChrX:128696634 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1117A>T (p.Asn373Tyr) |
single nucleotide variant |
Lowe syndrome [RCV000059581] |
ChrX:129562659 [GRCh38]
ChrX:128696636 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1121C>T (p.Ser374Phe) |
single nucleotide variant |
Lowe syndrome [RCV000059582] |
ChrX:129562663 [GRCh38]
ChrX:128696640 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1123C>T (p.His375Tyr) |
single nucleotide variant |
Lowe syndrome [RCV000059583] |
ChrX:129562665 [GRCh38]
ChrX:128696642 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1241A>G (p.His414Arg) |
single nucleotide variant |
Lowe syndrome [RCV000059584] |
ChrX:129562783 [GRCh38]
ChrX:128696760 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1262G>A (p.Gly421Glu) |
single nucleotide variant |
Lowe syndrome [RCV000059585] |
ChrX:129565789 [GRCh38]
ChrX:128699766 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1270A>G (p.Asn424Asp) |
single nucleotide variant |
Lowe syndrome [RCV000059586] |
ChrX:129565797 [GRCh38]
ChrX:128699774 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1351G>A (p.Asp451Asn) |
single nucleotide variant |
Lowe syndrome [RCV000059587]|not provided [RCV000174461] |
ChrX:129565878 [GRCh38]
ChrX:128699855 [GRCh37]
ChrX:Xq26.1 |
uncertain significance|not provided |
| NM_000276.4(OCRL):c.1352A>G (p.Asp451Gly) |
single nucleotide variant |
Lowe syndrome [RCV000059588] |
ChrX:129565879 [GRCh38]
ChrX:128699856 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly) |
single nucleotide variant |
Lowe syndrome [RCV000059589] |
ChrX:129567266 [GRCh38]
ChrX:128701243 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1388T>C (p.Phe463Ser) |
single nucleotide variant |
Lowe syndrome [RCV000059590] |
ChrX:129567285 [GRCh38]
ChrX:128701262 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1402G>A (p.Glu468Lys) |
single nucleotide variant |
Lowe syndrome [RCV000059591] |
ChrX:129567299 [GRCh38]
ChrX:128701276 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1403A>G (p.Glu468Gly) |
single nucleotide variant |
Lowe syndrome [RCV000059592] |
ChrX:129567300 [GRCh38]
ChrX:128701277 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp) |
single nucleotide variant |
Dent disease type 2 [RCV000059593] |
ChrX:129569274 [GRCh38]
ChrX:128703251 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic|not provided |
| NM_000276.4(OCRL):c.1493G>A (p.Cys498Tyr) |
single nucleotide variant |
Lowe syndrome [RCV000059594] |
ChrX:129569290 [GRCh38]
ChrX:128703267 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1495G>C (p.Asp499His) |
single nucleotide variant |
Lowe syndrome [RCV000059595] |
ChrX:129569292 [GRCh38]
ChrX:128703269 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1507T>C (p.Trp503Arg) |
single nucleotide variant |
Lowe syndrome [RCV000059596] |
ChrX:129569304 [GRCh38]
ChrX:128703281 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1523T>A (p.Val508Asp) |
single nucleotide variant |
Lowe syndrome [RCV000059597] |
ChrX:129569320 [GRCh38]
ChrX:128703297 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1538A>G (p.Tyr513Cys) |
single nucleotide variant |
Lowe syndrome [RCV000059598] |
ChrX:129569335 [GRCh38]
ChrX:128703312 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1566C>G (p.Ser522Arg) |
single nucleotide variant |
Lowe syndrome [RCV000059599] |
ChrX:129569363 [GRCh38]
ChrX:128703340 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1571A>G (p.His524Arg) |
single nucleotide variant |
Lowe syndrome [RCV000059600] |
ChrX:129569368 [GRCh38]
ChrX:128703345 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu) |
single nucleotide variant |
Lowe syndrome [RCV000059601] |
ChrX:129569374 [GRCh38]
ChrX:128703351 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1773C>A (p.Asn591Lys) |
single nucleotide variant |
Lowe syndrome [RCV000059602] |
ChrX:129575956 [GRCh38]
ChrX:128709933 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.2672T>G (p.Leu891Arg) |
single nucleotide variant |
Lowe syndrome [RCV000059603] |
ChrX:129590236 [GRCh38]
ChrX:128724213 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.725T>C (p.Phe242Ser) |
single nucleotide variant |
Lowe syndrome [RCV000059604] |
ChrX:129560552 [GRCh38]
ChrX:128694529 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.821T>C (p.Ile274Thr) |
single nucleotide variant |
Lowe syndrome [RCV000059605] |
ChrX:129560648 [GRCh38]
ChrX:128694625 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.830A>G (p.Gln277Arg) |
single nucleotide variant |
Lowe syndrome [RCV000059606] |
ChrX:129561184 [GRCh38]
ChrX:128695161 [GRCh37]
ChrX:Xq26.1 |
not provided |
| NM_000276.4(OCRL):c.1498C>G (p.Arg500Gly) |
single nucleotide variant |
not provided [RCV000425689] |
ChrX:129569295 [GRCh38]
ChrX:128703272 [GRCh37]
ChrX:Xq26.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000276.4(OCRL):c.199+16C>G |
single nucleotide variant |
not specified [RCV000078493] |
ChrX:129545053 [GRCh38]
ChrX:128679030 [GRCh37]
ChrX:Xq26.1 |
benign |
| NM_000276.4(OCRL):c.2563del (p.Val855fs) |
deletion |
not provided [RCV000176362] |
ChrX:129589938 [GRCh38]
ChrX:128723915 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.2582-1G>A |
single nucleotide variant |
not provided [RCV000176451] |
ChrX:129590145 [GRCh38]
ChrX:128724122 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.439+3A>G |
single nucleotide variant |
Congenital cataract [RCV000203379]|History of neurodevelopmental disorder [RCV000715989]|Lowe syndrome [RCV000990943]|not specified [RCV000194322] |
ChrX:129557953 [GRCh38]
ChrX:128691930 [GRCh37]
ChrX:Xq26.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000276.4(OCRL):c.903_904AG[3] (p.Gly304fs) |
microsatellite |
not provided [RCV000173668] |
ChrX:129561257..129561258 [GRCh38]
ChrX:128695234..128695235 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000715851]|Lowe syndrome [RCV001083615]|not provided [RCV000514122]|not specified [RCV000117867] |
ChrX:129540745 [GRCh38]
ChrX:128674722 [GRCh37]
ChrX:Xq26.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000276.4(OCRL):c.897G>A (p.Met299Ile) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000715978]|Lowe syndrome [RCV001083860]|not provided [RCV000828293]|not specified [RCV000261174] |
ChrX:129561251 [GRCh38]
ChrX:128695228 [GRCh37]
ChrX:Xq26.1 |
benign|uncertain significance |
| NM_000276.3(OCRL):c.2271G>A (p.Gln757=) |
single nucleotide variant |
not provided [RCV000127269] |
ChrX:129588193 [GRCh38]
ChrX:128722170 [GRCh37]
ChrX:Xq26.1 |
benign |
| 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 |
| NM_000276.4(OCRL):c.1714-1G>A |
single nucleotide variant |
not provided [RCV000175133] |
ChrX:129575896 [GRCh38]
ChrX:128709873 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.1505T>C (p.Leu502Pro) |
single nucleotide variant |
not provided [RCV000174838] |
ChrX:129569302 [GRCh38]
ChrX:128703279 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| NM_000276.4(OCRL):c.2299C>T (p.Gln767Ter) |
single nucleotide variant |
not provided [RCV000176152] |
ChrX:129588221 [GRCh38]
ChrX:128722198 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.39+10G>A |
single nucleotide variant |
not provided [RCV000173095] |
ChrX:129540488 [GRCh38]
ChrX:128674465 [GRCh37]
ChrX:Xq26.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 |
copy number loss |
See cases [RCV000133792] |
ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 |
copy number gain |
See cases [RCV000133744] |
ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 |
copy number gain |
See cases [RCV000134564] |
ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 |
copy number loss |
See cases [RCV000134570] |
ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 |
copy number loss |
See cases [RCV000133947] |
ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 |
copy number gain |
See cases [RCV000134025] |
ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 |
copy number gain |
See cases [RCV000133911] |
ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
| GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 |
copy number loss |
See cases [RCV000135300] |
ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 |
copy number loss |
See cases [RCV000135321] |
ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 |
copy number loss |
See cases [RCV000135307] |
ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28 |
pathogenic |
| GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 |
copy number loss |
See cases [RCV000134958] |
ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 |
copy number loss |
See cases [RCV000134947] |
ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 |
copy number loss |
See cases [RCV000135552] |
ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 |
copy number loss |
See cases [RCV000135454] |
ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 |
copy number loss |
See cases [RCV000136478] |
ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 |
copy number gain |
See cases [RCV000136552] |
ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 |
copy number gain |
See cases [RCV000136030] |
ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 |
copy number loss |
See cases [RCV000136005] |
ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 |
copy number loss |
See cases [RCV000136095] |
ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 |
copy number loss |
See cases [RCV000136083] |
ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 |
copy number loss |
See cases [RCV000137113] |
ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 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 Xq22.1-28(chrX:102197284-156003242)x1 |
copy number loss |
See cases [RCV000137415] |
ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 |
copy number gain |
See cases [RCV000137553] |
ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 |
copy number loss |
See cases [RCV000137138] |
ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 |
copy number loss |
See cases [RCV000137167] |
ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28 |
pathogenic|uncertain significance |
| GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 |
copy number gain |
See cases [RCV000138020] |
ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28 |
pathogenic |
| GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 |
copy number gain |
See cases [RCV000138145] |
ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 |
copy number loss |
See cases [RCV000137887] |
ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 |
copy number loss |
See cases [RCV000138678] |
ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 |
copy number loss |
See cases [RCV000138787] |
ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 |
copy number loss |
See cases [RCV000138541] |
ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 |
copy number loss |
See cases [RCV000139278] |
ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 |
copy number loss |
See cases [RCV000139400] |
ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 |
copy number loss |
See cases [RCV000139351] |
ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28 |
pathogenic|likely benign |
| GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 |
copy number gain |
See cases [RCV000139416] |
ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic|likely benign |
| GRCh38/hg38 Xq26.1(chrX:129569469-129570537)x0 |
copy number loss |
See cases [RCV000139118] |
ChrX:129569469..129570537 [GRCh38]
ChrX:128703446..128704514 [GRCh37]
ChrX:128531127..128532195 [NCBI36]
ChrX:Xq26.1 |
likely pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 |
copy number gain |
See cases [RCV000139888] |
ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 |
copy number gain |
See cases [RCV000141400] |
ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 |
copy number gain |
See cases [RCV000141401] |
ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 |
copy number gain |
See cases [RCV000140786] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 |
copy number loss |
See cases [RCV000140787] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 |
copy number loss |
See cases [RCV000141825] |
ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 |
copy number loss |
See cases [RCV000142016] |
ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28 |
pathogenic |
| GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 |
copy number loss |
See cases [RCV000141743] |
ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 |
copy number loss |
See cases [RCV000142337] |
ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 |
copy number loss |
See cases [RCV000142137] |
ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28 |
pathogenic |
| GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 |
copy number loss |
See cases [RCV000142037] |
ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 |
copy number loss |
See cases [RCV000142190] |
ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xq25-26.1(chrX:129192846-130323929)x2 |
copy number gain |
See cases [RCV000143055] |
ChrX:129192846..130323929 [GRCh38]
ChrX:128326823..129457903 [GRCh37]
ChrX:128154504..129285584 [NCBI36]
ChrX:Xq25-26.1 |
uncertain significance |
| GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 |
copy number loss |
See cases [RCV000142577] |
ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 |
copy number gain |
See cases [RCV000142625] |
ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 |
copy number loss |
See cases [RCV000143424] |
ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28 |
pathogenic |
| GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 |
copy number loss |
See cases [RCV000143349] |
ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 |
copy number loss |
See cases [RCV000143441] |
ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 |
copy number gain |
See cases [RCV000143433] |
ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 |
copy number gain |
See cases [RCV000143219] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 |
copy number loss |
See cases [RCV000143132] |
ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000148141] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000148135] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000276.4(OCRL):c.970_972CTT[1] (p.Leu325del) |
microsatellite |
not provided [RCV000153615] |
ChrX:129562414..129562416 [GRCh38]
ChrX:128696391..128696393 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.471T>G (p.Ser157=) |
single nucleotide variant |
not specified [RCV000192545] |
ChrX:129558664 [GRCh38]
ChrX:128692641 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.2358_2359TG[1] (p.Val787fs) |
microsatellite |
not provided [RCV000255112] |
ChrX:129588902..129588903 [GRCh38]
ChrX:128722879..128722880 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.2256+3A>G |
single nucleotide variant |
not specified [RCV000193170] |
ChrX:129587121 [GRCh38]
ChrX:128721098 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.954C>T (p.Arg318=) |
single nucleotide variant |
not provided [RCV000923664]|not specified [RCV000193379] |
ChrX:129562398 [GRCh38]
ChrX:128696375 [GRCh37]
ChrX:Xq26.1 |
benign|uncertain significance |
| NM_000276.4(OCRL):c.40-5C>T |
single nucleotide variant |
Lowe syndrome [RCV000714602]|not specified [RCV000195233] |
ChrX:129540739 [GRCh38]
ChrX:128674716 [GRCh37]
ChrX:Xq26.1 |
pathogenic|uncertain significance |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 |
copy number gain |
See cases [RCV000240143] |
ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000276.4(OCRL):c.426_427delinsAC (p.Ser143Pro) |
indel |
not specified [RCV000193098] |
ChrX:129557937..129557938 [GRCh38]
ChrX:128691914..128691915 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.304G>A (p.Glu102Lys) |
single nucleotide variant |
not specified [RCV000194032] |
ChrX:129557390 [GRCh38]
ChrX:128691367 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| Single allele |
variation |
Lowe syndrome [RCV000192288] |
ChrX:Xq26.1 |
pathogenic |
| NC_000023.11:g.(129551601)_129559858del |
deletion |
Lowe syndrome [RCV000192289] |
|
pathogenic |
| Single allele |
deletion |
Lowe syndrome [RCV000192290] |
ChrX:129558888..129563133 [GRCh38]
ChrX:128692865..128697110 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.3(OCRL):c.-165-?_*2286+?del |
deletion |
Lowe syndrome [RCV000192291] |
|
pathogenic |
| NM_000276.3:c.2140_*2286del |
deletion |
Dent disease type 2 [RCV000192292] |
ChrX:Xq26.1 |
pathogenic |
| NG_008638.1:g.(5550_9683)_(13328_22050)del |
deletion |
Dent disease type 2 [RCV000192293] |
ChrX:Xq26.1 |
pathogenic |
| OCRL:exon 6-12 del |
deletion |
Lowe syndrome [RCV000192294] |
ChrX:Xq26.1 |
pathogenic |
| NM_000276.3(OCRL):c.-165-?_199+?del |
deletion |
Lowe syndrome [RCV000192295] |
|
pathogenic |
| NM_000276.3(OCRL):c.-165-?_238+?del |
deletion |
Lowe syndrome [RCV000192296] |
|
pathogenic |
| NC_000023.11:g.(?_126549383)_(129592556_?)del |
deletion |
Lowe syndrome [RCV000192297] |
ChrX:126549383..129592556 [GRCh38]
ChrX:Xq25-26.1 |
pathogenic |
| NM_000276.4(OCRL):c.124A>G (p.Ile42Val) |
single nucleotide variant |
not specified [RCV000194950] |
ChrX:129544962 [GRCh38]
ChrX:128678939 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 |
copy number gain |
See cases [RCV000239843] |
ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000276.4(OCRL):c.2582-1G>T |
single nucleotide variant |
not provided [RCV000265530] |
ChrX:129590145 [GRCh38]
ChrX:128724122 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 |
copy number loss |
See cases [RCV000239832] |
ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 |
copy number gain |
See cases [RCV000239798] |
ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 |
copy number gain |
See cases [RCV000240106] |
ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 |
copy number gain |
See cases [RCV000239934] |
ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000276.4(OCRL):c.940-11G>A |
single nucleotide variant |
Dent disease type 2 [RCV000590981]|Dent disease type 2 [RCV001335218]|not provided [RCV000338582] |
ChrX:129562373 [GRCh38]
ChrX:128696350 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 |
copy number gain |
See cases [RCV000240314] |
ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 |
copy number gain |
See cases [RCV000240148] |
ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| NM_000276.4(OCRL):c.1576C>T (p.Pro526Ser) |
single nucleotide variant |
not provided [RCV000256005] |
ChrX:129569373 [GRCh38]
ChrX:128703350 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 |
copy number loss |
See cases [RCV000240337] |
ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 |
copy number gain |
See cases [RCV000240464] |
ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 |
copy number gain |
See cases [RCV000240552] |
ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000276.4(OCRL):c.2470-2A>G |
single nucleotide variant |
not provided [RCV000381285] |
ChrX:129589843 [GRCh38]
ChrX:128723820 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.471T>A (p.Ser157=) |
single nucleotide variant |
not provided [RCV000332788] |
ChrX:129558664 [GRCh38]
ChrX:128692641 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.1208A>C (p.Asn403Thr) |
single nucleotide variant |
not provided [RCV000523185] |
ChrX:129562750 [GRCh38]
ChrX:128696727 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.239-4023A>G |
single nucleotide variant |
Lowe syndrome [RCV000408904] |
ChrX:129553302 [GRCh38]
ChrX:128687279 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.970_986del (p.Leu324fs) |
deletion |
not provided [RCV000627516] |
ChrX:129562413..129562429 [GRCh38]
ChrX:128696390..128696406 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter) |
single nucleotide variant |
Lowe syndrome [RCV000591698]|not provided [RCV000727227] |
ChrX:129562444 [GRCh38]
ChrX:128696421 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.723-2dup |
duplication |
not provided [RCV000599555] |
ChrX:129560547..129560548 [GRCh38]
ChrX:128694524..128694525 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| NM_000276.4(OCRL):c.1124A>G (p.His375Arg) |
single nucleotide variant |
not provided [RCV000412922] |
ChrX:129562666 [GRCh38]
ChrX:128696643 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter) |
single nucleotide variant |
Lowe syndrome [RCV000768436]|not provided [RCV000729366] |
ChrX:129588972 [GRCh38]
ChrX:128722949 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
See cases [RCV000449330] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) |
copy number loss |
See cases [RCV000449461] |
ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 |
copy number loss |
See cases [RCV000449365] |
ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28 |
pathogenic |
| GRCh37/hg19 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:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 |
copy number loss |
See cases [RCV000446197] |
ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 |
copy number loss |
See cases [RCV000446667] |
ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 |
copy number loss |
See cases [RCV000447490] |
ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28 |
pathogenic |
| GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 |
copy number gain |
See cases [RCV000446151] |
ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)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:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 |
copy number gain |
See cases [RCV000446318] |
ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1 |
pathogenic |
| GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 |
copy number gain |
See cases [RCV000446471] |
ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX: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_000276.4(OCRL):c.2695G>A (p.Glu899Lys) |
single nucleotide variant |
not provided [RCV000445063] |
ChrX:129590259 [GRCh38]
ChrX:128724236 [GRCh37]
ChrX:Xq26.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000276.4(OCRL):c.926C>T (p.Ala309Val) |
single nucleotide variant |
not provided [RCV000438706] |
ChrX:129561280 [GRCh38]
ChrX:128695257 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.1040G>A (p.Gly347Glu) |
single nucleotide variant |
not provided [RCV000424806] |
ChrX:129562484 [GRCh38]
ChrX:128696461 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 |
copy number loss |
See cases [RCV000445891] |
ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28 |
pathogenic |
| NM_000276.4(OCRL):c.1573A>C (p.Lys525Gln) |
single nucleotide variant |
not provided [RCV000430869] |
ChrX:129569370 [GRCh38]
ChrX:128703347 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.1570C>T (p.His524Tyr) |
single nucleotide variant |
not provided [RCV000434372] |
ChrX:129569367 [GRCh38]
ChrX:128703344 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| NM_000276.4(OCRL):c.1095del (p.His365fs) |
deletion |
not provided [RCV000441341] |
ChrX:129562637 [GRCh38]
ChrX:128696614 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710)x2 |
copy number gain |
See cases [RCV000448112] |
ChrX:126307810..131646710 [GRCh37]
ChrX:Xq25-26.2 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 |
copy number loss |
See cases [RCV000448724] |
ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 |
copy number gain |
See cases [RCV000448034] |
ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 |
copy number loss |
See cases [RCV000448652] |
ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 |
copy number gain |
See cases [RCV000448394] |
ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1 |
pathogenic |
| GRCh37/hg19 Xq25(chrX:128674689-128674924)x3 |
copy number gain |
See cases [RCV000448043] |
ChrX:128674689..128674924 [GRCh37]
ChrX:Xq25 |
benign |
| GRCh37/hg19 Xq25-26.2(chrX:123108906-133026079)x3 |
copy number gain |
See cases [RCV000448069] |
ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2 |
likely pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 |
copy number loss |
See cases [RCV000448870] |
ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_000276.4(OCRL):c.25G>A (p.Ala9Thr) |
single nucleotide variant |
not provided [RCV000482529] |
ChrX:129540464 [GRCh38]
ChrX:128674441 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| GRCh37/hg19 Xq25-26.1(chrX:128311362-129281516)x3 |
copy number gain |
See cases [RCV000510392] |
ChrX:128311362..129281516 [GRCh37]
ChrX:Xq25-26.1 |
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 |
| NM_000276.4(OCRL):c.50G>C (p.Gly17Ala) |
single nucleotide variant |
not specified [RCV000502299] |
ChrX:129540754 [GRCh38]
ChrX:128674731 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 |
copy number gain |
See cases [RCV000511787] |
ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28 |
pathogenic |
| GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 |
copy number loss |
See cases [RCV000511572] |
ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28 |
pathogenic |
| GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 |
copy number loss |
See cases [RCV000511936] |
ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) |
copy number gain |
See cases [RCV000512020] |
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 |
copy number loss |
See cases [RCV000511482] |
ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| NM_000276.4(OCRL):c.561-7T>A |
single nucleotide variant |
none provided [RCV000507671]|not provided [RCV000927749] |
ChrX:129558833 [GRCh38]
ChrX:128692810 [GRCh37]
ChrX:Xq26.1 |
benign|likely benign |
| GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 |
copy number loss |
See cases [RCV000511490] |
ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 |
copy number gain |
See cases [RCV000511307] |
ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 |
copy number loss |
See cases [RCV000510820] |
ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 |
copy number gain |
See cases [RCV000510826] |
ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28 |
pathogenic |
| NM_000276.4(OCRL):c.1602G>A (p.Gly534=) |
single nucleotide variant |
Lowe syndrome [RCV000537877] |
ChrX:129569399 [GRCh38]
ChrX:128703376 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000623245]|Lowe syndrome [RCV000680054] |
ChrX:129575158 [GRCh38]
ChrX:128709135 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.2635C>T (p.Gln879Ter) |
single nucleotide variant |
Lowe syndrome [RCV000632785] |
ChrX:129590199 [GRCh38]
ChrX:128724176 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.2427G>A (p.Gln809=) |
single nucleotide variant |
not provided [RCV000632786] |
ChrX:129588971 [GRCh38]
ChrX:128722948 [GRCh37]
ChrX:Xq26.1 |
likely benign |
| NM_000276.4(OCRL):c.1298A>G (p.Asn433Ser) |
single nucleotide variant |
not provided [RCV000595512] |
ChrX:129565825 [GRCh38]
ChrX:128699802 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.860dup (p.Tyr288fs) |
duplication |
Lowe syndrome [RCV000541094] |
ChrX:129561212..129561213 [GRCh38]
ChrX:128695189..128695190 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 |
copy number gain |
See cases [RCV000512365] |
ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28 |
uncertain significance |
| GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 |
copy number loss |
See cases [RCV000512372] |
ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28 |
pathogenic |
| GRCh37/hg19 Xq25-26.1(chrX:128605962-128710578)x3 |
copy number gain |
See cases [RCV000512324] |
ChrX:128605962..128710578 [GRCh37]
ChrX:Xq25-26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.2139+4A>G |
single nucleotide variant |
not provided [RCV000585017] |
ChrX:129584371 [GRCh38]
ChrX:128718348 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 |
copy number gain |
See cases [RCV000512173] |
ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_000276.4(OCRL):c.187_199+449del |
deletion |
Dent disease type 2 [RCV000662294] |
ChrX:129545025..129545486 [GRCh38]
ChrX:128679002..128679463 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| NM_000276.4(OCRL):c.1657A>G (p.Ile553Val) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000717495] |
ChrX:129575194 [GRCh38]
ChrX:128709171 [GRCh37]
ChrX:Xq26.1 |
likely benign |
| GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 |
copy number loss |
not provided [RCV000684387] |
ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3 |
pathogenic |
| GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 |
copy number loss |
not provided [RCV000684373] |
ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28 |
pathogenic |
| GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 |
copy number loss |
not provided [RCV000684357] |
ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28 |
pathogenic |
| GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 |
copy number loss |
not provided [RCV000684363] |
ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28 |
pathogenic |
| GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 |
copy number gain |
not provided [RCV000684377] |
ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1 |
pathogenic |
| GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 |
copy number loss |
not provided [RCV000684380] |
ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1 |
pathogenic |
| NM_000276.4(OCRL):c.952C>A (p.Arg318Ser) |
single nucleotide variant |
not provided [RCV000681712] |
ChrX:129562396 [GRCh38]
ChrX:128696373 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 |
copy number loss |
not provided [RCV000684386] |
ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28 |
pathogenic |
| NM_000276.4(OCRL):c.560+1G>C |
single nucleotide variant |
Lowe syndrome [RCV000701856] |
ChrX:129558754 [GRCh38]
ChrX:128692731 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro) |
single nucleotide variant |
Lowe syndrome [RCV000687544] |
ChrX:129588933 [GRCh38]
ChrX:128722910 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.1367A>C (p.Gln456Pro) |
single nucleotide variant |
Lowe syndrome [RCV000702966] |
ChrX:129567264 [GRCh38]
ChrX:128701241 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.1514G>A (p.Gly505Glu) |
single nucleotide variant |
Lowe syndrome [RCV000688552] |
ChrX:129569311 [GRCh38]
ChrX:128703288 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 |
copy number loss |
not provided [RCV000847838] |
ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28 |
pathogenic |
| NM_000276.4(OCRL):c.769G>A (p.Gly257Arg) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000716126] |
ChrX:129560596 [GRCh38]
ChrX:128694573 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.1221G>A (p.Pro407=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000718434] |
ChrX:129562763 [GRCh38]
ChrX:128696740 [GRCh37]
ChrX:Xq26.1 |
likely benign |
| NM_000276.4(OCRL):c.375G>T (p.Glu125Asp) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000718753]|Lowe syndrome [RCV000873690] |
ChrX:129557886 [GRCh38]
ChrX:128691863 [GRCh37]
ChrX:Xq26.1 |
benign |
| NM_000276.4(OCRL):c.1291G>A (p.Asp431Asn) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000721090]|not provided [RCV000878673] |
ChrX:129565818 [GRCh38]
ChrX:128699795 [GRCh37]
ChrX:Xq26.1 |
benign|likely benign |
| NM_000276.4(OCRL):c.105G>A (p.Arg35=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000718012]|not provided [RCV000955627] |
ChrX:129540809 [GRCh38]
ChrX:128674786 [GRCh37]
ChrX:Xq26.1 |
benign|likely benign |
| NM_000276.4(OCRL):c.1104C>T (p.Thr368=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000718451] |
ChrX:129562646 [GRCh38]
ChrX:128696623 [GRCh37]
ChrX:Xq26.1 |
likely benign |
| GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 |
copy number loss |
not provided [RCV000849097] |
ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000276.4(OCRL):c.1440_1441CT[1] (p.Asp480_Ser481insTer) |
microsatellite |
Lowe syndrome [RCV000806128] |
ChrX:129567337..129567338 [GRCh38]
ChrX:128701314..128701315 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.780_781insACT (p.Trp261_Leu262insThr) |
insertion |
not provided [RCV000735076] |
ChrX:129560605..129560606 [GRCh38]
ChrX:128694582..128694583 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 |
copy number loss |
not provided [RCV000846274] |
ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xq26.1(chrX:128723451-129281476)x2 |
copy number gain |
not provided [RCV000753774] |
ChrX:128723451..129281476 [GRCh37]
ChrX:Xq26.1 |
benign |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 |
copy number loss |
not provided [RCV000753606] |
ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 |
copy number loss |
not provided [RCV000753271] |
ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 |
copy number loss |
not provided [RCV000753278] |
ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 |
copy number gain |
not provided [RCV000753272] |
ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| Single allele |
duplication |
Autistic disorder of childhood onset [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 |
| GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 |
copy number loss |
not provided [RCV000753556] |
ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| NC_000023.10:g.36649710_136649711del100000002insG |
indel |
Heterotaxy, visceral, 1, X-linked [RCV000754886] |
ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3 |
pathogenic |
| NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile) |
single nucleotide variant |
not provided [RCV000762668] |
ChrX:129590244 [GRCh38]
ChrX:128724221 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 |
copy number loss |
not provided [RCV001007322] |
ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| NM_000276.4(OCRL):c.109G>C (p.Gly37Arg) |
single nucleotide variant |
not provided [RCV000996015] |
ChrX:129540813 [GRCh38]
ChrX:128674790 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.2341+1G>A |
single nucleotide variant |
not provided [RCV000996016] |
ChrX:129588264 [GRCh38]
ChrX:128722241 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| NM_000276.4(OCRL):c.109G>A (p.Gly37Arg) |
single nucleotide variant |
not provided [RCV000887310] |
ChrX:129540813 [GRCh38]
ChrX:128674790 [GRCh37]
ChrX:Xq26.1 |
likely benign |
| NM_000276.4(OCRL):c.441G>A (p.Gly147=) |
single nucleotide variant |
Lowe syndrome [RCV000909146] |
ChrX:129558634 [GRCh38]
ChrX:128692611 [GRCh37]
ChrX:Xq26.1 |
likely benign |
| NM_000276.4(OCRL):c.2116-9C>T |
single nucleotide variant |
not provided [RCV000945439] |
ChrX:129584335 [GRCh38]
ChrX:128718312 [GRCh37]
ChrX:Xq26.1 |
benign |
| NM_000276.4(OCRL):c.2694C>T (p.Ser898=) |
single nucleotide variant |
not provided [RCV000927410] |
ChrX:129590258 [GRCh38]
ChrX:128724235 [GRCh37]
ChrX:Xq26.1 |
benign |
| NM_000276.4(OCRL):c.2563G>A (p.Val855Ile) |
single nucleotide variant |
Lowe syndrome [RCV000937727] |
ChrX:129589938 [GRCh38]
ChrX:128723915 [GRCh37]
ChrX:Xq26.1 |
likely benign |
| NM_000276.4(OCRL):c.40-80dup |
duplication |
Lowe syndrome [RCV000990942] |
ChrX:129540654..129540655 [GRCh38]
ChrX:128674631..128674632 [GRCh37]
ChrX:Xq26.1 |
benign |
| NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter) |
single nucleotide variant |
Dent disease type 2 [RCV000851318]|Lowe syndrome [RCV000794610] |
ChrX:129589008 [GRCh38]
ChrX:128722985 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.746T>G (p.Val249Gly) |
single nucleotide variant |
Lowe syndrome [RCV000806346] |
ChrX:129560573 [GRCh38]
ChrX:128694550 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.1370G>C (p.Arg457Pro) |
single nucleotide variant |
Lowe syndrome [RCV000801650] |
ChrX:129567267 [GRCh38]
ChrX:128701244 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.674_675AT[1] (p.Ile226fs) |
microsatellite |
Lowe syndrome [RCV000791535] |
ChrX:129558953..129558954 [GRCh38]
ChrX:128692930..128692931 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq25(chrX:128662912-128682275)x2 |
copy number gain |
not provided [RCV000846421] |
ChrX:128662912..128682275 [GRCh37]
ChrX:Xq25 |
uncertain significance |
| NM_000276.4(OCRL):c.2470-1G>A |
single nucleotide variant |
Lowe syndrome [RCV000814175] |
ChrX:129589844 [GRCh38]
ChrX:128723821 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| NM_000276.4(OCRL):c.741G>A (p.Trp247Ter) |
single nucleotide variant |
Lowe syndrome [RCV001095682] |
ChrX:129560568 [GRCh38]
ChrX:128694545 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| NM_000276.4(OCRL):c.497C>A (p.Ser166Ter) |
single nucleotide variant |
not provided [RCV001091716] |
ChrX:129558690 [GRCh38]
ChrX:128692667 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 |
copy number gain |
not provided [RCV001007336] |
ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1 |
pathogenic |
| NM_000276.4(OCRL):c.1244+1338_1366del |
deletion |
Lowe syndrome [RCV000795789] |
ChrX:129564123..129567262 [GRCh38]
ChrX:128698100..128701239 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter) |
single nucleotide variant |
Lowe syndrome [RCV000824979] |
ChrX:129569295 [GRCh38]
ChrX:128703272 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.1467-3C>G |
single nucleotide variant |
Lowe syndrome [RCV000822414] |
ChrX:129569261 [GRCh38]
ChrX:128703238 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.560+9C>A |
single nucleotide variant |
not provided [RCV000920035] |
ChrX:129558762 [GRCh38]
ChrX:128692739 [GRCh37]
ChrX:Xq26.1 |
likely benign |
| NM_000276.4(OCRL):c.1907T>A (p.Val636Glu) |
single nucleotide variant |
Lowe syndrome [RCV000850187] |
ChrX:129576344 [GRCh38]
ChrX:128710321 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.3(OCRL):c.2557_2558insLINE1 |
insertion |
not provided [RCV000991129] |
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.1979A>C (p.His660Pro) |
single nucleotide variant |
Lowe syndrome [RCV000850186] |
ChrX:129576416 [GRCh38]
ChrX:128710393 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 |
copy number loss |
not provided [RCV001007318] |
ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| NM_000276.4(OCRL):c.824G>C (p.Gly275Ala) |
single nucleotide variant |
Lowe syndrome [RCV001029771] |
ChrX:129560651 [GRCh38]
ChrX:128694628 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 |
copy number loss |
not provided [RCV000846958] |
ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 |
copy number loss |
not provided [RCV000848218] |
ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
uncertain significance |
| NM_000276.4(OCRL):c.533dup (p.Pro179fs) |
duplication |
not provided [RCV001008532] |
ChrX:129558721..129558722 [GRCh38]
ChrX:128692698..128692699 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 |
copy number loss |
not provided [RCV000845672] |
ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28 |
pathogenic |
| GRCh37/hg19 Xq25-26.1(chrX:128194529-129017909)x3 |
copy number gain |
not provided [RCV001007343] |
ChrX:128194529..129017909 [GRCh37]
ChrX:Xq25-26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.1244+1G>A |
single nucleotide variant |
Lowe syndrome [RCV001234126] |
ChrX:129562787 [GRCh38]
ChrX:128696764 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.1355A>G (p.Gln452Arg) |
single nucleotide variant |
Lowe syndrome [RCV001217384] |
ChrX:129565882 [GRCh38]
ChrX:128699859 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.2582-9G>A |
single nucleotide variant |
not provided [RCV000951564] |
ChrX:129590137 [GRCh38]
ChrX:128724114 [GRCh37]
ChrX:Xq26.1 |
benign |
| NM_000276.4(OCRL):c.2177G>T (p.Gly726Val) |
single nucleotide variant |
Lowe syndrome [RCV000969818] |
ChrX:129587039 [GRCh38]
ChrX:128721016 [GRCh37]
ChrX:Xq26.1 |
benign |
| NM_000276.4(OCRL):c.1587C>G (p.Ala529=) |
single nucleotide variant |
not provided [RCV000907214] |
ChrX:129569384 [GRCh38]
ChrX:128703361 [GRCh37]
ChrX:Xq26.1 |
likely benign |
| NM_000276.4(OCRL):c.807T>C (p.Pro269=) |
single nucleotide variant |
not provided [RCV000952214] |
ChrX:129560634 [GRCh38]
ChrX:128694611 [GRCh37]
ChrX:Xq26.1 |
likely benign |
| GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 |
copy number loss |
Premature ovarian insufficiency [RCV000852349] |
ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28 |
likely pathogenic |
| NM_000276.4(OCRL):c.350-5T>C |
single nucleotide variant |
not provided [RCV000954543] |
ChrX:129557856 [GRCh38]
ChrX:128691833 [GRCh37]
ChrX:Xq26.1 |
likely benign |
| NM_000276.4(OCRL):c.912T>G (p.Gly304=) |
single nucleotide variant |
not provided [RCV000872219] |
ChrX:129561266 [GRCh38]
ChrX:128695243 [GRCh37]
ChrX:Xq26.1 |
benign |
| NM_000276.4(OCRL):c.39+9C>G |
single nucleotide variant |
not provided [RCV000921940] |
ChrX:129540487 [GRCh38]
ChrX:128674464 [GRCh37]
ChrX:Xq26.1 |
likely benign |
| NC_000023.10:g.(?_128674397)_(128975941_?)dup |
duplication |
Mental retardation, X-linked, syndromic, Raymond type [RCV001031704] |
ChrX:128674397..128975941 [GRCh37]
ChrX:Xq25-26.1 |
uncertain significance |
| NC_000023.11:g.129557325del |
deletion |
not provided [RCV001008574] |
ChrX:129557324 [GRCh38]
ChrX:128691301 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.1466+1G>A |
single nucleotide variant |
Lowe syndrome [RCV001264796] |
ChrX:129567364 [GRCh38]
ChrX:128701341 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| NM_000276.4(OCRL):c.1245-1083G>A |
single nucleotide variant |
Dent disease type 2 [RCV001251424] |
ChrX:129564689 [GRCh38]
ChrX:128698666 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.2469+1G>A |
single nucleotide variant |
Lowe syndrome [RCV001036352] |
ChrX:129589014 [GRCh38]
ChrX:128722991 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| NM_000276.4(OCRL):c.1753_1755del (p.Glu585del) |
deletion |
Lowe syndrome [RCV001049745] |
ChrX:129575934..129575936 [GRCh38]
ChrX:128709911..128709913 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.2357_2358del (p.Ser786fs) |
microsatellite |
not provided [RCV001200547] |
ChrX:129588899..129588900 [GRCh38]
ChrX:128722876..128722877 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:122132166-155097214) |
copy number loss |
Intellectual disability [RCV001249592] |
ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28 |
likely pathogenic |
| NM_000276.4(OCRL):c.643C>T (p.Gln215Ter) |
single nucleotide variant |
Lowe syndrome [RCV001172281] |
ChrX:129558922 [GRCh38]
ChrX:128692899 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.2078C>T (p.Pro693Leu) |
single nucleotide variant |
Dent disease type 2 [RCV001200920] |
ChrX:129576515 [GRCh38]
ChrX:128710492 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.809A>G (p.Asp270Gly) |
single nucleotide variant |
Lowe syndrome [RCV001042161] |
ChrX:129560636 [GRCh38]
ChrX:128694613 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.11C>T (p.Pro4Leu) |
single nucleotide variant |
not provided [RCV001253831] |
ChrX:129540450 [GRCh38]
ChrX:128674427 [GRCh37]
ChrX:Xq26.1 |
likely benign |
| NM_000276.4(OCRL):c.19G>T (p.Val7Phe) |
single nucleotide variant |
Intellectual disability [RCV001255122] |
ChrX:129540458 [GRCh38]
ChrX:128674435 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 |
copy number loss |
not provided [RCV001259012] |
ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28 |
pathogenic |
| NM_000276.4(OCRL):c.1466+4A>G |
single nucleotide variant |
Dent disease type 2 [RCV001262140] |
ChrX:129567367 [GRCh38]
ChrX:128701344 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 |
copy number gain |
not provided [RCV001259495] |
ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1 |
pathogenic |
| NM_000276.4(OCRL):c.2651_2653del (p.Arg884del) |
deletion |
Dent disease type 2 [RCV001262141] |
ChrX:129590213..129590215 [GRCh38]
ChrX:128724190..128724192 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.2414dup (p.Tyr805Ter) |
duplication |
not provided [RCV001268358] |
ChrX:129588957..129588958 [GRCh38]
ChrX:128722934..128722935 [GRCh37]
ChrX:Xq26.1 |
pathogenic |
| NM_000276.4(OCRL):c.1568A>C (p.Asp523Ala) |
single nucleotide variant |
not provided [RCV001268272] |
ChrX:129569365 [GRCh38]
ChrX:128703342 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| GRCh37/hg19 Xq25-26.1(chrX:128679172-128818324)x2 |
copy number gain |
not provided [RCV001259504] |
ChrX:128679172..128818324 [GRCh37]
ChrX:Xq25-26.1 |
uncertain significance |
| GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 |
copy number gain |
See cases [RCV001263024] |
ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_000276.4(OCRL):c.934A>G (p.Lys312Glu) |
single nucleotide variant |
Dent disease type 2 [RCV001329157] |
ChrX:129561288 [GRCh38]
ChrX:128695265 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 |
copy number gain |
not provided [RCV001281359] |
ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_000276.4(OCRL):c.533del (p.Pro178fs) |
deletion |
Dent disease type 2 [RCV001328163] |
ChrX:129558722 [GRCh38]
ChrX:128692699 [GRCh37]
ChrX:Xq26.1 |
likely pathogenic |
| NM_000276.4(OCRL):c.1454G>C (p.Arg485Pro) |
single nucleotide variant |
Lowe syndrome [RCV001318481] |
ChrX:129567351 [GRCh38]
ChrX:128701328 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.428C>T (p.Ser143Phe) |
single nucleotide variant |
Dent disease type 2 [RCV001329156] |
ChrX:129557939 [GRCh38]
ChrX:128691916 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.1988G>T (p.Arg663Leu) |
single nucleotide variant |
Lowe syndrome [RCV001299927] |
ChrX:129576425 [GRCh38]
ChrX:128710402 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.2066G>A (p.Arg689His) |
single nucleotide variant |
Lowe syndrome [RCV001291799] |
ChrX:129576503 [GRCh38]
ChrX:128710480 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
| NM_000276.4(OCRL):c.1656C>T (p.Arg552=) |
single nucleotide variant |
Dent disease type 2 [RCV001329155] |
ChrX:129575193 [GRCh38]
ChrX:128709170 [GRCh37]
ChrX:Xq26.1 |
uncertain significance |
