VCX (variable charge X-linked) - Rat Genome Database

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Gene: VCX (variable charge X-linked) Homo sapiens
Analyze
Symbol: VCX
Name: variable charge X-linked
RGD ID: 1343537
HGNC Page HGNC
Description: Predicted to have chromatin binding activity. Predicted to be involved in brain development. Localizes to nucleolus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: MGC118975; variable charge protein on X with ten repeats; variable charge X-linked protein 1; variable charge, X chromosome; variable charge, X-linked; variably charged protein X-B1; VCX-10r; VCX-B1; VCX1; VCX10R; VCXB1
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX7,842,262 - 7,844,143 (+)EnsemblGRCh38hg38GRCh38
GRCh38X7,842,262 - 7,844,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X7,810,303 - 7,812,184 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X7,770,303 - 7,772,184 (+)NCBINCBI36hg18NCBI36
Build 34X8,243,201 - 8,244,286NCBI
CeleraX11,985,704 - 11,987,525 (+)NCBI
Cytogenetic MapXp22.31NCBI
HuRefX5,618,278 - 5,619,639 (+)NCBIHuRef
CHM1_1X7,791,239 - 7,792,969 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleolus  (IDA)
nucleus  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:10607842   PMID:10903929   PMID:12477932   PMID:12826317   PMID:12862317   PMID:17342728   PMID:21873635   PMID:24970476   PMID:27705943   PMID:31161555   PMID:32296183  


Genomics

Position Markers
DXS8175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,810,034 - 7,810,194UniSTSGRCh37
Build 36X7,770,034 - 7,770,194RGDNCBI36
CeleraX11,985,435 - 11,985,595RGD
Cytogenetic MapXp22UniSTS
HuRefX5,618,009 - 5,618,169UniSTS
UniSTS:482528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X8,433,467 - 8,434,444UniSTSGRCh37
GRCh37X7,811,220 - 7,812,077UniSTSGRCh37
CeleraX12,611,511 - 12,612,488UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:439
Count of miRNA genes:226
Interacting mature miRNAs:236
Transcripts:ENST00000341408, ENST00000381059
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 4 3 1 9 2 5 3 3 335 11
Low 31 35 68 47 86 46 226 15 283 18 129 98 2 5 149 2
Below cutoff 718 875 769 184 635 105 1549 602 2496 164 384 713 85 442 926 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000341408   ⟹   ENSP00000344144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,843,088 - 7,844,016 (+)Ensembl
RefSeq Acc Id: ENST00000381059   ⟹   ENSP00000370447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,842,262 - 7,844,143 (+)Ensembl
RefSeq Acc Id: ENST00000620630   ⟹   ENSP00000484419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,842,262 - 7,844,143 (+)Ensembl
RefSeq Acc Id: NM_001393662   ⟹   NP_001380591
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,843,171 - 7,844,143 (+)NCBI
RefSeq Acc Id: NM_013452   ⟹   NP_038480
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,842,262 - 7,844,143 (+)NCBI
GRCh37X7,810,303 - 7,812,184 (+)RGD
Build 36X7,770,303 - 7,772,184 (+)NCBI Archive
CeleraX11,985,704 - 11,987,525 (+)RGD
HuRefX5,618,278 - 5,619,639 (+)RGD
CHM1_1X7,791,239 - 7,792,969 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545490   ⟹   XP_011543792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,843,115 - 7,844,143 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_038480   ⟸   NM_013452
- UniProtKB: Q9H320 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543792   ⟸   XM_011545490
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000484419   ⟸   ENST00000620630
RefSeq Acc Id: ENSP00000344144   ⟸   ENST00000341408
RefSeq Acc Id: ENSP00000370447   ⟸   ENST00000381059
RefSeq Acc Id: NP_001380591   ⟸   NM_001393662

Promoters
RGD ID:13604678
Promoter ID:EPDNEW_H28523
Type:multiple initiation site
Name:VCX_1
Description:variable charge, X-linked
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,843,171 - 7,843,231EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical 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
GRCh38/hg38 Xp22.31(chrX:6570680-8082609)x2 copy number gain See cases [RCV000050803] ChrX:6570680..8082609 [GRCh38]
ChrX:6488721..8050650 [GRCh37]
ChrX:6498721..8010650 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(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:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(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 Xp22.33-11.3(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 Xp22.31(chrX:6570480-8129611)x0 copy number loss See cases [RCV000053049] ChrX:6570480..8129611 [GRCh38]
ChrX:6488521..8097652 [GRCh37]
ChrX:6498521..8057652 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x0 copy number loss See cases [RCV000053051] ChrX:6570680..8129470 [GRCh38]
ChrX:6488721..8097511 [GRCh37]
ChrX:6498721..8057511 [NCBI36]
ChrX:Xp22.31
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 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.2(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 Xp22.33-11.21(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 Xp22.33-22.31(chrX:26102-8495903)x1 copy number loss See cases [RCV000052991] ChrX:26102..8495903 [GRCh38]
ChrX:76102..8463944 [GRCh37]
ChrX:16102..8423944 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.32-22.2(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 Xp22.31(chrX:6534166-8181150)x0 copy number loss See cases [RCV000053031] ChrX:6534166..8181150 [GRCh38]
ChrX:6452207..8149191 [GRCh37]
ChrX:6462207..8109191 [NCBI36]
ChrX:Xp22.31
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 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-22.2(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 Xp22.33-22.2(chrX:2777300-10034145)x1 copy number loss See cases [RCV000053008] ChrX:2777300..10034145 [GRCh38]
ChrX:2695341..10002185 [GRCh37]
ChrX:2705341..9962185 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:2782275-8961059)x0 copy number loss See cases [RCV000053011] ChrX:2782275..8961059 [GRCh38]
ChrX:2700316..8929100 [GRCh37]
ChrX:2710316..8889100 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.31(chrX:6534166-8158120)x0 copy number loss See cases [RCV000053033] ChrX:6534166..8158120 [GRCh38]
ChrX:6452207..8126161 [GRCh37]
ChrX:6462207..8086161 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6536991-8163769)x1 copy number loss See cases [RCV000053034] ChrX:6536991..8163769 [GRCh38]
ChrX:6455032..8131810 [GRCh37]
ChrX:6465032..8091810 [NCBI36]
ChrX:Xp22.31
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-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 Xp22.31(chrX:6534166-8168680)x2 copy number gain See cases [RCV000053688] ChrX:6534166..8168680 [GRCh38]
ChrX:6452207..8136721 [GRCh37]
ChrX:6462207..8096721 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6534166-8148026)x3 copy number gain See cases [RCV000053690] ChrX:6534166..8148026 [GRCh38]
ChrX:6452207..8116067 [GRCh37]
ChrX:6462207..8076067 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6539362-8064079)x2 copy number gain See cases [RCV000053692] ChrX:6539362..8064079 [GRCh38]
ChrX:6457403..8032120 [GRCh37]
ChrX:6467403..7992120 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6548965-8147112)x3 copy number gain See cases [RCV000053694] ChrX:6548965..8147112 [GRCh38]
ChrX:6467006..8115153 [GRCh37]
ChrX:6477006..8075153 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6548965-8147112)x1 copy number loss See cases [RCV000053695] ChrX:6548965..8147112 [GRCh38]
ChrX:6467006..8115153 [GRCh37]
ChrX:6477006..8075153 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053818]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053818]|See cases [RCV000053818] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31(chrX:6179830-8605251)x2 copy number gain See cases [RCV000515607] ChrX:6179830..8605251 [GRCh37]
ChrX:Xp22.31
likely pathogenic
GRCh38/hg38 Xp22.31(chrX:6570680-8082609)x3 copy number gain See cases [RCV000050802] ChrX:6570680..8082609 [GRCh38]
ChrX:6488721..8050650 [GRCh37]
ChrX:6498721..8010650 [NCBI36]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:6456777-8119329)x1 copy number loss See cases [RCV000184077] ChrX:6456777..8119329 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6456837-8119329)x0 copy number loss See cases [RCV000184076] ChrX:6456837..8119329 [GRCh37]
ChrX:Xp22.31
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 Xp22.31(chrX:7614505-8129470)x2 copy number gain See cases [RCV000133866] ChrX:7614505..8129470 [GRCh38]
ChrX:7532546..8097511 [GRCh37]
ChrX:7542546..8057511 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x1 copy number loss See cases [RCV000053052] ChrX:6570680..8129470 [GRCh38]
ChrX:6488721..8097511 [GRCh37]
ChrX:6498721..8057511 [NCBI36]
ChrX:Xp22.31
conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3 copy number gain See cases [RCV000053818] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6539362-8064079)x3 copy number gain See cases [RCV000133598] ChrX:6539362..8064079 [GRCh38]
ChrX:6457403..8032120 [GRCh37]
ChrX:6467403..7992120 [NCBI36]
ChrX:Xp22.31
benign
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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-22.31(chrX:10679-9459643)x1 copy number loss See cases [RCV000134136] ChrX:10679..9459643 [GRCh38]
ChrX:60679..9427683 [GRCh37]
ChrX:679..9387683 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6531603-8147053)x0 copy number loss See cases [RCV000135351] ChrX:6531603..8147053 [GRCh38]
ChrX:6449644..8115094 [GRCh37]
ChrX:6459644..8075094 [NCBI36]
ChrX:Xp22.31
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(chrX:6710223-8129470)x3 copy number gain See cases [RCV000135396] ChrX:6710223..8129470 [GRCh38]
ChrX:6628264..8097511 [GRCh37]
ChrX:6638264..8057511 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:1202712-7928490)x0 copy number loss See cases [RCV000135329] ChrX:1202712..7928490 [GRCh38]
ChrX:1321581..7896531 [GRCh37]
ChrX:1281581..7856531 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.31(chrX:7411158-8037085)x3 copy number gain See cases [RCV000134835] ChrX:7411158..8037085 [GRCh38]
ChrX:7329199..8005126 [GRCh37]
ChrX:7339199..7965126 [NCBI36]
ChrX:Xp22.31
likely benign
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 Xp22.31(chrX:6570680-8129470)x3 copy number gain See cases [RCV000135734] ChrX:6570680..8129470 [GRCh38]
ChrX:6488721..8097511 [GRCh37]
ChrX:6498721..8057511 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x2 copy number gain See cases [RCV000135735] ChrX:6570680..8129470 [GRCh38]
ChrX:6488721..8097511 [GRCh37]
ChrX:6498721..8057511 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x1 copy number loss See cases [RCV000135756] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:7072209-9374317)x0 copy number loss See cases [RCV000135789] ChrX:7072209..9374317 [GRCh38]
ChrX:6990250..9342357 [GRCh37]
ChrX:7000250..9302357 [NCBI36]
ChrX:Xp22.31
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 Xp22.31(chrX:6787227-7917114)x1 copy number loss See cases [RCV000135537] ChrX:6787227..7917114 [GRCh38]
ChrX:6705268..7885155 [GRCh37]
ChrX:6715268..7845155 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:7021831-8129470)x0 copy number loss See cases [RCV000135540] ChrX:7021831..8129470 [GRCh38]
ChrX:6939872..8097511 [GRCh37]
ChrX:6949872..8057511 [NCBI36]
ChrX:Xp22.31
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 Xp22.33-22.31(chrX:10701-8466385)x1 copy number loss See cases [RCV000136524] ChrX:10701..8466385 [GRCh38]
ChrX:60701..8434426 [GRCh37]
ChrX:701..8394426 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31(chrX:7666592-8706315)x3 copy number gain See cases [RCV000136551] ChrX:7666592..8706315 [GRCh38]
ChrX:7584633..8674356 [GRCh37]
ChrX:7594633..8634356 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:6570421-8129470)x1 copy number loss See cases [RCV000136087] ChrX:6570421..8129470 [GRCh38]
ChrX:6488462..8097511 [GRCh37]
ChrX:6498462..8057511 [NCBI36]
ChrX:Xp22.31
benign|likely benign|conflicting data from submitters
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8129470)x3 copy number gain See cases [RCV000136091] ChrX:10701..8129470 [GRCh38]
ChrX:60701..8097511 [GRCh37]
ChrX:701..8057511 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31(chrX:6534640-8129470)x2 copy number gain See cases [RCV000136059] ChrX:6534640..8129470 [GRCh38]
ChrX:6452681..8097511 [GRCh37]
ChrX:6462681..8057511 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6534640-8129470)x3 copy number gain See cases [RCV000136061] ChrX:6534640..8129470 [GRCh38]
ChrX:6452681..8097511 [GRCh37]
ChrX:6462681..8057511 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:7711067-7992077)x3 copy number gain See cases [RCV000136974] ChrX:7711067..7992077 [GRCh38]
ChrX:7679108..7960118 [GRCh37]
ChrX:7639108..7920118 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:20140-9459643)x0 copy number loss See cases [RCV000136885] ChrX:20140..9459643 [GRCh38]
ChrX:70140..9427683 [GRCh37]
ChrX:10140..9387683 [NCBI36]
ChrX:Xp22.33-22.31
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-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 Xp22.31(chrX:6633114-8064079)x0 copy number loss See cases [RCV000136755] ChrX:6633114..8064079 [GRCh38]
ChrX:6551155..8032120 [GRCh37]
ChrX:6561155..7992120 [NCBI36]
ChrX:Xp22.31
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 Xp22.31(chrX:6536171-8147112)x1 copy number loss See cases [RCV000137692] ChrX:6536171..8147112 [GRCh38]
ChrX:6454212..8115153 [GRCh37]
ChrX:6464212..8075153 [NCBI36]
ChrX:Xp22.31
likely benign
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:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.31(chrX:7573548-7860183)x2 copy number gain See cases [RCV000137189] ChrX:7573548..7860183 [GRCh38]
ChrX:7491589..7828224 [GRCh37]
ChrX:7501589..7788224 [NCBI36]
ChrX:Xp22.31
benign
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 Xp22.31(chrX:6787227-7971228)x0 copy number loss See cases [RCV000138056] ChrX:6787227..7971228 [GRCh38]
ChrX:6705268..7939269 [GRCh37]
ChrX:6715268..7899269 [NCBI36]
ChrX:Xp22.31
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(chrX:6652896-8110114)x1 copy number loss See cases [RCV000138094] ChrX:6652896..8110114 [GRCh38]
ChrX:6570937..8078155 [GRCh37]
ChrX:6580937..8038155 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:6534648-8147112)x1 copy number loss See cases [RCV000137987] ChrX:6534648..8147112 [GRCh38]
ChrX:6452689..8115153 [GRCh37]
ChrX:6462689..8075153 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:6534648-8147112)x0 copy number loss See cases [RCV000137988] ChrX:6534648..8147112 [GRCh38]
ChrX:6452689..8115153 [GRCh37]
ChrX:6462689..8075153 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8147112)x1 copy number loss See cases [RCV000137882] ChrX:10701..8147112 [GRCh38]
ChrX:60701..8115153 [GRCh37]
ChrX:701..8075153 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8568401)x0 copy number loss See cases [RCV000137883] ChrX:10701..8568401 [GRCh38]
ChrX:60701..8536442 [GRCh37]
ChrX:701..8496442 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.33-22.2(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 Xp22.31(chrX:6534654-8129470)x2 copy number gain See cases [RCV000138464] ChrX:6534654..8129470 [GRCh38]
ChrX:6452695..8097511 [GRCh37]
ChrX:6462695..8057511 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6534654-8129470)x0 copy number loss See cases [RCV000138465] ChrX:6534654..8129470 [GRCh38]
ChrX:6452695..8097511 [GRCh37]
ChrX:6462695..8057511 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6837101-7899318)x0 copy number loss See cases [RCV000138374] ChrX:6837101..7899318 [GRCh38]
ChrX:6755142..7867359 [GRCh37]
ChrX:6765142..7827359 [NCBI36]
ChrX:Xp22.31
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 Xp22.31(chrX:7059443-7917114)x1 copy number loss See cases [RCV000138897] ChrX:7059443..7917114 [GRCh38]
ChrX:6977484..7885155 [GRCh37]
ChrX:6987484..7845155 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:6535008-8129470)x3 copy number gain See cases [RCV000139161] ChrX:6535008..8129470 [GRCh38]
ChrX:6453049..8097511 [GRCh37]
ChrX:6463049..8057511 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6532387-8147053)x3 copy number gain See cases [RCV000140411] ChrX:6532387..8147053 [GRCh38]
ChrX:6450428..8115094 [GRCh37]
ChrX:6460428..8075094 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31(chrX:7642683-8129411)x2 copy number gain See cases [RCV000140546] ChrX:7642683..8129411 [GRCh38]
ChrX:7560724..8097452 [GRCh37]
ChrX:7570724..8057452 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:6531647-8147053)x2 copy number gain See cases [RCV000140231] ChrX:6531647..8147053 [GRCh38]
ChrX:6449688..8115094 [GRCh37]
ChrX:6459688..8075094 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6531647-8147053)x3 copy number gain See cases [RCV000140233] ChrX:6531647..8147053 [GRCh38]
ChrX:6449688..8115094 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:6536171-8147053)x2 copy number gain See cases [RCV000140474] ChrX:6536171..8147053 [GRCh38]
ChrX:6454212..8115094 [GRCh37]
ChrX:6464212..8075094 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6536171-8147053)x1 copy number loss See cases [RCV000140475] ChrX:6536171..8147053 [GRCh38]
ChrX:6454212..8115094 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:7614505-8147053)x2 copy number gain See cases [RCV000140496] ChrX:7614505..8147053 [GRCh38]
ChrX:7532546..8115094 [GRCh37]
ChrX:7542546..8075094 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:7710844-8129470)x3 copy number gain See cases [RCV000139530] ChrX:7710844..8129470 [GRCh38]
ChrX:7678885..8097511 [GRCh37]
ChrX:7638885..8057511 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:6534654-8529736)x3 copy number gain See cases [RCV000139606] ChrX:6534654..8529736 [GRCh38]
ChrX:6452695..8497777 [GRCh37]
ChrX:6462695..8457777 [NCBI36]
ChrX:Xp22.31
benign
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:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-22.2(chrX:251879-9798930)x1 copy number loss See cases [RCV000141931] ChrX:251879..9798930 [GRCh38]
ChrX:168546..9766970 [GRCh37]
ChrX:108546..9726970 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.31(chrX:6652896-8129470)x3 copy number gain See cases [RCV000141608] ChrX:6652896..8129470 [GRCh38]
ChrX:6570937..8097511 [GRCh37]
ChrX:6580937..8057511 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:6537110-8167603)x1 copy number loss See cases [RCV000142228] ChrX:6537110..8167603 [GRCh38]
ChrX:6455151..8135644 [GRCh37]
ChrX:6465151..8095644 [NCBI36]
ChrX:Xp22.31
likely benign
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-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 Xp22.31(chrX:6536327-8147112)x0 copy number loss See cases [RCV000143026] ChrX:6536327..8147112 [GRCh38]
ChrX:6454368..8115153 [GRCh37]
ChrX:6464368..8075153 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8423970)x1 copy number loss See cases [RCV000143070] ChrX:10701..8423970 [GRCh38]
ChrX:60701..8392011 [GRCh37]
ChrX:701..8352011 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6531711-8099101)x0 copy number loss See cases [RCV000143097] ChrX:6531711..8099101 [GRCh38]
ChrX:6449752..8067142 [GRCh37]
ChrX:6459752..8027142 [NCBI36]
ChrX:Xp22.31
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 Xp22.31(chrX:6536171-8147112)x0 copy number loss See cases [RCV000142790] ChrX:6536171..8147112 [GRCh38]
ChrX:6454212..8115153 [GRCh37]
ChrX:6464212..8075153 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6889694-7860183)x0 copy number loss See cases [RCV000142729] ChrX:6889694..7860183 [GRCh38]
ChrX:6807735..7828224 [GRCh37]
ChrX:6817735..7788224 [NCBI36]
ChrX:Xp22.31
pathogenic|uncertain significance
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 Xp22.31(chrX:7020870-7930853)x1 copy number loss See cases [RCV000143235] ChrX:7020870..7930853 [GRCh38]
ChrX:6938911..7898894 [GRCh37]
ChrX:6948911..7858894 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:6535272-8147112)x1 copy number loss See cases [RCV000143171] ChrX:6535272..8147112 [GRCh38]
ChrX:6453313..8115153 [GRCh37]
ChrX:6463313..8075153 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:6537108-8167603)x1 copy number loss See cases [RCV000143760] ChrX:6537108..8167603 [GRCh38]
ChrX:6455149..8135644 [GRCh37]
ChrX:6465149..8095644 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.33-22.31(chrX:1539767-9473964)x0 copy number loss See cases [RCV000143697] ChrX:1539767..9473964 [GRCh38]
ChrX:1658660..9442004 [GRCh37]
ChrX:1618660..9402004 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:7842674-8627284)x3 copy number gain See cases [RCV000143622] ChrX:7842674..8627284 [GRCh38]
ChrX:7810715..8595325 [GRCh37]
ChrX:7770715..8555325 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:6922830-8167603)x1 copy number loss See cases [RCV000143570] ChrX:6922830..8167603 [GRCh38]
ChrX:6840871..8135644 [GRCh37]
ChrX:6850871..8095644 [NCBI36]
ChrX:Xp22.31
likely benign
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
GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x0 copy number loss See cases [RCV000148137] ChrX:6570680..8129470 [GRCh38]
ChrX:6488721..8097511 [GRCh37]
ChrX:6498721..8057511 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x1 copy number loss See cases [RCV000148177] ChrX:6570680..8129470 [GRCh38]
ChrX:6488721..8097511 [GRCh37]
ChrX:6498721..8057511 [NCBI36]
ChrX:Xp22.31
pathogenic
NC_000023.11:g.(6499768_6517018)_(8187691_8193324)del deletion X-linked ichthyosis with steryl-sulfatase deficiency [RCV000191013] ChrX:6517018..8187691 [GRCh38]
ChrX:Xp22.31
pathogenic
NC_000023.11:g.(6560264_6560764)_(8187691_8193324)del deletion X-linked ichthyosis with steryl-sulfatase deficiency [RCV000191014] ChrX:6560764..8187691 [GRCh38]
ChrX:Xp22.31
pathogenic
NC_000023.11:g.(6674278_6675309)_(7911900_7922037)del deletion X-linked ichthyosis with steryl-sulfatase deficiency [RCV000191015] ChrX:6675309..7911900 [GRCh38]
ChrX:Xp22.31
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:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
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
GRCh37/hg19 Xp22.31(chrX:6456036-8139238)x0 copy number loss See cases [RCV000240187] ChrX:6456036..8139238 [GRCh37]
ChrX:Xp22.31
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 Xp22.31(chrX:7449660-8150511)x2 copy number gain See cases [RCV000203430] ChrX:7449660..8150511 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6477550-8119329)x2 copy number gain See cases [RCV000203437] ChrX:6477550..8119329 [GRCh37]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.31(chrX:7196322-7810731)x2 copy number gain See cases [RCV000449044] ChrX:7196322..7810731 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6516735-8135053)x3 copy number gain Premature ovarian failure [RCV000225328] ChrX:6516735..8135053 [GRCh37]
ChrX:Xp22.31
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
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31(chrX:7810799-8431008)x3 copy number gain See cases [RCV000511312] ChrX:7810799..8431008 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh37/hg19 Xp22.31(chrX:6449233-8135644)x1 copy number loss See cases [RCV000511313] ChrX:6449233..8135644 [GRCh37]
ChrX:Xp22.31
likely benign
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 Xp22.31(chrX:6639808-7896607)x0 copy number loss See cases [RCV000239894] ChrX:6639808..7896607 [GRCh37]
ChrX:Xp22.31
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: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 Xp22.33-22.2(chrX:71267-12032064)x1 copy number loss See cases [RCV000240338] ChrX:71267..12032064 [GRCh37]
ChrX:Xp22.33-22.2
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 Xp22.31(chrX:6497085-7910475) copy number loss Ichthyosis (disease) [RCV000415106] ChrX:6497085..7910475 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31(chrX:6512892-7936824)x0 copy number loss See cases [RCV000449452] ChrX:6512892..7936824 [GRCh37]
ChrX:Xp22.31
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:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31(chrX:6448751-8135644)x3 copy number gain See cases [RCV000446844] ChrX:6448751..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31(chrX:6453036-8139186)x3 copy number gain See cases [RCV000446884] ChrX:6453036..8139186 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31(chrX:6456036-8131751)x1 copy number loss See cases [RCV000447210] ChrX:6456036..8131751 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:70297-8654089)x0 copy number loss See cases [RCV000446121] ChrX:70297..8654089 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6453036-8151615)x2 copy number gain See cases [RCV000447585] ChrX:6453036..8151615 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh37/hg19 Xp22.31(chrX:6455151-8135644)x1 copy number loss See cases [RCV000447621] ChrX:6455151..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6453036-8151615)x3 copy number gain See cases [RCV000446183] ChrX:6453036..8151615 [GRCh37]
ChrX:Xp22.31
likely benign
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 Xp22.31(chrX:6455361-8135644)x3 copy number gain See cases [RCV000447649] ChrX:6455361..8135644 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31(chrX:6449752-8135644)x0 copy number loss See cases [RCV000445887] ChrX:6449752..8135644 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6458939-8135644)x0 copy number loss See cases [RCV000445683] ChrX:6458939..8135644 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6449836-8135644)x2 copy number gain See cases [RCV000445690] ChrX:6449836..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6455150-8135644)x2 copy number gain See cases [RCV000445820] ChrX:6455150..8135644 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh37/hg19 Xp22.31(chrX:7533820-8151615)x2 copy number gain See cases [RCV000447850] ChrX:7533820..8151615 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:6449752-8135644)x3 copy number gain See cases [RCV000448249] ChrX:6449752..8135644 [GRCh37]
ChrX:Xp22.31
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 Xp22.33-22.31(chrX:3711398-9389098)x0 copy number loss See cases [RCV000447912] ChrX:3711398..9389098 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6456036-8131751)x0 copy number loss See cases [RCV000448943] ChrX:6456036..8131751 [GRCh37]
ChrX:Xp22.31
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:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.11:g.(?_6535136)_(8151196_?)dup duplication Schizophrenia [RCV000416632] ChrX:6535136..8151196 [GRCh38]
ChrX:6463177..8079237 [NCBI36]
ChrX:Xp22.31
likely 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 Xp22.31(chrX:6453036-8131751)x3 copy number gain See cases [RCV000447725] ChrX:6453036..8131751 [GRCh37]
ChrX:Xp22.31
likely benign
NC_000023.11:g.(?_6528271)_(8167329_?)del deletion Schizophrenia [RCV000416717] ChrX:6528271..8167329 [GRCh38]
ChrX:6456312..8095370 [NCBI36]
ChrX:Xp22.31
likely pathogenic
NC_000023.11:g.(?_6538718)_(8151196_?)del deletion Schizophrenia [RCV000416751] ChrX:6538718..8151196 [GRCh38]
ChrX:6466759..8079237 [NCBI36]
ChrX:Xp22.31
likely pathogenic
NC_000023.11:g.(?_6780568)_(7922451_?)del deletion Schizophrenia [RCV000416771] ChrX:6780568..7922451 [GRCh38]
ChrX:6708609..7850492 [NCBI36]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.31(chrX:6722953-8135053)x0 copy number loss See cases [RCV000448655] ChrX:6722953..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
NC_000023.11:g.(?_6528271)_(8151196_?)dup duplication Schizophrenia [RCV000416821] ChrX:6528271..8151196 [GRCh38]
ChrX:6456312..8079237 [NCBI36]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.31(chrX:7187971-8327789)x2 copy number gain See cases [RCV000448205] ChrX:7187971..8327789 [GRCh37]
ChrX:Xp22.31
uncertain significance
NC_000023.11:g.(?_6538718)_(8151196_?)dup duplication Schizophrenia [RCV000416896] ChrX:6538718..8151196 [GRCh38]
ChrX:6466759..8079237 [NCBI36]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31(chrX:6430651-8034993)x1 copy number loss See cases [RCV000515581] ChrX:6430651..8034993 [GRCh37]
ChrX:Xp22.31
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 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
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-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31(chrX:6449752-8135644)x0 copy number loss See cases [RCV000510141] ChrX:6449752..8135644 [GRCh37]
ChrX:Xp22.31
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-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:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 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
GRCh37/hg19 Xp22.31(chrX:6523326-8127576)x0 copy number loss See cases [RCV000511516] ChrX:6523326..8127576 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6458939-8135644)x0 copy number loss See cases [RCV000511696] ChrX:6458939..8135644 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6458939-8135053)x0 copy number loss See cases [RCV000511045] ChrX:6458939..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-9868031)x0 copy number loss See cases [RCV000510906] ChrX:168546..9868031 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.31(chrX:6458939-8135644)x1 copy number loss See cases [RCV000510851] ChrX:6458939..8135644 [GRCh37]
ChrX:Xp22.31
likely benign
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
GRCh37/hg19 Xp22.31(chrX:6488721-8097511) copy number loss Autistic disorder of childhood onset [RCV000626552] ChrX:6488721..8097511 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:7591725-8319239)x2 copy number gain See cases [RCV000512200] ChrX:7591725..8319239 [GRCh37]
ChrX:Xp22.31
uncertain significance
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
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
Single allele duplication not provided [RCV000678030] ChrX:6453036..8139238 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:2051958-8135053)x1 copy number loss not provided [RCV000684231] ChrX:2051958..8135053 [GRCh37]
ChrX:Xp22.33-22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6429319-8135644)x3 copy number gain not provided [RCV000684242] ChrX:6429319..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6448751-8135644)x3 copy number gain not provided [RCV000684243] ChrX:6448751..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6448751-8135644)x1 copy number loss not provided [RCV000684244] ChrX:6448751..8135644 [GRCh37]
ChrX:Xp22.31
pathogenic|uncertain significance
GRCh37/hg19 Xp22.31(chrX:6500765-8135644)x3 copy number gain not provided [RCV000684248] ChrX:6500765..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6542443-7951092)x0 copy number loss not provided [RCV000684249] ChrX:6542443..7951092 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6577106-8041392)x0 copy number loss not provided [RCV000684250] ChrX:6577106..8041392 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6449233-8135644)x2 copy number gain not provided [RCV000684245] ChrX:6449233..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6449236-8135644)x0 copy number loss not provided [RCV000684246] ChrX:6449236..8135644 [GRCh37]
ChrX:Xp22.31
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 Xp22.31(chrX:6598868-7966755)x1 copy number loss not provided [RCV000684251] ChrX:6598868..7966755 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6709092-8135053)x0 copy number loss not provided [RCV000684254] ChrX:6709092..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:7200568-8003899)x3 copy number gain not provided [RCV000684260] ChrX:7200568..8003899 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:6455151-8128200)x3 copy number gain not provided [RCV000684247] ChrX:6455151..8128200 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6631977-8135644)x3 copy number gain not provided [RCV000684253] ChrX:6631977..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31(chrX:6442425-8135239)x3 copy number gain not provided [RCV000753330] ChrX:6442425..8135239 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6446825-8144888)x3 copy number gain not provided [RCV000753332] ChrX:6446825..8144888 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6451799-8135053)x0 copy number loss not provided [RCV000753335] ChrX:6451799..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6454813-8135053)x2 copy number gain not provided [RCV000753340] ChrX:6454813..8135053 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6454813-8135239)x2 copy number gain not provided [RCV000753341] ChrX:6454813..8135239 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x3 copy number gain not provided [RCV000753345] ChrX:6456940..8135053 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0 copy number loss not provided [RCV000753346] ChrX:6456940..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:7385720-8192224)x2 copy number gain not provided [RCV000753356] ChrX:7385720..8192224 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:7517051-8135239)x3 copy number gain not provided [RCV000753357] ChrX:7517051..8135239 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:7537276-8135053)x2 copy number gain not provided [RCV000753358] ChrX:7537276..8135053 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh37/hg19 Xp22.31(chrX:7606974-8144888)x3 copy number gain not provided [RCV000753359] ChrX:7606974..8144888 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:6449601-8135053)x1 copy number loss not provided [RCV000753334] ChrX:6449601..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6454813-8139581)x2 copy number gain not provided [RCV000753342] ChrX:6454813..8139581 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:7236970-7828792)x3 copy number gain not provided [RCV000753353] ChrX:7236970..7828792 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh37/hg19 Xp22.33-22.2(chrX:2700157-9866420)x3 copy number gain not provided [RCV000753312] ChrX:2700157..9866420 [GRCh37]
ChrX:Xp22.33-22.2
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:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
NC_000023.11:g.(?_6526750)_(8172018_?)del deletion Schizophrenia [RCV000754375] ChrX:6526750..8172018 [GRCh38]
ChrX:Xp22.31
likely pathogenic
NC_000023.11:g.(?_6536927)_(8156323_?)del deletion Schizophrenia [RCV000754376] ChrX:6536927..8156323 [GRCh38]
ChrX:Xp22.31
likely pathogenic
NC_000023.11:g.(?_6776477)_(7923774_?)del deletion Schizophrenia [RCV000754377] ChrX:6776477..7923774 [GRCh38]
ChrX:Xp22.31
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
Single allele duplication Primary amenorrhea [RCV000754479] ChrX:6456036..8133172 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:1-9298403) copy number loss not provided [RCV000767649] ChrX:1..9298403 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
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
GRCh37/hg19 Xp22.31(chrX:6784328-8071202)x0 copy number loss not provided [RCV001007246] ChrX:6784328..8071202 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6451799-8141017)x1 copy number loss See cases [RCV000790571] ChrX:6451799..8141017 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6596639-8135053)x3 copy number gain See cases [RCV000790594] ChrX:6596639..8135053 [GRCh37]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.31(chrX:6497085-7910475) copy number loss X-linked ichthyosis with steryl-sulfatase deficiency [RCV000767691] ChrX:6497085..7910475 [GRCh37]
ChrX:Xp22.31
pathogenic
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 Xp22.31(chrX:6497085-8135053) copy number loss X-linked ichthyosis with steryl-sulfatase deficiency [RCV000767690] ChrX:6497085..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31(chrX:6896604-7887498)x1 copy number loss not provided [RCV001007247] ChrX:6896604..7887498 [GRCh37]
ChrX:Xp22.31
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
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
GRCh37/hg19 Xp22.31(chrX:6455149-8135645)x1 copy number loss not provided [RCV000846707] ChrX:6455149..8135645 [GRCh37]
ChrX:Xp22.31
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
GRCh37/hg19 Xp22.31(chrX:7810730-8431008)x1 copy number loss not provided [RCV000847742] ChrX:7810730..8431008 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6449752-8135645)x2 copy number gain not provided [RCV000846381] ChrX:6449752..8135645 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6449836-8135645)x1 copy number loss not provided [RCV000846489] ChrX:6449836..8135645 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:169790-8465951)x1 copy number loss not provided [RCV000848066] ChrX:169790..8465951 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-8503210)x1 copy number loss not provided [RCV001007202] ChrX:168546..8503210 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6458166-8135053)x2 copy number gain See cases [RCV001194571] ChrX:6458166..8135053 [GRCh37]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.31(chrX:6476350-8135053)x3 copy number gain See cases [RCV001194572] ChrX:6476350..8135053 [GRCh37]
ChrX:Xp22.31
likely 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
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
GRCh37/hg19 Xp22.31(chrX:7056909-8005133)x3 copy number gain Intellectual disability [RCV001250261] ChrX:7056909..8005133 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:6449836-8135645)x1 copy number loss not provided [RCV000846723] ChrX:6449836..8135645 [GRCh37]
ChrX:Xp22.31
pathogenic
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
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0 copy number loss See cases [RCV001007444] ChrX:6456940..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:7555799-8135053)x3 copy number gain See cases [RCV001194527] ChrX:7555799..8135053 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6450700-8138035)x2 copy number gain See cases [RCV001194517] ChrX:6450700..8138035 [GRCh37]
ChrX:Xp22.31
likely pathogenic
Single allele deletion Dystonia [RCV001004040] ChrX:6453783..8133115 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:1-7810731)x2 copy number gain not provided [RCV001007197] ChrX:1..7810731 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6453324-8136507)x0 copy number loss See cases [RCV001263030] ChrX:6453324..8136507 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
COSMIC VCX COSMIC
Ensembl Genes ENSG00000182583 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000344144 UniProtKB/TrEMBL
  ENSP00000370447 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000484419 UniProtKB/TrEMBL
Ensembl Transcript ENST00000341408 UniProtKB/TrEMBL
  ENST00000381059 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000620630 UniProtKB/TrEMBL
GTEx ENSG00000182583 GTEx
HGNC ID HGNC:12667 ENTREZGENE
Human Proteome Map VCX Human Proteome Map
InterPro VCX/VCY1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26609 UniProtKB/Swiss-Prot
NCBI Gene 26609 ENTREZGENE
OMIM 300229 OMIM
Pfam VCX_VCY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37290 PharmGKB
UniProt A0A087X1S4_HUMAN UniProtKB/TrEMBL
  J3KNW2_HUMAN UniProtKB/TrEMBL
  Q9H320 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0JNS5 UniProtKB/Swiss-Prot
  Q4V774 UniProtKB/Swiss-Prot
  Q9P0H3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 VCX  variable charge X-linked    variable charge, X-linked  Symbol and/or name change 5135510 APPROVED
2011-09-01 VCX  variable charge, X-linked  VCX  variable charge, X-linked  Symbol and/or name change 5135510 APPROVED