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GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081) AND not specified

Germline classification:
Pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003986197.1

Allele description [Variation Report for GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)]

GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)

Genes:
  • ARL13A:ADP ribosylation factor like GTPase 13A [Gene - HGNC]
  • ABCB7:ATP binding cassette subfamily B member 7 [Gene - OMIM - HGNC]
  • ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]
  • ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]
  • BTK:Bruton tyrosine kinase [Gene - OMIM - HGNC]
  • CXCR3:C-X-C motif chemokine receptor 3 [Gene - OMIM - HGNC]
  • CHM:CHM Rab escort protein [Gene - OMIM - HGNC]
  • CPXCR1:CPX chromosome region candidate 1 [Gene - OMIM - HGNC]
  • CITED1:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 [Gene - OMIM - HGNC]
  • DMRTC1:DMRT like family C1 [Gene - OMIM - HGNC]
  • DMRTC1B:DMRT like family C1B [Gene - HGNC]
  • ERCC6L:ERCC excision repair 6 like, spindle assembly checkpoint helicase [Gene - OMIM - HGNC]
  • FTX:FTX transcript, XIST regulator [Gene - OMIM - HGNC]
  • GPR174:G protein-coupled receptor 174 [Gene - OMIM - HGNC]
  • JPX:JPX transcript, XIST activator [Gene - OMIM - HGNC]
  • MAGEE1:MAGE family member E1 [Gene - OMIM - HGNC]
  • MAGEE2:MAGE family member E2 [Gene - OMIM - HGNC]
  • NOX1:NADPH oxidase 1 [Gene - OMIM - HGNC]
  • NALF2:NALCN channel auxiliary factor 2 [Gene - HGNC]
  • NHSL2:NHS like 2 [Gene - OMIM - HGNC]
  • OGT:O-linked N-acetylglucosamine (GlcNAc) transferase [Gene - OMIM - HGNC]
  • OTUD6A:OTU deubiquitinase 6A [Gene - OMIM - HGNC]
  • P2RY10:P2Y receptor family member 10 [Gene - OMIM - HGNC]
  • PDZD11:PDZ domain containing 11 [Gene - OMIM - HGNC]
  • POF1B:POF1B actin binding protein [Gene - OMIM - HGNC]
  • POU3F4:POU class 3 homeobox 4 [Gene - OMIM - HGNC]
  • RAB41:RAB41, member RAS oncogene family [Gene - HGNC]
  • RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
  • SH3BGRL:SH3 domain binding glutamate rich protein like [Gene - OMIM - HGNC]
  • TBX22:T-box transcription factor 22 [Gene - OMIM - HGNC]
  • TAF1:TATA-box binding protein associated factor 1 [Gene - OMIM - HGNC]
  • TAF7L:TATA-box binding protein associated factor 7 like [Gene - OMIM - HGNC]
  • TAF9B:TATA-box binding protein associated factor 9b [Gene - OMIM - HGNC]
  • TGIF2LX:TGFB induced factor homeobox 2 like X-linked [Gene - OMIM - HGNC]
  • TSIX:TSIX transcript, XIST antisense RNA [Gene - OMIM - HGNC]
  • XIST:X inactive specific transcript [Gene - OMIM - HGNC]
  • XKRX:XK related X-linked [Gene - OMIM - HGNC]
  • AWAT1:acyl-CoA wax alcohol acyltransferase 1 [Gene - OMIM - HGNC]
  • AWAT2:acyl-CoA wax alcohol acyltransferase 2 [Gene - OMIM - HGNC]
  • APOOL:apolipoprotein O like [Gene - OMIM - HGNC]
  • ARMCX1:armadillo repeat containing X-linked 1 [Gene - OMIM - HGNC]
  • ARMCX4:armadillo repeat containing X-linked 4 [Gene - OMIM - HGNC]
  • ARR3:arrestin 3 [Gene - OMIM - HGNC]
  • BRWD3:bromodomain and WD repeat domain containing 3 [Gene - OMIM - HGNC]
  • CDX4:caudal type homeobox 4 [Gene - OMIM - HGNC]
  • CENPI:centromere protein I [Gene - OMIM - HGNC]
  • CXorf49:chromosome X open reading frame 49 [Gene - HGNC]
  • CXorf49B:chromosome X open reading frame 49B [Gene - HGNC]
  • CXorf65:chromosome X open reading frame 65 [Gene - HGNC]
  • CSTF2:cleavage stimulation factor subunit 2 [Gene - OMIM - HGNC]
  • CYLC1:cylicin 1 [Gene - OMIM - HGNC]
  • CHIC1:cysteine rich hydrophobic domain 1 [Gene - OMIM - HGNC]
  • CYSLTR1:cysteinyl leukotriene receptor 1 [Gene - OMIM - HGNC]
  • COX7B:cytochrome c oxidase subunit 7B [Gene - OMIM - HGNC]
  • DACH2:dachshund family transcription factor 2 [Gene - OMIM - HGNC]
  • DGAT2L6:diacylglycerol O-acyltransferase 2 like 6 [Gene - OMIM - HGNC]
  • DIAPH2:diaphanous related formin 2 [Gene - OMIM - HGNC]
  • DLG3:discs large MAGUK scaffold protein 3 [Gene - OMIM - HGNC]
  • DRP2:dystrophin related protein 2 [Gene - OMIM - HGNC]
  • EDA:ectodysplasin A [Gene - OMIM - HGNC]
  • EFNB1:ephrin B1 [Gene - OMIM - HGNC]
  • FAM133A:family with sequence similarity 133 member A [Gene - HGNC]
  • FGF16:fibroblast growth factor 16 [Gene - OMIM - HGNC]
  • FOXO4:forkhead box O4 [Gene - OMIM - HGNC]
  • GLA:galactosidase alpha [Gene - OMIM - HGNC]
  • GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
  • GCNA:germ cell nuclear acidic peptidase [Gene - OMIM - HGNC]
  • GDPD2:glycerophosphodiester phosphodiesterase domain containing 2 [Gene - OMIM - HGNC]
  • HNRNPH2:heterogeneous nuclear ribonucleoprotein H2 [Gene - OMIM - HGNC]
  • HMGN5:high mobility group nucleosome binding domain 5 [Gene - OMIM - HGNC]
  • HDX:highly divergent homeobox [Gene - OMIM - HGNC]
  • HDAC8:histone deacetylase 8 [Gene - OMIM - HGNC]
  • IGBP1:immunoglobulin binding protein 1 [Gene - OMIM - HGNC]
  • ITM2A:integral membrane protein 2A [Gene - OMIM - HGNC]
  • ITGB1BP2:integrin subunit beta 1 binding protein 2 [Gene - OMIM - HGNC]
  • IL2RG:interleukin 2 receptor subunit gamma [Gene - OMIM - HGNC]
  • KLHL4:kelch like family member 4 [Gene - OMIM - HGNC]
  • KIF4A:kinesin family member 4A [Gene - OMIM - HGNC]
  • LPAR4:lysophosphatidic acid receptor 4 [Gene - OMIM - HGNC]
  • MAGT1:magnesium transporter 1 [Gene - OMIM - HGNC]
  • MED12:mediator complex subunit 12 [Gene - OMIM - HGNC]
  • NEXMIF:neurite extension and migration factor [Gene - OMIM - HGNC]
  • NLGN3:neuroligin 3 [Gene - OMIM - HGNC]
  • NONO:non-POU domain containing octamer binding [Gene - OMIM - HGNC]
  • NAP1L2:nucleosome assembly protein 1 like 2 [Gene - OMIM - HGNC]
  • NAP1L3:nucleosome assembly protein 1 like 3 [Gene - OMIM - HGNC]
  • PIN4:peptidylprolyl cis/trans isomerase, NIMA-interacting 4 [Gene - OMIM - HGNC]
  • PGK1:phosphoglycerate kinase 1 [Gene - OMIM - HGNC]
  • PGAM4:phosphoglycerate mutase family member 4 [Gene - OMIM - HGNC]
  • PHKA1:phosphorylase kinase regulatory subunit alpha 1 [Gene - OMIM - HGNC]
  • PABPC1L2A:poly(A) binding protein cytoplasmic 1 like 2A [Gene - HGNC]
  • PABPC1L2B:poly(A) binding protein cytoplasmic 1 like 2B [Gene - HGNC]
  • PABPC5:poly(A) binding protein cytoplasmic 5 [Gene - OMIM - HGNC]
  • PBDC1:polysaccharide biosynthesis domain containing 1 [Gene - HGNC]
  • PJA1:praja ring finger ubiquitin ligase 1 [Gene - OMIM - HGNC]
  • PCDH11X:protocadherin 11 X-linked [Gene - OMIM - HGNC]
  • PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
  • P2RY4:pyrimidinergic receptor P2Y4 [Gene - OMIM - HGNC]
  • RPA4:replication protein A4 [Gene - OMIM - HGNC]
  • RTL3:retrotransposon Gag like 3 [Gene - HGNC]
  • RTL5:retrotransposon Gag like 5 [Gene - HGNC]
  • RPL36A:ribosomal protein L36a [Gene - OMIM - HGNC]
  • RPS4X:ribosomal protein S4 X-linked [Gene - OMIM - HGNC]
  • RPS6KA6:ribosomal protein S6 kinase A6 [Gene - OMIM - HGNC]
  • RLIM:ring finger protein, LIM domain interacting [Gene - OMIM - HGNC]
  • SLC16A2:solute carrier family 16 member 2 [Gene - OMIM - HGNC]
  • SLC7A3:solute carrier family 7 member 3 [Gene - OMIM - HGNC]
  • SNX12:sorting nexin 12 [Gene - OMIM - HGNC]
  • SATL1:spermidine/spermine N1-acetyl transferase like 1 [Gene - HGNC]
  • SRPX2:sushi repeat containing protein X-linked 2 [Gene - OMIM - HGNC]
  • SYTL4:synaptotagmin like 4 [Gene - OMIM - HGNC]
  • TRMT2B:tRNA methyltransferase 2 homolog B [Gene - HGNC]
  • TNMD:tenomodulin [Gene - OMIM - HGNC]
  • TENT5D:terminal nucleotidyltransferase 5D [Gene - OMIM - HGNC]
  • TEX11:testis expressed 11 [Gene - OMIM - HGNC]
  • TSPAN6:tetraspanin 6 [Gene - OMIM - HGNC]
  • TIMM8A:translocase of inner mitochondrial membrane 8A [Gene - OMIM - HGNC]
  • TMEM35A:transmembrane protein 35A [Gene - HGNC]
  • UPRT:uracil phosphoribosyltransferase homolog [Gene - OMIM - HGNC]
  • ZCCHC13:zinc finger CCHC-type containing 13 [Gene - HGNC]
  • ZDHHC15:zinc finger DHHC-type palmitoyltransferase 15 [Gene - OMIM - HGNC]
  • ZMYM3:zinc finger MYM-type containing 3 [Gene - OMIM - HGNC]
  • ZNF711:zinc finger protein 711 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xq13.1-22.1
Genomic location:
ChrX: 68040342 - 100863081 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004802326ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
criteria provided, single submitter

(Constitutional Copy Number Variant Assertion Criteria)
Pathogenicgermlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV004802326.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 1, 2024