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GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 18, 2019
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:
RCV001194578.1

Allele description [Variation Report for GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3]

GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3

Genes:
  • BPNT1:3'(2'), 5'-bisphosphate nucleotidase 1 [Gene - OMIM - HGNC]
  • MTR:5-methyltetrahydrofolate-homocysteine methyltransferase [Gene - OMIM - HGNC]
  • ARF1:ADP ribosylation factor 1 [Gene - OMIM - HGNC]
  • AKT3:AKT serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • ARV1:ARV1 homolog, fatty acid homeostasis modulator [Gene - OMIM - HGNC]
  • AHCTF1:AT-hook containing transcription factor 1 [Gene - OMIM - HGNC]
  • ARID4B:AT-rich interaction domain 4B [Gene - OMIM - HGNC]
  • ABCB10:ATP binding cassette subfamily B member 10 [Gene - OMIM - HGNC]
  • BROX:BRO1 domain and CAAX motif containing [Gene - HGNC]
  • CDC42BPA:CDC42 binding protein kinase alpha [Gene - OMIM - HGNC]
  • CHML:CHM like Rab escort protein [Gene - OMIM - HGNC]
  • DISC1:DISC1 scaffold protein [Gene - OMIM - HGNC]
  • EDARADD:EDAR associated via death domain [Gene - OMIM - HGNC]
  • EFCAB2:EF-hand calcium binding domain 2 [Gene - OMIM - HGNC]
  • ENAH:ENAH actin regulator [Gene - OMIM - HGNC]
  • FBXO28:F-box protein 28 [Gene - OMIM - HGNC]
  • FLVCR1:FLVCR choline and heme transporter 1 [Gene - OMIM - HGNC]
  • FLVCR1-DT:FLVCR1 divergent transcript [Gene - OMIM - HGNC]
  • GNG4:G protein subunit gamma 4 [Gene - OMIM - HGNC]
  • GPR137B:G protein-coupled receptor 137B [Gene - OMIM - HGNC]
  • GPATCH2:G-patch domain containing 2 [Gene - OMIM - HGNC]
  • HLX:H2.0 like homeobox [Gene - OMIM - HGNC]
  • H2AC25:H2A clustered histone 25 [Gene - OMIM - HGNC]
  • H2BC26:H2B clustered histone 26 [Gene - OMIM - HGNC]
  • H3-3A:H3.3 histone A [Gene - OMIM - HGNC]
  • H3-4:H3.4 histone, cluster member [Gene - OMIM - HGNC]
  • HEATR1:HEAT repeat containing 1 [Gene - OMIM - HGNC]
  • HHIPL2:HHIP like 2 [Gene - OMIM - HGNC]
  • LYPD8:LY6/PLAUR domain containing 8 [Gene - OMIM - HGNC]
  • MIA3:MIA SH3 domain ER export factor 3 [Gene - OMIM - HGNC]
  • MIXL1:Mix paired-like homeobox [Gene - OMIM - HGNC]
  • NEK2:NIMA related kinase 2 [Gene - OMIM - HGNC]
  • NLRP3:NLR family pyrin domain containing 3 [Gene - OMIM - HGNC]
  • NSL1:NSL1 component of MIS12 kinetochore complex [Gene - OMIM - HGNC]
  • RAB3GAP2:RAB3 GTPase activating non-catalytic protein subunit 2 [Gene - OMIM - HGNC]
  • RAB4A:RAB4A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RD3:RD3 regulator of GUCY2D [Gene - OMIM - HGNC]
  • RCOR3:REST corepressor 3 [Gene - OMIM - HGNC]
  • RBM34:RNA binding motif protein 34 [Gene - OMIM - HGNC]
  • SPHAR:S-phase response (cyclin related) [Gene - HGNC]
  • SDE2:SDE2 telomere maintenance homolog [Gene - HGNC]
  • SERTAD4:SERTA domain containing 4 [Gene - HGNC]
  • SMYD2:SET and MYND domain containing 2 [Gene - OMIM - HGNC]
  • SMYD3:SET and MYND domain containing 3 [Gene - OMIM - HGNC]
  • SH3BP5L:SH3 binding domain protein 5 like [Gene - HGNC]
  • SDCCAG8:SHH signaling and ciliogenesis regulator SDCCAG8 [Gene - OMIM - HGNC]
  • SPRTN:SprT-like N-terminal domain [Gene - OMIM - HGNC]
  • TARBP1:TAR (HIV-1) RNA binding protein 1 [Gene - OMIM - HGNC]
  • TAF5L:TATA-box binding protein associated factor 5 like [Gene - HGNC]
  • TAF1A:TATA-box binding protein associated factor, RNA polymerase I subunit A [Gene - OMIM - HGNC]
  • TRAF5:TNF receptor associated factor 5 [Gene - OMIM - HGNC]
  • TATDN3:TatD DNase domain containing 3 [Gene - HGNC]
  • URB2:URB2 ribosome biogenesis homolog [Gene - OMIM - HGNC]
  • WDR26:WD repeat domain 26 [Gene - OMIM - HGNC]
  • WDR64:WD repeat domain 64 [Gene - HGNC]
  • WNT3A:Wnt family member 3A [Gene - OMIM - HGNC]
  • WNT9A:Wnt family member 9A [Gene - OMIM - HGNC]
  • ACTA1:actin alpha 1, skeletal muscle [Gene - OMIM - HGNC]
  • ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]
  • ATF3:activating transcription factor 3 [Gene - OMIM - HGNC]
  • ACBD3:acyl-CoA binding domain containing 3 [Gene - OMIM - HGNC]
  • ADSS2:adenylosuccinate synthase 2 [Gene - OMIM - HGNC]
  • ANGEL2:angel homolog 2 [Gene - OMIM - HGNC]
  • AGT:angiotensinogen [Gene - OMIM - HGNC]
  • AIDA:axin interactor, dorsalization associated [Gene - OMIM - HGNC]
  • BATF3:basic leucine zipper ATF-like transcription factor 3 [Gene - OMIM - HGNC]
  • B3GALNT2:beta-1,3-N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
  • BTNL10:butyrophilin like 10 [Gene - HGNC]
  • CAPN2:calpain 2 [Gene - OMIM - HGNC]
  • CAPN8:calpain 8 [Gene - OMIM - HGNC]
  • CAPN9:calpain 9 [Gene - OMIM - HGNC]
  • CATSPERE:catsper channel auxiliary subunit epsilon [Gene - OMIM - HGNC]
  • CCSAP:centriole, cilia and spindle associated protein [Gene - OMIM - HGNC]
  • CENPF:centromere protein F [Gene - OMIM - HGNC]
  • CEP170:centrosomal protein 170 [Gene - OMIM - HGNC]
  • CHRM3:cholinergic receptor muscarinic 3 [Gene - OMIM - HGNC]
  • C1orf115:chromosome 1 open reading frame 115 [Gene - HGNC]
  • C1orf131:chromosome 1 open reading frame 131 [Gene - HGNC]
  • C1orf198:chromosome 1 open reading frame 198 [Gene - HGNC]
  • C1orf35:chromosome 1 open reading frame 35 [Gene - HGNC]
  • COQ8A:coenzyme Q8A [Gene - OMIM - HGNC]
  • CCDC185:coiled-coil domain containing 185 [Gene - HGNC]
  • COG2:component of oligomeric golgi complex 2 [Gene - OMIM - HGNC]
  • CNST:consortin, connexin sorting protein [Gene - OMIM - HGNC]
  • CNIH3:cornichon family AMPA receptor auxiliary protein 3 [Gene - HGNC]
  • CNIH4:cornichon family AMPA receptor auxiliary protein 4 [Gene - OMIM - HGNC]
  • COA6:cytochrome c oxidase assembly factor 6 [Gene - OMIM - HGNC]
  • COX20:cytochrome c oxidase assembly factor COX20 [Gene - OMIM - HGNC]
  • DEGS1:delta 4-desaturase, sphingolipid 1 [Gene - OMIM - HGNC]
  • DTL:denticleless E3 ubiquitin protein ligase homolog [Gene - OMIM - HGNC]
  • DESI2:desumoylating isopeptidase 2 [Gene - OMIM - HGNC]
  • DISP1:dispatched RND transporter family member 1 [Gene - OMIM - HGNC]
  • DISC2:disrupted in schizophrenia 2 [Gene - OMIM - HGNC]
  • DUSP10:dual specificity phosphatase 10 [Gene - OMIM - HGNC]
  • DNAH14:dynein axonemal heavy chain 14 [Gene - OMIM - HGNC]
  • EGLN1:egl-9 family hypoxia inducible factor 1 [Gene - OMIM - HGNC]
  • ERO1B:endoplasmic reticulum oxidoreductase 1 beta [Gene - OMIM - HGNC]
  • EPHX1:epoxide hydrolase 1 [Gene - OMIM - HGNC]
  • ESRRG:estrogen related receptor gamma [Gene - OMIM - HGNC]
  • EXOC8:exocyst complex component 8 [Gene - OMIM - HGNC]
  • EXO1:exonuclease 1 [Gene - OMIM - HGNC]
  • FAM177B:family with sequence similarity 177 member B [Gene - HGNC]
  • FAM89A:family with sequence similarity 89 member A [Gene - HGNC]
  • FMN2:formin 2 [Gene - OMIM - HGNC]
  • FH:fumarate hydratase [Gene - OMIM - HGNC]
  • LGALS8:galectin 8 [Gene - OMIM - HGNC]
  • GJC2:gap junction protein gamma 2 [Gene - OMIM - HGNC]
  • GGPS1:geranylgeranyl diphosphate synthase 1 [Gene - OMIM - HGNC]
  • GCSAML:germinal center associated signaling and motility like [Gene - HGNC]
  • EPRS1:glutamyl-prolyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • GNPAT:glyceronephosphate O-acyltransferase [Gene - OMIM - HGNC]
  • GARIN4:golgi associated RAB2 interactor family member 4 [Gene - OMIM - HGNC]
  • GREM2:gremlin 2, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • GUK1:guanylate kinase 1 [Gene - OMIM - HGNC]
  • HHAT:hedgehog acyltransferase [Gene - OMIM - HGNC]
  • HNRNPU:heterogeneous nuclear ribonucleoprotein U [Gene - OMIM - HGNC]
  • ITPKB:inositol-trisphosphate 3-kinase B [Gene - OMIM - HGNC]
  • INTS7:integrator complex subunit 7 [Gene - OMIM - HGNC]
  • IRF2BP2:interferon regulatory factor 2 binding protein 2 [Gene - OMIM - HGNC]
  • IBA57:iron-sulfur cluster assembly factor IBA57 [Gene - OMIM - HGNC]
  • IARS2:isoleucyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • JMJD4:jumonji domain containing 4 [Gene - HGNC]
  • KIF26B:kinesin family member 26B [Gene - OMIM - HGNC]
  • KMO:kynurenine 3-monooxygenase [Gene - OMIM - HGNC]
  • LBR:lamin B receptor [Gene - OMIM - HGNC]
  • LEFTY1:left-right determination factor 1 [Gene - OMIM - HGNC]
  • LEFTY2:left-right determination factor 2 [Gene - OMIM - HGNC]
  • LIN9:lin-9 DREAM MuvB core complex component [Gene - OMIM - HGNC]
  • LNCATV:lncRNA negative regulator of antiviral signaling [Gene - HGNC]
  • LINC02897:long intergenic non-protein coding RNA 2897 [Gene - HGNC]
  • LINC00538:long intergenic non-protein coding RNA 538 [Gene - OMIM - HGNC]
  • LPGAT1:lysophosphatidylglycerol acyltransferase 1 [Gene - OMIM - HGNC]
  • LYPLAL1:lysophospholipase like 1 [Gene - OMIM - HGNC]
  • LYST:lysosomal trafficking regulator [Gene - OMIM - HGNC]
  • MT1HL1:metallothionein 1H like 1 [Gene - HGNC]
  • MIR194-1:microRNA 194-1 [Gene - OMIM - HGNC]
  • MIR215:microRNA 215 [Gene - OMIM - HGNC]
  • MARK1:microtubule affinity regulating kinase 1 [Gene - OMIM - HGNC]
  • MAP1LC3C:microtubule associated protein 1 light chain 3 gamma [Gene - OMIM - HGNC]
  • MAP10:microtubule associated protein 10 [Gene - OMIM - HGNC]
  • MTARC1:mitochondrial amidoxime reducing component 1 [Gene - OMIM - HGNC]
  • MTARC2:mitochondrial amidoxime reducing component 2 [Gene - OMIM - HGNC]
  • MRPL55:mitochondrial ribosomal protein L55 [Gene - OMIM - HGNC]
  • MAP3K21:mitogen-activated protein kinase kinase kinase 21 [Gene - OMIM - HGNC]
  • NENF:neudesin neurotrophic factor [Gene - OMIM - HGNC]
  • NID1:nidogen 1 [Gene - OMIM - HGNC]
  • NVL:nuclear VCP like [Gene - OMIM - HGNC]
  • NUP133:nucleoporin 133 [Gene - OMIM - HGNC]
  • NTPCR:nucleoside-triphosphatase, cancer-related [Gene - HGNC]
  • OBSCN:obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Gene - OMIM - HGNC]
  • OR1C1:olfactory receptor family 1 subfamily C member 1 [Gene - HGNC]
  • OR11L1:olfactory receptor family 11 subfamily L member 1 [Gene - HGNC]
  • OR13G1:olfactory receptor family 13 subfamily G member 1 [Gene - OMIM - HGNC]
  • OR14A16:olfactory receptor family 14 subfamily A member 16 [Gene - HGNC]
  • OR14C36:olfactory receptor family 14 subfamily C member 36 [Gene - HGNC]
  • OR14I1:olfactory receptor family 14 subfamily I member 1 [Gene - OMIM - HGNC]
  • OR2AK2:olfactory receptor family 2 subfamily AK member 2 [Gene - HGNC]
  • OR2B11:olfactory receptor family 2 subfamily B member 11 [Gene - HGNC]
  • OR2C3:olfactory receptor family 2 subfamily C member 3 [Gene - HGNC]
  • OR2G2:olfactory receptor family 2 subfamily G member 2 [Gene - HGNC]
  • OR2G3:olfactory receptor family 2 subfamily G member 3 [Gene - HGNC]
  • OR2G6:olfactory receptor family 2 subfamily G member 6 [Gene - HGNC]
  • OR2L13:olfactory receptor family 2 subfamily L member 13 [Gene - HGNC]
  • OR2L2:olfactory receptor family 2 subfamily L member 2 [Gene - HGNC]
  • OR2L3:olfactory receptor family 2 subfamily L member 3 [Gene - HGNC]
  • OR2L5:olfactory receptor family 2 subfamily L member 5 [Gene - HGNC]
  • OR2L8:olfactory receptor family 2 subfamily L member 8 [Gene - HGNC]
  • OR2M2:olfactory receptor family 2 subfamily M member 2 [Gene - HGNC]
  • OR2M3:olfactory receptor family 2 subfamily M member 3 [Gene - HGNC]
  • OR2M4:olfactory receptor family 2 subfamily M member 4 [Gene - HGNC]
  • OR2M5:olfactory receptor family 2 subfamily M member 5 [Gene - HGNC]
  • OR2M7:olfactory receptor family 2 subfamily M member 7 [Gene - OMIM - HGNC]
  • OR2T10:olfactory receptor family 2 subfamily T member 10 [Gene - HGNC]
  • OR2T11:olfactory receptor family 2 subfamily T member 11 [Gene - HGNC]
  • OR2T12:olfactory receptor family 2 subfamily T member 12 [Gene - HGNC]
  • OR2T1:olfactory receptor family 2 subfamily T member 1 [Gene - HGNC]
  • OR2T27:olfactory receptor family 2 subfamily T member 27 [Gene - HGNC]
  • OR2T29:olfactory receptor family 2 subfamily T member 29 [Gene - HGNC]
  • OR2T2:olfactory receptor family 2 subfamily T member 2 [Gene - HGNC]
  • OR2T33:olfactory receptor family 2 subfamily T member 33 [Gene - HGNC]
  • OR2T34:olfactory receptor family 2 subfamily T member 34 [Gene - HGNC]
  • OR2T35:olfactory receptor family 2 subfamily T member 35 [Gene - HGNC]
  • OR2T3:olfactory receptor family 2 subfamily T member 3 [Gene - HGNC]
  • OR2T4:olfactory receptor family 2 subfamily T member 4 [Gene - HGNC]
  • OR2T5:olfactory receptor family 2 subfamily T member 5 [Gene - HGNC]
  • OR2T6:olfactory receptor family 2 subfamily T member 6 [Gene - HGNC]
  • OR2T8:olfactory receptor family 2 subfamily T member 8 [Gene - HGNC]
  • OR2W3:olfactory receptor family 2 subfamily W member 3 [Gene - OMIM - HGNC]
  • OR6F1:olfactory receptor family 6 subfamily F member 1 [Gene - HGNC]
  • OPN3:opsin 3 [Gene - OMIM - HGNC]
  • PCNX2:pecanex 2 [Gene - OMIM - HGNC]
  • PLD5:phospholipase D family member 5 [Gene - HGNC]
  • PGBD2:piggyBac transposable element derived 2 [Gene - HGNC]
  • PGBD5:piggyBac transposable element derived 5 [Gene - OMIM - HGNC]
  • PARP1:poly(ADP-ribose) polymerase 1 [Gene - OMIM - HGNC]
  • GALNT2:polypeptide N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
  • KCTD3:potassium channel tetramerization domain containing 3 [Gene - OMIM - HGNC]
  • KCNK1:potassium two pore domain channel subfamily K member 1 [Gene - OMIM - HGNC]
  • KCNK2:potassium two pore domain channel subfamily K member 2 [Gene - OMIM - HGNC]
  • KCNH1:potassium voltage-gated channel subfamily H member 1 [Gene - OMIM - HGNC]
  • PSEN2:presenilin 2 [Gene - OMIM - HGNC]
  • PROX1:prospero homeobox 1 [Gene - OMIM - HGNC]
  • PPP2R5A:protein phosphatase 2 regulatory subunit B'alpha [Gene - OMIM - HGNC]
  • PTPN14:protein tyrosine phosphatase non-receptor type 14 [Gene - OMIM - HGNC]
  • PACC1:proton activated chloride channel 1 [Gene - OMIM - HGNC]
  • PYCR2:pyrroline-5-carboxylate reductase 2 [Gene - OMIM - HGNC]
  • RHOU:ras homolog family member U [Gene - OMIM - HGNC]
  • RGS7:regulator of G protein signaling 7 [Gene - OMIM - HGNC]
  • RRP15:ribosomal RNA processing 15 homolog [Gene - OMIM - HGNC]
  • RPS6KC1:ribosomal protein S6 kinase C1 [Gene - OMIM - HGNC]
  • RNF187:ring finger protein 187 [Gene - OMIM - HGNC]
  • RYR2:ryanodine receptor 2 [Gene - OMIM - HGNC]
  • SCCPDH:saccharopine dehydrogenase (putative) [Gene - HGNC]
  • PRSS38:serine protease 38 [Gene - HGNC]
  • SIPA1L2:signal induced proliferation associated 1 like 2 [Gene - OMIM - HGNC]
  • SRP9:signal recognition particle 9 [Gene - OMIM - HGNC]
  • SLC30A10:solute carrier family 30 member 10 [Gene - OMIM - HGNC]
  • SLC30A1:solute carrier family 30 member 1 [Gene - OMIM - HGNC]
  • SLC35F3:solute carrier family 35 member F3 [Gene - HGNC]
  • SPMIP3:sperm microtubule inner protein 3 [Gene - HGNC]
  • SPATA17:spermatogenesis associated 17 [Gene - OMIM - HGNC]
  • SPATA45:spermatogenesis associated 45 [Gene - HGNC]
  • STUM:stum, mechanosensory transduction mediator homolog [Gene - HGNC]
  • SUSD4:sushi domain containing 4 [Gene - OMIM - HGNC]
  • SNAP47:synaptosome associated protein 47 [Gene - OMIM - HGNC]
  • SYT14:synaptotagmin 14 [Gene - OMIM - HGNC]
  • TTC13:tetratricopeptide repeat domain 13 [Gene - HGNC]
  • TLR5:toll like receptor 5 [Gene - OMIM - HGNC]
  • TFB2M:transcription factor B2, mitochondrial [Gene - OMIM - HGNC]
  • TGFB2:transforming growth factor beta 2 [Gene - OMIM - HGNC]
  • TSNAX:translin associated factor X [Gene - OMIM - HGNC]
  • TOMM20:translocase of outer mitochondrial membrane 20 [Gene - OMIM - HGNC]
  • TMEM63A:transmembrane protein 63A [Gene - OMIM - HGNC]
  • TRIM11:tripartite motif containing 11 [Gene - OMIM - HGNC]
  • TRIM17:tripartite motif containing 17 [Gene - OMIM - HGNC]
  • TRIM58:tripartite motif containing 58 [Gene - OMIM - HGNC]
  • TRIM67:tripartite motif containing 67 [Gene - OMIM - HGNC]
  • TBCE:tubulin folding cofactor E [Gene - OMIM - HGNC]
  • TP53BP2:tumor protein p53 binding protein 2 [Gene - OMIM - HGNC]
  • USH2A:usherin [Gene - OMIM - HGNC]
  • VASH2:vasohibin 2 [Gene - OMIM - HGNC]
  • VN1R5:vomeronasal 1 receptor 5 (gene/pseudogene) [Gene - HGNC]
  • ZBTB18:zinc finger and BTB domain containing 18 [Gene - OMIM - HGNC]
  • ZNF124:zinc finger protein 124 [Gene - OMIM - HGNC]
  • ZNF496:zinc finger protein 496 [Gene - OMIM - HGNC]
  • ZNF669:zinc finger protein 669 [Gene - HGNC]
  • ZNF670:zinc finger protein 670 [Gene - HGNC]
  • ZNF672:zinc finger protein 672 [Gene - HGNC]
  • ZNF678:zinc finger protein 678 [Gene - HGNC]
  • ZNF692:zinc finger protein 692 [Gene - OMIM - HGNC]
  • ZNF695:zinc finger protein 695 [Gene - OMIM - HGNC]
  • ZP4:zona pellucida glycoprotein 4 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1q32.2-44
Genomic location:
Chr1: 210152794 - 249218992 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3
HGVS:
    Observations:
    1

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV001364222Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington
    criteria provided, single submitter

    (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)
    Pathogenic
    (Dec 18, 2019)
    unknownclinical testing

    Citation Link

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyes11not providednot providednot providedclinical testing

    Details of each submission

    From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV001364222.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided

    Description

    Patient also has 14q32.2q32.33(96,829,290-107,287,663)x1

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providedProducts of conceptionnot provided1not provided1not provided

    Last Updated: Oct 14, 2023