GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2022
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:: RCV002291540.3

Allele description [Variation Report for GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3]

GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3

Genes:

HTR2A:5-hydroxytryptamine receptor 2A [Gene - OMIM - HGNC]
AKAP11:A-kinase anchoring protein 11 [Gene - OMIM - HGNC]
ARL11:ADP ribosylation factor like GTPase 11 [Gene - OMIM - HGNC]
ADPRHL1:ADP-ribosylhydrolase like 1 [Gene - OMIM - HGNC]
ALG11:ALG11 alpha-1,2-mannosyltransferase [Gene - OMIM - HGNC]
ALG5:ALG5 dolichyl-phosphate beta-glucosyltransferase [Gene - OMIM - HGNC]
ANKRD10-IT1:ANKRD10 intronic transcript 1 [Gene - HGNC]
AMER2:APC membrane recruitment protein 2 [Gene - OMIM - HGNC]
ABCC4:ATP binding cassette subfamily C member 4 [Gene - OMIM - HGNC]
ATP11AUN:ATP11A upstream neighbor lncRNA [Gene - HGNC]
ATP12A:ATPase H+/K+ transporting non-gastric alpha2 subunit [Gene - OMIM - HGNC]
ATP4B:ATPase H+/K+ transporting subunit beta [Gene - OMIM - HGNC]
ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
ATP11A:ATPase phospholipid transporting 11A [Gene - OMIM - HGNC]
ATP8A2:ATPase phospholipid transporting 8A2 [Gene - OMIM - HGNC]
ATXN8OS:ATXN8 opposite strand lncRNA [Gene - OMIM - HGNC]
BIVM-ERCC5:BIVM-ERCC5 readthrough [Gene - HGNC]
BORA:BORA aurora kinase A activator [Gene - OMIM - HGNC]
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
C1QTNF9:C1q and TNF related 9 [Gene - OMIM - HGNC]
C1QTNF9B:C1q and TNF related 9B [Gene - OMIM - HGNC]
CCDC169-SOHLH2:CCDC169-SOHLH2 readthrough [Gene - HGNC]
CLN5:CLN5 intracellular trafficking protein [Gene - OMIM - HGNC]
COMMD6:COMM domain containing 6 [Gene - OMIM - HGNC]
DAOA:D-amino acid oxidase activator [Gene - OMIM - HGNC]
DAOA-AS1:DAOA antisense RNA 1 [Gene - OMIM - HGNC]
DZIP1:DAZ interacting zinc finger protein 1 [Gene - OMIM - HGNC]
DIS3:DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease [Gene - OMIM - HGNC]
LIG4:DNA ligase 4 [Gene - OMIM - HGNC]
DNAJC15:DnaJ heat shock protein family (Hsp40) member C15 [Gene - OMIM - HGNC]
DNAJC3:DnaJ heat shock protein family (Hsp40) member C3 [Gene - OMIM - HGNC]
ELF1:E74 like ETS transcription factor 1 [Gene - OMIM - HGNC]
EBPL:EBP like [Gene - OMIM - HGNC]
EEF1AKMT1:EEF1A lysine methyltransferase 1 [Gene - OMIM - HGNC]
ERCC5:ERCC excision repair 5, endonuclease [Gene - OMIM - HGNC]
FBXL3:F-box and leucine rich repeat protein 3 [Gene - OMIM - HGNC]
FARP1:FERM, ARH/RhoGEF and pleckstrin domain protein 1 [Gene - OMIM - HGNC]
FREM2:FRAS1 related extracellular matrix 2 [Gene - OMIM - HGNC]
FRY:FRY microtubule binding protein [Gene - OMIM - HGNC]
GPR12:G protein-coupled receptor 12 [Gene - OMIM - HGNC]
GPR180:G protein-coupled receptor 180 [Gene - OMIM - HGNC]
GPR183:G protein-coupled receptor 183 [Gene - OMIM - HGNC]
GPR18:G protein-coupled receptor 18 [Gene - OMIM - HGNC]
GPALPP1:GPALPP motifs containing 1 [Gene - HGNC]
GSX1:GS homeobox 1 [Gene - OMIM - HGNC]
KLF12:KLF transcription factor 12 [Gene - OMIM - HGNC]
KLF5:KLF transcription factor 5 [Gene - OMIM - HGNC]
LHFPL6:LHFPL tetraspan subfamily member 6 [Gene - OMIM - HGNC]
LMO7:LIM domain 7 [Gene - OMIM - HGNC]
LMO7DN:LMO7 downstream neighbor [Gene - HGNC]
MPHOSPH8:M-phase phosphoprotein 8 [Gene - OMIM - HGNC]
MCF2L:MCF.2 cell line derived transforming sequence like [Gene - OMIM - HGNC]
MIR4500HG:MIR4500 host gene [Gene - HGNC]
MYCBP2:MYC binding protein 2 [Gene - OMIM - HGNC]
NAA16:N-alpha-acetyltransferase 16, NatA auxiliary subunit [Gene - OMIM - HGNC]
NAXD:NAD(P)HX dehydratase [Gene - OMIM - HGNC]
NALF1:NALCN channel auxiliary factor 1 [Gene - OMIM - HGNC]
N4BP2L1:NEDD4 binding protein 2 like 1 [Gene - HGNC]
N4BP2L2:NEDD4 binding protein 2 like 2 [Gene - OMIM - HGNC]
NHLRC3:NHL repeat containing 3 [Gene - HGNC]
NEK3:NIMA related kinase 3 [Gene - OMIM - HGNC]
NEK5:NIMA related kinase 5 [Gene - OMIM - HGNC]
NDFIP2:Nedd4 family interacting protein 2 [Gene - OMIM - HGNC]
OBI1:ORC ubiquitin ligase 1 [Gene - OMIM - HGNC]
PCID2:PCI domain containing 2 [Gene - OMIM - HGNC]
PDS5B:PDS5 cohesin associated factor B [Gene - OMIM - HGNC]
PHF11:PHD finger protein 11 [Gene - OMIM - HGNC]
POU4F1:POU class 4 homeobox 1 [Gene - OMIM - HGNC]
RAB20:RAB20, member RAS oncogene family [Gene - HGNC]
RAP2A:RAP2A, member of RAS oncogene family [Gene - OMIM - HGNC]
RASL11A:RAS like family 11 member A [Gene - OMIM - HGNC]
RASA3:RAS p21 protein activator 3 [Gene - OMIM - HGNC]
RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
RCBTB1:RCC1 and BTB domain containing protein 1 [Gene - OMIM - HGNC]
RCBTB2:RCC1 and BTB domain containing protein 2 [Gene - OMIM - HGNC]
RBM26:RNA binding motif protein 26 [Gene - OMIM - HGNC]
POLR1D:RNA polymerase I and III subunit D [Gene - OMIM - HGNC]
ARHGEF7:Rho guanine nucleotide exchange factor 7 [Gene - OMIM - HGNC]
SETDB2:SET domain bifurcated histone lysine methyltransferase 2 [Gene - OMIM - HGNC]
SUGT1:SGT1 homolog, MIS12 kinetochore complex assembly cochaperone [Gene - OMIM - HGNC]
SLAIN1:SLAIN motif family member 1 [Gene - OMIM - HGNC]
SLC25A30-AS1:SLC25A30 antisense RNA 1 [Gene - HGNC]
SLITRK1:SLIT and NTRK like family member 1 [Gene - OMIM - HGNC]
SLITRK5:SLIT and NTRK like family member 5 [Gene - OMIM - HGNC]
SLITRK6:SLIT and NTRK like family member 6 [Gene - OMIM - HGNC]
SMAD9:SMAD family member 9 [Gene - OMIM - HGNC]
SPRYD7:SPRY domain containing 7 [Gene - OMIM - HGNC]
SUPT20H:SPT20 homolog, SAGA complex component [Gene - OMIM - HGNC]
SOX1:SRY-box transcription factor 1 [Gene - OMIM - HGNC]
SOX21:SRY-box transcription factor 21 [Gene - OMIM - HGNC]
SWINGN:SWI/SNF complex interacting GAS6 enhancer non-coding RNA [Gene - HGNC]
SAP18:Sin3A associated protein 18 [Gene - OMIM - HGNC]
STARD13:StAR related lipid transfer domain containing 13 [Gene - OMIM - HGNC]
TBC1D4:TBC1 domain family member 4 [Gene - OMIM - HGNC]
TGDS:TDP-glucose 4,6-dehydratase [Gene - OMIM - HGNC]
TNFRSF19:TNF receptor superfamily member 19 [Gene - OMIM - HGNC]
TNFSF11:TNF superfamily member 11 [Gene - OMIM - HGNC]
TNFSF13B:TNF superfamily member 13b [Gene - OMIM - HGNC]
TSC22D1:TSC22 domain family member 1 [Gene - OMIM - HGNC]
UBAC2:UBA domain containing 2 [Gene - HGNC]
UGGT2:UDP-glucose glycoprotein glucosyltransferase 2 [Gene - OMIM - HGNC]
UPF3A:UPF3A regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
UTP14C:UTP14C small subunit processome component [Gene - OMIM - HGNC]
WASF3:WASP family member 3 [Gene - OMIM - HGNC]
WDFY2:WD repeat and FYVE domain containing 2 [Gene - OMIM - HGNC]
WBP4:WW domain binding protein 4 [Gene - OMIM - HGNC]
ZIC2:Zic family member 2 [Gene - OMIM - HGNC]
ZIC5:Zic family member 5 [Gene - OMIM - HGNC]
ABHD13:abhydrolase domain containing 13 [Gene - HGNC]
ACOD1:aconitate decarboxylase 1 [Gene - OMIM - HGNC]
ANKRD10:ankyrin repeat domain 10 [Gene - HGNC]
ALOX5AP:arachidonate 5-lipoxygenase activating protein [Gene - OMIM - HGNC]
ARGLU1:arginine and glutamate rich 1 [Gene - OMIM - HGNC]
BIVM:basic, immunoglobulin-like variable motif containing [Gene - OMIM - HGNC]
B3GLCT:beta 3-glucosyltransferase [Gene - OMIM - HGNC]
CAB39L:calcium binding protein 39 like [Gene - OMIM - HGNC]
CPB2:carboxypeptidase B2 [Gene - OMIM - HGNC]
CSNK1A1L:casein kinase 1 alpha 1 like [Gene - HGNC]
CDX2:caudal type homeobox 2 [Gene - OMIM - HGNC]
CDC16:cell division cycle 16 [Gene - OMIM - HGNC]
CENPJ:centromere protein J [Gene - OMIM - HGNC]
CBY2:chibby family member 2 [Gene - OMIM - HGNC]
CNMD:chondromodulin [Gene - OMIM - HGNC]
CHAMP1:chromosome alignment maintaining phosphoprotein 1 [Gene - OMIM - HGNC]
CLYBL:citramalyl-CoA lyase [Gene - OMIM - HGNC]
CLDN10:claudin 10 [Gene - OMIM - HGNC]
F7:coagulation factor VII [Gene - OMIM - HGNC]
F10:coagulation factor X [Gene - OMIM - HGNC]
CCDC122:coiled-coil domain containing 122 [Gene - OMIM - HGNC]
CCDC168:coiled-coil domain containing 168 [Gene - HGNC]
CCDC169:coiled-coil domain containing 169 [Gene - HGNC]
CCDC70:coiled-coil domain containing 70 [Gene - HGNC]
COL4A1:collagen type IV alpha 1 chain [Gene - OMIM - HGNC]
COL4A2:collagen type IV alpha 2 chain [Gene - OMIM - HGNC]
COG3:component of oligomeric golgi complex 3 [Gene - OMIM - HGNC]
COG6:component of oligomeric golgi complex 6 [Gene - OMIM - HGNC]
CRYL1:crystallin lambda 1 [Gene - OMIM - HGNC]
CUL4A:cullin 4A [Gene - OMIM - HGNC]
CCNA1:cyclin A1 [Gene - OMIM - HGNC]
CDK8:cyclin dependent kinase 8 [Gene - OMIM - HGNC]
CYSLTR2:cysteinyl leukotriene receptor 2 [Gene - OMIM - HGNC]
CARS2:cysteinyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
CDADC1:cytidine and dCMP deaminase domain containing 1 [Gene - OMIM - HGNC]
CKAP2:cytoskeleton associated protein 2 [Gene - OMIM - HGNC]
DACH1:dachshund family transcription factor 1 [Gene - OMIM - HGNC]
DOCK9:dedicator of cytokinesis 9 [Gene - OMIM - HGNC]
DCUN1D2:defective in cullin neddylation 1 domain containing 2 [Gene - HGNC]
DHRS12:dehydrogenase/reductase 12 [Gene - OMIM - HGNC]
DLEU1:deleted in lymphocytic leukemia 1 [Gene - OMIM - HGNC]
DLEU2:deleted in lymphocytic leukemia 2 [Gene - OMIM - HGNC]
DLEU7:deleted in lymphocytic leukemia 7 [Gene - OMIM - HGNC]
DGKH:diacylglycerol kinase eta [Gene - OMIM - HGNC]
DIAPH3:diaphanous related formin 3 [Gene - OMIM - HGNC]
DCT:dopachrome tautomerase [Gene - OMIM - HGNC]
DCLK1:doublecortin like kinase 1 [Gene - OMIM - HGNC]
ENOX1:ecto-NOX disulfide-thiol exchanger 1 [Gene - OMIM - HGNC]
EDNRB:endothelin receptor type B [Gene - OMIM - HGNC]
EFNB2:ephrin B2 [Gene - OMIM - HGNC]
EPSTI1:epithelial stromal interaction 1 [Gene - OMIM - HGNC]
ESD:esterase D [Gene - OMIM - HGNC]
EXOSC8:exosome component 8 [Gene - OMIM - HGNC]
XPO4:exportin 4 [Gene - OMIM - HGNC]
FAM124A:family with sequence similarity 124 member A [Gene - HGNC]
FAM216B:family with sequence similarity 216 member B [Gene - HGNC]
FGF14:fibroblast growth factor 14 [Gene - OMIM - HGNC]
FGF9:fibroblast growth factor 9 [Gene - OMIM - HGNC]
FNDC3A:fibronectin type III domain containing 3A [Gene - OMIM - HGNC]
FLT1:fms related receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
FLT3:fms related receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
FOXO1:forkhead box O1 [Gene - OMIM - HGNC]
GGACT:gamma-glutamylamine cyclotransferase [Gene - OMIM - HGNC]
GJA3:gap junction protein alpha 3 [Gene - OMIM - HGNC]
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
GJB6:gap junction protein beta 6 [Gene - OMIM - HGNC]
GTF2F2:general transcription factor IIF subunit 2 [Gene - OMIM - HGNC]
GTF3A:general transcription factor IIIA [Gene - OMIM - HGNC]
ERICH6B:glutamate rich 6B [Gene - HGNC]
GPC5:glypican 5 [Gene - OMIM - HGNC]
GPC6:glypican 6 [Gene - OMIM - HGNC]
GAS6:growth arrest specific 6 [Gene - OMIM - HGNC]
GRTP1:growth hormone regulated TBC protein 1 [Gene - HGNC]
HSPH1:heat shock protein family H (Hsp110) member 1 [Gene - OMIM - HGNC]
HS6ST3:heparan sulfate 6-O-sulfotransferase 3 [Gene - OMIM - HGNC]
HNRNPA1L2:heterogeneous nuclear ribonucleoprotein A1 like 2 [Gene - HGNC]
HMGB1:high mobility group box 1 [Gene - OMIM - HGNC]
IPO5:importin 5 [Gene - OMIM - HGNC]
ING1:inhibitor of growth family member 1 [Gene - OMIM - HGNC]
IRS2:insulin receptor substrate 2 [Gene - OMIM - HGNC]
ITM2B:integral membrane protein 2B [Gene - OMIM - HGNC]
INTS6:integrator complex subunit 6 [Gene - OMIM - HGNC]
ITGBL1:integrin subunit beta like 1 [Gene - OMIM - HGNC]
IL17D:interleukin 17D [Gene - OMIM - HGNC]
IFT88:intraflagellar transport 88 [Gene - OMIM - HGNC]
KPNA3:karyopherin subunit alpha 3 [Gene - OMIM - HGNC]
KATNAL1:katanin catalytic subunit A1 like 1 [Gene - OMIM - HGNC]
KLHL1:kelch like family member 1 [Gene - OMIM - HGNC]
KBTBD6:kelch repeat and BTB domain containing 6 [Gene - OMIM - HGNC]
KBTBD7:kelch repeat and BTB domain containing 7 [Gene - OMIM - HGNC]
KL:klotho [Gene - OMIM - HGNC]
LACC1:laccase domain containing 1 [Gene - OMIM - HGNC]
LATS2:large tumor suppressor kinase 2 [Gene - OMIM - HGNC]
LRRC63:leucine rich repeat containing 63 [Gene - HGNC]
LRCH1:leucine rich repeats and calponin homology domain containing 1 [Gene - OMIM - HGNC]
LNX2:ligand of numb-protein X 2 [Gene - OMIM - HGNC]
LINC00402:long intergenic non-protein coding RNA 402 [Gene - HGNC]
LINC00427:long intergenic non-protein coding RNA 427 [Gene - HGNC]
LINC00543:long intergenic non-protein coding RNA 543 [Gene - HGNC]
LINC00558:long intergenic non-protein coding RNA 558 [Gene - HGNC]
LINC00567:long intergenic non-protein coding RNA 567 [Gene - HGNC]
LCP1:lymphocyte cytosolic protein 1 [Gene - OMIM - HGNC]
LPAR6:lysophosphatidic acid receptor 6 [Gene - OMIM - HGNC]
LAMP1:lysosomal associated membrane protein 1 [Gene - OMIM - HGNC]
MAB21L1:mab-21 like 1 [Gene - OMIM - HGNC]
MED4:mediator complex subunit 4 [Gene - OMIM - HGNC]
MEDAG:mesenteric estrogen dependent adipogenesis [Gene - HGNC]
METTL21C:methyltransferase 21C, AARS1 lysine [Gene - OMIM - HGNC]
MIR17HG:miR-17-92a-1 cluster host gene [Gene - OMIM - HGNC]
MIR15A:microRNA 15a [Gene - OMIM - HGNC]
MIR16-1:microRNA 16-1 [Gene - OMIM - HGNC]
MIR17:microRNA 17 [Gene - OMIM - HGNC]
MIR18A:microRNA 18a [Gene - OMIM - HGNC]
MIR19A:microRNA 19a [Gene - OMIM - HGNC]
MIR19B1:microRNA 19b-1 [Gene - OMIM - HGNC]
MIR20A:microRNA 20a [Gene - OMIM - HGNC]
MIR92A1:microRNA 92a-1 [Gene - OMIM - HGNC]
MTUS2:microtubule associated scaffold protein 2 [Gene - OMIM - HGNC]
MICU2:mitochondrial calcium uptake 2 [Gene - OMIM - HGNC]
MIPEP:mitochondrial intermediate peptidase [Gene - OMIM - HGNC]
MRPL57:mitochondrial ribosomal protein L57 [Gene - OMIM - HGNC]
MRPS31:mitochondrial ribosomal protein S31 [Gene - OMIM - HGNC]
MTRF1:mitochondrial translation release factor 1 [Gene - OMIM - HGNC]
MTIF3:mitochondrial translational initiation factor 3 [Gene - OMIM - HGNC]
MZT1:mitotic spindle organizing protein 1 [Gene - OMIM - HGNC]
MLNR:motilin receptor [Gene - OMIM - HGNC]
MBNL2:muscleblind like splicing regulator 2 [Gene - OMIM - HGNC]
MYO16:myosin XVI [Gene - OMIM - HGNC]
MTMR6:myotubularin related protein 6 [Gene - OMIM - HGNC]
NBEA:neurobeachin [Gene - OMIM - HGNC]
NUFIP1:nuclear FMR1 interacting protein 1 [Gene - OMIM - HGNC]
NUP58:nucleoporin 58 [Gene - OMIM - HGNC]
NUDT15:nudix hydrolase 15 [Gene - OMIM - HGNC]
OLFM4:olfactomedin 4 [Gene - OMIM - HGNC]
OXGR1:oxoglutarate receptor 1 [Gene - OMIM - HGNC]
PDX1:pancreatic and duodenal homeobox 1 [Gene - OMIM - HGNC]
PSPC1:paraspeckle component 1 [Gene - OMIM - HGNC]
POSTN:periostin [Gene - OMIM - HGNC]
PABPC3:poly(A) binding protein cytoplasmic 3 [Gene - OMIM - HGNC]
PAN3:poly(A) specific ribonuclease subunit PAN3 [Gene - OMIM - HGNC]
PARP4:poly(ADP-ribose) polymerase family member 4 [Gene - OMIM - HGNC]
KCNRG:potassium channel regulator [Gene - OMIM - HGNC]
KCTD12:potassium channel tetramerization domain containing 12 [Gene - OMIM - HGNC]
KCTD4:potassium channel tetramerization domain containing 4 [Gene - HGNC]
PIBF1:progesterone immunomodulatory binding factor 1 [Gene - OMIM - HGNC]
PROSER1:proline and serine rich 1 [Gene - HGNC]
PRR20A:proline rich 20A [Gene - HGNC]
PRR20B:proline rich 20B [Gene - HGNC]
PRR20C:proline rich 20C [Gene - HGNC]
PRR20D:proline rich 20D [Gene - HGNC]
PRR20E:proline rich 20E [Gene - HGNC]
PCCA:propionyl-CoA carboxylase subunit alpha [Gene - OMIM - HGNC]
PCOTH:prostate and testis expressed opposite C1QTNF9B and MIPEP [Gene - OMIM - HGNC]
POMP:proteasome maturation protein [Gene - OMIM - HGNC]
POGLUT2:protein O-glucosyltransferase 2 [Gene - OMIM - HGNC]
PROZ:protein Z, vitamin K dependent plasma glycoprotein [Gene - OMIM - HGNC]
PCDH17:protocadherin 17 [Gene - OMIM - HGNC]
PCDH20:protocadherin 20 [Gene - OMIM - HGNC]
PCDH8:protocadherin 8 [Gene - OMIM - HGNC]
PCDH9:protocadherin 9 [Gene - OMIM - HGNC]
RGCC:regulator of cell cycle [Gene - OMIM - HGNC]
RFXAP:regulatory factor X associated protein [Gene - OMIM - HGNC]
RXFP2:relaxin family peptide receptor 2 [Gene - OMIM - HGNC]
RFC3:replication factor C subunit 3 [Gene - OMIM - HGNC]
RNASEH2B:ribonuclease H2 subunit B [Gene - OMIM - HGNC]
RPL21:ribosomal protein L21 [Gene - OMIM - HGNC]
RNF113B:ring finger protein 113B [Gene - HGNC]
RNF17:ring finger protein 17 [Gene - OMIM - HGNC]
RNF6:ring finger protein 6 [Gene - OMIM - HGNC]
RUBCNL:rubicon like autophagy enhancer [Gene - OMIM - HGNC]
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
SGCG:sarcoglycan gamma [Gene - OMIM - HGNC]
SCEL:sciellin [Gene - OMIM - HGNC]
SERTM1:serine rich and transmembrane domain containing 1 [Gene - HGNC]
STK24:serine/threonine kinase 24 [Gene - OMIM - HGNC]
SERPINE3:serpin family E member 3 [Gene - HGNC]
SHISA2:shisa family member 2 [Gene - OMIM - HGNC]
SIAH3:siah E3 ubiquitin protein ligase family member 3 [Gene - OMIM - HGNC]
SMIM2:small integral membrane protein 2 [Gene - HGNC]
NALCN:sodium leak channel, non-selective [Gene - OMIM - HGNC]
SLC10A2:solute carrier family 10 member 2 [Gene - OMIM - HGNC]
SLC15A1:solute carrier family 15 member 1 [Gene - OMIM - HGNC]
SLC25A15:solute carrier family 25 member 15 [Gene - OMIM - HGNC]
SLC25A30:solute carrier family 25 member 30 [Gene - OMIM - HGNC]
SLC46A3:solute carrier family 46 member 3 [Gene - OMIM - HGNC]
SLC7A1:solute carrier family 7 member 1 [Gene - OMIM - HGNC]
SPART:spartin [Gene - OMIM - HGNC]
SPACA7:sperm acrosome associated 7 [Gene - HGNC]
SOHLH2:spermatogenesis and oogenesis specific basic helix-loop-helix 2 [Gene - OMIM - HGNC]
SPATA13:spermatogenesis associated 13 [Gene - OMIM - HGNC]
SKA3:spindle and kinetochore associated complex subunit 3 [Gene - OMIM - HGNC]
SPRY2:sprouty RTK signaling antagonist 2 [Gene - OMIM - HGNC]
STOML3:stomatin like 3 [Gene - OMIM - HGNC]
SERP2:stress associated endoplasmic reticulum protein family member 2 [Gene - HGNC]
SUCLA2:succinate-CoA ligase ADP-forming subunit beta [Gene - OMIM - HGNC]
TEX26:testis expressed 26 [Gene - HGNC]
TEX29:testis expressed 29 [Gene - HGNC]
TEX30:testis expressed 30 [Gene - HGNC]
THSD1:thrombospondin type 1 domain containing 1 [Gene - OMIM - HGNC]
TFDP1:transcription factor Dp-1 [Gene - OMIM - HGNC]
TRPC4:transient receptor potential cation channel subfamily C member 4 [Gene - OMIM - HGNC]
TM9SF2:transmembrane 9 superfamily member 2 [Gene - OMIM - HGNC]
TMTC4:transmembrane O-mannosyltransferase targeting cadherins 4 [Gene - OMIM - HGNC]
TMCO3:transmembrane and coiled-coil domains 3 [Gene - OMIM - HGNC]
TPTE2:transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 [Gene - OMIM - HGNC]
TMEM255B:transmembrane protein 255B [Gene - HGNC]
TRIM13:tripartite motif containing 13 [Gene - OMIM - HGNC]
TPP2:tripeptidyl peptidase 2 [Gene - OMIM - HGNC]
TUBA3C:tubulin alpha 3c [Gene - OMIM - HGNC]
TUBGCP3:tubulin gamma complex component 3 [Gene - OMIM - HGNC]
TDRD3:tudor domain containing 3 [Gene - OMIM - HGNC]
TPT1:tumor protein, translationally-controlled 1 [Gene - OMIM - HGNC]
UCHL3:ubiquitin C-terminal hydrolase L3 [Gene - OMIM - HGNC]
UFM1:ubiquitin fold modifier 1 [Gene - OMIM - HGNC]
UBL3:ubiquitin like 3 [Gene - OMIM - HGNC]
USP12:ubiquitin specific peptidase 12 [Gene - OMIM - HGNC]
USPL1:ubiquitin specific peptidase like 1 [Gene - OMIM - HGNC]
LOC100288208:uncharacterized LOC100288208 [Gene]
URAD:ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase [Gene - OMIM - HGNC]
VPS36:vacuolar protein sorting 36 homolog [Gene - OMIM - HGNC]
VWA8:von Willebrand factor A domain containing 8 [Gene - OMIM - HGNC]
ZC3H13:zinc finger CCCH-type containing 13 [Gene - OMIM - HGNC]
ZDHHC20:zinc finger DHHC-type palmitoyltransferase 20 [Gene - OMIM - HGNC]
ZMYM2:zinc finger MYM-type containing 2 [Gene - OMIM - HGNC]
ZMYM5:zinc finger MYM-type containing 5 [Gene - OMIM - HGNC]
ZAR1L:zygote arrest 1 like [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

13q11-34

Genomic location:

Chr13: 19253848 - 115108937 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3

HGVS:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002583859	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL CNVClassificationCriteria Aug2020)	Pathogenic (Feb 1, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002583859

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL CNVClassificationCriteria Aug2020)

Pathogenic
(Feb 1, 2022)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Trisomy 13.

Noriega MA, Siddik AB.

2023 Aug 13. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-.

PubMed [citation]

PMID:: 32644517

Details of each submission

From Illumina Laboratory Services, Illumina, SCV002583859.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This CNV is a 96 Mb gain of 13q12q34 on chromosome 13, (seq[GRCh37]dup(13)(q12q34);chr13:g.19253848_115108937dup). This gain encompasses 314 protein coding genes and is consistent with trisomy of the long arm of chromosome 13 (trisomy 13q). Gains of 13q only are described in up to 20% of individuals with various forms of trisomy 13, and are typically associated with de novo or inherited structural chromosome rearrangements including Robertsonian translocations or isochromosomes (Noriega and Siddik 2021). This CNV has not been reported in controls. Based on the available evidence, this CNV is classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 14, 2023

ClinVar

Relating variation to medicine