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Variant : CV73295 (GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3) Homo sapiens

Symbol: CV73295
Name: GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AANAT   AARSD1   AATF   AATK   ABCA10   ABCA5   ABCA6   ABCA8   ABCA9   ABCA9-AS1   ABCC3   ABI3   ACACA   ACBD4   ACE   ACLY   ACOX1   ACSF2   ACTG1   ADAM11   AFMID   AKAP1   ALYREF   AMZ2   ANAPC11   ANKFN1   ANKRD40   ANKRD40CL   AOC2   AOC3   APOH   APPBP2   ARHGAP23   ARHGAP27   ARHGDIA   ARL16   ARL17A   ARL17B   ARL4D   ARL5C   ARMC7   ARSG   ASB16   ASB16-AS1   ASPSCR1   ATP5MC1   ATP5PD   ATP6V0A1   ATXN7L3   AXIN2   B3GNTL1   B4GALNT2   BAHCC1   BAIAP2   BAIAP2-DT   BCAS3   BECN1   BIRC5   BPTF   BRCA1   BRIP1   BTBD17   C17orf58   C17orf64   C17orf67   C17orf77   C17orf78   C17orf80   C17orf98   C17orf99   C1QL1   C1QTNF1   C1QTNF1-AS1   CA10   CA4   CACNA1G   CACNA1G-AS1   CACNB1   CACNG1   CACNG4   CACNG5   CALCOCO2   CANT1   CARD14   CASC17   CASC3   CASKIN2   CAVIN1   CBX1   CBX2   CBX4   CBX8   CCDC103   CCDC137   CCDC182   CCDC200   CCDC40   CCDC43   CCDC47   CCDC57   CCR10   CCR7   CD300A   CD300C   CD300E   CD300LB   CD300LD   CD300LF   CD300LG   CD7   CD79B   CDC27   CDC42EP4   CDC6   CDK12   CDK3   CDK5RAP3   CDR2L   CENPX   CEP112   CEP131   CEP295NL   CEP95   CFAP97D1   CHAD   CHMP6   CISD3   CLTC   CNP   CNTD1   CNTNAP1   COA3   COASY   COG1   COIL   COL1A1   COPZ2   COX11   CPSF4L   CRHR1   CSF3   CSH1   CSH2   CSHL1   CSNK1D   CUEDC1   CWC25   CYB561   CYBC1   CYGB   CYTH1   DBF4B   DCAF7   DCAKD   DCXR   DDX42   DDX5   DDX52   DGKE   DHRS11   DHX40   DHX58   DHX8   DLX3   DLX4   DNAH17   DNAH17-AS1   DNAI2   DNAJC7   DUS1L   DUSP14   DUSP3   DYNLL2   EFCAB13   EFCAB3   EFTUD2   EIF1   EIF4A3   EME1   ENDOV   ENGASE   ENPP7   EPN3   EPOP   EPX   ERBB2   ERN1   ETV4   EVPL   EXOC7   EZH1   FAAP100   FADS6   FAM104A   FAM117A   FAM171A2   FAM20A   FAM215A   FASN   FBF1   FBXL20   FBXO47   FDXR   FKBP10   FLJ40194   FMNL1   FN3K   FN3KRP   FOXJ1   FOXK2   FSCN2   FTSJ3   FZD2   G6PC   G6PC3   GAA   GALK1   GALR2   GAST   GCGR   GDPD1   GFAP   GGA3   GGNBP2   GH1   GH2   GHDC   GIP   GJC1   GJD3   GNA13   GNGT2   GOSR2   GPATCH8   GPR142   GPR179   GPRC5C   GPS1   GRB2   GRB7   GRIN2C   GRN   GSDMA   GSDMB   H1-9P   H3-3B   HAP1   HCRT   HDAC5   HEATR6   HELZ   HEXD   HEXD-IT1   HEXIM1   HEXIM2   HGS   HID1   HID1-AS1   HIGD1B   HLF   HNF1B   HOXB-AS1   HOXB-AS3   HOXB1   HOXB13   HOXB2   HOXB3   HOXB4   HOXB5   HOXB6   HOXB7   HOXB8   HOXB9   HROB   HSD17B1   HSF5   HSPB9   ICAM2   IFI35   IGF2BP1   IGFBP4   IKZF3   INTS2   ITGA2B   ITGA3   ITGB3   ITGB4   JMJD6   JPT1   JUP   KANSL1   KANSL1-AS1   KAT2A   KAT7   KCNH4   KCNH6   KCNJ16   KCNJ2   KCNJ2-AS1   KCTD2   KIF18B   KIF19   KIF2B   KLHL10   KLHL11   KPNA2   KPNB1   KRT10   KRT12   KRT13   KRT14   KRT15   KRT16   KRT17   KRT19   KRT20   KRT222   KRT23   KRT24   KRT25   KRT26   KRT27   KRT28   KRT31   KRT32   KRT33A   KRT33B   KRT34   KRT35   KRT36   KRT37   KRT38   KRT39   KRT40   KRT9   KRTAP1-1   KRTAP1-3   KRTAP1-4   KRTAP1-5   KRTAP16-1   KRTAP17-1   KRTAP2-1   KRTAP2-2   KRTAP2-3   KRTAP2-4   KRTAP29-1   KRTAP3-1   KRTAP3-2   KRTAP3-3   KRTAP4-1   KRTAP4-11   KRTAP4-12   KRTAP4-2   KRTAP4-3   KRTAP4-4   KRTAP4-5   KRTAP4-6   KRTAP4-7   KRTAP4-8   KRTAP4-9   KRTAP9-1   KRTAP9-2   KRTAP9-3   KRTAP9-4   KRTAP9-6   KRTAP9-7   KRTAP9-8   KRTAP9-9   LASP1   LGALS3BP   LHX1   LIMD2   LINC00469   LINC00482   LINC00511   LINC00671   LINC00672   LINC00673   LINC00674   LINC00868   LINC00910   LINC00974   LINC01028   LINC01152   LINC01180   LINC01476   LINC01482   LINC01483   LINC01497   LINC01969   LINC01970   LINC01971   LINC01973   LINC01974   LINC01976   LINC01977   LINC01978   LINC01979   LINC01982   LINC01987   LINC01993   LINC01999   LINC02003   LINC02071   LINC02072   LINC02073   LINC02074   LINC02075   LINC02078   LINC02079   LINC02080   LINC02086   LINC02089   LINC02092   LINC02097   LINC02210   LINC02210-CRHR1   LINC02563   LINC02875   LINC02876   LLGL2   LOC400627   LPO   LRRC37A   LRRC37A2   LRRC37A3   LRRC3C   LRRC45   LRRC46   LRRC59   LSM12   LUC7L3   MAFG   MAFG-DT   MAP2K6   MAP3K14   MAP3K14-AS1   MAP3K3   MAPT   MAPT-AS1   MAPT-IT1   MARCHF10   MBTD1   MCRIP1   MED1   MED13   MED24   MEIOC   MEOX1   METRNL   METTL23   METTL2A   MFSD11   MGAT5B   MIEN1   MIF4GD   MILR1   MIR10A   MIR1203   MIR1250   MIR1268B   MIR142   MIR152   MIR196A1   MIR21   MIR2117   MIR2909   MIR301A   MIR3064   MIR3065   MIR3185   MIR3186   MIR338   MIR3614   MIR3615   MIR3678   MIR378J   MIR4315-1   MIR4315-2   MIR4316   MIR4524A   MIR4524B   MIR4525   MIR454   MIR4726   MIR4727   MIR4728   MIR4729   MIR4730   MIR4734   MIR4736   MIR4737   MIR4738   MIR4739   MIR4740   MIR5010   MIR5047   MIR5089   MIR548AA2   MIR548AT   MIR548D2   MIR6080   MIR6129   MIR6165   MIR633   MIR634   MIR635   MIR636   MIR6510   MIR6516   MIR657   MIR6779   MIR6780A   MIR6781   MIR6782   MIR6783   MIR6784   MIR6785   MIR6786   MIR6787   MIR6866   MIR6867   MIR6868   MIR6884   MIR8059   MKS1   MLLT6   MLX   MMD   MPO   MPP2   MPP3   MRC2   MRM1   MRPL10   MRPL12   MRPL27   MRPL38   MRPL45   MRPL58   MRPS23   MRPS7   MSI2   MSL1   MTMR4   MXRA7   MYADML2   MYCBPAP   MYL4   MYO15B   MYO19   NACA2   NAGLU   NAGS   NARF   NAT9   NBR1   NBR2   NDUFAF8   NEUROD2   NFE2L1   NGFR   NKIRAS2   NME1   NME1-NME2   NME2   NMT1   NOG   NOL11   NOTUM   NPB   NPEPPS   NPLOC4   NPTX1   NR1D1   NSF   NT5C   NT5C3B   NUP85   NXPH3   OGFOD3   OR4D1   OR4D2   ORMDL3   OSBPL7   OTOP2   OTOP3   OXLD1   P3H4   P4HB   PCGF2   PCTP   PCYT2   PDE6G   PDK2   PECAM1   PGAP3   PGS1   PHB   PHOSPHO1   PIGW   PIP4K2B   PITPNC1   PLCD3   PLEKHH3   PLEKHM1   PLXDC1   PNMT   PNPO   POLG2   PPM1D   PPM1E   PPP1R1B   PPP1R27   PPP1R9B   PPY   PRAC1   PRAC2   PRCD   PRKAR1A   PRKCA   PRKCA-AS1   PRPSAP1   PRR11   PRR15L   PRR29   PRR29-AS1   PSMB3   PSMC3IP   PSMC5   PSMD12   PSMD3   PSME3   PTGES3L   PTGES3L-AARSD1   PTRH2   PVALEF   PYCR1   PYY   QRICH2   RAB37   RAB40B   RAB5C   RAC3   RAD51C   RAMP2   RAMP2-AS1   RAPGEFL1   RARA   RARA-AS1   RBFOX3   RECQL5   RETREG3   RFNG   RGS9   RHBDF2   RND2   RNF157   RNF157-AS1   RNF213   RNF43   RNFT1   RNU2-1   ROCR   RPL19   RPL23   RPL27   RPL38   RPRML   RPS6KB1   RPTOR   RSAD1   RUNDC1   RUNDC3A   RUNDC3A-AS1   SAMD14   SAP30BP   SCARNA16   SCARNA20   SCAT1   SCN4A   SCPEP1   SCRN2   SDK2   SEC14L1   SECTM1   SEPTIN4   SEPTIN4-AS1   SEPTIN9   SGCA   SGSH   SHC1P2   SIRT7   SKA2   SKAP1   SLC16A3   SLC16A5   SLC16A6   SLC25A10   SLC25A19   SLC25A39   SLC26A11   SLC35B1   SLC38A10   SLC39A11   SLC4A1   SLC9A3R1   SMARCD2   SMARCE1   SMG8   SMIM5   SMIM6   SMURF2   SNF8   SNHG16   SNHG20   SNHG25   SNORA21   SNORA38B   SNORA50C   SNORA90   SNORD104   SNORD124   SNORD134   SNORD1A   SNORD1B   SNORD1C   SNX11   SOCS3   SOCS7   SOST   SOX9   SOX9-AS1   SP2   SP2-AS1   SP6   SPAG9   SPATA20   SPATA32   SPHK1   SPOP   SPPL2C   SRCIN1   SRP68   SRSF1   SRSF2   SSTR2   ST6GALNAC1   ST6GALNAC2   STAC2   STARD3   STAT3   STAT5A   STAT5B   STH   STRADA   STXBP4   SUMO2   SUPT4H1   SYNGR2   SYNRG   TAC4   TACO1   TADA2A   TANC2   TBC1D16   TBC1D3   TBC1D3C   TBC1D3D   TBC1D3E   TBC1D3J   TBC1D3K   TBC1D3L   TBCD   TBKBP1   TBX2   TBX2-AS1   TBX21   TBX4   TCAM1P   TCAP   TEN1   TEN1-CDK3   TEPSIN   TEX14   TEX19   TEX2   THRA   TIMP2   TK1   TLK2   TMC6   TMC8   TMEM100   TMEM101   TMEM104   TMEM105   TMEM106A   TMEM235   TMEM92   TMEM92-AS1   TMEM94   TMEM99   TMUB2   TNRC6C   TNRC6C-AS1   TNS4   TOB1   TOB1-AS1   TOM1L1   TOP2A   TRC-GCA14-1   TRC-GCA2-2   TRC-GCA2-3   TRC-GCA2-4   TRC-GCA4-1   TRIM25   TRIM37   TRIM47   TRIM65   TRN-GTT2-5   TRQ-TTG1-1   TRR-CCG2-1   TRR-CCT1-1   TRR-CCT2-1   TRR-TCG3-1   TRSUP-TTA1-1   TRX-CAT1-8   TSEN54   TSPAN10   TSPOAP1   TSPOAP1-AS1   TTC25   TTLL6   TTYH2   TUBD1   TUBG1   TUBG2   UBALD2   UBE2O   UBE2Z   UBTF   UNC13D   UNK   USH1G   USP32   USP36   UTP18   UTS2R   VAT1   VEZF1   VMP1   VPS25   WBP2   WDR45B   WFDC21P   WFIKKN2   WIPF2   WIPI1   WNK4   WNT3   WNT9B   XYLT2   YPEL2   ZACN   ZNF385C   ZNF652   ZNF750   ZNHIT3   ZPBP2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_36449220)_(83086677_?)dup
NC_000017.10:g.(?_58617905)_(81044553_?)dup
NC_000017.9:g.(?_55972687)_(78637842_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381736,449,220 - 83,086,677CLINVAR
GRCh371758,617,905 - 81,044,553CLINVAR
Build 361755,972,687 - 78,637,842CLINVAR
Cytogenetic Map1717q23.2-25.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619463
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.