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Variant : CV247957 (GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3) Homo sapiens

Symbol: CV247957
Name: GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3
Condition: See cases [RCV000240091]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: A4GALT   ACO2   ACR   ADA2   ADM2   ADORA2A   ADSL   AIFM3   ALG12   ANKRD54   AP1B1   APOBEC3A   APOBEC3B   APOBEC3C   APOBEC3D   APOBEC3F   APOBEC3G   APOBEC3H   APOL1   APOL2   APOL3   APOL4   APOL5   APOL6   ARFGAP3   ARHGAP8   ARSA   ARVCF   ASCC2   ASPHD2   ATF4   ATP5MGL   ATP6V1E1   ATXN10   BAIAP2L2   BCL2L13   BCR   BID   BIK   BPIFC   BRD1   C1QTNF6   C22orf15   C22orf23   C22orf24   C22orf31   C22orf39   C22orf42   CABIN1   CABP7   CACNA1I   CACNG2   CARD10   CASTOR1   CBX6   CBX7   CBY1   CCDC116   CCDC117   CCDC134   CCDC157   CCT8L2   CDC42EP1   CDC45   CDPF1   CECR2   CECR3   CELSR1   CENPM   CERK   CHADL   CHCHD10   CHEK2   CHKB   CLDN5   CLTCL1   COMT   CPT1B   CRELD2   CRKL   CRYBA4   CRYBB1   CRYBB2   CRYBB3   CSDC2   CSF2RB   CSNK1E   CYB5R3   CYP2D6   CYTH4   DDT   DDTL   DDX17   DENND6B   DEPDC5   DERL3   DESI1   DGCR2   DGCR6   DGCR6L   DGCR8   DMC1   DNAJB7   DNAL4   DRG1   DRICH1   DUSP18   EFCAB6   EIF3D   EIF3L   EIF4ENIF1   ELFN2   EMID1   ENTHD1   EP300   ESS2   EWSR1   FAM118A   FAM227A   FAM230A   FAM83F   FBLN1   FBXO7   FOXRED2   GAB4   GAL3ST1   GALR3   GAS2L1   GCAT   GGA1   GGT1   GGT2   GGT5   GGTLC2   GGTLC3   GNAZ   GNB1L   GP1BB   GRAMD4   GRAP2   GRK3   GSC2   GSTT1   GSTT2   GSTT2B   GTPBP1   GTSE1   GUCD1   H1-0   HDAC10   HDHD5   HIC2   HIRA   HMGXB4   HMOX1   HORMAD2   HPS4   HSCB   IFT27   IGLC1   IGLL1   IGLL5   IL17RA   IL17REL   IL2RB   INPP5J   ISX   JOSD1   KCNJ4   KCTD17   KDELR3   KIAA0930   KIAA1671   KLHDC7B   KLHL22   KREMEN1   L3MBTL2   L3MBTL2-AS1   LARGE1   LGALS1   LGALS2   LIF   LIMK2   LMF2   LRP5L   LRRC75B   LZTR1   MAFF   MAPK1   MAPK11   MAPK12   MAPK8IP2   MB   MCAT   MCHR1   MCM5   MED15   MEI1   MFNG   MGAT3   MIAT   MICAL3   MICALL1   MIEF1   MIF   MIOX   MIR130B   MIR33A   MIR659   MIRLET7A3   MIRLET7B   MLC1   MMP11   MN1   MORC2   MOV10L1   MPPED1   MPST   MRPL40   MRTFA   MTFP1   MTMR3   MYH9   MYO18B   NAGA   NCAPH2   NCF4   NDUFA6   NEFH   NF2   NFAM1   NIPSNAP1   NOL12   NPTXR   NUP50   ODF3B   OR11H1   OSBP2   OSM   P2RX6   PACSIN2   PANX2   PARVB   PARVG   PATZ1   PDGFB   PDXP   PES1   PEX26   PHETA2   PHF21B   PHF5A   PI4KA   PICK1   PIK3IP1   PIM3   PISD   PITPNB   PIWIL3   PKDREJ   PLA2G3   PLA2G6   PLXNB2   PMM1   PNPLA3   PNPLA5   POLDIP3   POLR2F   POLR3H   POTEH   PPARA   PPIL2   PPM1F   PPM1F-AS1   PPP6R2   PRAME   PRODH   PRR14L   PRR34   PRR5   PRR5-ARHGAP8   PVALB   RAB36   RABL2B   RAC2   RANBP1   RANGAP1   RASD2   RASL10A   RBFOX2   RBX1   RFPL1   RFPL1S   RFPL2   RFPL3   RFPL3S   RGL4   RHBDD3   RIBC2   RIMBP3   RIMBP3B   RIMBP3C   RNF185   RNF215   RPL3   RPS19BP1   RRP7A   RSPH14   RTCB   RTL10   RTL6   RTN4R   SAMM50   SBF1   SCARF2   SCO2   SCUBE1   SDF2L1   SEC14L2   SEC14L3   SEC14L4   SEC14L6   SELENOM   SELENOO   SEPTIN3   SEPTIN5   SERHL2   SERPIND1   SEZ6L   SF3A1   SFI1   SGSM1   SGSM3   SH3BP1   SHANK3   SHISA8   SHISAL1   SLC16A8   SLC25A1   SLC25A17   SLC25A18   SLC2A11   SLC35E4   SLC5A1   SLC5A4   SLC7A4   SMARCB1   SMC1B   SMDT1   SMTN   SNAP29   SNORD139   SNORD43   SNORD83A   SNORD83B   SNRPD3   SNU13   SOX10   SPECC1L   SREBF2   SRRD   SSTR3   ST13   SULT4A1   SUN2   SUSD2   SYCE3   SYN3   SYNGR1   TAB1   TAFA5   TANGO2   TBC1D10A   TBC1D22A   TBX1   TCF20   TCN2   TEF   TEX33   TFIP11   THAP7   THOC5   TIMP3   TMEM121B   TMEM184B   TMEM191B   TMEM191C   TMEM211   TMPRSS6   TNFRSF13C   TNRC6B   TOB2   TOM1   TOMM22   TOP3B   TPST2   TRABD   TRIOBP   TRMT2A   TRMU   TSPO   TSSK2   TST   TTC28   TTC38   TTLL1   TTLL12   TTLL8   TUBA8   TUBGCP6   TUG1   TXN2   TXNRD2   TYMP   UBE2L3   UFD1   UPB1   UPK3A   UQCR10   USP18   USP41   VPREB1   VPREB3   WBP2NL   WNT7B   XBP1   XKR3   XPNPEP3   XRCC6   YDJC   YPEL1   YWHAH   ZBED4   ZC3H7B   ZDHHC8   ZMAT5   ZNF280A   ZNF280B   ZNF70   ZNF74   ZNRF3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372216,054,691 - 51,237,518CLINVAR
Cytogenetic Map2222q11.1-13.33CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541545
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.