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Variant : CV595758 (GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3) Homo sapiens

Symbol: CV595758
Name: GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3
Condition: not provided [RCV000741058]
Clinical Significance: pathogenic
Last Evaluated: 01/05/2017
Review Status: no assertion criteria provided
Related Genes: AAR2   ABHD12   ABHD16B   ACOT8   ACSS1   ACSS2   ACTL10   ACTR5   ADA   ADAM33   ADIG   ADNP   ADRA1D   ADRM1   AHCY   ANGPT4   ANKEF1   ANKRD60   AP5S1   APCDD1L   APMAP   ARFGAP1   ARFGEF2   ARFRP1   ARHGAP40   ASIP   ASXL1   ATP5F1E   ATP9A   ATRN   AURKA   AVP   B4GALT5   BANF2   BCAS1   BCAS4   BCL2L1   BFSP1   BHLHE23   BIRC7   BLCAP   BMP2   BMP7   BPI   BPIFA1   BPIFA2   BPIFA3   BPIFB1   BPIFB2   BPIFB3   BPIFB4   BPIFB6   BTBD3   C20orf141   C20orf144   C20orf173   C20orf194   C20orf197   C20orf202   C20orf203   C20orf27   C20orf85   C20orf96   CABLES2   CASS4   CBFA2T2   CBLN4   CCM2L   CCN5   CD40   CD93   CDC25B   CDH22   CDH26   CDH4   CDK5RAP1   CDS2   CEBPB   CENPB   CEP250   CFAP61   CHD6   CHGB   CHMP4B   CHRNA4   CNBD2   COL20A1   COL9A3   COMMD7   COX4I2   CPNE1   CPXM1   CRLS1   CRNKL1   CSE1L   CSNK2A1   CST1   CST11   CST2   CST3   CST4   CST5   CST7   CST8   CST9   CST9L   CSTF1   CSTL1   CTCFL   CTNNBL1   CTSA   CTSZ   CYP24A1   DBNDD2   DDRGK1   DDX27   DEFB115   DEFB116   DEFB118   DEFB119   DEFB121   DEFB123   DEFB124   DEFB125   DEFB126   DEFB127   DEFB128   DEFB129   DEFB132   DHX35   DIDO1   DLGAP4   DNAJC5   DNMT3B   DNTTIP1   DOK5   DPH3P1   DPM1   DSN1   DSTN   DTD1   DUSP15   DYNLRB1   DZANK1   E2F1   EBF4   EDEM2   EDN3   EEF1A2   EFCAB8   EIF2S2   EIF6   ELMO2   EMILIN3   ENTPD6   EPB41L1   EPPIN   EPPIN-WFDC6   ERGIC3   ESF1   EYA2   FAM110A   FAM209A   FAM209B   FAM210B   FAM217B   FAM83C   FAM83D   FASTKD5   FERMT1   FITM2   FKBP1A   FLRT3   FNDC11   FOXA2   FOXS1   GATA5   GCNT7   GDAP1L1   GDF5   GDF5-AS1   GFRA4   GGT7   GGTLC1   GHRH   GID8   GINS1   GMEB2   GNAS   GNAS-AS1   GNRH2   GPCPD1   GSS   GTSF1L   GZF1   HAO1   HAR1A   HAR1B   HCK   HELZ2   HM13   HNF4A   HRH3   HSPA12B   ID1   IDH3B   IFT52   INSM1   ISM1   ITCH   ITPA   JAG1   JPH2   KAT14   KCNB1   KCNG1   KCNK15   KCNQ2   KCNS1   KIAA1755   KIF16B   KIF3B   KIZ   L3MBTL1   LAMA5   LAMP5   LBP   LIME1   LINC01597   LINC01711   LKAAEAR1   LPIN3   LRRN4   LSM14B   LZTS3   MACROD2   MAFB   MANBAL   MAP1LC3A   MAPRE1   MATN4   MAVS   MC3R   MCM8   MGME1   MIR1-1   MIR1-1HG   MIR103A2   MIR1292   MIR133A2   MIR296   MIR298   MIR499A   MKKS   MMP24   MMP9   MOCS3   MRGBP   MROH8   MRPS26   MTG2   MTRNR2L3   MYBL2   MYH7B   MYL9   MYLK2   MYT1   NAA20   NANP   NAPB   NCOA3   NCOA5   NCOA6   NDRG3   NDUFAF5   NECAB3   NELFCD   NEURL2   NFATC2   NFS1   NINL   NKAIN4   NKX2-2   NKX2-4   NNAT   NOL4L   NOP56   NPBWR2   NPEPL1   NRSN2   NSFL1C   NTSR1   NXT1   OCSTAMP   OGFR   OPRL1   OSBPL2   OSER1   OTOR   OVOL2   OXT   PABPC1L   PAK5   PANK2   PARD6B   PAX1   PCED1A   PCIF1   PCK1   PCMTD2   PCNA   PCNA-AS1   PCSK2   PDRG1   PDYN   PET117   PFDN4   PHACTR3   PHF20   PI3   PIGT   PIGU   PKIG   PLAGL2   PLCB1   PLCB4   PLCG1   PLTP   PMEPA1   POFUT1   POLR3F   PPDPF   PPP1R16B   PPP1R3D   PRELID3B   PREX1   PRND   PRNP   PROCR   PROKR2   PRPF6   PSMA7   PSMF1   PTGIS   PTK6   PTPN1   PTPRA   PTPRT   PXMP4   PYGB   R3HDML   RAB22A   RAB5IF   RAD21L1   RAE1   RALGAPA2   RALGAPB   RALY   RASSF2   RBBP8NL   RBBP9   RBCK1   RBL1   RBM12   RBM38   RBM39   RBPJL   REM1   RGS19   RIMS4   RIN2   RIPOR3   RNF114   RNF24   ROMO1   RPN2   RPRD1B   RPS21   RRBP1   RSPO4   RTEL1   RTF2   SALL4   SAMD10   SAMHD1   SCAND1   SCP2D1   SCP2D1-AS1   SCRT2   SDC4   SDCBP2   SEC23B   SEL1L2   SEMG1   SEMG2   SERINC3   SGK2   SHLD1   SIGLEC1   SIRPA   SIRPB1   SIRPB2   SIRPD   SIRPG   SLA2   SLC12A5   SLC13A3   SLC17A9   SLC23A2   SLC24A3   SLC2A10   SLC2A4RG   SLC32A1   SLC35C2   SLC4A11   SLC52A3   SLC9A8   SLCO4A1   SLPI   SLX4IP   SMOX   SNAI1   SNAP25   SNHG11   SNPH   SNRPB   SNRPB2   SNTA1   SNX21   SNX5   SOGA1   SOX12   SOX18   SPAG4   SPATA2   SPATA25   SPEF1   SPINT3   SPINT4   SPO11   SPTLC3   SRC   SRMS   SRSF6   SRXN1   SS18L1   SSTR4   STAU1   STK35   STK4   STMN3   STX16   SULF2   SUN5   SYCP2   SYNDIG1   SYS1   TAF4   TASP1   TBC1D20   TCEA2   TCF15   TCFL5   TFAP2C   TGIF2   TGIF2-RAB5IF   TGM2   TGM3   TGM6   THBD   TLDC2   TM9SF4   TMC2   TMEM189   TMEM189-UBE2V1   TMEM230   TMEM239   TMEM74B   TMX4   TNFRSF6B   TNNC2   TOMM34   TOP1   TOX2   TP53INP2   TP53RK   TP53TG5   TPD52L2   TPX2   TRERNA1   TRIB3   TRMT6   TRPC4AP   TSHZ2   TTI1   TTLL9   TTPAL   TUBB1   UBE2C   UBE2V1   UBOX5   UCKL1   UQCC1   VAPB   VPS16   VSTM2L   VSX1   WFDC10A   WFDC10B   WFDC11   WFDC12   WFDC13   WFDC2   WFDC3   WFDC5   WFDC6   WFDC8   WFDC9   XKR7   XRN2   YTHDF1   YWHAB   ZBP1   ZBTB46   ZCCHC3   ZFP64   ZGPAT   ZHX3   ZMYND8   ZNF133   ZNF217   ZNF334   ZNF335   ZNF337   ZNF341   ZNF343   ZNF512B   ZNF831   ZNF840P   ZNFX1   ZSWIM1   ZSWIM3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372063,244 - 62,948,788CLINVAR
Cytogenetic Map2020p13-q13.33CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14356432
Created: 2019-02-12
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.