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Variant : CV623747 (Single allele) Homo sapiens

Symbol: CV623747
Name: Single allele
Condition: Neurodevelopmental disorder [RCV000787440]
Clinical Significance: pathogenic
Last Evaluated: 04/09/2019
Review Status: no assertion criteria provided
Related Genes: ACE2   ACOT9   ADGRG2   AMELX   ANOS1   AP1S2   APOO   ARHGAP6   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ARX   ASB11   ASB9   ATP6AP2   ATXN3L   BCLAF3   BCOR   BEND2   BMX   CA5B   CASK   CBLL2   CDK16   CDKL5   CFAP47   CHST7   CLCN4   CLTRN   CNKSR2   CTPS2   CXorf21   CXorf38   CXorf58   CYBB   DCAF8L1   DCAF8L2   DDX3X   DDX53   DIPK2B   DMD   DUSP21   DYNLT3   EFHC2   EGFL6   EIF1AX   EIF2S3   FAM47A   FAM47B   FAM47C   FAM9A   FAM9B   FAM9C   FANCB   FRMPD4   FTHL17   FTHL18   FUNDC1   GEMIN8   GK   GLRA2   GPM6B   GPR143   GPR34   GPR82   GRPR   GYG2   H2AP   HCCS   IL1RAPL1   INE1   INE2   JADE3   KDM6A   KLHL15   KLHL34   KRBOX4   LANCL3   MAGEB1   MAGEB10   MAGEB16   MAGEB17   MAGEB18   MAGEB2   MAGEB3   MAGEB4   MAGEB5   MAGEB6   MAOA   MAOB   MAP3K15   MAP7D2   MBTPS2   MED14   MID1   MID1IP1   MIR221   MIR222   MOSPD2   MPC1L   MSL3   MXRA5   NDP   NDUFB11   NHS   NLGN4X   NR0B1   NYX   OFD1   OTC   PCYT1B   PDHA1   PDK3   PHEX   PHKA2   PIGA   PIR   PNPLA4   POLA1   PPEF1   PRDX4   PRKX   PRPS2   PRRG1   PTCHD1   PUDP   RAB9A   RAI2   RBBP7   RBM10   REPS2   RGN   RP2   RPGR   RPS6KA3   RS1   S100G   SAT1   SCML1   SCML2   SH3KBP1   SHROOM2   SLC9A7   SMPX   SMS   SRPX   STS   SUPT20HL1   SUPT20HL2   SYAP1   SYTL5   TAB3   TBL1X   TCEANC   TLR7   TLR8   TMEM47   TMSB4X   TRAPPC2   TSPAN7   TXLNG   UBA1   USP11   USP9X   VCX   VCX2   VCX3A   VCX3B   VEGFD   WWC3   XG   XK   YY2   ZFX   ZNF674   ZRSR2  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37X1 - 47,140,860CLINVAR
Cytogenetic MapXXp22.33-11.23CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14698292
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE


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