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Variant : CV623710 (Single allele) Homo sapiens

Symbol: CV623710
Name: Single allele
Condition: Neurodevelopmental disorder [RCV000787403]
Clinical Significance: pathogenic
Last Evaluated: 04/09/2019
Review Status: no assertion criteria provided
Related Genes: AAMP   ABCA12   ABCB6   ABI2   ACADL   ACSL3   ADAM23   ALS2   ANKAR   ANKRD44   ANKZF1   AOX1   AP1S3   ARPC2   ASIC4   ASNSD1   ATG9A   ATIC   BARD1   BCS1L   BMPR2   BOLL   BZW1   C2CD6   C2orf66   C2orf69   C2orf80   C2orf88   CARF   CASP10   CASP8   CATIP   CAVIN2   CCDC140   CCDC150   CCNYL1   CD28   CDK15   CDK5R2   CFAP65   CFLAR   CHPF   CLK1   CNOT9   CNPPD1   COL3A1   COL5A2   COQ10B   CPO   CPS1   CREB1   CRYBA2   CRYGA   CRYGB   CRYGC   CRYGD   CTDSP1   CTLA4   CXCR1   CXCR2   CYP20A1   CYP27A1   DES   DIRC1   DIRC3   DNAH7   DNAJB2   DNPEP   DYTN   EEF1B2   EPHA4   ERBB4   FAM117B   FAM124B   FAM126B   FARSB   FASTKD2   FEV   FLACC1   FN1   FTCDNL1   FZD5   FZD7   GLB1L   GLS   GMPPA   GPBAR1   GPR1   GTF3C3   GULP1   HECW2   HIBCH   HSPD1   HSPE1   ICA1L   ICOS   IDH1   IGFBP2   IGFBP5   IHH   IKZF2   INHA   INO80D   INPP1   KANSL1L   KCNE4   KCTD18   KLF7   LANCL1   MAIP1   MAP2   MARCHF4   MARS2   MDH1B   METTL21A   MFSD6   MIR26B   MIR375   MOB4   MOGAT1   MPP4   MREG   MRPL44   MSTN   MYL1   MYO1B   NAB1   NABP1   NBEAL1   NDUFB3   NDUFS1   NEMP2   NHEJ1   NIF3L1   NOP58   NRP2   OBSL1   ORC2   ORMDL1   OSGEPL1   PARD3B   PAX3   PCGEM1   PECR   PGAP1   PIKFYVE   PLCD4   PLCL1   PLEKHM3   PMS1   PNKD   PPIL3   PRKAG3   PTH2R   PTPRN   RAPH1   RESP18   RETREG2   RFTN2   RNF25   RPE   RPL37A   RUFY4   SATB2   SCG2   SERPINE2   SF3B1   SGO2   SGPP2   SLC11A1   SLC23A3   SLC39A10   SLC40A1   SLC4A3   SMARCAL1   SPAG16   SPATS2L   SPEG   STAT1   STAT4   STK11IP   STK16   STK17B   STK36   STRADB   SUMO1   TMBIM1   TMEFF2   TMEM169   TMEM198   TMEM237   TNP1   TNS1   TRAK2   TTLL4   TUBA4A   TYW5   UNC80   USP37   VIL1   VWC2L   WDFY1   WDR12   WDR75   WNT10A   WNT6   XRCC5   ZDBF2   ZFAND2B   ZNF142  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372188,926,928 - 225,298,653CLINVAR
Cytogenetic Map22q32.1-36.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14698285
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-01-14
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.