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Variant : CV623743 (Single allele) Homo sapiens

Symbol: CV623743
Name: Single allele
Condition: Neurodevelopmental disorder [RCV000787436]
Clinical Significance: uncertain significance
Last Evaluated: 04/09/2019
Review Status: no assertion criteria provided
Related Genes: ABLIM3   ACOT12   ACSL6   ACTBL2   ADAMTS12   ADAMTS19   ADAMTS6   ADGRV1   ADRB2   AFAP1L1   AFF4   AGGF1   AGXT2   ALDH7A1   AMACR   ANKDD1B   ANKH   ANKHD1   ANKHD1-EIF4EBP3   ANKRA2   ANKRD31   ANKRD34B   ANKRD55   ANXA2R   AP3B1   AP3S1   APBB3   APC   ARAP3   ARHGAP26   ARHGEF28   ARHGEF37   ARL14EPL   ARL15   ARRDC3   ARSB   ARSK   ATG10   ATG12   ATP6AP1L   BASP1   BDP1   BHMT   BHMT2   BRD8   BRIX1   BTF3   C1QTNF3   C5orf15   C5orf17   C5orf22   C5orf24   C5orf34   C5orf46   C5orf51   C5orf63   C5orf64   C6   C7   C9   CAMK4   CAMLG   CAPSL   CARD6   CARTPT   CAST   CATSPER3   CCDC112   CCDC125   CCDC152   CCL28   CCNB1   CCNH   CCNI2   CCNO   CD14   CD180   CDC20B   CDC23   CDC25C   CDC42SE2   CDH10   CDH12   CDH18   CDH6   CDH9   CDK7   CDKL3   CDKN2AIPNL   CDO1   CENPH   CENPK   CEP120   CERT1   CETN3   CHD1   CHSY3   CKMT2   CMYA5   COMMD10   COX7C   CPLANE1   CRHBP   CSF1R   CSF2   CSNK1A1   CSNK1G3   CTNNA1   CTXN3   CWC27   CXCL14   CXXC5   CYSTM1   DAB2   DCANP1   DCP2   DDX4   DDX46   DELE1   DEPDC1B   DHFR   DHX29   DIAPH1   DIMT1   DMGDH   DMXL1   DNAJC18   DNAJC21   DND1   DPYSL3   DROSHA   DTWD2   ECSCR   EDIL3   EFNA5   EGFLAM   EGFLAM-AS2   EGFLAM-AS4   EGR1   EIF4EBP3   ELL2   ELOVL7   EMB   ENC1   EPB41L4A   ERAP1   ERAP2   ERBIN   ERCC8   ESM1   ETF1   F2R   F2RL1   F2RL2   FAM13B   FAM151B   FAM169A   FAM170A   FAM172A   FAM174A   FAM53C   FAM81B   FBN2   FBXL17   FBXL7   FBXO38   FBXO4   FCHO2   FCHSD1   FEM1C   FER   FGF1   FGF10   FNIP1   FOXD1   FST   FSTL4   FTMT   FYB1   GAPT   GCNT4   GDF9   GDNF   GDNF-AS1   GFM2   GFRA3   GHR   GIN1   GLRX   GNPDA1   GOLPH3   GPBP1   GPR150   GPR151   GPX8   GRAMD2B   GRPEL2   GRXCR2   GTF2H2   GTF2H2C   GZMA   GZMK   HAPLN1   HARS1   HARS2   HBEGF   HCN1   HDAC3   HEXB   HINT1   HMGCR   HMGCS1   HMGXB3   HMHB1   HNRNPA0   HOMER1   HSD17B4   HSPA4   HSPA9   HSPB3   HTR1A   HTR4   IGIP   IK   IL13   IL17B   IL3   IL31RA   IL4   IL5   IL6ST   IL7R   IL9   IPO11   IQGAP2   IRF1   ISL1   ISOC1   ITGA1   ITGA2   JADE2   JAKMIP2   JMY   KCNN2   KCTD16   KDM3B   KIAA0825   KIF20A   KIF2A   KIF3A   KLHL3   LARS1   LEAP2   LECT2   LHFPL2   LIFR   LIX1   LMBRD2   LMNB1   LNPEP   LOX   LRRC70   LRRTM2   LUCAT1   LVRN   LYRM7   LYSMD3   MACIR   MACROH2A1   MAN2A1   MAP1B   MAP3K1   MARCHF11   MARCHF3   MARVELD2   MAST4   MATR3   MBLAC2   MCC   MCCC2   MCIDAS   MCTP1   MEF2C   MEGF10   MIER3   MINAR2   MIR143   MIR145   MIR378A   MIR449A   MIR449B   MIR9-2   MOCS2   MROH2B   MRPS27   MRPS30   MRPS36   MSH3   MTMR12   MTREX   MTRNR2L2   MTX3   MYO10   MYOT   MZB1   NADK2   NAIP   NCRUPAR   NDFIP1   NDUFA2   NDUFAF2   NDUFS4   NEUROG1   NIPBL   NLN   NME5   NNT   NPR3   NR2F1   NR3C1   NREP   NRG2   NSA2   NUDT12   NUP155   OCLN   OSMR   OTP   OTULIN   OXCT1   P4HA2   PAIP1   PAIP2   PAM   PARP8   PART1   PCBD2   PCDH1   PCDH12   PCDHA1   PCDHA10   PCDHA11   PCDHA12   PCDHA13   PCDHA2   PCDHA3   PCDHA4   PCDHA5   PCDHA6   PCDHA7   PCDHA8   PCDHA9   PCDHA@   PCDHAC1   PCDHAC2   PCDHB1   PCDHB10   PCDHB11   PCDHB12   PCDHB13   PCDHB14   PCDHB15   PCDHB16   PCDHB2   PCDHB3   PCDHB4   PCDHB5   PCDHB6   PCDHB7   PCDHB8   PCDHB9   PCDHB@   PCDHGA1   PCDHGA10   PCDHGA11   PCDHGA12   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGA6   PCDHGA7   PCDHGA8   PCDHGA9   PCDHGB1   PCDHGB2   PCDHGB3   PCDHGB4   PCDHGB5   PCDHGB6   PCDHGB7   PCDHGC3   PCDHGC4   PCDHGC5   PCSK1   PCYOX1L   PDE4D   PDE6A   PDE8B   PDGFRB   PDLIM4   PDZD2   PELO   PFDN1   PGGT1B   PHAX   PIK3R1   PITX1   PJA2   PKD2L2   PLAC8L1   PLCXD3   PLK2   PLPP1   POC5   POLK   POLR3G   POU4F3   POU5F2   PPARGC1B   PPIC   PPIP5K2   PPP2CA   PPP2R2B   PPWD1   PRDM6   PRDM9   PRELID2   PRKAA1   PRLR   PROB1   PRR16   PRRC1   PSD2   PTCD2   PTGER4   PURA   RAB3C   RAD1   RAD17   RAD50   RAI14   RANBP3L   RAPGEF6   RASA1   RASGRF2   RBM27   REEP2   REEP5   RELL2   RETREG1   RFESD   RGMB   RGS7BP   RHOBTB3   RICTOR   RIOK2   RNF14   RNF180   RPL37   RPS23   RXFP3   S100Z   SAR1B   SCAMP1   SCARNA18   SCGB3A2   SEC24A   SELENOP   SEMA6A   SEPTIN8   SERF1A   SERF1B   SERINC5   SETD9   SGTB   SH3RF2   SH3TC2   SHISAL2B   SHROOM1   SIL1   SKP1   SKP2   SLC12A2   SLC1A3   SLC22A4   SLC22A5   SLC23A1   SLC25A2   SLC25A46   SLC25A48   SLC26A2   SLC27A6   SLC30A5   SLC35A4   SLC38A9   SLC45A2   SLC4A9   SLCO4C1   SLCO6A1   SLF1   SMAD5   SMIM15   SMN1   SMN2   SNCAIP   SNHG4   SNX18   SNX2   SNX24   SOWAHA   SPATA24   SPATA9   SPEF2   SPINK1   SPINK13   SPINK14   SPINK5   SPINK6   SPINK7   SPINK9   SPOCK1   SPRY4   SPZ1   SRA1   SREK1   SREK1IP1   SRFBP1   SRP19   SSBP2   ST8SIA4   STARD4   STING1   STK32A   SUB1   SV2C   TAF7   TAF9   TARS1   TBCA   TCERG1   TCF7   TENT2   TEX43   TGFBI   THBS4   TICAM2   TIFAB   TIGD6   TMCO6   TMED7   TMED7-TICAM2   TMEM161B   TMEM167A   TMEM171   TMEM174   TMEM232   TMEM267   TNFAIP8   TNPO1   TRAPPC13   TRIM23   TRIM36   TRPC7   TSLP   TSSK1B   TTC23L   TTC33   TTC37   TXNDC15   UBE2B   UBE2D2   UGT3A1   UGT3A2   UQCRQ   UTP15   VCAN   VDAC1   VTRNA1-1   VTRNA1-2   VTRNA1-3   VTRNA2-1   WDR36   WDR41   WDR55   WDR70   WNT8A   XRCC4   YIPF5   YTHDC2   ZBED3   ZCCHC10   ZCCHC9   ZFR   ZFYVE16   ZMAT2   ZNF131   ZNF366   ZNF474   ZNF608   ZNF622   ZSWIM6  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37514,685,137 - 149,511,942CLINVAR
Cytogenetic Map55p15.2-q32CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14698291
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-11-17
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.