SNPMiner Trials (Home Page)
Report for Mutation V326L
 Developed by Shray Alag, 2020.
SNP Clinical Trial Gene 
There is one clinical trial. 
Clinical Trials
      RSH/Smith-Lemli-Opitz syndrome (SLOS) is one that causes mental retardation. It is common in
      the Caucasian population but rare in African American and African black populations. It has
      been shown that SLOS is caused by a specific defect in DHCR7, an enzyme used in cholesterol
      metabolism. Studies have already been done to determine the frequency of the SLOS-causing
      mutations in various geographic Caucasian populations. This study will investigate the
      frequency of the DHCR7 mutations in the African American population. If the frequency
      observed suggests that SLOS cases are not being identified in this ethnic group, the study
      will provide the rationale for future studies to identify these patients.
      The sample size will be 1,600. The study population will consist of archived biological
      specimens in the form of newborn screening blood spots from two newborn screening centers,
      one in Maryland and one in Pennsylvania. Subjects will be of African American ethnicity,
      including blacks of African, Caribbean, and Central American descent.
      Genomic DNA will be extracted from blood spots and screened for the six common SLOS
      mutations. If SLOS syndrome is found, followup will be attempted for the Maryland samples
      (the Pennsylvania samples will be totally anonymous).
    
In these Caucasian populations, the most common
      mutations (IVS8-1G>C, W151X, V326L, R352W, R404C and T93M) account for 60% of SLOS mutant
      alleles. --- V326L --- 
HPO Nodes
Cleft palate 
Genes 779
LETM1  ARID1B  RPL18  MSX2  GLI3  ZSWIM6  ORC1  RIPK4  TP63  MBTPS2  TP63  MYH3  PIGL  TGIF1  GLI3  PHGDH  SLC18A3  WDPCP  TMEM67  C2CD3  ZMPSTE24  INPPL1  COL2A1  MIR140  DLL3  FGF8  TXNL4A  PTCH2  TAC3  GNAO1  SLC2A10  AMER1  ASXL1  MKS1  FTO  PIGV  TBX1  DHCR24  BPNT2  RPS7  CEP290  HOXD13  EYA1  KIAA0586  STAC3  HIRA  SIX1  POLR1A  LARGE1  MCTP2  WNT4  COL11A1  TCTN2  DOK7  CHRND  KCNH1  COL11A1  BUB1B  NECTIN1  ESS2  GLI2  COL2A1  CDON  KISS1R  SPEG  SATB2  SF3B4  CHRNG  SNRPB  YAP1  ARVCF  ATP6V1B2  B3GLCT  DGCR6  COL4A1  PIGV  B9D2  ATRX  PIEZO2  SH2B1  CHST14  JMJD1C  FKTN  CEP41  ARHGAP29  FGF17  SMAD3  SUFU  COL9A3  SOX2  IRF6  CDC45  SLC25A22  SMARCA4  RPGRIP1L  BUB1B  FLNB  FAM20C  FOXC2  RPS26  INPP5E  RECQL4  DUSP6  DLL1  KRAS  ARCN1  SIX3  POLR1C  SIX3  FANCD2  POU1F1  NODAL  CHD7  IGBP1  BRCA1  WDR35  ANOS1  FLNB  SEPTIN9  LETM1  MAP2K2  WHCR  POMT2  GREB1L  KRAS  RAI1  ITGA8  GATA1  ARID1B  CCDC141  GNAI3  GATA3  CC2D2A  DDX59  MEIS2  GPC4  HSPG2  CDH1  DLG1  FGFR1  HESX1  RPS23  BMP4  DUSP6  DGCR8  OTX2  HES7  FANCL  LMNA  RBM10  SMARCC2  COL11A2  MASP1  FOXE1  POMT1  PLCB4  MAP2K1  ESCO2  COL2A1  RAD21  MAFB  ARX  SOX9  SLC26A2  POLR1D  ARHGAP31  IFT140  RPS19  SLC35D1  GPC3  DONSON  TRIM8  ALX3  STAT3  SETD5  TCOF1  ALX1  CDC45  HYLS1  TBR1  FGFR2  SLC35D1  SUMO1  PTDSS1  RAD51C  TWIST1  RB1  DDX59  G6PC3  CSPP1  ACTG2  MID1  RPL35A  OTX2  SMS  SON  PDE6D  PAX3  MYH3  NSMF  GAS1  KMT2D  RFWD3  LFNG  CDT1  RAP1A  LBR  HNRNPK  FZD2  ATN1  SIK1  PIGL  TGFBR1  COL11A2  HESX1  ORC1  GNRH1  FANCI  MKKS  DVL3  NSD2  EBP  KIF7  EPG5  FLNA  MAD2L2  HYAL1  FGFR2  SEMA3A  ORC4  TMEM216  SCN2A  OFD1  RPL26  PIGY  INTU  FANCA  FGFRL1  TUBB  KISS1R  POLR1D  SLX4  RPGRIP1L  PHGDH  CHRNA1  TRIP13  STAG2  B3GLCT  TAPT1  KIAA0556  CEP55  RAP1B  B4GAT1  SIX5  MKS1  HSPG2  TMCO1  FGF20  FLNA  RPS10  TGFBR2  CDH1  KMT2D  FLNA  PALB2  GMNN  TGFB3  MESP2  B3GALT6  HS6ST1  RPL26  HDAC8  SPRY4  TACR3  GRHL3  COL11A1  B3GALT6  SMOC1  COG1  GRHL3  KMT2C  PROKR2  PTPN11  EFNB1  XYLT1  DDX3X  UFD1  KANSL1  SMAD4  NBN  MYMK  RPS15A  MYH3  KAT6A  ZNF469  CCDC141  WASHC5  B4GALT7  COLEC10  COL2A1  SOX9  FLNB  PLXND1  COL11A2  CASK  OFD1  BUB1  CENPF  SHH  FGFR1  RPS29  ESCO2  GLI2  NSMF  ZIC2  TRRAP  EYA1  PIGO  CDH11  POMT2  BRAF  POLA1  GJA1  TP63  TCTN2  MEGF10  EXOC6B  POLR1C  DCC  NID1  B9D1  KDM6A  PQBP1  CHST3  CRPPA  RPS19  BRCA2  FLNA  TFAP2A  PRRX1  SCARF2  EDN1  TBCE  SPECC1L  PGAP3  GPC4  PQBP1  EDNRA  WNT7A  SMARCB1  IRF6  KIF7  FKRP  NEDD4L  GNAI3  COL9A2  FOXE1  IRF6  HOXA2  GRHL3  TGDS  ARID2  POMGNT1  PEX2  TMCO1  PNKP  FRAS1  COL2A1  FGFR1  SF3B4  FLII  MSX2  FGD1  REV3L  FKRP  IL17RD  FGF17  USP9X  NPHP1  FANCC  COLEC11  FKBP14  POMT2  STAMBP  RPS17  PROKR2  TGFBR2  NEB  RECQL4  GLI2  MYMK  CDH11  EYA1  UBE2T  B3GAT3  PTCH1  SELENOI  STXBP1  TBC1D24  MAPRE2  EIF2S3  BCOR  NIPBL  PGAP2  RAI1  ANOS1  IQSEC2  FLNB  TTN  CDON  FLRT3  MUSK  TUBB  DHCR7  KCNN3  PROKR2  TCTN3  TBX1  TMEM216  TMEM231  CC2D2A  IRF6  KCNA1  ERCC4  KIFBP  RIPK4  RUNX2  SOX10  SMC3  COL11A1  DISP1  SOX4  SPRY4  GLI3  CDKL5  FANCF  RPL15  FOXA2  ADA2  YAP1  CDH1  DGCR2  IL1B  PORCN  SEC23A  CILK1  BRAF  KIF7  DHCR24  PLCB4  CTBP1  GDF6  UBB  PROK2  LARGE1  PRDM5  COL11A2  NECTIN1  SOX9  PSAT1  PIGW  GNRHR  BMPER  TMEM107  HS6ST1  TCTN3  FAM20C  IRF6  RUNX2  TBX4  SEC24C  RPL31  FANCG  MEOX1  ARID2  TGIF1  ALX1  TWIST1  RIPPLY2  RPS26  ATR  MAPRE2  RPS27  DLX4  MED12  GJB2  COMT  ZSWIM6  GPC3  SOX11  TDGF1  RPL11  TBX22  IL1RN  NUP88  TACR3  MEIS2  SPECC1L  TBX2  FGFR3  DVL3  ARID1A  PIEZO2  FGFR1  NUP107  COL9A1  CHN1  PIEZO2  BGN  WNT5A  FANCB  FLNA  KMT2A  RAD51  TCOF1  TBX15  COL2A1  SMCHD1  GP1BB  POLR3A  WDR11  BCOR  KIAA0753  CD96  NOTCH2  SEMA3E  RPL5  COL2A1  AMMECR1  NSMF  SIX1  NEK1  RPGRIP1  PTCH1  ASXL1  OFD1  TP63  CTNND1  XRCC2  FOXC2  B3GALNT2  RPGRIP1L  RIPK4  RAPSN  NIPBL  CHSY1  PIEZO2  FKTN  HAAO  ZEB2  CEP120  TBX22  RPL5  STAC3  AHI1  LMX1B  TMEM237  COL11A1  TGFB2  RREB1  POMK  GDF6  HESX1  RPL35  GJA1  PSAT1  MYT1  CCDC22  CTCF  ALX3  GDF3  ALG3  USP9X  LMNA  FGFR2  CEP290  CDC6  TMEM216  SLC10A7  SMARCE1  CPLANE1  TP63  SLC39A13  BMPER  MBTPS2  TBX22  DYNC2H1  FGFR1  DPF2  LOXL3  TP63  MSX1  RPL11  FLNB  SUFU  OTX2  KIF7  PROK2  MEOX1  SMS  VAX1  WASHC5  POMGNT2  UBB  CHRNG  FGF8  SMCHD1  FGFR2  COL2A1  DAG1  PIGQ  FGF9  CHRNG  TBX1  PROP1  SMC3  SATB2  NBN  EFTUD2  FGFR1  HDAC8  GNB1  COL2A1  BMP4  SETD5  SLC26A2  PIGP  MKS1  AMER1  RECQL4  GMNN  GRHL3  HS6ST1  ERCC5  DEAF1  KDM6A  NEUROD2  MAP3K7  PGAP2  WNT4  OFD1  GNB1  PTCH1  SIX1  ORC6  BUB3  COL11A1  TWIST1  COL25A1  FANCE  FANCM  MUSK  BIN1  KDM6A  TCTN3  MSX1  LIG4  DHODH  FEZF1  COL2A1  SMOC1  TP63  FAM149B1  RXYLT1  ARID1B  WDR11  FLNA  PIGN  COL2A1  ARNT2  FOXH1  SEPTIN9  PIGN  RBM10  KAT6B  SMAD4  EARS2  EDN1  CHD7  DLX4  DHODH  TTC37  ACTB  NSD2  WDR35  TP63  NUP107  EFTUD2  FGFR2  PEX5  PIGL  FGFR1  CHD7  LHX4  CRKL  CPLX1  HYLS1  CEP120  SLC26A2  RNU4ATAC  NSUN2  KLHL41  EIF4A3  TMEM67  TRPV4  XYLT1  MED25  PIGO  RYR1  NELFA  ZMPSTE24  MYOD1  POMT1  SLC26A2  FGFR2  RPL27  DHCR7  SHH  SMC1A  PGM1  CHD7  TMEM231  RET  RPS24  PROKR2  FLNB  PEX7  RAD21  KLHL7  GMPPB  COL11A1  GLI2  TBX1  ECEL1  MAPK1  CPLANE1  CYP26C1  FGF8  PHF8  SNRPB  KCNJ2  WNT3  NEK1  ANKRD11  FGFR2  TBX6  PGAP3  SLC26A2  TGFBR1  DVL1  SLC25A19  KCNK9  KISS1  PPP3CA  KIF14  NECTIN1  NFASC  COL11A2  SEMA3E  IRF6  FOXP2  TSR2  BCR  CHD7  BRIP1  FANCL  SOX3  B3GALT6  FGFR2  SON  CEP57  COL11A1  TBX1  RPS28  FGD1  TGDS  B9D2  RBM8A  SMAD3   hr>
Hypertelorism 
Genes 904
LETM1  FAT4  YWHAE  ZSWIM6  ZMYND11  TRIM37  MYPN  PIGL  FRAS1  GPC4  PHGDH  SLC18A3  STAT3  ANKH  WDPCP  WDPCP  PAX3  PAX3  FOXC1  LRP4  MYH3  FAT4  ZMPSTE24  PEPD  MIR140  CACNA1G  TXNL4A  ROR2  CTU2  PTCH2  TAC3  TFAP2B  WDR73  ACTG1  GJA1  SLC2A10  ASXL1  SALL4  MKS1  PIGV  TBX1  TMEM67  CEP290  PTDSS1  ALG8  HIRA  ALDH6A1  ALG9  SOST  MCTP2  COL11A1  TRNF  DOK7  CHRND  KCNH1  ABCC9  ALDH18A1  EXT2  EFEMP2  SUFU  KISS1R  GATA6  RSPRY1  KAT6B  STRADA  LZTR1  CHRNG  BCL11B  NEB  PSMD12  NSUN2  RAI1  SEC23A  ARVCF  ATP6V1B2  RLIM  B3GLCT  PIGV  CHD3  B9D2  ATRX  SH2B1  CHST14  JMJD1C  DOCK6  ACTB  ND5  HELLS  HSD17B4  NF1  NONO  SMAD3  SHROOM4  TGFBR1  TTC37  PDHX  BLNK  BMP2  SPRED1  KIAA0586  TP53RK  MAT2A  ATP6V0A2  BUB1B  FLNB  FAM20C  DNMT3A  ZIC2  FLNA  RYR1  MPLKIP  ERMARD  FREM1  FOXE3  RUSC2  MAF  RECQL4  MOCS1  SMAD4  DUSP6  ALX4  NGLY1  DNMT3B  ACTG1  DCHS1  SHOC2  LAGE3  DPF2  FGFR1  AUTS2  FANCD2  ACY1  PEX6  GLI3  QRICH1  CHD7  CHD4  LZTR1  FGFR1  POC1A  BRCA1  PPP2R1A  MAP2K1  ZIC3  ANOS1  FLNB  DVL1  LETM1  MAP2K2  WHCR  FGFR2  GREB1L  KRAS  RAI1  ITGA8  AVP  MTOR  ERF  DVL3  CC2D2A  DDX59  GPC4  FGFR2  HSPG2  CDH1  SEMA5A  ALG9  RERE  TMEM94  CCBE1  FANCL  ALG13  TBL1XR1  PACS1  CENPJ  EZH2  CPLX1  LMNA  COX3  EED  RBM10  IL1RAPL1  MRAS  MASP1  POLR3A  NF1  GTF2E2  MAP2K1  PIGA  SMAD3  ESCO2  ZBTB18  ALDH18A1  TWIST1  ITGA3  NKX3-2  FBLN5  COX2  SOX9  SLC26A2  POLR1D  FREM2  AFF4  FLNA  TFAP2B  GPC3  ALX3  MED13L  ACTB  TCOF1  PTEN  ALX1  MAP2K2  ACTL6B  TBR1  FGFR2  DICER1  ALG1  GATAD2B  TBCD  PTDSS1  RAD51C  TWIST1  FREM1  DDX59  ERF  NXN  CSPP1  ACY1  MID1  EPG5  SMS  SETD2  SOST  SOS2  ERCC2  PDE6D  RASA2  TXNL4A  MYH3  NSMF  PSMD12  ATP6V0A2  NRAS  KIF15  SH3PXD2B  SOS1  RFWD3  TBX15  ATRX  TGFBR2  PTEN  RAF1  LBR  PTH1R  FZD2  BMPR1A  FGFR3  TRNQ  RPS6KA3  PIGL  TGFBR1  SIM1  FIBP  HERC1  GNRH1  FANCI  PHIP  RPGRIP1L  PRPS1  ZBTB18  ZIC1  KIAA1109  DVL3  NSD2  EBP  KIF7  LRRC8A  CCBE1  COLEC10  EPG5  PEX6  FLNA  MAD2L2  MRPS14  FGFR2  LMBR1  BRCA1  LRPPRC  CHST3  ACTB  OFD1  MYH11  FGF3  PIGY  WDR4  FGF10  INTU  FANCA  VSX1  LBR  FGFRL1  SLX4  MTOR  PHGDH  CHRNA1  B3GLCT  DPM1  TAPT1  KIAA0556  CEP55  CC2D2A  MKS1  TMCO1  FGF20  FLNA  OSGEP  PYCR1  KMT2A  TGFBR2  FLCN  FLNA  PALB2  SMC1A  TGFB3  SMG9  ELN  IL11RA  NALCN  BRAF  SLC29A3  UMPS  KIF7  PIK3CA  ND6  FOXP1  DSE  PTCH1  COG1  PTPN11  SKI  NOTCH3  GLI3  EFNB1  KBTBD13  LOX  UFD1  PALB2  CAMTA1  ABCD4  SNAP29  WASHC5  B4GALT7  CHST3  COLEC10  BPTF  SOX9  COL11A2  ATP6V1A  OFD1  LRP2  CENPF  RAF1  ESCO2  EHMT1  TAF1  NF1  FZD2  MMP2  TRRAP  PIGO  SLC25A24  TPRKB  CDH11  SLC45A1  LRRC8A  BRAF  PPP1CB  TCTN2  CDCA7  KCNH1  POLR1C  HNRNPH2  FGFR3  DCHS1  ITGA8  B9D1  ERCC3  CNTN1  CD79A  CDK10  CHST3  RPS19  HELLS  LRP4  BRCA2  ANKH  FLNA  TFAP2A  ATP6V1A  FGFR2  RIT1  C12ORF57  PIK3R2  COL1A1  KMT2A  PGAP3  TWIST1  GPC4  TMEM216  ND1  DPH1  VAC14  PIK3R1  UBE2A  PAX3  ACTA2  ACOX1  PEX2  TMCO1  ZBTB24  FRAS1  FGFR1  FLII  FGD1  AKT3  NRAS  FGF17  CCDC22  FANCC  FREM1  COLEC11  CAMK2A  PPP2CA  STAMBP  PROKR2  TGFBR2  INPPL1  CASK  PRKAR1A  NEB  RECQL4  RB1  CDH11  CSPP1  UBE2T  B3GAT3  PTCH1  TRAPPC9  TONSL  PPP2R5D  PEX1  GATAD2B  MRAS  GTF2H5  RPL35A  TBC1D24  MAPRE2  TCF12  FGFR2  KIF7  NFIX  RAI1  IQSEC2  ZBTB24  PYCR1  FAM111A  MUSK  TUBB  LRP5  DHCR7  PTRH2  KCNN3  TCTN3  TMEM216  TMEM231  TWIST2  FGFR2  EFNB1  ADK  HBA1  TENM3  ERCC4  KIFBP  RIPK4  RUNX2  FLNA  TBCD  SHOC2  RRAS2  SPART  NKX2-6  SH3PXD2B  KIF7  CASK  SPRY4  TPRKB  TBCE  ATP6V1E1  MFAP5  SLC25A24  GLI3  FANCF  SUFU  BRPF1  FGFR1  C12ORF57  ALX4  RPS7  PITX2  GJA1  SEC23A  BRAF  ASXL3  GPAA1  SET  CTBP1  PARS2  PTCH2  USB1  PROK2  HRAS  PSAT1  BRAF  PIGW  GNRHR  TMEM107  RSRC1  HS6ST1  TRAPPC9  MAP3K7  AHDC1  PPP3CA  TCTN3  EMC1  RUNX2  IFT43  OGT  SEC24C  TGFB2  FANCG  DNAJC21  ALX1  FUCA1  TWIST1  FLI1  GNE  TCF3  MED12  PEX3  COMT  FGFR3  KLF13  ZSWIM6  GPC3  KNL1  DDR2  BCL11B  NUP88  HMGA2  TACR3  EED  SPECC1L  TBX2  FGFR3  DVL3  TRNH  CD79B  PSAT1  PHACTR1  PACS1  PIEZO2  BGN  TRNL1  KREMEN1  WNT5A  THOC2  FANCB  FGFR2  FLNA  RAD51  ANTXR1  SMCHD1  GP1BB  POLR3A  COG1  SKIV2L  AP4S1  OSGEP  KIAA0753  NOTCH2  SEMA3E  SKIV2L  RPL5  PACS2  POLR1A  TRNS1  ALG13  RPGRIP1  INSR  BRAF  ASXL1  OFD1  GK  CTNND1  XRCC2  FIG4  SPINT2  ACTA1  MASP1  RPGRIP1L  CTNND1  RIPK4  RAPSN  CHSY1  WAC  RMRP  LEMD3  PTPN11  NSD1  COX1  ZEB2  DVL1  PDE4D  FOXC1  FGFR2  HNRNPU  PRKAR1A  SOS2  CHD8  CIT  RRAS  SPECC1L  MEGF8  TGFB2  GLE1  TRNW  RREB1  PEPD  RNU4ATAC  SIN3A  APC  GJA1  PSAT1  CCDC22  CTCF  CCNK  ALX3  TBX1  ADAMTS3  SUFU  LMNA  FGFR2  POGZ  FGFR2  ATP6V1E1  PTPN11  TPM2  KAT6B  TMEM216  EBF3  KRAS  CPLANE1  SIX2  SKI  COL3A1  LTBP4  FLNA  BMPER  APC  APC2  RIT1  WDR73  WNT5A  NSD1  HACE1  CSNK2A1  ANTXR1  FBN1  EHMT1  KRAS  FLNB  BCORL1  SUFU  COL1A2  FGFR3  KIF7  MED12  SMS  TARS1  NXN  ND4  WASHC5  MAPK8IP3  CHRNG  ATRX  FGF8  THRA  BPTF  GBA  UBE3B  IRX5  FGFR2  ADAMTS3  COL2A1  CHRNG  TBX1  CBL  SALL4  ANK1  TRIP12  AUTS2  SOS1  PTPN11  RNF113A  ATP6V0A2  FGFR1  PMM2  HDAC8  MARS2  SPECC1L  PITX2  TTC7A  AGA  TMEM237  FBN1  AMER1  KIAA0753  TP53RK  EZH2  SEC24D  CDK13  MAP3K7  FGFR3  CCDC47  JAG1  DEAF1  FGFR1  MAN1B1  BRAF  EIF2AK3  ROR2  MAP3K7  PGAP2  RPS6KA3  OFD1  MAN1B1  EXTL3  BNC2  FGFR2  SIK3  COX7B  COL11A1  SRD5A3  TWIST1  TBCE  PPP1CB  FANCE  FANCM  PRKG1  MYLK  MUSK  IGHM  RAF1  SNAP29  FLNA  TCTN3  COLEC11  LIG4  KLHL41  COL2A1  FAM149B1  ARID1B  WDR11  FLNA  ELN  ACTA1  SETBP1  PIGN  PIGN  RBM10  SMAD4  RPS6KA3  CCND2  BRAF  TBX4  SUZ12  ADGRG6  FAT4  CHD7  FIG4  LRP2  CASK  NUP107  DLX4  AKT1  SLC2A10  TWIST2  FGFR2  TTC37  NSD2  WDR35  ERF  CDCA7  SPART  FGFR2  PEX5  RAF1  PIGL  EXOSC9  A2ML1  FGFR1  GPC4  FBXO11  TGFB3  CPLX1  SETBP1  CEP120  NSUN2  TRNS2  TMEM67  MED25  PIGO  PAFAH1B1  TPM3  NELFA  ZMPSTE24  COL27A1  HBA2  IGLL1  NKX2-5  XYLT2  SIN3A  MYOD1  MEF2C  SLC26A2  FGFR2  NSD1  TRIP4  KLHL41  DHCR7  TMEM231  SLC12A6  ACOX1  RET  FBN1  PIGN  FLNB  LRP4  ZIC1  CDH1  KLHL7  COL11A1  CDC42  NEB  AIFM1  TBX1  CPLANE1  ASXL3  ASXL2  SETBP1  ANKRD11  KCNJ2  FH  CHRNA7  ANKRD11  FGFR2  GLI3  PIK3R1  NOTCH3  PGAP3  TGFBR1  DVL1  KISS1  NFASC  POR  SMO  TPM3  NUP133  HRAS  SEMA3E  GLB1  GRIP1  ALX4  NRAS  CHD7  CTNND2  BRIP1  FANCL  TWIST2  FGFR2  FAT4  FGFR3  TBX1  GNE  NBAS  ATRX  FGD1  PIK3R2  TGDS  DNMT3B  SMAD3  MOCS2  ATRX   hr>