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Genes and Genomic Entities
SV/CNV
233 genes and genomic entities tagged
“SV/CNV”
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Gene or Genomic Entity Name
Enter a gene symbol, STR name, Region name, or the beginning of one, eg “CD” or “CD19”
233 genes and genomic entities
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Genes
STRS
Regions
ABCB4:Ensemblv90
ABCC6:Ensemblv90
ADGRG1:Ensemblv90
AFDN:Ensemblv90
AFF2:Ensemblv90
AGAP1:Ensemblv90
AGPAT2:Ensemblv90
AKT3:Ensemblv90
AMELX:Ensemblv90
ANAPC7:Ensemblv90
ANKS1B:Ensemblv90
ARHGAP36:Ensemblv90
ARHGEF9:Ensemblv90
ATAD3A:Ensemblv90
ATP6V0C:Ensemblv90
AUTS2:Ensemblv90
AVPR2:Ensemblv90
BHLHA9:Ensemblv90
BMP4:Ensemblv90
BRCC3:Ensemblv90
BRD4:Ensemblv90
C4A:Ensemblv90
C4B:Ensemblv90
CA5A:Ensemblv90
CACNA1F:Ensemblv90
CAMTA1:Ensemblv90
CATSPER2:Ensemblv90
CCM2:Ensemblv90
CDHR1:Ensemblv90
CFHR1:Ensemblv90
CFHR2:Ensemblv90
CFHR3:Ensemblv90
CFHR5:Ensemblv90
CHST11:Ensemblv90
CLCNKB:Ensemblv90
CLN3:Ensemblv90
CNGB3:Ensemblv90
CPEB1:Ensemblv90
CSTB:Ensemblv90
CTNS:Ensemblv90
CTSB:Ensemblv90
CYP19A1:Ensemblv90
CYP21A2:Ensemblv90
DIAPH2:Ensemblv90
DIS3L2:Ensemblv90
DLG2:Ensemblv90
DMD:Ensemblv90
DNAAF4:Ensemblv90
DOCK8:Ensemblv90
DPP6:Ensemblv90
DPYD:Ensemblv90
DRC1:Ensemblv90
DSTYK:Ensemblv90
DUX4:Ensemblv90
DYNC1I1:Ensemblv90
DYRK1A:Ensemblv90
EHMT1:Ensemblv90
EN1:Ensemblv90
EPCAM:Ensemblv90
EPHA7:Ensemblv90
ERBB4:Ensemblv90
F8:Ensemblv90
FECH:Ensemblv90
FGF8:Ensemblv90
FHOD3:Ensemblv90
FKTN:Ensemblv90
FMN1:Ensemblv90
FXN:Ensemblv90
GGT1:Ensemblv90
GJB6:Ensemblv90
GK:Ensemblv90
GNAS-AS1:Ensemblv90
GPC6:Ensemblv90
GPHN:Ensemblv90
GREM1:Ensemblv90
GRHL2:Ensemblv90
GRID2:Ensemblv90
HAT1:Ensemblv90
HBA1:Ensemblv90
HBA2:Ensemblv90
HBB:Ensemblv90
HCCS:Ensemblv90
HDAC4:Ensemblv90
HMGA2:Ensemblv90
HMGCL:Ensemblv90
HMX1:Ensemblv90
HNF1B:Ensemblv90
ICOS:Ensemblv90
IHH:Ensemblv90
IKBKG:Ensemblv90
IRAK1:Ensemblv90
IRX5:Ensemblv90
IRX6:Ensemblv90
ISCA-37390-Loss
ISCA-37392-Gain
ISCA-37392-Loss
ISCA-37393-Gain
ISCA-37394-Loss
ISCA-37396-Loss
ISCA-37397-Gain
ISCA-37397-Loss
ISCA-37400-Gain
ISCA-37400-Loss
ISCA-37401-Loss
ISCA-37404-Gain
ISCA-37404-Loss
ISCA-37405-Loss
ISCA-37406-Loss
ISCA-37408-Loss
ISCA-37411-Loss
ISCA-37415-Gain
ISCA-37415-Loss
ISCA-37420-Loss
ISCA-37421-Gain
ISCA-37421-Loss
ISCA-37423-Gain
ISCA-37423-Loss
ISCA-37424-Loss
ISCA-37425-Gain
ISCA-37425-Loss
ISCA-37429-Loss
ISCA-37430-Gain
ISCA-37436-Loss
ISCA-37442-Gain
ISCA-37446-Loss
ISCA-37468-Loss
ISCA-37478-Gain
ISCA-37478-Loss
ISCA-37486-Loss
ISCA-37493-Loss
ISCA-46299-Gain
ISCA_37418-Loss
ISPD:Ensemblv90
JARID2:Ensemblv90
KANSL1:Ensemblv90
KLC2:Ensemblv90
LARGE1:Ensemblv90
LARS2:Ensemblv90
LDHA:Ensemblv90
LINC01578:Ensemblv90
LMBR1:Ensemblv90
LMNB1:Ensemblv90
MARS2:Ensemblv90
MBD5:Ensemblv90
MCOLN1:Ensemblv90
MEF2C:Ensemblv90
MEG3:Ensemblv90
MIR17HG:Ensemblv90
MKRN3:Ensemblv90
MYADML2:Ensemblv90
MYT1L:Ensemblv90
NF2:Ensemblv90
NFIB:Ensemblv90
NMNAT1:Ensemblv90
NPHP1:Ensemblv90
NR0B1:Ensemblv90
NSD1:Ensemblv90
OCA2:Ensemblv90
OPN1LW:Ensemblv90
OPN1MW:Ensemblv90
OTOA:Ensemblv90
OTUD7A:Ensemblv90
PAFAH1B1:Ensemblv90
PDLIM3:Ensemblv90
PGRMC1:Ensemblv90
PIGL:Ensemblv90
PIGN:Ensemblv90
PLAU:Ensemblv90
PLCB1:Ensemblv90
PMP22:Ensemblv90
PRDM13:Ensemblv90
PRDM16:Ensemblv90
PREPL:Ensemblv90
PRPF31:Ensemblv90
PRSS1:Ensemblv90
RAPSN:Ensemblv90
RBM8A:Ensemblv90
RPL35A:Ensemblv90
RREB1:Ensemblv90
RUNX2:Ensemblv90
SACS:Ensemblv90
SEPT9:Ensemblv90
SH3KBP1:Ensemblv90
SHANK3:Ensemblv90
SHOX:Ensemblv90
SMN1:Ensemblv90
SNCA:Ensemblv90
SNRPN:Ensemblv90
SOST:Ensemblv90
SOX3:Ensemblv90
SOX5:Ensemblv90
STRC:Ensemblv115
STRC:Ensemblv90
STS:Ensemblv115
STS:Ensemblv90
STX16:Ensemblv115
STX16:Ensemblv90
TAB2:Ensemblv90
TANGO2:Ensemblv115
TANGO2:Ensemblv90
TAPBP:Ensemblv115
TAPBP:Ensemblv90
TBX1:Ensemblv115
TBX1:Ensemblv90
TP63:Ensemblv115
TP63:Ensemblv90
TRAPPC9:Ensemblv90
TSC1:Ensemblv115
TSC1:Ensemblv90
TUSC3:Ensemblv115
TUSC3:Ensemblv90
TWIST1:Ensemblv115
TWIST1:Ensemblv90
TXNL4A:Ensemblv115
TXNL4A:Ensemblv90
UBE2T:Ensemblv115
UBE2T:Ensemblv90
UBE3A:Ensemblv115
UBE3A:Ensemblv90
USP9Y:Ensemblv90
VCAN:Ensemblv115
VCAN:Ensemblv90
WWOX:Ensemblv115
WWOX:Ensemblv90
XYLT1:Ensemblv115
XYLT1:Ensemblv90
YWHAE:Ensemblv90
ZDHHC9:Ensemblv115
ZDHHC9:Ensemblv90
ZEB1:Ensemblv90
ZEB2:Ensemblv115
ZEB2:Ensemblv90
ZFHX4:Ensemblv90
Tagged
5'UTR
acadm
adult-onset
adult onset neurodegenerative
cancer
cardiac
clinical trial
cnv
deafness
deep intronic
dermatological
digenic
disputed
endocrine
for reivew
for review
founder
gastrointestinal
GI
haematological
immunological
liver
Medicare
metabolic
mtDNA
neurological
new gene name
non-coding gene
ophthalmological
paediatric-onset
pharmacogenomic
refuted
regulatory region
renal
respiratory
review
skeletal
som
somatic
STR
SV/CNV
technically challenging
treatable
treatment
umccr
UTR
vascular
VNTR