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Genes and Genomic Entities
SV/CNV
198 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”
198 genes and genomic entities
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Genes
STRS
Regions
ABCC6
ADGRG1
AFDN
AFF2
AGAP1
AGPAT2
AKT3
AMELX
ANAPC7
ATAD3A
ATP6V0C
AUTS2
AVPR2
BMP4
BRD4
C4A
C4B
CA5A
CACNA1F
CAMTA1
CATSPER2
CCM2
CDHR1
CFHR1
CFHR2
CFHR3
CFHR5
CHST11
CLCNKB
CPEB1
CSTB
CTSB
CYP19A1
CYP21A2
DIAPH2
DIS3L2
DLG2
DMD
DNAAF4
DOCK8
DPP6
DPYD
DRC1
DSTYK
DUX4
DYNC1I1
DYRK1A
EHMT1
EN1
EPHA7
ERBB4
F8
FECH
FGF8
FHOD3
FKTN
FMN1
FXN
GGT1
GJB6
GNAS-AS1
GPC6
GPHN
GREM1
GRHL2
GRID2
HBA1
HBA2
HBB
HCCS
HDAC4
HMGA2
HMGCL
HMX1
HNF1B
ICOS
IHH
IKBKG
IRAK1
IRX5
IRX6
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
JARID2
KANSL1
KLC2
LARGE1
LARS2
LDHA
LMBR1
LMNB1
MARS2
MBD5
MCOLN1
MEF2C
MIR17HG
MKRN3
MYADML2
MYT1L
NF2
NFIB
NMNAT1
NPHP1
NR0B1
NSD1
OCA2
OPN1LW
OPN1MW
OTOA
PAFAH1B1
PDLIM3
PGRMC1
PIGL
PIGN
PLAU
PLCB1
PMP22
PRDM13
PRDM16
PREPL
PRPF31
PRSS1
RAPSN
RBM8A
RPL35A
RREB1
RUNX2
SACS
SEPT9
SH3KBP1
SHANK3
SHOX
SMN1
SNCA
SNRPN
SOST
SOX3
SOX5
STRC
STS
STX16
TAB2
TAPBP
TBX1
TP63
TRAPPC9
TSC1
TUSC3
TWIST1
TXNL4A
UBE2T
UBE3A
USP9Y
VCAN
WWOX
XYLT1
YWHAE
ZEB1
ZEB2
ZFHX4
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
ophthalmological
paediatric-onset
pharmacogenomic
refuted
renal
respiratory
review
skeletal
som
somatic
STR
SV/CNV
technically challenging
treatable
treatment
umccr
UTR
vascular