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Items: 1 to 100 of 1000

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC115, CCDC74B
+6 more
Copy number gain
not provided
GUncertain significance
ERCC8, NDUFAF2
Copy number loss
not provided
GUncertain significance
CATSPER2, CKMT1B
+2 more
Copy number loss
not provided
GUncertain significance
ACSF3
Copy number loss
not provided
GUncertain significance
CAPN14, EHD3
+1 more
Copy number loss
not provided
GUncertain significance
EDA2R
Copy number loss
not provided
GUncertain significance
USP34, XPO1
Copy number gain
not provided
GUncertain significance
AMER3, ARHGEF4
+5 more
Copy number gain
not provided
GUncertain significance
IGSF6, METTL9
+1 more
Copy number loss
not provided
GPathogenic
CD36, GNAT3
Copy number loss
not provided
GUncertain significance
MIR211, TRPM1
Copy number loss
not provided
GUncertain significance
MALL, NPHP1
Copy number loss
not provided
GPathogenic
CCDC17, GPBP1L1
+5 more
Copy number gain
not provided
GUncertain significance
ATP6V1B2, LPL
+2 more
Copy number gain
not provided
GUncertain significance
ADGRV1
Copy number loss
not provided
GUncertain significance
ANKRD34A, ANKRD35
+14 more
Copy number gain
not provided
GUncertain significance
EPHA4
Copy number loss
not provided
GUncertain significance
GALC
Copy number loss
not provided
GUncertain significance
ACYP2, PSME4
Copy number loss
not provided
GUncertain significance
STAG1
Copy number loss
not provided
GPathogenic
ADIPOR2, ERC1
+2 more
Copy number loss
not provided
GUncertain significance
IGSF6, METTL9
+1 more
Copy number loss
not provided
GPathogenic
CHD8, HNRNPC
+10 more
Copy number gain
not provided
GUncertain significance
ARL15
Copy number gain
not provided
GUncertain significance
OTOA
Copy number loss
not provided
GPathogenic
TNR
Copy number gain
not provided
GUncertain significance
ARTN, ATP6V0B
+24 more
Copy number loss
not provided
GPathogenic
PDE8B, WDR41
Copy number gain
not provided
GUncertain significance
DCLK1, NBEA
Copy number gain
not provided
GUncertain significance
ADAD2, ATMIN
+34 more
Copy number loss
not provided
GUncertain significance
DIAPH2
Copy number gain
not provided
GUncertain significance
MALL, NPHP1
Copy number loss
not provided
GPathogenic
DENND5A, TMEM41B
Copy number loss
not provided
GUncertain significance
Copy number gain
not provided
GUncertain significance
ANO3, MUC15
Copy number loss
not provided
GUncertain significance
KCNAB2, NPHP4
Copy number gain
not provided
GUncertain significance
MALL, NPHP1
Copy number loss
not provided
GPathogenic
CFAP126, MPZ
+2 more
Copy number gain
not provided
GUncertain significance
CTNS, SHPK
+1 more
Copy number loss
not provided
GPathogenic
RGMA
Copy number gain
not provided
GUncertain significance
CRYL1, GJB6
Copy number loss
not provided
GUncertain significance
GABARAPL1
Copy number loss
not provided
GUncertain significance
RBFOX1
Copy number loss
not provided
GUncertain significance
DOCK8, DOCK8-AS1
Copy number gain
not provided
GUncertain significance
Copy number gain
not provided
GUncertain significance
ABR
Copy number gain
not provided
GUncertain significance
ABAT
Copy number gain
not provided
GUncertain significance
CHL1
Copy number loss
not provided
GUncertain significance
UBAC2
Copy number loss
not provided
GUncertain significance
CNTN6
Copy number gain
not provided
GUncertain significance
ATXN8OS, KLHL1
Copy number gain
not provided
GUncertain significance
ANKRD65, ATAD3A
+4 more
Copy number loss
not provided
GUncertain significance
ABR, NXN
+1 more
Copy number gain
not provided
GUncertain significance
GRM7
Copy number loss
not provided
GUncertain significance
CYTH3, FAM220A
Copy number gain
not provided
GUncertain significance
ABAT, CARHSP1
+4 more
Copy number gain
not provided
GUncertain significance
APBB1, ARFIP2
+25 more
Copy number gain
not provided
GUncertain significance
DCDC1, DNAJC24
Copy number gain
not provided
GUncertain significance
COMTD1, VDAC2
Copy number loss
not provided
GUncertain significance
ALKAL1, RB1CC1
Copy number gain
not provided
GUncertain significance
PDE4D
Copy number loss
not provided
GUncertain significance
SEMA3C
Copy number loss
not provided
GUncertain significance
TANGO2
Copy number loss
not provided
GPathogenic
KCNE1, KCNE2
+2 more
Copy number gain
not provided
GUncertain significance
SNTN, SYNPR
+1 more
Copy number gain
not provided
GUncertain significance
BCAS3, PPM1D
Copy number gain
not provided
GUncertain significance
ACADVL, ACAP1
+28 more
Copy number gain
not provided
GUncertain significance
PTDSS1
Copy number loss
not provided
GUncertain significance
NCKAP5
Copy number loss
not provided
GUncertain significance
MECR, PTPRU
+1 more
Copy number loss
not provided
GUncertain significance
ANKRD30B, FAM210A
+6 more
Copy number gain
not provided
GUncertain significance
SPATA5
Copy number loss
not provided
GPathogenic
HTR3C, HTR3D
Copy number gain
not provided
GUncertain significance
ATF7IP2, GRIN2A
Copy number gain
not provided
GUncertain significance
NPAP1
Copy number loss
not provided
GUncertain significance
FBXO36, TRIP12
Copy number gain
not provided
GUncertain significance
ADAMTSL3, SH3GL3
Copy number gain
not provided
GUncertain significance
ANKRD6, BACH2
+16 more
Copy number gain
not provided
GUncertain significance
GLDC
Copy number loss
not provided
GPathogenic
TSPAN7
Copy number gain
not provided
GUncertain significance
ARHGAP15, KYNU
Copy number gain
not provided
GUncertain significance
DEPTOR, DSCC1
+2 more
Copy number gain
not provided
GUncertain significance
LINGO2
Copy number loss
not provided
GUncertain significance
PSD3
Copy number gain
not provided
GUncertain significance
DENND6B, HDAC10
+6 more
Copy number gain
not provided
GUncertain significance
LTC4S, MAML1
+1 more
Copy number gain
not provided
GUncertain significance
GLDC
Copy number loss
not provided
GPathogenic
SUCLG2
Copy number loss
not provided
GUncertain significance
BBOX1, FIBIN
Copy number loss
not provided
GUncertain significance
AP2A2, MUC6
Copy number gain
not provided
GUncertain significance
TBCD
Copy number loss
not provided
GUncertain significance
C16orf90, CLUAP1
+20 more
Copy number gain
not provided
GUncertain significance
MALL, NPHP1
Copy number loss
not provided
GPathogenic
EPDR1, NME8
+1 more
Copy number gain
not provided
GUncertain significance
NLGN4X
Copy number gain
not provided
GUncertain significance
AMER1, AR
+19 more
Copy number loss
not provided
GPathogenic
YWHAE
Copy number loss
not provided
GUncertain significance
ATF7IP2, GRIN2A
Copy number gain
not provided
GUncertain significance
Copy number loss
not provided
GUncertain significance
EVC2, LINC01587
+1 more
Copy number gain
not provided
GUncertain significance
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