Genome Diagnostics Laboratory (Amsterdam University Medical Center), VUMC GD
General information
Genome Diagnostics Laboratory, VUMC GD
Amsterdam University Medical Center
van der Boechorststraat 7
Amsterdam
Noord-Holland
Netherlands - 1081 BT
http://www.vumc.nl
Organization ID: 506453
Amsterdam University Medical Center
van der Boechorststraat 7
Amsterdam
Noord-Holland
Netherlands - 1081 BT
http://www.vumc.nl
Organization ID: 506453
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 3744
Gene
Gene | Submissions | Last Updated |
---|---|---|
AAAS | 1 | Aug 24, 2021 |
ABCA4 | 3 | Aug 24, 2021 |
ABCB11 | 4 | Oct 15, 2021 |
ABCC6 | 2 | Aug 24, 2021 |
ABHD12 | 2 | Aug 24, 2021 |
ABL1 | 5 | Dec 16, 2021 |
ACAN | 1 | Dec 16, 2021 |
ACTA2 | 6 | Aug 24, 2021 |
ACTG1 | 1 | Dec 16, 2021 |
ACVRL1 | 5 | Aug 24, 2021 |
ACYP1 | 1 | Aug 24, 2021 |
ADA2 | 2 | Aug 24, 2021 |
ADAMTS10 | 8 | Dec 16, 2021 |
ADAMTS17 | 12 | Dec 16, 2021 |
ADAMTS18 | 4 | Aug 24, 2021 |
ADAMTS2 | 12 | Aug 24, 2021 |
ADAMTSL2 | 12 | Aug 24, 2021 |
ADAMTSL4 | 6 | Oct 15, 2021 |
ADAMTSL4-AS2 | 2 | Oct 15, 2021 |
ADAT3 | 1 | Oct 15, 2021 |
ADCY5 | 2 | Aug 24, 2021 |
ADGRV1 | 1 | Aug 24, 2021 |
ADNP | 1 | Aug 24, 2021 |
ADSL | 1 | Aug 24, 2021 |
AEBP1 | 1 | Aug 24, 2021 |
AFG2A | 1 | Aug 24, 2021 |
AGPAT2 | 1 | Aug 24, 2021 |
AHI1 | 1 | Aug 24, 2021 |
AIP | 3 | Aug 24, 2021 |
AKT1 | 5 | Dec 16, 2021 |
ALDH18A1 | 1 | Apr 9, 2018 |
ALDH3A2 | 2 | Aug 24, 2021 |
ALDH7A1 | 1 | Apr 9, 2018 |
ALDOB | 1 | Aug 24, 2021 |
ALG6 | 3 | Aug 24, 2021 |
ALK | 9 | Aug 24, 2021 |
ALPL | 12 | Aug 24, 2021 |
ALS2 | 20 | Oct 15, 2021 |
ALX1 | 1 | Dec 16, 2021 |
ANG | 1 | Aug 24, 2021 |
ANKRD11 | 4 | Dec 16, 2021 |
ANKRD26 | 1 | Dec 16, 2021 |
ANO5 | 6 | Dec 16, 2021 |
AOPEP | 4 | Oct 15, 2021 |
AP4B1 | 2 | Oct 15, 2021 |
AP4B1-AS1 | 1 | Oct 15, 2021 |
AP4M1 | 1 | Aug 24, 2021 |
APC | 30 | Dec 16, 2021 |
APOB | 1 | Aug 24, 2021 |
APOE | 8 | Aug 24, 2021 |
APP | 3 | Aug 24, 2021 |
APTX | 1 | Aug 24, 2021 |
AR | 1 | Aug 24, 2021 |
ARF1 | 1 | Aug 24, 2021 |
ARHGEF28 | 25 | Aug 24, 2021 |
ARID1B | 2 | Dec 16, 2021 |
ARL6 | 3 | Aug 24, 2021 |
ARMS2 | 2 | Dec 16, 2021 |
ARSA | 3 | Aug 24, 2021 |
ASTN2 | 2 | Dec 16, 2021 |
ASXL3 | 1 | Aug 24, 2021 |
ATL1 | 1 | Aug 24, 2021 |
ATM | 80 | Dec 16, 2021 |
ATP13A2 | 14 | Aug 24, 2021 |
ATP1A3 | 9 | Aug 24, 2021 |
ATP2A1 | 1 | Aug 24, 2021 |
ATP6AP2 | 1 | Aug 24, 2021 |
ATP7A | 4 | Aug 24, 2021 |
ATP7B | 35 | Dec 16, 2021 |
ATRIP | 2 | Dec 16, 2021 |
ATRIP-TREX1 | 2 | Dec 16, 2021 |
ATXN2 | 9 | Aug 24, 2021 |
ATXN3 | 3 | Aug 24, 2021 |
AXDND1 | 1 | Aug 24, 2021 |
AXIN2 | 14 | Dec 16, 2021 |
B3GALNT2 | 1 | Apr 9, 2018 |
B3GALT6 | 1 | Aug 24, 2021 |
B3GAT3 | 3 | Aug 24, 2021 |
B3GLCT | 1 | Aug 24, 2021 |
B4GALT7 | 4 | Aug 24, 2021 |
BAG3 | 3 | Oct 15, 2021 |
BAP1 | 7 | Dec 16, 2021 |
BARD1 | 4 | Dec 16, 2021 |
BBS1 | 2 | Aug 24, 2021 |
BBS10 | 4 | Aug 24, 2021 |
BBS12 | 5 | Apr 9, 2018 |
BBS2 | 6 | Aug 24, 2021 |
BBS4 | 5 | Aug 24, 2021 |
BBS5 | 1 | Aug 24, 2021 |
BBS7 | 1 | Apr 9, 2018 |
BBS9 | 8 | Aug 24, 2021 |
BEST1 | 1 | Aug 24, 2021 |
BGN | 5 | Aug 24, 2021 |
BIVM-ERCC5 | 15 | Aug 24, 2021 |
BLK | 1 | Dec 16, 2021 |
BLM | 10 | Aug 24, 2021 |
BMP1 | 3 | Aug 24, 2021 |
BMP4 | 2 | Aug 24, 2021 |
BMPR1A | 4 | Aug 24, 2021 |
BRAF | 3 | Aug 24, 2021 |
BRAT1 | 1 | Aug 24, 2021 |
BRCA1 | 1 | Apr 9, 2018 |
BRCA2 | 3 | Apr 9, 2018 |
BRIP1 | 9 | Aug 24, 2021 |
BRWD3 | 1 | Aug 24, 2021 |
BSND | 1 | Aug 24, 2021 |
BUB1B | 2 | Dec 16, 2021 |
BUB1B-PAK6 | 2 | Dec 16, 2021 |
C11orf65 | 25 | Dec 16, 2021 |
C17orf107 | 1 | Dec 16, 2021 |
C19orf12 | 7 | Aug 24, 2021 |
C1QTNF5 | 2 | Aug 24, 2021 |
C1S | 3 | Oct 15, 2021 |
C9orf72 | 4 | Aug 24, 2021 |
CACNA1A | 1 | Oct 15, 2021 |
CAMK1 | 1 | Apr 9, 2018 |
CAPN3 | 1 | Aug 24, 2021 |
CARD11 | 1 | Oct 15, 2021 |
CARD9 | 1 | Aug 24, 2021 |
CBL | 11 | Aug 24, 2021 |
CBS | 8 | Dec 16, 2021 |
CC2D2A | 1 | Aug 24, 2021 |
CCBE1 | 1 | Aug 24, 2021 |
CCDC40 | 1 | Aug 24, 2021 |
CCDST | 3 | Aug 24, 2021 |
CDC73 | 2 | Oct 15, 2021 |
CDH1 | 24 | Dec 16, 2021 |
CDK13 | 2 | Aug 24, 2021 |
CDKN1A | 3 | Aug 24, 2021 |
CDKN1B | 1 | Apr 9, 2018 |
CDKN2A | 2 | Dec 16, 2021 |
CEBPA | 3 | Aug 24, 2021 |
CEP152 | 1 | Aug 24, 2021 |
CEP290 | 5 | Aug 24, 2021 |
CEP41 | 1 | Aug 24, 2021 |
CFHR5 | 1 | Aug 24, 2021 |
CFP | 1 | Aug 24, 2021 |
CFTR | 4 | Dec 16, 2021 |
CFTR-AS1 | 2 | Dec 16, 2021 |
CHAT | 2 | Aug 24, 2021 |
CHCHD10 | 6 | Aug 24, 2021 |
CHD3 | 1 | Aug 24, 2021 |
CHEK2 | 24 | Dec 16, 2021 |
CHMP2B | 4 | Aug 24, 2021 |
CHRNA1 | 2 | Aug 24, 2021 |
CHRNB1 | 1 | Aug 24, 2021 |
CHRNE | 1 | Dec 16, 2021 |
CHROMR | 1 | Aug 24, 2021 |
CHST14 | 1 | Aug 24, 2021 |
CHST3 | 4 | Aug 24, 2021 |
CIB2 | 1 | Aug 24, 2021 |
CLCN1 | 1 | Aug 24, 2021 |
CLN3 | 10 | Aug 24, 2021 |
CLN5 | 12 | Aug 24, 2021 |
CLN8 | 2 | Aug 24, 2021 |
CNGA3 | 1 | Aug 24, 2021 |
CNGB3 | 1 | Aug 24, 2021 |
COASY | 3 | Aug 24, 2021 |
COCH | 1 | Aug 24, 2021 |
COL11A1 | 34 | Aug 24, 2021 |
COL11A2 | 21 | Oct 15, 2021 |
COL12A1 | 11 | Oct 15, 2021 |
COL17A1 | 1 | Aug 24, 2021 |
COL18A1 | 12 | Aug 24, 2021 |
COL1A1 | 22 | Dec 16, 2021 |
COL1A2 | 18 | Dec 16, 2021 |
COL2A1 | 28 | Dec 16, 2021 |
COL3A1 | 25 | Aug 24, 2021 |
COL4A1 | 3 | Aug 24, 2021 |
COL4A2 | 1 | Aug 24, 2021 |
COL4A2-AS1 | 1 | Aug 24, 2021 |
COL4A4 | 1 | Aug 24, 2021 |
COL5A1 | 36 | Dec 16, 2021 |
COL5A2 | 19 | Dec 16, 2021 |
COL6A1 | 4 | Aug 24, 2021 |
COL6A2 | 4 | Aug 24, 2021 |
COL6A3 | 5 | Aug 24, 2021 |
COL7A1 | 16 | Oct 15, 2021 |
COL9A1 | 15 | Dec 16, 2021 |
COL9A2 | 17 | Aug 24, 2021 |
COL9A3 | 16 | Dec 16, 2021 |
COMT | 4 | Aug 24, 2021 |
COQ2 | 3 | Aug 24, 2021 |
COQ8A | 1 | Aug 24, 2021 |
CP | 27 | Oct 15, 2021 |
CPT2 | 2 | Aug 24, 2021 |
CRB2 | 1 | Aug 24, 2021 |
CREB3L1 | 3 | Dec 16, 2021 |
CREBBP | 2 | Dec 16, 2021 |
CRTAP | 6 | Aug 24, 2021 |
CRYBA1 | 1 | Aug 24, 2021 |
CSF1R | 32 | Dec 16, 2021 |
CSNK2A1 | 1 | Aug 24, 2021 |
CTC1 | 2 | Dec 16, 2021 |
CTNNA1 | 4 | Aug 24, 2021 |
CTNNB1 | 1 | Oct 15, 2021 |
CTSD | 17 | Aug 24, 2021 |
CTSF | 5 | Aug 24, 2021 |
CUBN | 1 | Apr 9, 2018 |
CUL7 | 1 | Aug 24, 2021 |
CYP17A1 | 1 | Aug 24, 2021 |
CYP1B1 | 1 | Aug 24, 2021 |
CYP21A2 | 1 | Aug 24, 2021 |
CYP27A1 | 1 | Aug 24, 2021 |
DCAF17 | 5 | Aug 24, 2021 |
DCT | 1 | Aug 24, 2021 |
DCTN1 | 4 | Aug 24, 2021 |
DDB2 | 1 | Aug 24, 2021 |
DDHD2 | 1 | Aug 24, 2021 |
DDOST | 1 | Aug 24, 2021 |
DDX3X | 4 | Aug 24, 2021 |
DEPDC5 | 1 | Aug 24, 2021 |
DES | 1 | Aug 24, 2021 |
DHCR7 | 3 | Oct 15, 2021 |
DHFR | 4 | Oct 15, 2021 |
DICER1 | 12 | Dec 16, 2021 |
DIS3L2 | 6 | Dec 16, 2021 |
DKC1 | 2 | Aug 24, 2021 |
DNAAF1 | 1 | Aug 24, 2021 |
DNAAF3 | 1 | Aug 24, 2021 |
DNAAF3-AS1 | 1 | Aug 24, 2021 |
DNAH11 | 2 | Aug 24, 2021 |
DNAH5 | 4 | Aug 24, 2021 |
DNAH8 | 1 | Oct 15, 2021 |
DNAI1 | 2 | Aug 24, 2021 |
DNAJC13 | 16 | Aug 24, 2021 |
DNAJC6 | 7 | Aug 24, 2021 |
DNM1L | 1 | Aug 24, 2021 |
DOCK6 | 2 | Aug 24, 2021 |
DOCK6-AS1 | 1 | Aug 24, 2021 |
DOCK8 | 5 | Oct 15, 2021 |
DPYD | 2 | Aug 24, 2021 |
DPYSL5 | 1 | Aug 24, 2021 |
DSE | 2 | Aug 24, 2021 |
DSPP | 1 | Oct 15, 2021 |
DYNC1H1 | 4 | Aug 24, 2021 |
DYNC2H1 | 1 | Aug 24, 2021 |
ECEL1 | 1 | Aug 24, 2021 |
ECHS1 | 1 | Dec 16, 2021 |
EEF1A2 | 1 | Aug 24, 2021 |
EFEMP2 | 11 | Aug 24, 2021 |
EFTUD2 | 1 | Dec 16, 2021 |
EGFR | 1 | Aug 24, 2021 |
EGILA | 1 | Aug 24, 2021 |
EHMT1 | 1 | Aug 24, 2021 |
EIF3F | 1 | Dec 16, 2021 |
EIF4G1 | 21 | Oct 15, 2021 |
ELANE | 3 | Aug 24, 2021 |
ELN | 18 | Dec 16, 2021 |
ELN-AS1 | 3 | Aug 24, 2021 |
ENG | 11 | Aug 24, 2021 |
EPCAM | 5 | Aug 24, 2021 |
EPHA8 | 1 | Aug 24, 2021 |
EPHB2 | 3 | Aug 24, 2021 |
ERBB4 | 11 | Aug 24, 2021 |
ERCC2 | 8 | Dec 16, 2021 |
ERCC3 | 1 | Aug 24, 2021 |
ERCC4 | 4 | Dec 16, 2021 |
ERCC5 | 15 | Aug 24, 2021 |
ERCC8 | 1 | Aug 24, 2021 |
EXT1 | 1 | Aug 24, 2021 |
EXT2 | 2 | Aug 24, 2021 |
EYA1 | 1 | Aug 24, 2021 |
EYS | 3 | Aug 24, 2021 |
FA2H | 7 | Aug 24, 2021 |
FAH | 3 | Aug 24, 2021 |
FAN1 | 6 | Dec 16, 2021 |
FANCA | 7 | Aug 24, 2021 |
FANCB | 3 | Aug 24, 2021 |
FANCC | 8 | Oct 15, 2021 |
FANCD2 | 11 | Aug 24, 2021 |
FANCD2OS | 1 | Aug 24, 2021 |
FANCE | 1 | Aug 24, 2021 |
FANCF | 2 | Aug 24, 2021 |
FANCG | 4 | Dec 16, 2021 |
FANCI | 9 | Aug 24, 2021 |
FANCL | 1 | Aug 24, 2021 |
FANCM | 8 | Oct 15, 2021 |
FAS | 4 | Aug 24, 2021 |
FAT4 | 1 | Aug 24, 2021 |
FBLN5 | 2 | Aug 24, 2021 |
FBN1 | 56 | Dec 16, 2021 |
FBN2 | 48 | Dec 16, 2021 |
FBXL3 | 5 | Aug 24, 2021 |
FBXO7 | 7 | Aug 24, 2021 |
FGD1 | 1 | Aug 24, 2021 |
FGF12 | 1 | Aug 24, 2021 |
FGFR2 | 5 | Aug 24, 2021 |
FGFR3 | 16 | Dec 16, 2021 |
FH | 10 | Dec 16, 2021 |
FIG4 | 12 | Aug 24, 2021 |
FKBP10 | 4 | Aug 24, 2021 |
FKBP14 | 1 | Aug 24, 2021 |
FKBP14-AS1 | 1 | Aug 24, 2021 |
FKRP | 2 | Aug 24, 2021 |
FKTN | 1 | Aug 24, 2021 |
FLCN | 10 | Aug 24, 2021 |
FLG | 3 | Aug 24, 2021 |
FLNA | 38 | Dec 16, 2021 |
FLNB | 14 | Dec 16, 2021 |
FLNC | 5 | Aug 24, 2021 |
FLNC-AS1 | 1 | Aug 24, 2021 |
FLT4 | 1 | Aug 24, 2021 |
FNIP1 | 1 | Aug 24, 2021 |
FOXE3 | 1 | Aug 24, 2021 |
FOXP1 | 1 | Aug 24, 2021 |
FRAS1 | 1 | Aug 24, 2021 |
FTL | 1 | Aug 24, 2021 |
FUS | 12 | Aug 24, 2021 |
FXN | 1 | Aug 24, 2021 |
G6PC1 | 1 | Apr 9, 2018 |
G6PD | 2 | Aug 24, 2021 |
GAA | 3 | Aug 24, 2021 |
GABRA1 | 1 | Aug 24, 2021 |
GABRG2 | 1 | Aug 24, 2021 |
GALT | 1 | Aug 24, 2021 |
GAN | 1 | Aug 24, 2021 |
GATA2 | 2 | Aug 24, 2021 |
GATA4 | 7 | Aug 24, 2021 |
GBA1 | 3 | Aug 24, 2021 |
GBE1 | 2 | Aug 24, 2021 |
GDAP1 | 1 | Dec 16, 2021 |
GFAP | 1 | Aug 24, 2021 |
GFPT1 | 2 | Dec 16, 2021 |
GH-LCR | 1 | Aug 24, 2021 |
GIGYF2 | 6 | Apr 9, 2018 |
GJA1 | 1 | Aug 24, 2021 |
GJA8 | 1 | Aug 24, 2021 |
GJB2 | 5 | Aug 24, 2021 |
GLDC | 1 | Aug 24, 2021 |
GLI3 | 2 | Aug 24, 2021 |
GNAI2 | 1 | Aug 24, 2021 |
GNAS | 1 | Aug 24, 2021 |
GNB5 | 1 | Aug 24, 2021 |
GORAB | 3 | Oct 15, 2021 |
GORAB-AS1 | 1 | Aug 24, 2021 |
GPC3 | 4 | Aug 24, 2021 |
GPSM2 | 1 | Aug 24, 2021 |
GREM1 | 1 | Aug 24, 2021 |
GRIN2B | 1 | Aug 24, 2021 |
GRN | 14 | Dec 16, 2021 |
GYS1 | 1 | Aug 24, 2021 |
H4C5 | 1 | Aug 24, 2021 |
HAS3 | 1 | Aug 24, 2021 |
HERC2 | 1 | Aug 24, 2021 |
HEY2 | 1 | Dec 16, 2021 |
HFE | 1 | Aug 24, 2021 |
HFE-AS1 | 1 | Aug 24, 2021 |
HMBS | 1 | Aug 24, 2021 |
HNF1A | 1 | Dec 16, 2021 |
HNF4A | 1 | Dec 16, 2021 |
HNRNPA1 | 2 | Aug 24, 2021 |
HNRNPA2B1 | 3 | Aug 24, 2021 |
HNRNPH2 | 1 | Aug 24, 2021 |
HOXB13 | 1 | Aug 24, 2021 |
HPS3 | 2 | Aug 24, 2021 |
HRAS | 1 | Aug 24, 2021 |
HSD17B4 | 1 | Aug 24, 2021 |
HSF4 | 1 | Oct 15, 2021 |
HSPG2 | 1 | Aug 24, 2021 |
HTRA1 | 8 | Dec 16, 2021 |
HTT | 1 | Aug 24, 2021 |
HUWE1 | 2 | Aug 24, 2021 |
HYDIN | 1 | Aug 24, 2021 |
IDUA | 1 | Aug 24, 2021 |
IFIH1 | 1 | Aug 24, 2021 |
IFITM5 | 1 | Apr 9, 2018 |
IFT74 | 2 | Oct 15, 2021 |
IGHMBP2 | 3 | Oct 15, 2021 |
IL17F | 1 | Dec 16, 2021 |
IL1RN | 1 | Aug 24, 2021 |
INS | 1 | Apr 9, 2018 |
IRF2BPL | 1 | Aug 24, 2021 |
IRS1 | 3 | Apr 9, 2018 |
ITK | 2 | Apr 9, 2018 |
ITM2B | 1 | Aug 24, 2021 |
JAG1 | 1 | Oct 15, 2021 |
KBTBD13 | 2 | Aug 24, 2021 |
KCNB1 | 1 | Dec 16, 2021 |
KCNC3 | 1 | Aug 24, 2021 |
KCNJ11 | 1 | Aug 24, 2021 |
KCNQ1 | 1 | Aug 24, 2021 |
KCNQ2 | 1 | Aug 24, 2021 |
KCNQ3 | 1 | Dec 16, 2021 |
KDELR2 | 1 | Aug 24, 2021 |
KDM5C | 1 | Aug 24, 2021 |
KDM6A | 1 | Aug 24, 2021 |
KIF1A | 1 | Aug 24, 2021 |
KIF1C | 2 | Oct 15, 2021 |
KIF5A | 1 | Aug 24, 2021 |
KIT | 6 | Dec 16, 2021 |
KLLN | 1 | Aug 24, 2021 |
KMT2A | 1 | Aug 24, 2021 |
KMT2B | 1 | Oct 15, 2021 |
KMT2D | 3 | Dec 16, 2021 |
KRAS | 1 | Aug 24, 2021 |
LAMA1 | 2 | Aug 24, 2021 |
LAMA2 | 1 | Aug 24, 2021 |
LAMB4 | 1 | Aug 24, 2021 |
LAMC3 | 14 | Aug 24, 2021 |
LARGE1 | 1 | Aug 24, 2021 |
LDB3 | 4 | Dec 16, 2021 |
LDLR | 1 | Aug 24, 2021 |
LEP | 1 | Aug 24, 2021 |
LHX3 | 1 | Aug 24, 2021 |
LIFR | 2 | Aug 24, 2021 |
LINC01389 | 1 | Aug 24, 2021 |
LIPA | 1 | Aug 24, 2021 |
LITAF | 1 | Aug 24, 2021 |
LMNA | 1 | Aug 24, 2021 |
LMOD1 | 1 | Oct 15, 2021 |
LOC100506071 | 1 | Aug 24, 2021 |
LOC100507346 | 3 | Dec 16, 2021 |
LOC101448202 | 6 | Aug 24, 2021 |
LOC102723566 | 3 | Aug 24, 2021 |
LOC102724058 | 1 | Aug 24, 2021 |
LOC106627981 | 3 | Aug 24, 2021 |
LOC106780800 | 1 | Aug 24, 2021 |
LOC106780803 | 3 | Oct 15, 2021 |
LOC107303338 | 9 | Aug 24, 2021 |
LOC107303340 | 1 | Aug 24, 2021 |
LOC107372315 | 2 | Aug 24, 2021 |
LOC107982234 | 1 | Oct 15, 2021 |
LOC107988032 | 3 | Aug 24, 2021 |
LOC108663987 | 1 | Aug 24, 2021 |
LOC108903148 | 2 | Aug 24, 2021 |
LOC110011216 | 1 | Aug 24, 2021 |
LOC110121486 | 1 | Dec 16, 2021 |
LOC111188154 | 2 | Aug 24, 2021 |
LOC112272621 | 1 | Aug 24, 2021 |
LOC112997540 | 1 | Aug 24, 2021 |
LOC113939944 | 1 | Dec 16, 2021 |
LOC117038776 | 1 | Aug 24, 2021 |
LOC124629354 | 2 | Aug 24, 2021 |
LOC124629423 | 1 | Dec 16, 2021 |
LOC125177489 | 1 | Aug 24, 2021 |
LOC126806039 | 1 | Aug 24, 2021 |
LOC126806423 | 1 | Aug 24, 2021 |
LOC126806425 | 1 | Aug 24, 2021 |
LOC126806426 | 1 | Aug 24, 2021 |
LOC126806791 | 3 | Aug 24, 2021 |
LOC126807501 | 2 | Aug 24, 2021 |
LOC126859712 | 1 | Aug 24, 2021 |
LOC126859827 | 1 | Dec 16, 2021 |
LOC126859836 | 1 | Aug 24, 2021 |
LOC126859871 | 2 | Aug 24, 2021 |
LOC126860303 | 1 | Dec 16, 2021 |
LOC126860438 | 2 | Oct 15, 2021 |
LOC126860777 | 1 | Aug 24, 2021 |
LOC126860782 | 1 | Aug 24, 2021 |
LOC126860794 | 4 | Aug 24, 2021 |
LOC126861205 | 1 | Aug 24, 2021 |
LOC126861339 | 1 | Aug 24, 2021 |
LOC126861368 | 1 | Aug 24, 2021 |
LOC126861834 | 1 | Apr 9, 2018 |
LOC126861896 | 1 | Aug 24, 2021 |
LOC126862060 | 1 | Aug 24, 2021 |
LOC126862264 | 2 | Aug 24, 2021 |
LOC126863084 | 1 | Aug 24, 2021 |
LOC126863256 | 1 | Aug 24, 2021 |
LOC129936436 | 1 | Aug 24, 2021 |
LOC129936935 | 1 | Aug 24, 2021 |
LOC129994460 | 1 | Aug 24, 2021 |
LOC129995449 | 2 | Aug 24, 2021 |
LOC129996027 | 1 | Aug 24, 2021 |
LOC129997480 | 1 | Aug 24, 2021 |
LOC129997936 | 1 | Aug 24, 2021 |
LOC130001411 | 1 | Aug 24, 2021 |
LOC130001681 | 2 | Aug 24, 2021 |
LOC130001862 | 1 | Aug 24, 2021 |
LOC130002133 | 2 | Dec 16, 2021 |
LOC130002223 | 1 | Aug 24, 2021 |
LOC130004614 | 1 | Aug 24, 2021 |
LOC130005119 | 1 | Aug 24, 2021 |
LOC130005443 | 1 | Aug 24, 2021 |
LOC130006206 | 2 | Aug 24, 2021 |
LOC130006895 | 1 | Aug 24, 2021 |
LOC130006953 | 1 | Aug 24, 2021 |
LOC130008791 | 2 | Apr 9, 2018 |
LOC130008792 | 2 | Apr 9, 2018 |
LOC130009266 | 1 | Aug 24, 2021 |
LOC130009751 | 1 | Aug 24, 2021 |
LOC130009913 | 3 | Aug 24, 2021 |
LOC130055850 | 1 | Aug 24, 2021 |
LOC130057019 | 1 | Aug 24, 2021 |
LOC130058037 | 1 | Aug 24, 2021 |
LOC130059718 | 1 | Apr 9, 2018 |
LOC130059891 | 2 | Dec 16, 2021 |
LOC130060903 | 1 | Aug 24, 2021 |
LOC130061310 | 1 | Oct 15, 2021 |
LOC130062899 | 1 | Aug 24, 2021 |
LOC130065345 | 2 | Aug 24, 2021 |
LOC130068339 | 1 | Aug 24, 2021 |
LOX | 1 | Oct 15, 2021 |
LRBA | 1 | Dec 16, 2021 |
LRP2 | 1 | Oct 15, 2021 |
LRP5 | 33 | Dec 16, 2021 |
LRRC56 | 1 | Aug 24, 2021 |
LRRC8A | 1 | Dec 16, 2021 |
LRRK2 | 23 | Aug 24, 2021 |
LTBP2 | 6 | Dec 16, 2021 |
LTBP3 | 3 | Dec 16, 2021 |
LTBP4 | 6 | Aug 24, 2021 |
LZTR1 | 6 | Aug 24, 2021 |
MAGEL2 | 1 | Aug 24, 2021 |
MAP2K1 | 1 | Aug 24, 2021 |
MAP3K7 | 1 | Aug 24, 2021 |
MAP3K8 | 1 | Aug 24, 2021 |
MAPT | 23 | Oct 15, 2021 |
MAT2A | 1 | Oct 15, 2021 |
MAX | 2 | Aug 24, 2021 |
MBD4 | 1 | Dec 16, 2021 |
MBTPS2 | 1 | Aug 24, 2021 |
MCFD2 | 1 | Aug 24, 2021 |
MCHR1 | 1 | Aug 24, 2021 |
MCM9 | 2 | Dec 16, 2021 |
MCOLN1 | 1 | Aug 24, 2021 |
MECP2 | 3 | Aug 24, 2021 |
MEFV | 2 | Aug 24, 2021 |
MEN1 | 4 | Aug 24, 2021 |
MET | 8 | Aug 24, 2021 |
METTL23 | 1 | Oct 15, 2021 |
MFAP5 | 1 | Aug 24, 2021 |
MFRP | 2 | Aug 24, 2021 |
MICU1 | 1 | Aug 24, 2021 |
MINK1 | 1 | Dec 16, 2021 |
MIR6084 | 1 | Aug 24, 2021 |
MIR6886 | 1 | Aug 24, 2021 |
MITF | 4 | Oct 15, 2021 |
MKKS | 3 | Aug 24, 2021 |
MKS1 | 1 | Aug 24, 2021 |
MLH1 | 21 | Oct 15, 2021 |
MLH3 | 1 | Oct 15, 2021 |
MMACHC | 1 | Aug 24, 2021 |
MOCS1 | 1 | Aug 24, 2021 |
MRE11 | 5 | Dec 16, 2021 |
MSH2 | 21 | Aug 24, 2021 |
MSH3 | 4 | Oct 15, 2021 |
MSH6 | 25 | Oct 15, 2021 |
MTHFR | 1 | Aug 24, 2021 |
MTMR10 | 3 | Dec 16, 2021 |
MUS81 | 1 | Apr 9, 2018 |
MUSK | 2 | Aug 24, 2021 |
MUTYH | 11 | Oct 15, 2021 |
MVK | 1 | Aug 24, 2021 |
MVP-DT | 2 | Dec 16, 2021 |
MYBPC3 | 3 | Aug 24, 2021 |
MYCN | 1 | Aug 24, 2021 |
MYCNOS | 1 | Aug 24, 2021 |
MYH11 | 60 | Dec 16, 2021 |
MYH2 | 3 | Aug 24, 2021 |
MYH6 | 1 | Aug 24, 2021 |
MYH7 | 1 | Aug 24, 2021 |
MYHAS | 3 | Aug 24, 2021 |
MYLK | 54 | Aug 24, 2021 |
MYLK-AS1 | 4 | Aug 24, 2021 |
MYO5B | 1 | Aug 24, 2021 |
MYORG | 1 | Aug 24, 2021 |
MYOT | 1 | Aug 24, 2021 |
NAA38 | 1 | Aug 24, 2021 |
NAGLU | 2 | Aug 24, 2021 |
NBAS | 15 | Dec 16, 2021 |
NBN | 10 | Dec 16, 2021 |
NDE1 | 28 | Dec 16, 2021 |
NDP | 1 | Aug 24, 2021 |
NDP-AS1 | 1 | Aug 24, 2021 |
NDUFS4 | 1 | Dec 16, 2021 |
NDUFS7 | 1 | Aug 24, 2021 |
NEB | 2 | Dec 16, 2021 |
NEFH | 8 | Apr 9, 2018 |
NF1 | 28 | Oct 15, 2021 |
NIPBL | 2 | Oct 15, 2021 |
NLGN3 | 1 | Oct 15, 2021 |
NLGN4X | 1 | Aug 24, 2021 |
NOTCH1 | 83 | Dec 16, 2021 |
NOTCH3 | 37 | Dec 16, 2021 |
NPC1 | 59 | Oct 15, 2021 |
NPC2 | 5 | Aug 24, 2021 |
NPHP3 | 1 | Aug 24, 2021 |
NPHP3-ACAD11 | 1 | Aug 24, 2021 |
NPHS2 | 1 | Aug 24, 2021 |
NPR2 | 1 | Dec 16, 2021 |
NSD1 | 1 | Aug 24, 2021 |
NTHL1 | 1 | Aug 24, 2021 |
OCA2 | 1 | Aug 24, 2021 |
ODAD1 | 1 | Aug 24, 2021 |
ODAD2 | 1 | Aug 24, 2021 |
OGG1 | 2 | Aug 24, 2021 |
OPTN | 5 | Aug 24, 2021 |
ORC6 | 1 | Aug 24, 2021 |
OSGEP | 2 | Aug 24, 2021 |
OTOGL | 1 | Apr 9, 2018 |
P3H1 | 3 | Aug 24, 2021 |
PACS1 | 1 | Apr 9, 2018 |
PAH | 3 | Aug 24, 2021 |
PAK6 | 1 | Dec 16, 2021 |
PALB2 | 32 | Dec 16, 2021 |
PANK2 | 3 | Dec 16, 2021 |
PARK7 | 2 | Aug 24, 2021 |
PAX5 | 1 | Dec 16, 2021 |
PAX6 | 1 | Aug 24, 2021 |
PCCA | 1 | Oct 15, 2021 |
PCCB | 1 | Aug 24, 2021 |
PCDH19 | 2 | Aug 24, 2021 |
PCNT | 1 | Aug 24, 2021 |
PDGFB | 6 | Aug 24, 2021 |
PDGFRA | 3 | Aug 24, 2021 |
PDGFRB | 23 | Dec 16, 2021 |
PDHX | 1 | Aug 24, 2021 |
PDSS1 | 1 | Apr 9, 2018 |
PEX1 | 1 | Aug 24, 2021 |
PEX7 | 1 | Aug 24, 2021 |
PFN1 | 1 | Aug 24, 2021 |
PHKA1 | 2 | Aug 24, 2021 |
PHOX2B | 3 | Aug 24, 2021 |
PIGG | 1 | Aug 24, 2021 |
PIGN | 1 | Aug 24, 2021 |
PIK3CA | 6 | Aug 24, 2021 |
PIK3CD | 1 | Aug 24, 2021 |
PINK1 | 6 | Aug 24, 2021 |
PINK1-AS | 3 | Aug 24, 2021 |
PJVK | 1 | Aug 24, 2021 |
PKD2L2-DT | 1 | Aug 24, 2021 |
PKHD1 | 3 | Oct 15, 2021 |
PLA2G6 | 6 | Aug 24, 2021 |
PLEC | 4 | Aug 24, 2021 |
PLEKHG5 | 1 | Aug 24, 2021 |
PLG | 1 | Aug 24, 2021 |
PLOD1 | 22 | Dec 16, 2021 |
PLOD2 | 3 | Aug 24, 2021 |
PLOD3 | 1 | Aug 24, 2021 |
PLS3 | 2 | Aug 24, 2021 |
PMM2 | 4 | Aug 24, 2021 |
PMS2 | 22 | Oct 15, 2021 |
PNPLA1 | 1 | Aug 24, 2021 |
POLD1 | 26 | Aug 24, 2021 |
POLE | 42 | Oct 15, 2021 |
POLG | 11 | Aug 24, 2021 |
POLGARF | 11 | Aug 24, 2021 |
POLH | 3 | Dec 16, 2021 |
POLR1C | 3 | Dec 16, 2021 |
POLR3B | 1 | Apr 9, 2018 |
POMGNT1 | 1 | Aug 24, 2021 |
POT1 | 2 | Aug 24, 2021 |
PPT1 | 4 | Aug 24, 2021 |
PRADX | 2 | Apr 9, 2018 |
PRDM10 | 1 | Aug 24, 2021 |
PRDM5 | 1 | Aug 24, 2021 |
PRKAR1A | 1 | Dec 16, 2021 |
PRKAR1B | 10 | Dec 16, 2021 |
PRKG1 | 8 | Aug 24, 2021 |
PRKN | 6 | Aug 24, 2021 |
PRKRA | 3 | Aug 24, 2021 |
PRNP | 6 | Aug 24, 2021 |
PROK2 | 1 | Aug 24, 2021 |
PRPF31 | 1 | Aug 24, 2021 |
PRPF31-AS1 | 1 | Aug 24, 2021 |
PRPH | 2 | Aug 24, 2021 |
PRRT2 | 2 | Dec 16, 2021 |
PRX | 1 | Aug 24, 2021 |
PSEN1 | 5 | Dec 16, 2021 |
PSEN2 | 12 | Aug 24, 2021 |
PSENEN | 1 | Apr 9, 2018 |
PTBP1 | 1 | Aug 24, 2021 |
PTCH1 | 19 | Dec 16, 2021 |
PTCH2 | 7 | Dec 16, 2021 |
PTCHD3 | 1 | Aug 24, 2021 |
PTEN | 8 | Dec 16, 2021 |
PTPN11 | 5 | Dec 16, 2021 |
PTPRJ | 1 | Aug 24, 2021 |
PYCR1 | 2 | Aug 24, 2021 |
PYGM | 4 | Aug 24, 2021 |
RAB27A | 1 | Aug 24, 2021 |
RAD50 | 4 | Dec 16, 2021 |
RAD51C | 5 | Oct 15, 2021 |
RAD51D | 2 | Aug 24, 2021 |
RAD51L3-RFFL | 2 | Aug 24, 2021 |
RAF1 | 2 | Oct 15, 2021 |
RAG1 | 3 | Aug 24, 2021 |
RANBP2 | 1 | Aug 24, 2021 |
RAPSN | 1 | Aug 24, 2021 |
RARS2 | 1 | Aug 24, 2021 |
RB1 | 2 | Aug 24, 2021 |
RECQL4 | 19 | Dec 16, 2021 |
REEP1 | 2 | Oct 15, 2021 |
REST | 1 | Dec 16, 2021 |
RET | 5 | Aug 24, 2021 |
RHBDF2 | 5 | Aug 24, 2021 |
RIF1 | 2 | Dec 16, 2021 |
RIN2 | 3 | Aug 24, 2021 |
RIPPLY2 | 1 | Aug 24, 2021 |
RIPPLY2-CYB5R4 | 1 | Aug 24, 2021 |
RNASE4 | 1 | Aug 24, 2021 |
RNASEH2A | 1 | Aug 24, 2021 |
RNASEH2B | 1 | Aug 24, 2021 |
RNF43 | 4 | Dec 16, 2021 |
ROBO3 | 1 | Aug 24, 2021 |
RPL36A-HNRNPH2 | 1 | Aug 24, 2021 |
RSPH4A | 1 | Aug 24, 2021 |
RUNX1 | 1 | Apr 9, 2018 |
RYR1 | 8 | Dec 16, 2021 |
S100PBP | 1 | Aug 24, 2021 |
SACS | 1 | Aug 24, 2021 |
SAR1B | 1 | Aug 24, 2021 |
SATB2 | 3 | Aug 24, 2021 |
SBDS | 4 | Aug 24, 2021 |
SCAMP4 | 1 | Oct 15, 2021 |
SCARF2 | 10 | Aug 24, 2021 |
SCN1A | 2 | Aug 24, 2021 |
SCN1A-AS1 | 1 | Aug 24, 2021 |
SCN4A | 1 | Aug 24, 2021 |
SCN9A | 1 | Aug 24, 2021 |
SCNN1A | 1 | Aug 24, 2021 |
SDHA | 19 | Aug 24, 2021 |
SDHAF2 | 1 | Aug 24, 2021 |
SDHB | 10 | Dec 16, 2021 |
SDHC | 2 | Aug 24, 2021 |
SDHD | 4 | Aug 24, 2021 |
SEC24D | 3 | Dec 16, 2021 |
SELENON | 1 | Aug 24, 2021 |
SEPTIN9 | 1 | Aug 24, 2021 |
SERPINA1 | 1 | Aug 24, 2021 |
SERPINF1 | 3 | Dec 16, 2021 |
SERPINH1 | 6 | Aug 24, 2021 |
SERPINI1 | 8 | Aug 24, 2021 |
SETBP1 | 1 | Aug 24, 2021 |
SETX | 46 | Dec 16, 2021 |
SHANK2 | 1 | Dec 16, 2021 |
SIGMAR1 | 5 | Dec 16, 2021 |
SKI | 13 | Aug 24, 2021 |
SKIC3 | 1 | Aug 24, 2021 |
SLC18A2 | 2 | Aug 24, 2021 |
SLC19A1 | 9 | Aug 24, 2021 |
SLC20A2 | 15 | Aug 24, 2021 |
SLC24A1 | 1 | Aug 24, 2021 |
SLC25A13 | 2 | Aug 24, 2021 |
SLC26A1 | 1 | Aug 24, 2021 |
SLC26A2 | 3 | Aug 24, 2021 |
SLC26A4 | 1 | Aug 24, 2021 |
SLC2A1 | 2 | Aug 24, 2021 |
SLC2A10 | 10 | Aug 24, 2021 |
SLC30A10 | 1 | Aug 24, 2021 |
SLC39A13 | 2 | Aug 24, 2021 |
SLC3A1 | 1 | Aug 24, 2021 |
SLC6A1 | 1 | Aug 24, 2021 |
SLC6A19 | 1 | Aug 24, 2021 |
SLC6A3 | 6 | Aug 24, 2021 |
SLC6A8 | 1 | Aug 24, 2021 |
SLX4 | 10 | Dec 16, 2021 |
SMAD3 | 9 | Aug 24, 2021 |
SMAD4 | 8 | Dec 16, 2021 |
SMARCA4 | 12 | Dec 16, 2021 |
SMARCAL1 | 1 | Oct 15, 2021 |
SMARCB1 | 1 | Aug 24, 2021 |
SMPD1 | 1 | Aug 24, 2021 |
SNCA | 2 | Aug 24, 2021 |
SNCB | 2 | Aug 24, 2021 |
SOD1 | 2 | Dec 16, 2021 |
SOD1-DT | 1 | Dec 16, 2021 |
SORL1 | 25 | Aug 24, 2021 |
SORL1-AS1 | 1 | Aug 24, 2021 |
SOS1 | 8 | Aug 24, 2021 |
SOX5 | 1 | Aug 24, 2021 |
SP7 | 2 | Apr 9, 2018 |
SPAST | 2 | Dec 16, 2021 |
SPG11 | 43 | Dec 16, 2021 |
SPG7 | 2 | Aug 24, 2021 |
SPINK1 | 2 | Aug 24, 2021 |
SQSTM1 | 13 | Aug 24, 2021 |
SRCAP | 1 | Aug 24, 2021 |
SRD5A2 | 1 | Aug 24, 2021 |
SRFBP1 | 1 | Oct 15, 2021 |
SRGAP3 | 1 | Aug 24, 2021 |
STK11 | 14 | Dec 16, 2021 |
STXBP1 | 2 | Dec 16, 2021 |
SUFU | 4 | Aug 24, 2021 |
SUOX | 1 | Apr 9, 2018 |
SYNE1 | 5 | Aug 24, 2021 |
SYNGAP1 | 4 | Oct 15, 2021 |
SYNGAP1-AS1 | 4 | Oct 15, 2021 |
SYNJ1 | 6 | Aug 24, 2021 |
TAB2 | 1 | Dec 16, 2021 |
TAF1 | 2 | Aug 24, 2021 |
TAPT1 | 1 | Aug 24, 2021 |
TARDBP | 5 | Dec 16, 2021 |
TBK1 | 12 | Aug 24, 2021 |
TCAP | 1 | Aug 24, 2021 |
TENT5A | 1 | Aug 24, 2021 |
TERT | 10 | Dec 16, 2021 |
TFE3 | 1 | Aug 24, 2021 |
TGFB2 | 5 | Oct 15, 2021 |
TGFB3 | 6 | Dec 16, 2021 |
TGFBR1 | 9 | Oct 15, 2021 |
TGFBR2 | 13 | Dec 16, 2021 |
TGM1 | 1 | Aug 24, 2021 |
TH | 6 | Aug 24, 2021 |
TH2LCRR | 1 | Aug 24, 2021 |
THG1L | 1 | Aug 24, 2021 |
TK2 | 1 | Dec 16, 2021 |
TMEM106B | 1 | Aug 24, 2021 |
TMEM126B | 1 | Oct 15, 2021 |
TMEM127 | 1 | Aug 24, 2021 |
TMEM38B | 3 | Aug 24, 2021 |
TMPRSS3 | 1 | Aug 24, 2021 |
TMX2 | 1 | Aug 24, 2021 |
TMX2-CTNND1 | 1 | Aug 24, 2021 |
TNFRSF13B | 2 | Oct 15, 2021 |
TNNC1 | 1 | Aug 24, 2021 |
TNR | 1 | Aug 24, 2021 |
TNXB | 26 | Dec 16, 2021 |
TOE1 | 1 | Aug 24, 2021 |
TP53 | 5 | Aug 24, 2021 |
TPP1 | 2 | Aug 24, 2021 |
TRAPPC11 | 1 | Aug 24, 2021 |
TREM2 | 11 | Dec 16, 2021 |
TREX1 | 2 | Dec 16, 2021 |
TRIM22 | 1 | Dec 16, 2021 |
TRIM32 | 2 | Dec 16, 2021 |
TRIM37 | 4 | Dec 16, 2021 |
TRIO | 1 | Aug 24, 2021 |
TROAP-AS1 | 2 | Aug 24, 2021 |
TRPV4 | 2 | Aug 24, 2021 |
TSC1 | 17 | Oct 15, 2021 |
TSC2 | 47 | Dec 16, 2021 |
TSEN54 | 3 | Aug 24, 2021 |
TSPAN1 | 1 | Aug 24, 2021 |
TTBK2 | 1 | Aug 24, 2021 |
TTC21B | 1 | Aug 24, 2021 |
TTC21B-AS1 | 1 | Aug 24, 2021 |
TTC8 | 4 | Dec 16, 2021 |
TTN | 27 | Oct 15, 2021 |
TTN-AS1 | 15 | Oct 15, 2021 |
TUBA1A | 1 | Apr 9, 2018 |
TUBB3 | 1 | Aug 24, 2021 |
TWIST1 | 2 | Aug 24, 2021 |
TYROBP | 4 | Dec 16, 2021 |
UBAP1 | 1 | Aug 24, 2021 |
UBQLN2 | 3 | Aug 24, 2021 |
UCHL1 | 2 | Aug 24, 2021 |
UNC13A | 1 | Aug 24, 2021 |
UROD | 1 | Aug 24, 2021 |
USH2A | 1 | Aug 24, 2021 |
VAPB | 1 | Aug 24, 2021 |
VCAN | 7 | Dec 16, 2021 |
VCAN-AS1 | 3 | Aug 24, 2021 |
VCP | 16 | Dec 16, 2021 |
VHL | 4 | Aug 24, 2021 |
VPS13A | 34 | Dec 16, 2021 |
VPS13B | 1 | Dec 16, 2021 |
VPS35 | 3 | Dec 16, 2021 |
VPS54 | 5 | Aug 24, 2021 |
VRK2 | 1 | Aug 24, 2021 |
VSX2 | 1 | Aug 24, 2021 |
VWF | 2 | Aug 24, 2021 |
WAC | 1 | Dec 16, 2021 |
WAS | 2 | Dec 16, 2021 |
WDR45 | 1 | Aug 24, 2021 |
WFS1 | 3 | Dec 16, 2021 |
WNT10A | 1 | Aug 24, 2021 |
WRN | 11 | Aug 24, 2021 |
WT1 | 6 | Oct 15, 2021 |
XPC | 3 | Aug 24, 2021 |
XPR1 | 2 | Aug 24, 2021 |
XYLT1 | 2 | Oct 15, 2021 |
XYLT2 | 1 | Oct 15, 2021 |
YARS1 | 1 | Aug 24, 2021 |
YARS2 | 1 | Aug 24, 2021 |
ZBTB20 | 1 | Aug 24, 2021 |
ZBTB20-AS1 | 1 | Aug 24, 2021 |
ZC4H2 | 1 | Aug 24, 2021 |
ZDHHC24 | 1 | Aug 24, 2021 |
ZNF276 | 3 | Aug 24, 2021 |
ZNF469 | 51 | Dec 16, 2021 |
ZSWIM6 | 1 | Aug 24, 2021 |