Broad Institute Rare Disease Group (Broad Institute), Broad RDG
General information
Broad Institute Rare Disease Group, Broad RDG
Broad Institute
75 Ames St
Cambridge
Massachusetts
United States - 02142-1403
https://cmg.broadinstitute.org/
Organization ID: 506627
Broad Institute
75 Ames St
Cambridge
Massachusetts
United States - 02142-1403
https://cmg.broadinstitute.org/
Organization ID: 506627
Personnel
- Samantha Baxter, Genetic Counselor
Phone: 617-714-8012
Email: samantha@broadinstitute.org - Samantha Baxter, Genetic Counselor
Phone: 617-714-8012
Email: samantha@broadinstitute.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1898
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCA4 | 17 | Sep 29, 2021 |
ABCB7 | 1 | Oct 3, 2019 |
ABCC6 | 1 | Mar 10, 2020 |
ABCC8 | 6 | Mar 9, 2020 |
ABCD1 | 2 | May 4, 2022 |
ACAD8 | 1 | Mar 10, 2020 |
ACADS | 1 | Mar 10, 2020 |
ACSL4 | 1 | May 4, 2022 |
ACTA1 | 2 | May 4, 2022 |
ACTB | 1 | May 4, 2022 |
ACTG2 | 1 | Jun 27, 2018 |
ACTN2 | 1 | May 29, 2020 |
ACTN4 | 1 | Mar 10, 2020 |
ADA | 1 | Nov 17, 2020 |
ADARB1 | 2 | May 29, 2020 |
ADAT3 | 1 | Jun 27, 2018 |
ADGRG1 | 3 | May 4, 2022 |
ADSS1 | 1 | May 4, 2022 |
AGBL5 | 2 | Sep 29, 2021 |
AGTPBP1 | 2 | May 29, 2020 |
AGXT | 1 | Jun 27, 2018 |
AHDC1 | 1 | Oct 3, 2019 |
AHI1 | 6 | May 4, 2022 |
AIPL1 | 1 | Mar 10, 2020 |
ALDH3A2 | 3 | May 4, 2022 |
ALDH7A1 | 1 | May 4, 2022 |
ALG1 | 4 | May 4, 2022 |
ALMS1 | 8 | May 4, 2022 |
ALS2 | 4 | May 4, 2022 |
AMPD2 | 2 | May 4, 2022 |
AMT | 1 | May 4, 2022 |
ANK1 | 1 | Mar 10, 2020 |
ANK3 | 2 | May 4, 2022 |
ANO5 | 10 | May 29, 2020 |
ANTXR2 | 1 | Mar 10, 2020 |
AP3B2 | 2 | May 4, 2022 |
AP4E1 | 1 | Sep 26, 2018 |
APBB1 | 1 | Mar 9, 2020 |
APOA5 | 1 | Mar 9, 2020 |
APOB | 7 | Mar 9, 2020 |
AR | 1 | Mar 10, 2020 |
ARFGEF2 | 1 | Mar 10, 2020 |
ARHGEF18 | 2 | Oct 3, 2019 |
ARID1A | 1 | Sep 26, 2018 |
ARID1B | 2 | May 4, 2022 |
ARL6 | 1 | Sep 29, 2021 |
ARMC9 | 2 | May 4, 2022 |
ARSA | 1 | Oct 3, 2019 |
ARX | 1 | Sep 26, 2018 |
ASIC4-AS1 | 1 | Oct 3, 2019 |
ASL | 1 | Mar 10, 2020 |
ASNS | 6 | May 4, 2022 |
ASPA | 2 | Oct 3, 2019 |
ASPM | 9 | May 4, 2022 |
ASTN2 | 5 | Oct 3, 2019 |
ASXL3 | 2 | Oct 3, 2019 |
ATAD3A | 1 | May 4, 2022 |
ATM | 1 | Nov 21, 2018 |
ATP13A4 | 1 | Mar 10, 2020 |
ATP2B2 | 1 | Mar 10, 2020 |
ATP5MF-PTCD1 | 2 | Mar 10, 2020 |
ATP6V0A2 | 1 | Oct 3, 2019 |
ATP6V0A4 | 1 | Mar 10, 2020 |
ATP6V1B1 | 1 | Mar 10, 2020 |
ATP7B | 2 | Mar 9, 2020 |
ATP8A2 | 2 | May 4, 2022 |
ATPAF2 | 1 | Sep 26, 2018 |
ATRX | 4 | May 4, 2022 |
ATXN7L3-AS1 | 1 | May 29, 2020 |
AUTS2 | 1 | May 4, 2022 |
B3GALNT2 | 1 | Sep 26, 2018 |
B3GALT6 | 2 | Nov 17, 2020 |
B4GALNT1 | 1 | Nov 21, 2018 |
B9D1 | 1 | May 4, 2022 |
BAG3 | 1 | Sep 26, 2018 |
BBS1 | 7 | May 4, 2022 |
BBS2 | 10 | May 4, 2022 |
BBS4 | 4 | May 4, 2022 |
BBS5 | 1 | Sep 26, 2018 |
BCKDHA | 1 | Mar 10, 2020 |
BCL11B | 1 | May 29, 2020 |
BET1 | 2 | Feb 28, 2019 |
BLM | 1 | Oct 3, 2019 |
BOLA3 | 1 | May 4, 2022 |
BRAT1 | 1 | May 4, 2022 |
BRCA1 | 3 | Mar 9, 2020 |
BRCA2 | 3 | Mar 9, 2020 |
BTD | 1 | Mar 10, 2020 |
BVES | 1 | May 29, 2020 |
C11orf65 | 1 | Nov 21, 2018 |
C12orf43 | 2 | Mar 9, 2020 |
C12orf57 | 1 | May 4, 2022 |
C17orf107 | 1 | May 4, 2022 |
C1QTNF5 | 2 | Oct 3, 2019 |
C2CD3 | 1 | May 4, 2022 |
CACNA1A | 1 | Nov 21, 2018 |
CACNA1F | 1 | Sep 29, 2021 |
CACNA1S | 1 | May 29, 2020 |
CAPN3 | 29 | Oct 3, 2019 |
CASK | 5 | May 4, 2022 |
CASP10 | 1 | Mar 10, 2020 |
CAT | 1 | Mar 10, 2020 |
CC2D2A | 3 | May 4, 2022 |
CCN6 | 1 | Mar 10, 2020 |
CCND2 | 1 | Oct 3, 2019 |
CCNH | 1 | Mar 10, 2020 |
CD46 | 1 | Mar 10, 2020 |
CDAN1 | 1 | May 4, 2022 |
CDH2 | 1 | May 29, 2020 |
CDHR1 | 8 | May 4, 2022 |
CDK10 | 1 | Oct 3, 2019 |
CDKL5 | 1 | May 4, 2022 |
CDKN2A | 1 | Mar 10, 2020 |
CEL | 2 | Mar 9, 2020 |
CELSR1 | 2 | Nov 17, 2020 |
CENPE | 1 | May 4, 2022 |
CENPJ | 2 | May 4, 2022 |
CEP104 | 1 | Nov 21, 2018 |
CEP290 | 10 | May 4, 2022 |
CERKL | 6 | May 4, 2022 |
CETP | 1 | Mar 10, 2020 |
CFAP410 | 1 | Sep 29, 2021 |
CFAP418 | 2 | May 4, 2022 |
CFAP418-AS1 | 2 | May 4, 2022 |
CFTR | 1 | Mar 10, 2020 |
CHAT | 3 | May 4, 2022 |
CHD7 | 2 | Oct 3, 2019 |
CHN1 | 1 | Nov 17, 2020 |
CHRNB2 | 1 | Mar 10, 2020 |
CHRND | 4 | May 4, 2022 |
CHRNE | 1 | May 4, 2022 |
CHST3 | 1 | Nov 21, 2018 |
CLCN1 | 2 | May 4, 2022 |
CLCN5 | 2 | Mar 10, 2020 |
CLCNKB | 1 | Mar 10, 2020 |
CLN3 | 2 | May 4, 2022 |
CLN5 | 2 | May 4, 2022 |
CLN6 | 6 | Mar 10, 2020 |
CLN8 | 3 | May 4, 2022 |
CLP1 | 1 | Oct 3, 2019 |
CLPB | 2 | May 4, 2022 |
CLRN1 | 2 | May 4, 2022 |
CLRN1-AS1 | 2 | May 4, 2022 |
CLTCL1 | 1 | Mar 10, 2020 |
CNGA1 | 2 | Sep 29, 2021 |
CNGA3 | 1 | Mar 10, 2020 |
CNGB1 | 5 | Sep 29, 2021 |
CNGB3 | 1 | Mar 10, 2020 |
CNKSR1 | 1 | Mar 10, 2020 |
CNNM4 | 1 | Sep 29, 2021 |
CNTNAP1 | 1 | Sep 26, 2018 |
COG5 | 3 | Nov 17, 2020 |
COL12A1 | 1 | May 4, 2022 |
COL13A1 | 2 | May 29, 2020 |
COL4A1 | 3 | May 4, 2022 |
COL4A5 | 3 | May 4, 2022 |
COL6A1 | 1 | Sep 26, 2018 |
COL6A2 | 6 | May 4, 2022 |
COL6A3 | 5 | May 4, 2022 |
COLQ | 3 | May 4, 2022 |
COQ2 | 2 | Oct 3, 2019 |
COQ8A | 1 | Mar 10, 2020 |
CPEB1-AS1 | 2 | May 4, 2022 |
CPLANE1 | 8 | Oct 3, 2019 |
CPS1 | 1 | Mar 10, 2020 |
CRB1 | 11 | May 4, 2022 |
CRPPA | 1 | Oct 3, 2019 |
CRX | 2 | Mar 10, 2020 |
CRYGC | 2 | Mar 10, 2020 |
CRYGD | 1 | Mar 10, 2020 |
CWF19L1 | 1 | Oct 3, 2019 |
CYFIP2 | 1 | May 29, 2020 |
CYP1B1 | 1 | Mar 10, 2020 |
CYP27A1 | 1 | Mar 10, 2020 |
CYP2U1 | 1 | Sep 26, 2018 |
CYP7B1 | 1 | Nov 21, 2018 |
CZ1P-ASNS | 6 | May 4, 2022 |
DCX | 1 | Nov 21, 2018 |
DDC | 1 | Nov 21, 2018 |
DEGS1 | 1 | May 29, 2020 |
DES | 2 | Mar 10, 2020 |
DHDDS | 4 | May 4, 2022 |
DIAPH1 | 1 | Nov 21, 2018 |
DMC1 | 1 | Mar 10, 2020 |
DMD | 2 | Nov 17, 2020 |
DNAJB6 | 1 | Sep 26, 2018 |
DNAJC21 | 1 | Oct 3, 2019 |
DSP | 1 | Mar 9, 2020 |
DUOX2 | 1 | Mar 10, 2020 |
DYNC1I2 | 2 | May 29, 2020 |
DYSF | 24 | Oct 3, 2019 |
EBF3 | 2 | Nov 17, 2020 |
ECHS1 | 2 | Nov 17, 2020 |
ECI1 | 1 | Mar 10, 2020 |
EDN3 | 1 | Mar 10, 2020 |
EDNRB | 1 | Mar 10, 2020 |
EDNRB-AS1 | 1 | Mar 10, 2020 |
EFHC2 | 1 | Mar 10, 2020 |
EIF2AK2 | 1 | Mar 11, 2020 |
ENG | 1 | Mar 10, 2020 |
ENPP1 | 1 | Mar 10, 2020 |
EP300 | 1 | May 29, 2020 |
EPCAM | 1 | Nov 21, 2018 |
EPOR | 1 | Mar 10, 2020 |
ERCC6L2 | 1 | Oct 3, 2019 |
EXOSC3 | 1 | Oct 3, 2019 |
EXOSC8 | 2 | Oct 3, 2019 |
EXOSC9 | 2 | Oct 5, 2020 |
EYS | 22 | Sep 29, 2021 |
F8 | 1 | Mar 10, 2020 |
FAM126A | 1 | Sep 26, 2018 |
FAM161A | 2 | Sep 29, 2021 |
FAT4 | 2 | Oct 3, 2019 |
FBN1 | 2 | Mar 9, 2020 |
FBXL3 | 1 | Oct 3, 2019 |
FBXL4 | 1 | Nov 21, 2018 |
FIG4 | 2 | May 29, 2020 |
FKBP14 | 1 | Nov 21, 2018 |
FKBP14-AS1 | 1 | Nov 21, 2018 |
FKRP | 2 | May 29, 2020 |
FLNC | 2 | Oct 3, 2019 |
FLNC-AS1 | 1 | Oct 3, 2019 |
FLVCR1 | 2 | Sep 29, 2021 |
FOLR1 | 1 | Mar 10, 2020 |
FOXC1 | 1 | Nov 17, 2020 |
FRAS1 | 1 | Mar 10, 2020 |
FRMPD4 | 1 | Nov 21, 2018 |
FUCA1 | 1 | Nov 21, 2018 |
FUT2 | 1 | Mar 10, 2020 |
FUT6 | 3 | Mar 10, 2020 |
FXR1 | 3 | Nov 17, 2020 |
FZD4 | 1 | Mar 10, 2020 |
G6PD | 2 | Mar 10, 2020 |
GAA | 211 | Mar 9, 2020 |
GALC | 3 | Mar 10, 2020 |
GAMT | 28 | Nov 2, 2021 |
GATA3 | 1 | May 29, 2020 |
GATA4 | 1 | Mar 10, 2020 |
GBA | 45 | Mar 9, 2020 |
GBE1 | 47 | Feb 11, 2022 |
GCK | 27 | Mar 9, 2020 |
GCKR | 1 | Mar 10, 2020 |
GH-LCR | 2 | Mar 10, 2020 |
GJC2 | 1 | Nov 21, 2018 |
GLA | 29 | Mar 9, 2020 |
GLDC | 1 | Mar 10, 2020 |
GLDN | 2 | Oct 3, 2019 |
GLI2 | 1 | Mar 10, 2020 |
GLRA1 | 1 | Mar 10, 2020 |
GNAO1 | 1 | Sep 26, 2018 |
GNAS | 1 | Sep 26, 2018 |
GNAT1 | 1 | Sep 29, 2021 |
GNB1 | 1 | May 4, 2022 |
GNPTAB | 1 | Mar 10, 2020 |
GOT2 | 2 | May 29, 2020 |
GPHN | 7 | May 29, 2020 |
GREB1L | 1 | May 29, 2020 |
GRIN1 | 1 | Oct 3, 2019 |
GUCY2D | 1 | Sep 29, 2021 |
H1-4 | 1 | Oct 3, 2019 |
H3-3B | 1 | Nov 17, 2020 |
HADH | 9 | Nov 2, 2021 |
HEXA | 1 | Mar 10, 2020 |
HGSNAT | 2 | Sep 29, 2021 |
HIBCH | 1 | Nov 21, 2018 |
HK1 | 2 | May 29, 2020 |
HNF1A | 42 | Mar 9, 2020 |
HNF1B | 12 | May 29, 2020 |
HNF4A | 12 | Mar 10, 2020 |
HNRNPU | 1 | May 29, 2020 |
HOXB1 | 1 | Sep 26, 2018 |
HPS1 | 30 | Feb 11, 2022 |
HR | 2 | Mar 10, 2020 |
HS6ST1 | 1 | Mar 10, 2020 |
HSD11B1 | 1 | Mar 10, 2020 |
HSD11B1-AS1 | 1 | Mar 10, 2020 |
HSPB8 | 1 | May 29, 2020 |
HSPG2 | 2 | Nov 21, 2018 |
HTRA2 | 1 | Mar 10, 2020 |
IDH3A | 2 | Sep 29, 2021 |
IDUA | 34 | Mar 9, 2020 |
IFIH1 | 1 | Jun 27, 2018 |
IFT140 | 4 | Sep 29, 2021 |
IFT172 | 3 | Sep 29, 2021 |
INCA1 | 2 | Oct 3, 2019 |
INHA | 1 | Mar 10, 2020 |
INPP5E | 3 | Nov 17, 2020 |
INSR | 1 | Mar 10, 2020 |
IRF2BPL | 1 | Nov 17, 2020 |
ITGA2 | 1 | Mar 10, 2020 |
ITPR1 | 1 | Oct 3, 2019 |
KAT6B | 1 | May 29, 2020 |
KCNB1 | 1 | Nov 21, 2018 |
KCNJ10 | 1 | Mar 10, 2020 |
KCNQ1 | 1 | Mar 9, 2020 |
KDM5C | 1 | Oct 3, 2019 |
KDM8 | 2 | Nov 17, 2020 |
KIF11 | 2 | Sep 29, 2021 |
KIF14 | 1 | May 29, 2020 |
KIF1A | 1 | Oct 3, 2019 |
KIF1C | 2 | Oct 3, 2019 |
KIF5B | 1 | Nov 17, 2020 |
KIT | 1 | Mar 10, 2020 |
KIZ | 1 | Nov 17, 2020 |
KLF9-DT | 1 | Nov 17, 2020 |
KLHL7 | 1 | Sep 29, 2021 |
KMT2D | 2 | May 29, 2020 |
KMT2E | 32 | Feb 11, 2019 |
KRT8 | 1 | Mar 10, 2020 |
KRTCAP3 | 1 | Sep 29, 2021 |
LAMA2 | 3 | Nov 17, 2020 |
LAMA5 | 1 | Nov 17, 2020 |
LAMB2 | 1 | Sep 26, 2018 |
LAMC3 | 2 | Oct 3, 2019 |
LCA5 | 1 | Sep 29, 2021 |
LDLR | 65 | Mar 9, 2020 |
LDLR-AS1 | 1 | Mar 9, 2020 |
LIX1L-AS1 | 1 | Oct 3, 2019 |
LMNA | 5 | Mar 9, 2020 |
LMNB2 | 1 | Mar 10, 2020 |
LOC100507443 | 3 | Mar 10, 2020 |
LOC101927157 | 2 | Sep 29, 2021 |
LOC105371046 | 2 | Sep 29, 2021 |
LOC105447645 | 1 | Mar 10, 2020 |
LOC106501713 | 1 | Mar 10, 2020 |
LOC106627981 | 42 | Mar 9, 2020 |
LOC110121269 | 1 | Mar 9, 2020 |
LONP1 | 2 | Oct 3, 2019 |
LOXL3 | 1 | Mar 10, 2020 |
LPA | 1 | Mar 10, 2020 |
LPIN2 | 1 | Mar 10, 2020 |
LPL | 5 | Mar 9, 2020 |
LRRK2 | 1 | Mar 10, 2020 |
LSM1 | 1 | May 29, 2020 |
LYST | 2 | Oct 3, 2019 |
LYZ | 1 | Mar 10, 2020 |
LZTR1 | 2 | Nov 17, 2020 |
MACF1 | 1 | May 4, 2022 |
MAFB | 1 | Oct 3, 2019 |
MAGEL2 | 1 | May 29, 2020 |
MAMLD1 | 1 | Mar 10, 2020 |
MBOAT7 | 1 | May 29, 2020 |
MC4R | 13 | Mar 9, 2020 |
MCEE | 1 | Mar 10, 2020 |
MCM3AP | 2 | Nov 17, 2020 |
MCM3AP-AS1 | 1 | Nov 17, 2020 |
MCOLN1 | 1 | Nov 21, 2018 |
MECOM | 1 | Oct 3, 2019 |
MEFV | 2 | Mar 10, 2020 |
MERTK | 4 | Sep 29, 2021 |
MFRP | 2 | Oct 3, 2019 |
MFSD8 | 1 | Oct 3, 2019 |
MGAT2 | 2 | Sep 26, 2018 |
MHRT | 1 | Oct 3, 2019 |
MILR1 | 1 | Mar 10, 2020 |
MLC1 | 2 | Nov 21, 2018 |
MOCS2 | 1 | Oct 3, 2019 |
MPO | 1 | Mar 10, 2020 |
MSH2 | 1 | Mar 9, 2020 |
MSR1 | 1 | Mar 10, 2020 |
MSTO1 | 5 | May 29, 2020 |
MVK | 1 | Mar 10, 2020 |
MYBPC3 | 2 | Oct 3, 2019 |
MYH7 | 3 | Nov 17, 2020 |
MYMK | 3 | Nov 17, 2020 |
MYPN | 1 | Mar 10, 2020 |
MYRF | 1 | May 29, 2020 |
NALCN | 1 | Oct 3, 2019 |
NCF2 | 1 | Mar 10, 2020 |
NDUFA12 | 1 | Oct 3, 2019 |
NDUFAF6 | 1 | Oct 3, 2019 |
NDUFV1 | 3 | Nov 17, 2020 |
NEB | 6 | Oct 3, 2019 |
NF1 | 1 | Mar 10, 2020 |
NF2 | 1 | Mar 9, 2020 |
NHLRC1 | 1 | Oct 3, 2019 |
NKX2-5 | 2 | Mar 10, 2020 |
NLRP14 | 2 | Mar 10, 2020 |
NOTCH2 | 2 | May 29, 2020 |
NPC1 | 2 | Oct 3, 2019 |
NPHP1 | 1 | Mar 10, 2020 |
NPHP3 | 3 | Sep 26, 2018 |
NPHP3-ACAD11 | 5 | Sep 26, 2018 |
NPHP4 | 3 | Sep 29, 2021 |
NPHS1 | 7 | Mar 10, 2020 |
NPHS2 | 2 | Oct 3, 2019 |
NR2E3 | 2 | Sep 29, 2021 |
NRL | 2 | Sep 29, 2021 |
NSUN2 | 1 | Nov 21, 2018 |
NTF4 | 1 | Mar 10, 2020 |
NTNG2 | 2 | May 29, 2020 |
NUP93 | 3 | Oct 3, 2019 |
OCLN | 1 | Oct 3, 2019 |
OFD1 | 2 | May 29, 2020 |
OGT | 1 | May 29, 2020 |
OTC | 1 | Mar 9, 2020 |
OTOF | 1 | Mar 10, 2020 |
PAFAH1B1 | 2 | Jun 27, 2018 |
PARK7 | 1 | Mar 10, 2020 |
PAX2 | 1 | Jul 1, 2017 |
PCARE | 4 | Sep 29, 2021 |
PCDH12 | 2 | May 29, 2020 |
PCDH19 | 1 | Nov 21, 2018 |
PCGF2 | 1 | Mar 6, 2019 |
PCLO | 1 | Nov 21, 2018 |
PCNT | 1 | Mar 10, 2020 |
PCSK9 | 4 | Mar 9, 2020 |
PDE11A | 1 | Mar 10, 2020 |
PDE6A | 5 | Sep 29, 2021 |
PDE6B | 16 | Sep 29, 2021 |
PDE6B-AS1 | 4 | Sep 29, 2021 |
PDX1 | 6 | Mar 10, 2020 |
PEX10 | 1 | Mar 10, 2020 |
PEX16 | 1 | Oct 3, 2019 |
PGAP3 | 1 | Nov 21, 2018 |
PHF3 | 5 | Sep 29, 2021 |
PHGDH | 1 | Sep 26, 2018 |
PHKB | 1 | Mar 10, 2020 |
PHYH | 3 | Sep 29, 2021 |
PKD1 | 3 | Oct 3, 2019 |
PKD2 | 1 | Mar 10, 2020 |
PKHD1 | 2 | Jun 27, 2018 |
PKLR | 1 | Mar 10, 2020 |
PLA2G6 | 2 | Nov 21, 2018 |
PLCB1 | 1 | Oct 3, 2019 |
PLCB4 | 1 | Sep 26, 2018 |
PLCE1 | 1 | Sep 26, 2018 |
PLCE1-AS1 | 1 | Sep 26, 2018 |
PLEC | 1 | Mar 10, 2020 |
PLP1 | 1 | Mar 10, 2020 |
PLUT | 4 | Mar 9, 2020 |
PMM2 | 1 | Nov 21, 2018 |
PNKP | 1 | Oct 3, 2019 |
PNPLA7 | 2 | Nov 17, 2020 |
PNPT1 | 2 | Jun 27, 2018 |
POC1B | 1 | Jun 27, 2018 |
POLG2 | 1 | Mar 10, 2020 |
POMGNT1 | 2 | Sep 29, 2021 |
POMK | 2 | Oct 3, 2019 |
POMT1 | 2 | Oct 3, 2019 |
POMT2 | 3 | Oct 3, 2019 |
PORCN | 1 | Oct 3, 2019 |
PPARG | 2 | Mar 9, 2020 |
PPT1 | 5 | Sep 29, 2021 |
PRDM16 | 1 | Mar 10, 2020 |
PRDM2 | 1 | Mar 10, 2020 |
PRF1 | 1 | Mar 10, 2020 |
PRKAG2 | 1 | Mar 10, 2020 |
PRKN | 2 | Mar 10, 2020 |
PROM1 | 1 | Sep 29, 2021 |
PROS1 | 1 | Mar 10, 2020 |
PRPF3 | 1 | Sep 29, 2021 |
PRPF31 | 8 | Sep 29, 2021 |
PRPF31-AS1 | 3 | Sep 29, 2021 |
PRPF8 | 4 | Sep 29, 2021 |
PRPH2 | 1 | Sep 29, 2021 |
PRPS1 | 1 | Nov 21, 2018 |
PRUNE1 | 1 | Oct 3, 2019 |
PSAP | 2 | Oct 3, 2019 |
PTCD1 | 2 | Mar 10, 2020 |
PTPN11 | 1 | Oct 3, 2019 |
PYCR2 | 1 | Jun 27, 2018 |
PYROXD1 | 1 | May 29, 2020 |
RAB3GAP1 | 1 | Nov 21, 2018 |
RAB9B | 1 | Mar 10, 2020 |
RARS1 | 1 | Nov 21, 2018 |
RASA1 | 1 | Mar 10, 2020 |
RBM8A | 1 | Oct 3, 2019 |
RDH12 | 7 | May 29, 2020 |
RERE | 1 | Oct 3, 2019 |
RGS9 | 1 | Sep 26, 2018 |
RHAG | 1 | Mar 10, 2020 |
RHO | 4 | Sep 29, 2021 |
RIF1 | 2 | Oct 3, 2019 |
RIT1 | 1 | Oct 3, 2019 |
RNASEH2B | 1 | Nov 21, 2018 |
RNASET2 | 1 | Oct 3, 2019 |
RNF14 | 2 | May 29, 2020 |
RORA | 1 | May 29, 2020 |
RORA-AS1 | 1 | May 29, 2020 |
RP1 | 6 | Sep 29, 2021 |
RP2 | 1 | Mar 10, 2020 |
RPE65 | 4 | Sep 29, 2021 |
RPGR | 24 | Sep 29, 2021 |
RPGRIP1 | 9 | Sep 29, 2021 |
RPGRIP1L | 1 | Sep 26, 2018 |
RPL11 | 1 | May 4, 2022 |
RPL36A-HNRNPH2 | 29 | Mar 9, 2020 |
RPS19 | 1 | Mar 10, 2020 |
RPS29 | 1 | Oct 3, 2019 |
RTN4IP1 | 1 | May 13, 2020 |
RYR1 | 11 | Nov 17, 2020 |
RYR2 | 3 | Mar 9, 2020 |
SALL1 | 1 | May 29, 2020 |
SAMD11 | 2 | Sep 29, 2021 |
SAMD9L | 1 | Oct 3, 2019 |
SAMHD1 | 1 | Oct 3, 2019 |
SCAMP4 | 1 | Jun 27, 2018 |
SCN1A-AS1 | 2 | Mar 10, 2020 |
SCN4A | 2 | Mar 10, 2020 |
SCN5A | 2 | Mar 9, 2020 |
SCN9A | 2 | Mar 10, 2020 |
SDCCAG8 | 2 | Sep 26, 2018 |
SDHD | 1 | Mar 9, 2020 |
SELENON | 1 | May 4, 2022 |
SEPSECS | 1 | Nov 21, 2018 |
SERPINA10 | 1 | Mar 10, 2020 |
SGCA | 3 | Oct 3, 2019 |
SGCB | 3 | Oct 3, 2019 |
SGCG | 3 | Oct 3, 2019 |
SHANK3 | 1 | Nov 21, 2018 |
SHOC2 | 1 | Oct 3, 2019 |
SIL1 | 1 | Mar 10, 2020 |
SLC12A3 | 4 | Mar 10, 2020 |
SLC12A5 | 1 | Mar 10, 2020 |
SLC13A5 | 15 | Nov 2, 2021 |
SLC16A2 | 1 | Oct 3, 2019 |
SLC18A3 | 1 | May 29, 2020 |
SLC19A3 | 1 | Sep 26, 2018 |
SLC24A2 | 1 | Mar 10, 2020 |
SLC25A22 | 1 | Oct 3, 2019 |
SLC25A4 | 1 | Sep 26, 2018 |
SLC26A1 | 9 | Mar 9, 2020 |
SLC26A2 | 2 | Mar 10, 2020 |
SLC26A4 | 2 | Mar 10, 2020 |
SLC2A1 | 2 | May 4, 2022 |
SLC35C1 | 1 | Nov 21, 2018 |
SLC39A14 | 1 | Nov 17, 2020 |
SLC39A8 | 1 | Sep 26, 2018 |
SLC4A1 | 1 | Mar 10, 2020 |
SLC6A5 | 1 | Mar 10, 2020 |
SLC6A8 | 1 | Mar 10, 2020 |
SMAD3 | 1 | Mar 9, 2020 |
SMAD4 | 1 | Jul 1, 2017 |
SMARCAL1 | 2 | Jul 1, 2017 |
SMPD1 | 55 | Mar 9, 2020 |
SMPD4 | 1 | May 29, 2020 |
SNRNP200 | 3 | Sep 29, 2021 |
SNX14 | 1 | Sep 26, 2018 |
SOS1 | 1 | Mar 10, 2020 |
SPATA22 | 2 | Oct 3, 2019 |
SPEG | 2 | Oct 3, 2019 |
SPG11 | 5 | Mar 10, 2020 |
SPINK1 | 1 | Mar 10, 2020 |
SPR | 1 | Sep 26, 2018 |
SPTA1 | 1 | Oct 3, 2019 |
SPTB | 2 | Oct 3, 2019 |
SPTLC1 | 1 | Nov 17, 2020 |
SRCAP | 1 | Sep 26, 2018 |
SRGAP1 | 2 | May 29, 2020 |
SRPK2 | 6 | Feb 11, 2019 |
STAC3 | 1 | Sep 26, 2018 |
STK11 | 1 | Mar 9, 2020 |
SURF1 | 1 | Sep 26, 2018 |
SYNGR1 | 1 | Mar 10, 2020 |
SYT1 | 1 | May 29, 2020 |
SZT2 | 2 | Oct 3, 2019 |
TACO1 | 1 | Oct 3, 2019 |
TAF1 | 1 | Sep 26, 2018 |
TANGO2 | 11 | Nov 2, 2021 |
TBC1D23 | 1 | May 29, 2020 |
TBC1D8B | 1 | May 29, 2020 |
TBCD | 6 | Nov 17, 2020 |
TCAP | 2 | Mar 10, 2020 |
TCTN1 | 2 | Sep 26, 2018 |
TGM1 | 1 | Mar 10, 2020 |
THOC2 | 1 | Sep 26, 2018 |
TLK2 | 1 | May 29, 2020 |
TMEM231 | 1 | Sep 26, 2018 |
TMEM237 | 2 | Sep 26, 2018 |
TMEM67 | 8 | Oct 3, 2019 |
TMPO | 1 | Mar 10, 2020 |
TNK2 | 1 | Mar 10, 2020 |
TNNI3 | 1 | Oct 3, 2019 |
TNNT2 | 1 | Oct 3, 2019 |
TOPORS | 1 | Sep 29, 2021 |
TP63 | 1 | Jul 1, 2017 |
TPM1 | 2 | Oct 3, 2019 |
TPP1 | 1 | Oct 3, 2019 |
TRAPPC11 | 2 | May 29, 2020 |
TRAPPC2L | 1 | Nov 17, 2020 |
TRAPPC4 | 1 | Nov 17, 2020 |
TRIM32 | 5 | Oct 3, 2019 |
TRIM37 | 2 | Nov 17, 2020 |
TRIP4 | 1 | May 29, 2020 |
TRIT1 | 1 | May 4, 2022 |
TRPM1 | 1 | Sep 26, 2018 |
TRPM3 | 1 | Nov 17, 2020 |
TRPV4 | 1 | Mar 10, 2020 |
TSC2 | 1 | Mar 9, 2020 |
TSEN54 | 1 | Oct 3, 2019 |
TSPAN1 | 2 | Sep 29, 2021 |
TTC21B | 3 | Mar 10, 2020 |
TTC21B-AS1 | 1 | Jul 1, 2017 |
TTN | 16 | Oct 3, 2019 |
TTN-AS1 | 10 | Oct 3, 2019 |
TUBA1A | 3 | Oct 3, 2019 |
TUBB2A | 1 | Oct 3, 2019 |
TUBG1 | 1 | Oct 3, 2019 |
TULP1 | 6 | Sep 29, 2021 |
UBA5 | 2 | Jun 27, 2018 |
UBTF | 1 | May 29, 2020 |
UNC80 | 1 | Nov 21, 2018 |
USH2A | 45 | Sep 29, 2021 |
USH2A-AS1 | 3 | Sep 29, 2021 |
USH2A-AS2 | 2 | Sep 29, 2021 |
UTP4 | 1 | Mar 10, 2020 |
VARS1 | 1 | May 29, 2020 |
VDR | 1 | Sep 26, 2018 |
VLDLR | 2 | Oct 3, 2019 |
VPS11 | 2 | Nov 17, 2020 |
VPS13B | 2 | Nov 21, 2018 |
VRK1 | 1 | Nov 21, 2018 |
WARS2 | 2 | Nov 17, 2020 |
WARS2-AS1 | 1 | Nov 17, 2020 |
WDR19 | 2 | Sep 29, 2021 |
WDR36 | 1 | Mar 10, 2020 |
WDR4 | 1 | May 29, 2020 |
WDR73 | 1 | Oct 3, 2019 |
WFS1 | 1 | Mar 10, 2020 |
WT1 | 1 | Jul 1, 2017 |
WWOX | 1 | Sep 26, 2018 |
XDH | 1 | Mar 10, 2020 |
YARS2 | 1 | Oct 3, 2019 |
ZBTB18 | 1 | Oct 3, 2019 |
ZC4H2 | 2 | Nov 17, 2020 |
ZDHHC24 | 5 | May 4, 2022 |
ZFYVE26 | 1 | May 29, 2020 |
ZNF462 | 1 | May 29, 2020 |
ZNF699 | 1 | Nov 17, 2020 |
ZNHIT3 | 1 | May 29, 2020 |