Center for Pediatric Genomic Medicine (Children's Mercy Hospital and Clinics)
General information
Center for Pediatric Genomic Medicine
Children's Mercy Hospital and Clinics
https://www.childrensmercy.org/Health_Care_Professionals/Research/Pediatric_Genomic_Medicine/
Organization ID: 505698
Children's Mercy Hospital and Clinics
https://www.childrensmercy.org/Health_Care_Professionals/Research/Pediatric_Genomic_Medicine/
Organization ID: 505698
Personnel
- Neil Miller
- Carol Saunders, Contact
Email: csaunders@cmh.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 3975
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| A2ML1 | 3 | Oct 5, 2017 |
| A2ML1-AS1 | 2 | Oct 5, 2017 |
| AARS1 | 4 | Oct 5, 2017 |
| AARS2 | 5 | Oct 19, 2021 |
| AASS | 2 | Oct 5, 2017 |
| ABAT | 3 | Oct 5, 2017 |
| ABCA12 | 5 | May 19, 2016 |
| ABCA3 | 2 | Oct 5, 2017 |
| ABCA4 | 1 | Oct 5, 2017 |
| ABCB11 | 3 | Feb 17, 2017 |
| ABCB4 | 2 | Feb 17, 2017 |
| ABCB6 | 2 | Oct 5, 2017 |
| ABCC8 | 2 | Oct 5, 2017 |
| ABCD1 | 1 | Feb 17, 2017 |
| ABCD4 | 2 | Feb 17, 2017 |
| ABHD14A-ACY1 | 2 | Oct 5, 2017 |
| ABHD5 | 1 | Oct 5, 2017 |
| ACAD9 | 1 | May 19, 2016 |
| ACADM | 7 | Oct 5, 2017 |
| ACADSB | 1 | Feb 17, 2017 |
| ACADVL | 10 | Oct 5, 2017 |
| ACAN | 3 | Oct 5, 2017 |
| ACAT1 | 2 | Feb 17, 2017 |
| ACE | 3 | Feb 17, 2017 |
| ACO2 | 1 | May 19, 2016 |
| ACOX1 | 3 | Oct 5, 2017 |
| ACP5 | 1 | Oct 5, 2017 |
| ACSF3 | 4 | Oct 5, 2017 |
| ACSL4 | 3 | Oct 5, 2017 |
| ACTB | 1 | Oct 5, 2017 |
| ACTG1 | 3 | Oct 5, 2017 |
| ACTN2 | 1 | May 19, 2016 |
| ACVRL1 | 1 | Oct 5, 2017 |
| ACY1 | 2 | Oct 5, 2017 |
| ACYP1 | 1 | May 19, 2016 |
| ADAMTS10 | 1 | May 19, 2016 |
| ADAMTS13 | 1 | Feb 17, 2017 |
| ADAMTS18 | 1 | Feb 17, 2017 |
| ADAMTS2 | 1 | Oct 5, 2017 |
| ADAMTSL2 | 1 | May 19, 2016 |
| ADAR | 3 | Oct 5, 2017 |
| ADAT3 | 2 | Oct 5, 2017 |
| ADD3 | 3 | Oct 5, 2017 |
| ADGRG6 | 1 | Feb 17, 2017 |
| ADGRV1 | 30 | Oct 5, 2017 |
| ADK | 1 | Oct 5, 2017 |
| ADNP-AS1 | 2 | Feb 17, 2017 |
| ADRA2B | 1 | Feb 17, 2017 |
| ADSL | 4 | Feb 17, 2017 |
| AFF2 | 3 | Oct 5, 2017 |
| AFG2A | 3 | Oct 5, 2017 |
| AGA | 1 | Feb 17, 2017 |
| AGL | 3 | Oct 5, 2017 |
| AGRN | 7 | Oct 5, 2017 |
| AGXT | 3 | Feb 17, 2017 |
| AHCY | 3 | Oct 5, 2017 |
| AHDC1 | 7 | Oct 5, 2017 |
| AHI1 | 9 | Oct 5, 2017 |
| AIFM1 | 2 | Oct 5, 2017 |
| AIMP1 | 2 | Oct 5, 2017 |
| AIPL1 | 2 | Feb 17, 2017 |
| AIRE | 2 | Oct 5, 2017 |
| AK1 | 1 | Feb 17, 2017 |
| AK2 | 1 | Feb 17, 2017 |
| AKAP9 | 1 | Feb 17, 2017 |
| ALDH18A1 | 1 | Feb 17, 2017 |
| ALDH1A3 | 1 | May 19, 2016 |
| ALDH3A2 | 2 | Oct 5, 2017 |
| ALDH5A1 | 8 | Oct 5, 2017 |
| ALDH6A1 | 1 | Oct 5, 2017 |
| ALDH7A1 | 4 | Oct 5, 2017 |
| ALDOB | 1 | Oct 5, 2017 |
| ALG1 | 5 | Oct 5, 2017 |
| ALG11 | 2 | May 19, 2016 |
| ALG12 | 4 | Oct 5, 2017 |
| ALG14 | 1 | Feb 17, 2017 |
| ALG2 | 2 | Oct 5, 2017 |
| ALG3 | 6 | Oct 5, 2017 |
| ALG6 | 2 | Feb 17, 2017 |
| ALG9 | 5 | Oct 5, 2017 |
| ALMS1 | 27 | Oct 5, 2017 |
| ALPL | 9 | Oct 5, 2017 |
| ALX4 | 1 | Oct 5, 2017 |
| AMACR | 5 | Feb 17, 2017 |
| AMER1 | 2 | Oct 5, 2017 |
| AMPD1 | 4 | Oct 5, 2017 |
| AMPD2 | 2 | Oct 5, 2017 |
| AMPD3 | 1 | Oct 5, 2017 |
| AMT | 2 | May 19, 2016 |
| ANGPT2 | 1 | Oct 5, 2017 |
| ANGPTL3 | 1 | Feb 17, 2017 |
| ANK1 | 1 | May 19, 2016 |
| ANK2 | 4 | Oct 5, 2017 |
| ANK3 | 8 | Oct 5, 2017 |
| ANKLE2 | 1 | May 19, 2016 |
| ANKRD11 | 16 | Oct 5, 2017 |
| ANO3 | 1 | May 19, 2016 |
| ANO5 | 2 | Feb 17, 2017 |
| ANTXR1 | 1 | Oct 5, 2017 |
| AOPEP | 5 | May 19, 2016 |
| AP1S2 | 1 | Oct 5, 2017 |
| AP3B1 | 1 | May 19, 2016 |
| AP4B1 | 2 | Oct 5, 2017 |
| AP4B1-AS1 | 1 | May 19, 2016 |
| AP4E1 | 3 | Oct 5, 2017 |
| AP4M1 | 1 | Feb 17, 2017 |
| AP4S1 | 1 | May 19, 2016 |
| AP5Z1 | 1 | Oct 5, 2017 |
| APC | 4 | Oct 5, 2017 |
| APC2 | 1 | Oct 5, 2017 |
| APOB | 6 | Oct 5, 2017 |
| APOL4 | 1 | Oct 5, 2017 |
| APTX | 4 | Oct 5, 2017 |
| AR | 4 | Oct 5, 2017 |
| ARFGEF1 | 1 | Feb 17, 2017 |
| ARFGEF1-DT | 1 | Oct 5, 2017 |
| ARFGEF2 | 3 | Oct 5, 2017 |
| ARHGAP31 | 6 | Oct 5, 2017 |
| ARHGEF10 | 1 | Feb 17, 2017 |
| ARHGEF6 | 3 | Oct 5, 2017 |
| ARHGEF9 | 1 | Feb 17, 2017 |
| ARID1A | 8 | Oct 5, 2017 |
| ARID1B | 22 | Oct 5, 2017 |
| ARL13B | 1 | Oct 5, 2017 |
| ARNT2 | 1 | Oct 5, 2017 |
| ARSA | 4 | Oct 5, 2017 |
| ARSB | 2 | Oct 5, 2017 |
| ARSL | 4 | May 19, 2016 |
| ARV1 | 1 | Oct 5, 2017 |
| ARVCF | 1 | Oct 5, 2017 |
| ARX | 2 | Feb 17, 2017 |
| ASAH1 | 1 | Feb 17, 2017 |
| ASIC4-AS1 | 1 | Oct 5, 2017 |
| ASL | 5 | Oct 5, 2017 |
| ASNS | 6 | Oct 5, 2017 |
| ASPA | 1 | May 19, 2016 |
| ASPM | 12 | Oct 5, 2017 |
| ASS1 | 3 | Oct 5, 2017 |
| ASXL1 | 6 | Oct 5, 2017 |
| ASXL2 | 2 | Oct 5, 2017 |
| ASXL3 | 4 | Oct 5, 2017 |
| ATG5 | 1 | Jun 22, 2018 |
| ATIC | 3 | Oct 5, 2017 |
| ATM | 12 | Oct 5, 2017 |
| ATP1A2 | 2 | Oct 5, 2017 |
| ATP1A3 | 2 | Oct 5, 2017 |
| ATP2C1 | 1 | Feb 17, 2017 |
| ATP5F1A | 2 | Oct 5, 2017 |
| ATP6V0A2 | 4 | Oct 5, 2017 |
| ATP7A | 2 | Feb 17, 2017 |
| ATP7B | 6 | Oct 5, 2017 |
| ATP8A2 | 5 | Oct 5, 2017 |
| ATP8B1 | 1 | Feb 17, 2017 |
| ATPAF2 | 2 | Feb 17, 2017 |
| ATR | 6 | Oct 5, 2017 |
| ATRIP | 2 | Feb 17, 2017 |
| ATRIP-TREX1 | 2 | Feb 17, 2017 |
| ATRX | 5 | Oct 5, 2017 |
| ATXN10 | 1 | Feb 17, 2017 |
| AUH | 2 | Feb 17, 2017 |
| AUTS2 | 6 | Oct 5, 2017 |
| AVEN | 1 | Jun 22, 2018 |
| AVPR2 | 2 | Oct 5, 2017 |
| AXIN1 | 1 | Oct 5, 2017 |
| B3GLCT | 2 | Oct 5, 2017 |
| B4GALNT1 | 2 | Feb 17, 2017 |
| B4GALT1 | 1 | May 19, 2016 |
| B4GAT1 | 1 | May 19, 2016 |
| B9D1 | 1 | Feb 17, 2017 |
| BAG3 | 2 | Oct 5, 2017 |
| BBOF1 | 1 | Oct 5, 2017 |
| BBS1 | 4 | Oct 5, 2017 |
| BBS10 | 3 | Feb 17, 2017 |
| BBS12 | 4 | Oct 5, 2017 |
| BBS2 | 3 | Feb 17, 2017 |
| BBS4 | 3 | Oct 5, 2017 |
| BBS5 | 1 | Oct 5, 2017 |
| BBS7 | 1 | Feb 17, 2017 |
| BBS9 | 7 | Oct 5, 2017 |
| BCAP31 | 1 | May 19, 2016 |
| BCHE | 1 | Feb 17, 2017 |
| BCKDHA | 4 | Oct 5, 2017 |
| BCO1 | 1 | Feb 17, 2017 |
| BCOR | 1 | Feb 17, 2017 |
| BCS1L | 1 | Feb 17, 2017 |
| BICD2 | 1 | May 19, 2016 |
| BIN1 | 1 | Oct 5, 2017 |
| BIRC6 | 1 | Oct 5, 2017 |
| BIVM-ERCC5 | 1 | Oct 5, 2017 |
| BLM | 3 | Feb 17, 2017 |
| BLNK | 1 | Oct 5, 2017 |
| BLOC1S3 | 1 | Feb 17, 2017 |
| BLTP2 | 1 | Jun 22, 2018 |
| BMP1 | 2 | Oct 5, 2017 |
| BMP4 | 1 | Oct 5, 2017 |
| BMPER | 1 | Oct 5, 2017 |
| BMPR2 | 1 | Oct 5, 2017 |
| BPTF | 1 | Jun 22, 2018 |
| BRAF | 1 | May 19, 2016 |
| BRAT1 | 8 | Oct 5, 2017 |
| BRCA1 | 2 | May 19, 2016 |
| BRCA2 | 17 | Oct 5, 2017 |
| BRIP1 | 2 | Oct 5, 2017 |
| BRPF1 | 1 | Oct 5, 2017 |
| BRWD3 | 2 | Oct 5, 2017 |
| BSCL2 | 1 | Oct 5, 2017 |
| BTD | 6 | Oct 5, 2017 |
| BTK | 2 | Oct 5, 2017 |
| C11orf65 | 3 | Feb 17, 2017 |
| C12orf60 | 3 | Oct 5, 2017 |
| C14orf39 | 1 | Oct 5, 2017 |
| C1QTNF3-AMACR | 5 | Feb 17, 2017 |
| C2 | 1 | Feb 17, 2017 |
| C2CD3 | 1 | May 19, 2016 |
| C6 | 1 | Feb 17, 2017 |
| C9 | 1 | Oct 5, 2017 |
| CA4 | 1 | Oct 5, 2017 |
| CACNA1A | 11 | Oct 5, 2017 |
| CACNA1B | 1 | Feb 17, 2017 |
| CACNA1C | 1 | Feb 17, 2017 |
| CACNA1C-AS1 | 1 | Feb 17, 2017 |
| CACNA1D | 1 | Feb 17, 2017 |
| CACNA1F | 1 | Oct 5, 2017 |
| CACNA1H | 11 | Oct 5, 2017 |
| CACNA1S | 3 | Oct 5, 2017 |
| CACNG2 | 1 | Feb 17, 2017 |
| CACNG2-DT | 1 | Feb 17, 2017 |
| CAD | 1 | Feb 17, 2017 |
| CALR3 | 1 | Feb 17, 2017 |
| CAMTA1 | 3 | Oct 5, 2017 |
| CANT1 | 1 | Oct 5, 2017 |
| CAPN3 | 1 | Oct 5, 2017 |
| CARD14 | 1 | Oct 5, 2017 |
| CARS2 | 1 | Oct 5, 2017 |
| CASD1 | 1 | May 19, 2016 |
| CASK | 6 | Oct 5, 2017 |
| CASP10 | 1 | Feb 17, 2017 |
| CASQ2 | 1 | Feb 17, 2017 |
| CASR | 1 | Oct 5, 2017 |
| CATIP-AS2 | 1 | Feb 17, 2017 |
| CAV3 | 1 | Feb 17, 2017 |
| CBL | 7 | Oct 5, 2017 |
| CBS | 4 | Oct 5, 2017 |
| CC2D1A | 9 | Oct 5, 2017 |
| CC2D2A | 6 | Oct 5, 2017 |
| CCBE1 | 2 | Feb 17, 2017 |
| CCDC174 | 1 | Oct 5, 2017 |
| CCDC22 | 2 | Oct 5, 2017 |
| CCDC39 | 1 | Oct 5, 2017 |
| CCDC40 | 1 | Oct 5, 2017 |
| CCDC78 | 1 | Oct 5, 2017 |
| CCDC8 | 1 | Feb 17, 2017 |
| CCDC88C | 4 | Feb 17, 2017 |
| CCDST | 1 | Oct 5, 2017 |
| CCM2 | 2 | Oct 5, 2017 |
| CCND2 | 1 | Feb 17, 2017 |
| CCNO | 1 | Feb 17, 2017 |
| CCNQ | 1 | Oct 5, 2017 |
| CD19 | 1 | May 19, 2016 |
| CD320 | 2 | Oct 5, 2017 |
| CD3G | 1 | Oct 5, 2017 |
| CDAN1 | 1 | May 19, 2016 |
| CDC73 | 1 | Oct 5, 2017 |
| CDH1 | 1 | Oct 5, 2017 |
| CDH15 | 2 | Oct 5, 2017 |
| CDH23 | 2 | Oct 5, 2017 |
| CDK13 | 1 | Oct 5, 2017 |
| CDK5RAP2 | 1 | May 19, 2016 |
| CDKL5 | 3 | Feb 17, 2017 |
| CDKN1B | 1 | Oct 5, 2017 |
| CDKN1C | 1 | Oct 5, 2017 |
| CDON | 1 | Oct 5, 2017 |
| CDT1 | 2 | Feb 17, 2017 |
| CENPE | 2 | Oct 5, 2017 |
| CENPF | 3 | Oct 5, 2017 |
| CEP152 | 4 | Oct 5, 2017 |
| CEP164 | 2 | May 19, 2016 |
| CEP290 | 15 | Oct 5, 2017 |
| CEP41 | 4 | Oct 5, 2017 |
| CEP63 | 1 | Feb 17, 2017 |
| CEP85L | 1 | Oct 19, 2021 |
| CERT1 | 3 | Oct 5, 2017 |
| CFB | 1 | Feb 17, 2017 |
| CFC1 | 1 | Feb 17, 2017 |
| CFHR5 | 1 | Feb 17, 2017 |
| CFP | 1 | May 19, 2016 |
| CFTR | 30 | Oct 5, 2017 |
| CFTR-AS1 | 8 | Oct 5, 2017 |
| CFTR-AS2 | 3 | Feb 17, 2017 |
| CHAMP1 | 1 | Oct 5, 2017 |
| CHAT | 2 | Oct 5, 2017 |
| CHD2 | 5 | Oct 5, 2017 |
| CHD7 | 9 | Oct 5, 2017 |
| CHKB | 1 | May 19, 2016 |
| CHKB-CPT1B | 1 | May 19, 2016 |
| CHMP2B | 1 | Oct 5, 2017 |
| CHRNA2 | 1 | Feb 17, 2017 |
| CHRNA4 | 3 | Feb 17, 2017 |
| CHRNB1 | 1 | Oct 5, 2017 |
| CHRNB2 | 2 | Oct 5, 2017 |
| CHRND | 3 | Oct 5, 2017 |
| CHRNE | 1 | Oct 5, 2017 |
| CHRNG | 3 | Feb 17, 2017 |
| CHST3 | 2 | Oct 5, 2017 |
| CILK1 | 1 | Oct 5, 2017 |
| CISD2 | 1 | Feb 17, 2017 |
| CIT | 1 | Feb 17, 2017 |
| CLASP1 | 2 | Oct 19, 2021 |
| CLASP1-AS1 | 2 | Oct 19, 2021 |
| CLCC1 | 1 | Oct 5, 2017 |
| CLCN1 | 2 | Oct 5, 2017 |
| CLCN2 | 7 | Oct 5, 2017 |
| CLCN4 | 2 | Oct 5, 2017 |
| CLCN7 | 1 | May 19, 2016 |
| CLCNKB | 1 | May 19, 2016 |
| CLEC7A | 1 | Feb 17, 2017 |
| CLIC2 | 2 | Oct 5, 2017 |
| CLN3 | 4 | Feb 17, 2017 |
| CLN5 | 2 | Oct 5, 2017 |
| CLN6 | 1 | Feb 17, 2017 |
| CLN8 | 2 | May 19, 2016 |
| CLPB | 1 | May 19, 2016 |
| CLTCL1 | 2 | Oct 5, 2017 |
| CNGA3 | 1 | Feb 17, 2017 |
| CNGB1 | 1 | May 19, 2016 |
| CNTN2 | 1 | Oct 5, 2017 |
| CNTN5 | 1 | Oct 5, 2017 |
| CNTNAP2 | 4 | Oct 5, 2017 |
| COA8 | 2 | Feb 17, 2017 |
| COG1 | 10 | Oct 5, 2017 |
| COG4 | 1 | Feb 17, 2017 |
| COG5 | 2 | Oct 5, 2017 |
| COG6 | 3 | Oct 5, 2017 |
| COG7 | 4 | Oct 5, 2017 |
| COG8 | 3 | Feb 17, 2017 |
| COL10A1 | 1 | Feb 17, 2017 |
| COL11A1 | 4 | Oct 5, 2017 |
| COL11A2 | 5 | Oct 5, 2017 |
| COL12A1 | 1 | Feb 17, 2017 |
| COL18A1 | 11 | Oct 5, 2017 |
| COL1A1 | 7 | Oct 5, 2017 |
| COL1A2 | 1 | Oct 5, 2017 |
| COL2A1 | 3 | Oct 5, 2017 |
| COL3A1 | 5 | Oct 5, 2017 |
| COL4A1 | 6 | Oct 5, 2017 |
| COL4A2 | 3 | Oct 5, 2017 |
| COL4A3 | 1 | Oct 5, 2017 |
| COL4A5 | 7 | Oct 5, 2017 |
| COL4A6 | 1 | Oct 5, 2017 |
| COL5A2 | 2 | Oct 5, 2017 |
| COL6A1 | 5 | Oct 5, 2017 |
| COL6A2 | 7 | Oct 5, 2017 |
| COL6A3 | 13 | Oct 5, 2017 |
| COL7A1 | 1 | May 19, 2016 |
| COL9A1 | 1 | Feb 17, 2017 |
| COL9A2 | 3 | Oct 5, 2017 |
| COL9A3 | 1 | Feb 17, 2017 |
| COLEC11 | 1 | Oct 5, 2017 |
| COMP | 2 | Oct 5, 2017 |
| COQ2 | 4 | Oct 5, 2017 |
| COQ6 | 2 | Feb 17, 2017 |
| COQ7 | 2 | Oct 5, 2017 |
| COQ8A | 2 | Oct 5, 2017 |
| COQ9 | 4 | Oct 5, 2017 |
| COX10 | 4 | Oct 5, 2017 |
| COX15 | 1 | Feb 17, 2017 |
| COX20 | 1 | Feb 17, 2017 |
| CP | 3 | Oct 5, 2017 |
| CPA6 | 1 | Oct 5, 2017 |
| CPAP | 2 | Oct 5, 2017 |
| CPLANE1 | 8 | Oct 5, 2017 |
| CPS1 | 5 | Oct 5, 2017 |
| CPT1A | 2 | May 19, 2016 |
| CPT2 | 5 | Oct 5, 2017 |
| CR1 | 1 | Oct 5, 2017 |
| CRB1 | 1 | Feb 17, 2017 |
| CRBN | 1 | May 19, 2016 |
| CREBBP | 9 | Oct 5, 2017 |
| CRTAP | 1 | Oct 5, 2017 |
| CRX | 1 | May 19, 2016 |
| CRYM | 1 | Feb 17, 2017 |
| CSPP1 | 4 | Oct 5, 2017 |
| CSRP3 | 1 | Oct 5, 2017 |
| CSTB | 1 | May 19, 2016 |
| CTC1 | 2 | Oct 5, 2017 |
| CTCF | 1 | Feb 17, 2017 |
| CTDP1 | 1 | Feb 17, 2017 |
| CTNNA3 | 1 | Oct 5, 2017 |
| CTNNA3-AS1 | 1 | Oct 5, 2017 |
| CTNS | 2 | Oct 5, 2017 |
| CTNS-AS1 | 1 | Oct 5, 2017 |
| CTSD | 2 | Feb 17, 2017 |
| CTSF | 1 | Feb 17, 2017 |
| CTXN2-AS1 | 1 | Oct 5, 2017 |
| CUL3 | 1 | Jun 22, 2018 |
| CUL7 | 6 | Oct 5, 2017 |
| CYBB | 1 | Feb 17, 2017 |
| CYC1 | 2 | May 19, 2016 |
| CYP11A1 | 1 | Oct 5, 2017 |
| CYP11B1 | 1 | May 19, 2016 |
| CYP11B2 | 1 | Oct 5, 2017 |
| CYP21A2 | 1 | Oct 5, 2017 |
| CYP26B1 | 1 | Oct 5, 2017 |
| CYP2D6 | 5 | Mar 6, 2015 |
| CYP2U1 | 2 | Oct 5, 2017 |
| CYP2U1-AS1 | 1 | Oct 5, 2017 |
| CZ1P-ASNS | 6 | Oct 5, 2017 |
| D2HGDH | 4 | Oct 5, 2017 |
| DAG1 | 1 | Oct 5, 2017 |
| DARS1 | 2 | Oct 5, 2017 |
| DARS2 | 1 | May 19, 2016 |
| DBH | 2 | Oct 5, 2017 |
| DBT | 2 | May 19, 2016 |
| DCAF17 | 1 | Oct 5, 2017 |
| DCHS1 | 9 | Oct 5, 2017 |
| DCLRE1C | 3 | Oct 5, 2017 |
| DCPS | 2 | Feb 17, 2017 |
| DCTN1 | 1 | Oct 5, 2017 |
| DDC | 3 | May 19, 2016 |
| DDOST | 1 | Oct 5, 2017 |
| DDR2 | 2 | Oct 5, 2017 |
| DDX11 | 3 | Feb 17, 2017 |
| DDX23 | 1 | Nov 9, 2020 |
| DDX3X | 1 | Oct 5, 2017 |
| DEAF1 | 1 | Feb 17, 2017 |
| DEPDC5 | 2 | Oct 5, 2017 |
| DGUOK | 1 | May 19, 2016 |
| DHCR7 | 6 | Oct 5, 2017 |
| DHTKD1 | 1 | Oct 5, 2017 |
| DIAPH1 | 3 | Oct 5, 2017 |
| DICER1 | 1 | Feb 17, 2017 |
| DIP2B | 3 | Oct 5, 2017 |
| DIPK1A | 1 | Oct 5, 2017 |
| DIS3L2 | 1 | Oct 5, 2017 |
| DKC1 | 3 | Feb 17, 2017 |
| DLD | 1 | Feb 17, 2017 |
| DLG3 | 2 | Oct 5, 2017 |
| DLG3-AS1 | 1 | Oct 5, 2017 |
| DLG4 | 1 | May 19, 2016 |
| DMD | 9 | Oct 5, 2017 |
| DMP1-AS1 | 1 | Oct 5, 2017 |
| DMPK | 1 | Oct 5, 2017 |
| DMXL2 | 1 | Feb 17, 2017 |
| DNA2 | 2 | Oct 5, 2017 |
| DNAAF1 | 1 | Oct 5, 2017 |
| DNAAF11 | 1 | Oct 5, 2017 |
| DNAAF2 | 1 | Oct 5, 2017 |
| DNAAF5 | 1 | Oct 5, 2017 |
| DNAH11 | 10 | Oct 5, 2017 |
| DNAH5 | 7 | Oct 5, 2017 |
| DNAI2 | 1 | Oct 5, 2017 |
| DNAJC19 | 1 | May 19, 2016 |
| DNAJC6 | 1 | Oct 5, 2017 |
| DNASE1L3 | 1 | Feb 17, 2017 |
| DNM1 | 4 | Oct 5, 2017 |
| DNM2 | 3 | Feb 17, 2017 |
| DNMT1 | 1 | Feb 17, 2017 |
| DNMT3A | 1 | Oct 5, 2017 |
| DOCK6 | 6 | Oct 5, 2017 |
| DOCK6-AS1 | 3 | Oct 5, 2017 |
| DOCK7 | 9 | Oct 5, 2017 |
| DOCK8 | 8 | Oct 5, 2017 |
| DOCK8-AS1 | 1 | May 19, 2016 |
| DOK7 | 1 | May 19, 2016 |
| DOLK | 2 | Feb 17, 2017 |
| DPAGT1 | 1 | Feb 17, 2017 |
| DPH1 | 1 | Oct 5, 2017 |
| DPM1 | 2 | Feb 17, 2017 |
| DPP6 | 3 | Oct 5, 2017 |
| DPYD | 2 | Oct 5, 2017 |
| DPYS | 1 | Oct 5, 2017 |
| DRD4 | 1 | Oct 5, 2017 |
| DSC2 | 1 | Oct 5, 2017 |
| DSG1-AS1 | 1 | May 19, 2016 |
| DSG2 | 1 | Oct 5, 2017 |
| DSG2-AS1 | 1 | Oct 5, 2017 |
| DSG4 | 1 | May 19, 2016 |
| DSP | 7 | Feb 17, 2017 |
| DSPP | 1 | Oct 5, 2017 |
| DST | 2 | Oct 5, 2017 |
| DTNA | 1 | Oct 5, 2017 |
| DUOX2 | 3 | Feb 17, 2017 |
| DUOXA2 | 1 | Feb 17, 2017 |
| DUSP29 | 4 | Oct 5, 2017 |
| DVL1 | 3 | Oct 5, 2017 |
| DYM | 1 | Oct 5, 2017 |
| DYNC1H1 | 1 | Oct 5, 2017 |
| DYNC2H1 | 4 | Oct 5, 2017 |
| DYRK1A | 2 | Feb 17, 2017 |
| DYSF | 3 | Oct 5, 2017 |
| EARS2 | 4 | Oct 5, 2017 |
| EBF3 | 1 | Oct 5, 2017 |
| EBF3-AS1 | 1 | Oct 5, 2017 |
| ECE1 | 1 | Oct 5, 2017 |
| ECEL1 | 1 | Feb 17, 2017 |
| ECHS1 | 2 | Feb 17, 2017 |
| ECM1 | 2 | Oct 5, 2017 |
| EDA | 2 | Feb 17, 2017 |
| EDN1 | 1 | Oct 5, 2017 |
| EDNRB | 1 | May 19, 2016 |
| EEF2 | 1 | Jun 22, 2018 |
| EFHC1 | 6 | Oct 5, 2017 |
| EFNB1 | 3 | Feb 17, 2017 |
| EFTUD2 | 1 | Feb 17, 2017 |
| EGF | 1 | Oct 5, 2017 |
| EHMT1 | 5 | Oct 5, 2017 |
| EIF2AK2 | 1 | Feb 26, 2020 |
| EIF2AK3 | 4 | Oct 5, 2017 |
| EIF2B2 | 1 | Oct 5, 2017 |
| EIF2B3 | 1 | Oct 5, 2017 |
| EIF2B4 | 1 | May 19, 2016 |
| EIF2B5 | 2 | Feb 17, 2017 |
| ELAC2 | 1 | May 19, 2016 |
| ELANE | 2 | Feb 17, 2017 |
| ELN | 2 | Feb 17, 2017 |
| ELOVL4 | 1 | Oct 5, 2017 |
| ELP1 | 1 | Oct 5, 2017 |
| EMC1 | 2 | Oct 5, 2017 |
| EMC1-AS1 | 1 | Oct 5, 2017 |
| EMG1 | 1 | Oct 5, 2017 |
| ENPP1 | 1 | Oct 5, 2017 |
| ENTPD5 | 1 | Feb 17, 2017 |
| EOGT | 4 | Oct 5, 2017 |
| EP300 | 3 | Oct 5, 2017 |
| EPB41L1 | 1 | Oct 5, 2017 |
| EPG5 | 6 | Oct 5, 2017 |
| EPM2A | 3 | Feb 17, 2017 |
| EPM2A-DT | 1 | Feb 17, 2017 |
| ERCC1 | 2 | Feb 17, 2017 |
| ERCC2 | 2 | Oct 5, 2017 |
| ERCC4 | 5 | Oct 5, 2017 |
| ERCC5 | 1 | Oct 5, 2017 |
| ERCC6 | 9 | Oct 5, 2017 |
| ERCC6L2 | 1 | May 19, 2016 |
| ERF | 1 | Oct 5, 2017 |
| ERMARD | 2 | Oct 5, 2017 |
| ESCO2 | 1 | May 19, 2016 |
| ESPN | 2 | Oct 5, 2017 |
| ESR2 | 1 | Feb 17, 2017 |
| ETFA | 1 | May 19, 2016 |
| ETFB | 2 | May 19, 2016 |
| ETFDH | 5 | Oct 5, 2017 |
| ETHE1 | 1 | May 19, 2016 |
| EVC | 2 | Oct 5, 2017 |
| EVC2 | 5 | Oct 5, 2017 |
| EVI2A | 2 | Oct 5, 2017 |
| EVI2B | 3 | Oct 5, 2017 |
| EXOSC3 | 1 | Oct 5, 2017 |
| EXOSC8 | 2 | Feb 17, 2017 |
| EXT2 | 3 | Oct 5, 2017 |
| EXTL3 | 1 | Oct 5, 2017 |
| EYA1 | 1 | Oct 5, 2017 |
| EZH2 | 2 | Oct 5, 2017 |
| FA2H | 1 | Oct 5, 2017 |
| FAM111A | 1 | Feb 17, 2017 |
| FAM20C | 3 | May 19, 2016 |
| FANCA | 6 | Oct 5, 2017 |
| FANCB | 2 | Oct 5, 2017 |
| FANCC | 10 | Oct 5, 2017 |
| FANCD2 | 7 | Oct 5, 2017 |
| FANCD2OS | 1 | Oct 5, 2017 |
| FANCF | 1 | Feb 17, 2017 |
| FANCG | 2 | Oct 5, 2017 |
| FANCI | 7 | Oct 5, 2017 |
| FANCL | 2 | Oct 5, 2017 |
| FARS2 | 1 | Feb 17, 2017 |
| FASN | 2 | Oct 5, 2017 |
| FASTKD2 | 9 | Oct 5, 2017 |
| FAT4 | 5 | Oct 5, 2017 |
| FBN1 | 9 | Oct 5, 2017 |
| FBN2 | 5 | Oct 5, 2017 |
| FBP1 | 1 | Oct 5, 2017 |
| FBXL4 | 3 | Oct 5, 2017 |
| FBXL5 | 3 | Oct 5, 2017 |
| FBXO31 | 1 | Feb 17, 2017 |
| FGA | 1 | May 19, 2016 |
| FGD1 | 5 | Oct 5, 2017 |
| FGD4 | 1 | May 19, 2016 |
| FGFR1 | 4 | Oct 5, 2017 |
| FGFR2 | 4 | Feb 17, 2017 |
| FGFR3 | 3 | Feb 17, 2017 |
| FKBP10 | 2 | Oct 5, 2017 |
| FKRP | 2 | Oct 5, 2017 |
| FKTN | 2 | Oct 5, 2017 |
| FLG | 1 | Oct 5, 2017 |
| FLNA | 12 | Oct 5, 2017 |
| FLNB | 3 | Oct 5, 2017 |
| FLNC | 2 | Oct 5, 2017 |
| FLNC-AS1 | 1 | Oct 5, 2017 |
| FLRT3 | 1 | May 19, 2016 |
| FLT4 | 1 | Feb 17, 2017 |
| FMN2 | 7 | Oct 5, 2017 |
| FOLR1 | 1 | Oct 5, 2017 |
| FOLR1-AS1 | 1 | Oct 5, 2017 |
| FOXG1 | 3 | Feb 17, 2017 |
| FOXI1 | 1 | Feb 17, 2017 |
| FOXP1 | 4 | Oct 5, 2017 |
| FOXP2 | 2 | Oct 5, 2017 |
| FOXP3 | 1 | Oct 5, 2017 |
| FOXRED1 | 1 | Oct 5, 2017 |
| FRAS1 | 9 | Oct 5, 2017 |
| FREM1 | 1 | Oct 5, 2017 |
| FREM2 | 5 | Feb 17, 2017 |
| FRMPD4 | 1 | Oct 5, 2017 |
| FSCN2 | 2 | Feb 17, 2017 |
| FTCD | 2 | Oct 5, 2017 |
| FTO | 2 | Oct 5, 2017 |
| FTSJ1 | 2 | Oct 5, 2017 |
| FUCA1 | 2 | Feb 17, 2017 |
| FUT6 | 1 | Feb 17, 2017 |
| FUZ | 1 | Oct 5, 2017 |
| G6PC1 | 1 | Feb 17, 2017 |
| G6PD | 5 | Oct 5, 2017 |
| GAA | 2 | Oct 5, 2017 |
| GABRA1 | 2 | Oct 5, 2017 |
| GABRB1 | 1 | Oct 5, 2017 |
| GABRB3 | 3 | Oct 5, 2017 |
| GABRD | 1 | May 19, 2016 |
| GAD1 | 1 | Feb 17, 2017 |
| GALC | 6 | Oct 5, 2017 |
| GALT | 9 | Oct 5, 2017 |
| GAMT | 4 | Oct 5, 2017 |
| GAN | 1 | Oct 5, 2017 |
| GARS1 | 1 | Oct 5, 2017 |
| GATA4 | 3 | Oct 19, 2021 |
| GATA6 | 2 | Oct 5, 2017 |
| GATAD2B | 3 | Oct 5, 2017 |
| GATM | 1 | Feb 17, 2017 |
| GBA1 | 2 | Feb 17, 2017 |
| GBA2 | 1 | Oct 5, 2017 |
| GBE1 | 5 | Feb 17, 2017 |
| GCC2 | 1 | Jun 22, 2018 |
| GCDH | 6 | Oct 5, 2017 |
| GCH1 | 1 | Feb 17, 2017 |
| GCK | 3 | Feb 17, 2017 |
| GCSH | 1 | May 19, 2016 |
| GDF6 | 1 | May 19, 2016 |
| GDI1 | 2 | Oct 5, 2017 |
| GFAP | 3 | Oct 5, 2017 |
| GFM1 | 2 | May 19, 2016 |
| GFPT1 | 1 | Oct 5, 2017 |
| GH-LCR | 6 | Oct 19, 2021 |
| GH1 | 1 | Feb 17, 2017 |
| GIGYF1 | 1 | Oct 5, 2017 |
| GJA1 | 2 | Oct 5, 2017 |
| GJB2 | 4 | Oct 5, 2017 |
| GJB6 | 1 | Feb 17, 2017 |
| GJC2 | 6 | Oct 5, 2017 |
| GLA | 5 | Oct 5, 2017 |
| GLB1 | 1 | May 19, 2016 |
| GLDC | 8 | Oct 5, 2017 |
| GLI2 | 6 | Oct 5, 2017 |
| GLI3 | 10 | Oct 5, 2017 |
| GLMN | 1 | Oct 5, 2017 |
| GLRA1 | 2 | Oct 5, 2017 |
| GLUD1 | 1 | Oct 5, 2017 |
| GLUL | 1 | Feb 17, 2017 |
| GLYCTK | 2 | Oct 5, 2017 |
| GMPPA | 1 | Oct 5, 2017 |
| GNAO1 | 1 | May 19, 2016 |
| GNAS | 4 | Oct 5, 2017 |
| GNAS-AS1 | 1 | Oct 5, 2017 |
| GNB2 | 1 | Mar 11, 2021 |
| GNE | 2 | Feb 17, 2017 |
| GNPTAB | 4 | Feb 17, 2017 |
| GOSR2 | 1 | Feb 17, 2017 |
| GPC3 | 2 | Oct 5, 2017 |
| GPHN | 1 | Feb 17, 2017 |
| GPLD1 | 1 | Oct 5, 2017 |
| GPR101 | 2 | Oct 5, 2017 |
| GPR143 | 1 | Feb 17, 2017 |
| GPR34 | 1 | May 19, 2016 |
| GPR82 | 2 | Oct 5, 2017 |
| GPSM2 | 4 | Oct 5, 2017 |
| GRIA3 | 2 | Oct 5, 2017 |
| GRIK2 | 1 | Oct 5, 2017 |
| GRIN1 | 2 | Oct 5, 2017 |
| GRIN2A | 8 | Oct 5, 2017 |
| GRIN2B | 1 | Feb 17, 2017 |
| GRIN2D | 2 | Oct 5, 2017 |
| GRIP1 | 1 | Oct 5, 2017 |
| GRM1 | 3 | Oct 5, 2017 |
| GRN | 2 | Oct 5, 2017 |
| GRXCR1 | 1 | Feb 17, 2017 |
| GRXCR2 | 1 | Feb 17, 2017 |
| GSEC | 2 | Feb 17, 2017 |
| GSR | 1 | Feb 17, 2017 |
| GSS | 1 | May 19, 2016 |
| GTF2H5 | 1 | May 19, 2016 |
| GUCY2C | 3 | Oct 5, 2017 |
| GUCY2C-AS1 | 1 | Feb 17, 2017 |
| GUCY2D | 1 | Oct 5, 2017 |
| GUF1 | 1 | Oct 5, 2017 |
| GYS2 | 1 | Feb 17, 2017 |
| HADH | 1 | May 19, 2016 |
| HADHA | 1 | May 19, 2016 |
| HADHB | 1 | May 19, 2016 |
| HARS1 | 1 | Oct 5, 2017 |
| HBA-LCR | 3 | Oct 5, 2017 |
| HBB | 4 | Oct 5, 2017 |
| HCFC1 | 7 | Oct 5, 2017 |
| HCN1 | 2 | Oct 5, 2017 |
| HDAC4 | 3 | Oct 5, 2017 |
| HDAC6 | 3 | Oct 5, 2017 |
| HDAC8 | 1 | May 19, 2016 |
| HECW2 | 2 | Feb 17, 2017 |
| HERC1 | 5 | Oct 5, 2017 |
| HERC2 | 11 | Oct 5, 2017 |
| HEXA | 3 | Oct 5, 2017 |
| HEXB | 3 | Oct 5, 2017 |
| HGSNAT | 2 | Oct 5, 2017 |
| HIBCH | 2 | Oct 5, 2017 |
| HIKESHI | 1 | Feb 17, 2017 |
| HIVEP2 | 2 | Oct 5, 2017 |
| HLCS | 3 | Feb 17, 2017 |
| HMBS | 1 | Oct 5, 2017 |
| HMGCS2 | 1 | Feb 17, 2017 |
| HNF1B | 1 | Feb 17, 2017 |
| HNMT | 1 | Oct 5, 2017 |
| HNRNPU | 1 | Feb 17, 2017 |
| HNRNPUL2-BSCL2 | 1 | Oct 5, 2017 |
| HOXA13 | 1 | Feb 17, 2017 |
| HPD | 1 | May 19, 2016 |
| HPS1 | 3 | Jun 3, 2021 |
| HPS4 | 1 | Oct 5, 2017 |
| HPS5 | 1 | Oct 5, 2017 |
| HPS6 | 1 | Feb 17, 2017 |
| HPSE2 | 1 | Oct 5, 2017 |
| HSD17B3 | 2 | Oct 5, 2017 |
| HSD17B3-AS1 | 2 | Oct 5, 2017 |
| HSD17B4 | 2 | May 19, 2016 |
| HSPD1 | 1 | Oct 5, 2017 |
| HSPG2 | 5 | Oct 5, 2017 |
| HTT | 1 | Oct 5, 2017 |
| HUWE1 | 5 | Oct 19, 2021 |
| HYCC1 | 1 | Feb 17, 2017 |
| HYDIN | 1 | Oct 5, 2017 |
| HYI | 3 | Oct 5, 2017 |
| IARS1 | 2 | Oct 5, 2017 |
| IARS2 | 1 | May 19, 2016 |
| IDH2 | 1 | Feb 17, 2017 |
| IDUA | 5 | Oct 5, 2017 |
| IER3IP1 | 1 | May 19, 2016 |
| IFIH1 | 6 | Oct 5, 2017 |
| IFNGR2 | 1 | Oct 5, 2017 |
| IFT122 | 1 | Oct 5, 2017 |
| IFT140 | 1 | Oct 5, 2017 |
| IFT27 | 1 | Feb 17, 2017 |
| IFT80 | 1 | May 19, 2016 |
| IGF1 | 1 | Feb 17, 2017 |
| IGF1R | 2 | Oct 5, 2017 |
| IGHMBP2 | 5 | Oct 5, 2017 |
| IGSF1 | 1 | Feb 17, 2017 |
| IKBKG | 1 | May 19, 2016 |
| IL12RB1 | 1 | May 19, 2016 |
| IL1RAPL1 | 1 | Feb 17, 2017 |
| IL2RG | 1 | Oct 5, 2017 |
| IL4I1 | 1 | Feb 17, 2017 |
| INCA1 | 1 | Oct 5, 2017 |
| INPP5E | 2 | Oct 5, 2017 |
| INS | 1 | Feb 17, 2017 |
| INS-IGF2 | 1 | Feb 17, 2017 |
| INSR | 1 | Oct 5, 2017 |
| IQSEC2 | 1 | Feb 17, 2017 |
| IRF6 | 1 | Feb 17, 2017 |
| ITCH | 1 | Feb 17, 2017 |
| ITGA2B | 1 | May 19, 2016 |
| ITGA7 | 5 | Oct 5, 2017 |
| ITGB2 | 1 | Oct 5, 2017 |
| ITGB3 | 1 | May 19, 2016 |
| ITPA | 1 | Oct 5, 2017 |
| ITPR1 | 3 | Oct 5, 2017 |
| IVD | 1 | Feb 17, 2017 |
| JAG1 | 2 | Oct 5, 2017 |
| JAK3 | 1 | May 19, 2016 |
| JUP | 1 | Oct 5, 2017 |
| KANK1 | 7 | Oct 5, 2017 |
| KANSL1 | 6 | Oct 5, 2017 |
| KAT6A | 7 | Oct 5, 2017 |
| KAT6B | 7 | Oct 5, 2017 |
| KCNA1 | 1 | Feb 17, 2017 |
| KCNA5 | 1 | Feb 17, 2017 |
| KCNC1 | 1 | Oct 5, 2017 |
| KCNH1 | 1 | May 19, 2016 |
| KCNJ1 | 4 | Feb 17, 2017 |
| KCNMA1 | 4 | Oct 5, 2017 |
| KCNMA1-AS1 | 1 | Oct 5, 2017 |
| KCNQ1 | 4 | Oct 5, 2017 |
| KCNQ2 | 6 | Oct 5, 2017 |
| KCNQ3 | 2 | Oct 5, 2017 |
| KCNT1 | 15 | Oct 5, 2017 |
| KDM1A | 1 | Jun 22, 2018 |
| KDM3B | 1 | Jun 22, 2018 |
| KDM5B | 1 | Jun 22, 2018 |
| KDM5C | 2 | Oct 5, 2017 |
| KDM6A | 3 | Oct 5, 2017 |
| KEL | 1 | Oct 5, 2017 |
| KIAA0586 | 4 | Oct 5, 2017 |
| KIAA0753 | 4 | Oct 5, 2017 |
| KIDINS220 | 1 | Oct 5, 2017 |
| KIF11 | 1 | May 19, 2016 |
| KIF14 | 1 | Oct 5, 2017 |
| KIF1A | 9 | Oct 5, 2017 |
| KIF1B | 2 | Oct 5, 2017 |
| KIF1C | 1 | Oct 5, 2017 |
| KIF2A | 1 | Oct 5, 2017 |
| KIF4A | 2 | Oct 5, 2017 |
| KIF5A | 2 | Oct 5, 2017 |
| KIF7 | 7 | Oct 5, 2017 |
| KISS1R | 1 | May 19, 2016 |
| KIT | 1 | Oct 5, 2017 |
| KLF11 | 1 | Feb 17, 2017 |
| KLHL41 | 1 | Oct 5, 2017 |
| KLKB1 | 2 | Feb 17, 2017 |
| KLLN | 1 | Oct 5, 2017 |
| KMT2A | 12 | Oct 5, 2017 |
| KMT2B | 1 | Oct 5, 2017 |
| KMT2C | 1 | Jun 22, 2018 |
| KMT2D | 27 | Oct 5, 2017 |
| KNL1 | 3 | Oct 5, 2017 |
| KPNA7 | 1 | Oct 5, 2017 |
| KPTN | 4 | Apr 27, 2020 |
| KRAS | 1 | Oct 5, 2017 |
| KRT5 | 2 | Oct 5, 2017 |
| KRT74 | 1 | Feb 17, 2017 |
| KRT83 | 1 | Feb 17, 2017 |
| KRTAP10-1 | 1 | Feb 17, 2017 |
| KRTAP10-10 | 3 | Feb 17, 2017 |
| KRTAP10-4 | 1 | Feb 17, 2017 |
| KRTAP10-6 | 1 | May 19, 2016 |
| KRTAP10-7 | 1 | Feb 17, 2017 |
| L1CAM | 5 | Oct 5, 2017 |
| LAMA1 | 8 | Oct 5, 2017 |
| LAMA2 | 16 | Oct 5, 2017 |
| LAMB1 | 2 | Oct 5, 2017 |
| LAMC3 | 14 | Oct 5, 2017 |
| LAMP2 | 1 | Feb 17, 2017 |
| LARGE1 | 1 | Oct 5, 2017 |
| LARP7 | 2 | Feb 17, 2017 |
| LAS1L | 1 | Feb 17, 2017 |
| LBHD1 | 1 | Feb 17, 2017 |
| LBR | 1 | May 19, 2016 |
| LDB3 | 2 | Oct 5, 2017 |
| LDLR | 1 | May 19, 2016 |
| LDLR-AS1 | 1 | May 19, 2016 |
| LEMD3 | 1 | Feb 17, 2017 |
| LIFR | 3 | Oct 5, 2017 |
| LIG4 | 1 | Oct 5, 2017 |
| LINC02456 | 1 | Feb 17, 2017 |
| LINS1 | 2 | Oct 5, 2017 |
| LMBRD1 | 1 | Oct 5, 2017 |
| LMNA | 5 | Oct 5, 2017 |
| LMNB2 | 1 | Oct 5, 2017 |
| LMX1B | 1 | Feb 17, 2017 |
| LOC100287036 | 3 | Oct 5, 2017 |
| LOC100507346 | 2 | Oct 5, 2017 |
| LOC101927055 | 1 | May 19, 2016 |
| LOC101928008 | 1 | Feb 17, 2017 |
| LOC101928335 | 2 | Mar 11, 2020 |
| LOC102724058 | 3 | Feb 17, 2017 |
| LOC105369937 | 1 | Oct 5, 2017 |
| LOC105371566 | 1 | Feb 17, 2017 |
| LOC105378311 | 1 | Oct 5, 2017 |
| LOC106099062 | 4 | Oct 5, 2017 |
| LOC106501713 | 1 | May 19, 2016 |
| LOC106627981 | 1 | May 19, 2016 |
| LOC106780800 | 1 | Oct 5, 2017 |
| LOC106799833 | 1 | May 19, 2016 |
| LOC106799834 | 1 | Oct 5, 2017 |
| LOC107126288 | 1 | Feb 17, 2017 |
| LOC107133510 | 4 | Oct 5, 2017 |
| LOC107303338 | 6 | Feb 17, 2017 |
| LOC108281134 | 2 | Feb 17, 2017 |
| LOC108663985 | 1 | Oct 5, 2017 |
| LOC108663996 | 1 | Oct 5, 2017 |
| LOC109504725 | 1 | Oct 5, 2017 |
| LOC109611589 | 1 | Feb 17, 2017 |
| LOC110121269 | 1 | Oct 5, 2017 |
| LOC110121486 | 1 | May 19, 2016 |
| LOC110806306 | 1 | May 19, 2016 |
| LOC111674472 | 2 | May 19, 2016 |
| LOC111674475 | 4 | Oct 5, 2017 |
| LOC112529895 | 1 | May 19, 2016 |
| LOC112533672 | 1 | May 19, 2016 |
| LOC112997540 | 2 | Oct 5, 2017 |
| LOC113788277 | 1 | Oct 5, 2017 |
| LOC113788297 | 1 | Oct 5, 2017 |
| LOC113839516 | 1 | Feb 17, 2017 |
| LOC114827851 | 1 | Feb 17, 2017 |
| LOC115308161 | 5 | Oct 5, 2017 |
| LOC121740638 | 1 | Oct 5, 2017 |
| LOC121852963 | 1 | Feb 17, 2017 |
| LOC123864065 | 4 | Feb 17, 2017 |
| LOC126805704 | 1 | Feb 17, 2017 |
| LOC126805822 | 2 | Oct 5, 2017 |
| LOC126805877 | 1 | May 19, 2016 |
| LOC126805944 | 1 | Feb 17, 2017 |
| LOC126806069 | 1 | Feb 17, 2017 |
| LOC126806172 | 1 | Feb 17, 2017 |
| LOC126806211 | 1 | Oct 5, 2017 |
| LOC126806430 | 1 | May 19, 2016 |
| LOC126806431 | 1 | Oct 5, 2017 |
| LOC126806573 | 1 | Feb 17, 2017 |
| LOC126806961 | 1 | May 19, 2016 |
| LOC126807089 | 1 | May 19, 2016 |
| LOC126807094 | 1 | Oct 5, 2017 |
| LOC126807136 | 1 | Feb 17, 2017 |
| LOC126807323 | 1 | Oct 5, 2017 |
| LOC126807509 | 1 | Oct 5, 2017 |
| LOC126859646 | 1 | Feb 17, 2017 |
| LOC126859653 | 3 | Feb 17, 2017 |
| LOC126859807 | 1 | Oct 5, 2017 |
| LOC126860130 | 1 | Oct 5, 2017 |
| LOC126860131 | 1 | Oct 5, 2017 |
| LOC126860403 | 1 | Oct 5, 2017 |
| LOC126860438 | 1 | May 19, 2016 |
| LOC126860498 | 1 | Feb 17, 2017 |
| LOC126860741 | 1 | Feb 17, 2017 |
| LOC126860777 | 1 | Oct 5, 2017 |
| LOC126860933 | 1 | Oct 5, 2017 |
| LOC126861242 | 1 | May 19, 2016 |
| LOC126861358 | 1 | Oct 5, 2017 |
| LOC126861360 | 1 | Feb 17, 2017 |
| LOC126861520 | 1 | Oct 5, 2017 |
| LOC126861526 | 1 | May 19, 2016 |
| LOC126862094 | 1 | Jun 22, 2018 |
| LOC126862216 | 1 | Oct 5, 2017 |
| LOC126862230 | 1 | Feb 17, 2017 |
| LOC126862264 | 2 | May 19, 2016 |
| LOC126862422 | 1 | Oct 5, 2017 |
| LOC126862493 | 1 | Oct 5, 2017 |
| LOC126862500 | 1 | Oct 5, 2017 |
| LOC126862571 | 1 | May 19, 2016 |
| LOC126862634 | 1 | May 19, 2016 |
| LOC126862738 | 1 | Oct 5, 2017 |
| LOC126862860 | 1 | Oct 5, 2017 |
| LOC126862983 | 1 | May 19, 2016 |
| LOC126863087 | 1 | Feb 17, 2017 |
| LOC126863188 | 1 | May 19, 2016 |
| LOC128462377 | 3 | Oct 5, 2017 |
| LOC129930989 | 1 | Feb 17, 2017 |
| LOC129932155 | 1 | Oct 5, 2017 |
| LOC129932761 | 1 | Oct 5, 2017 |
| LOC129934069 | 1 | Feb 17, 2017 |
| LOC129934096 | 1 | May 19, 2016 |
| LOC129934769 | 1 | Oct 5, 2017 |
| LOC129935479 | 1 | May 19, 2016 |
| LOC129936031 | 1 | Feb 17, 2017 |
| LOC129936032 | 1 | Oct 5, 2017 |
| LOC129936434 | 1 | May 19, 2016 |
| LOC129937586 | 1 | Feb 17, 2017 |
| LOC129992304 | 1 | Oct 5, 2017 |
| LOC129992625 | 1 | Feb 17, 2017 |
| LOC129994126 | 2 | Oct 5, 2017 |
| LOC129995978 | 1 | Oct 5, 2017 |
| LOC129996857 | 1 | Feb 17, 2017 |
| LOC129997071 | 1 | Oct 19, 2021 |
| LOC129997381 | 1 | Feb 17, 2017 |
| LOC129997524 | 1 | Oct 5, 2017 |
| LOC129997525 | 1 | Oct 5, 2017 |
| LOC130000338 | 1 | Feb 17, 2017 |
| LOC130001411 | 1 | Feb 17, 2017 |
| LOC130002059 | 2 | Feb 17, 2017 |
| LOC130002133 | 1 | Oct 5, 2017 |
| LOC130004408 | 1 | Feb 17, 2017 |
| LOC130005023 | 1 | Feb 17, 2017 |
| LOC130006027 | 1 | May 19, 2016 |
| LOC130006752 | 1 | May 19, 2016 |
| LOC130006895 | 2 | Oct 5, 2017 |
| LOC130008755 | 1 | Oct 5, 2017 |
| LOC130009266 | 1 | Feb 17, 2017 |
| LOC130009747 | 1 | Oct 5, 2017 |
| LOC130055692 | 1 | Feb 17, 2017 |
| LOC130056217 | 1 | Oct 5, 2017 |
| LOC130058384 | 1 | May 19, 2016 |
| LOC130058543 | 1 | May 19, 2016 |
| LOC130058620 | 1 | Feb 17, 2017 |
| LOC130060041 | 1 | Oct 5, 2017 |
| LOC130060655 | 1 | Feb 17, 2017 |
| LOC130061576 | 1 | Feb 17, 2017 |
| LOC130062062 | 1 | Oct 5, 2017 |
| LOC130062945 | 1 | May 19, 2016 |
| LOC130067574 | 1 | Oct 5, 2017 |
| LOC130067862 | 2 | Feb 17, 2017 |
| LOC130067864 | 1 | Oct 5, 2017 |
| LOC130068621 | 1 | Feb 17, 2017 |
| LOC130068746 | 1 | May 19, 2016 |
| LOC130068760 | 1 | Oct 5, 2017 |
| LOC130068854 | 1 | May 19, 2016 |
| LOC130068886 | 1 | Feb 17, 2017 |
| LOC132090779 | 1 | Oct 5, 2017 |
| LONP1 | 1 | Oct 5, 2017 |
| LOX | 1 | Oct 5, 2017 |
| LOXHD1 | 4 | Oct 5, 2017 |
| LPIN2 | 1 | Oct 5, 2017 |
| LRBA | 2 | Oct 5, 2017 |
| LRIT3 | 1 | Oct 5, 2017 |
| LRP2 | 12 | Oct 5, 2017 |
| LRPPRC | 5 | Oct 5, 2017 |
| LRRC37A2 | 1 | Feb 17, 2017 |
| LRSAM1 | 1 | Feb 17, 2017 |
| LTBP2 | 1 | Oct 5, 2017 |
| LTBP3 | 2 | May 19, 2016 |
| LTBP4 | 2 | Oct 5, 2017 |
| LYST | 4 | Apr 18, 2017 |
| LZTR1 | 1 | Oct 5, 2017 |
| MACROD2 | 1 | May 19, 2016 |
| MAF | 2 | Feb 17, 2017 |
| MAG | 1 | Oct 5, 2017 |
| MAGED2 | 1 | Oct 5, 2017 |
| MAGEL2 | 10 | Oct 5, 2017 |
| MAGT1 | 1 | Oct 5, 2017 |
| MALT1 | 1 | Oct 5, 2017 |
| MAN1B1 | 6 | Oct 5, 2017 |
| MAN2B1 | 4 | Oct 5, 2017 |
| MANBA | 1 | Oct 5, 2017 |
| MAP2K1 | 1 | Feb 17, 2017 |
| MAP2K2 | 1 | Feb 17, 2017 |
| MAP3K1 | 2 | Oct 5, 2017 |
| MAP3K15 | 2 | Oct 5, 2017 |
| MAP3K7 | 1 | Oct 19, 2021 |
| MBD5 | 2 | Oct 5, 2017 |
| MBD6 | 1 | Oct 5, 2017 |
| MBOAT7 | 1 | Oct 5, 2017 |
| MC2R | 1 | Feb 17, 2017 |
| MC4R | 1 | Feb 17, 2017 |
| MCCC1 | 2 | Oct 5, 2017 |
| MCCC2 | 1 | May 19, 2016 |
| MCM4 | 1 | Feb 17, 2017 |
| MCPH1 | 2 | Oct 5, 2017 |
| MDH2 | 1 | Oct 5, 2017 |
| MECP2 | 13 | Oct 5, 2017 |
| MED12 | 7 | Oct 5, 2017 |
| MED13L | 5 | Oct 5, 2017 |
| MED23 | 2 | Oct 5, 2017 |
| MEFV | 7 | Oct 5, 2017 |
| MEGF8 | 4 | Oct 5, 2017 |
| MESP2 | 1 | Oct 5, 2017 |
| MET | 1 | Feb 17, 2017 |
| METTL23 | 2 | Oct 5, 2017 |
| MFF-DT | 1 | Oct 5, 2017 |
| MFN2 | 3 | Oct 19, 2021 |
| MGAT2 | 1 | May 19, 2016 |
| MGME1 | 3 | Oct 5, 2017 |
| MGP | 1 | Feb 17, 2017 |
| MHRT | 1 | Oct 5, 2017 |
| MID1 | 2 | Oct 5, 2017 |
| MID2 | 3 | Mar 11, 2020 |
| MILR1 | 5 | Oct 5, 2017 |
| MIR302CHG | 2 | Feb 17, 2017 |
| MIR4685 | 1 | Jun 3, 2021 |
| MKKS | 2 | Oct 5, 2017 |
| MKS1 | 8 | Oct 5, 2017 |
| MLYCD | 1 | Oct 5, 2017 |
| MMAA | 2 | Oct 5, 2017 |
| MMAB | 4 | Oct 5, 2017 |
| MMACHC | 4 | Oct 5, 2017 |
| MMADHC | 2 | Feb 17, 2017 |
| MMUT | 3 | Oct 5, 2017 |
| MOGS | 3 | Oct 5, 2017 |
| MPDU1 | 1 | Feb 17, 2017 |
| MPDU1-AS1 | 1 | Feb 17, 2017 |
| MPDZ | 4 | Oct 5, 2017 |
| MPI | 1 | May 19, 2016 |
| MRPL16 | 1 | Oct 5, 2017 |
| MRPL3 | 1 | Feb 17, 2017 |
| MRPL44 | 1 | Oct 5, 2017 |
| MRPS22 | 1 | May 19, 2016 |
| MSC-AS1 | 1 | Oct 5, 2017 |
| MSH2 | 1 | Feb 17, 2017 |
| MSH6 | 1 | Oct 5, 2017 |
| MST1R | 1 | Oct 5, 2017 |
| MT-ATP6 | 22 | Oct 5, 2017 |
| MT-ATP8 | 8 | Oct 5, 2017 |
| MT-CO1 | 15 | Oct 5, 2017 |
| MT-CO2 | 7 | Feb 17, 2017 |
| MT-CO3 | 10 | Feb 17, 2017 |
| MT-CYB | 16 | Oct 5, 2017 |
| MT-ND1 | 15 | Oct 5, 2017 |
| MT-ND2 | 11 | Oct 5, 2017 |
| MT-ND3 | 5 | May 19, 2016 |
| MT-ND4 | 8 | Oct 5, 2017 |
| MT-ND4L | 3 | Feb 17, 2017 |
| MT-ND5 | 21 | Oct 5, 2017 |
| MT-ND6 | 3 | Feb 17, 2017 |
| MT-RNR1 | 6 | Oct 5, 2017 |
| MT-RNR2 | 4 | Feb 17, 2017 |
| MT-TA | 1 | May 19, 2016 |
| MT-TC | 1 | May 19, 2016 |
| MT-TD | 1 | May 19, 2016 |
| MT-TE | 1 | May 19, 2016 |
| MT-TG | 1 | May 19, 2016 |
| MT-TH | 3 | Feb 17, 2017 |
| MT-TI | 2 | May 19, 2016 |
| MT-TK | 2 | May 19, 2016 |
| MT-TL1 | 1 | May 19, 2016 |
| MT-TM | 1 | May 19, 2016 |
| MT-TN | 1 | May 19, 2016 |
| MT-TQ | 3 | May 19, 2016 |
| MT-TR | 1 | May 19, 2016 |
| MT-TS1 | 1 | May 19, 2016 |
| MT-TS2 | 2 | May 19, 2016 |
| MT-TW | 2 | May 19, 2016 |
| MT-TY | 1 | May 19, 2016 |
| MTFMT | 2 | Oct 5, 2017 |
| MTIF3 | 1 | Oct 5, 2017 |
| MTM1 | 2 | May 19, 2016 |
| MTMR14 | 1 | Feb 17, 2017 |
| MTO1 | 3 | Oct 5, 2017 |
| MTOR | 1 | May 19, 2016 |
| MTPAP | 1 | Feb 17, 2017 |
| MTR | 1 | Oct 5, 2017 |
| MTRR | 2 | Oct 5, 2017 |
| MUC15 | 1 | May 19, 2016 |
| MUSK | 2 | Oct 5, 2017 |
| MUTYH | 2 | Oct 5, 2017 |
| MVK | 1 | May 19, 2016 |
| MVP-DT | 4 | Oct 5, 2017 |
| MYADML2 | 1 | Jun 22, 2018 |
| MYBPC1 | 2 | Oct 5, 2017 |
| MYBPC3 | 1 | May 19, 2016 |
| MYCN | 2 | Oct 5, 2017 |
| MYD88 | 1 | May 19, 2016 |
| MYH14 | 6 | Oct 5, 2017 |
| MYH2 | 2 | Oct 5, 2017 |
| MYH3 | 3 | Oct 5, 2017 |
| MYH6 | 2 | Oct 5, 2017 |
| MYH7 | 6 | Oct 5, 2017 |
| MYH8 | 2 | Oct 5, 2017 |
| MYH9 | 2 | Oct 5, 2017 |
| MYHAS | 4 | Oct 5, 2017 |
| MYLK | 1 | Oct 5, 2017 |
| MYO15A | 2 | Oct 5, 2017 |
| MYO18B | 3 | Feb 17, 2017 |
| MYO19 | 4 | Oct 5, 2017 |
| MYO3A | 2 | Oct 5, 2017 |
| MYO5A | 2 | Oct 5, 2017 |
| MYO7A | 6 | Oct 5, 2017 |
| MYOC | 1 | Oct 5, 2017 |
| MYPN | 1 | Feb 17, 2017 |
| MYT1L | 3 | Oct 5, 2017 |
| NADSYN1 | 1 | Feb 17, 2017 |
| NAGLU | 1 | May 19, 2016 |
| NAGS | 2 | Feb 17, 2017 |
| NALCN | 1 | Oct 5, 2017 |
| NARS2 | 2 | Feb 17, 2017 |
| NBAS | 4 | Oct 5, 2017 |
| NBN | 2 | Feb 17, 2017 |
| NCAPH2 | 1 | Feb 17, 2017 |
| NDE1 | 1 | Oct 5, 2017 |
| NDN | 1 | Oct 5, 2017 |
| NDP | 1 | Feb 17, 2017 |
| NDP-AS1 | 1 | Feb 17, 2017 |
| NDST1 | 1 | Oct 5, 2017 |
| NDUFA1 | 1 | Feb 17, 2017 |
| NDUFA10 | 2 | Oct 5, 2017 |
| NDUFA2 | 2 | Oct 5, 2017 |
| NDUFA9 | 1 | Feb 17, 2017 |
| NDUFAF1 | 1 | Feb 17, 2017 |
| NDUFAF3 | 1 | Feb 17, 2017 |
| NDUFAF4 | 1 | Feb 17, 2017 |
| NDUFAF5 | 1 | Feb 17, 2017 |
| NDUFAF6 | 2 | Oct 5, 2017 |
| NDUFB11 | 1 | Oct 5, 2017 |
| NDUFB9 | 1 | Feb 17, 2017 |
| NDUFS1 | 3 | Oct 5, 2017 |
| NDUFS2 | 2 | May 19, 2016 |
| NDUFS8 | 2 | Oct 5, 2017 |
| NDUFV1 | 1 | May 19, 2016 |
| NDUFV2 | 2 | Oct 5, 2017 |
| NDUFV2-AS1 | 2 | Oct 5, 2017 |
| NEB | 9 | Oct 5, 2017 |
| NECTIN1 | 1 | Oct 5, 2017 |
| NEXMIF | 2 | Feb 17, 2017 |
| NF1 | 18 | Oct 5, 2017 |
| NFIA | 1 | Oct 5, 2017 |
| NFKB1 | 1 | Oct 5, 2017 |
| NHEJ1 | 1 | May 19, 2016 |
| NHP2 | 1 | Oct 5, 2017 |
| NHS | 2 | Oct 5, 2017 |
| NIN | 2 | Oct 5, 2017 |
| NIP7 | 1 | Feb 17, 2017 |
| NIPBL | 6 | Oct 5, 2017 |
| NKX2-5 | 2 | Oct 5, 2017 |
| NLGN3 | 1 | Oct 5, 2017 |
| NLGN4X | 1 | Feb 17, 2017 |
| NLGN4Y | 1 | Jun 22, 2018 |
| NLRP14 | 1 | May 19, 2016 |
| NLRP3 | 3 | Oct 5, 2017 |
| NOD2 | 1 | Oct 5, 2017 |
| NOG | 2 | Oct 5, 2017 |
| NOP10 | 1 | May 19, 2016 |
| NOTCH1 | 3 | Oct 5, 2017 |
| NOTCH2 | 6 | Oct 5, 2017 |
| NOTCH3 | 2 | Oct 5, 2017 |
| NPC1 | 3 | Oct 5, 2017 |
| NPC1L1 | 1 | Oct 5, 2017 |
| NPC2 | 2 | Feb 17, 2017 |
| NPHP1 | 1 | May 19, 2016 |
| NPHP3 | 6 | Feb 17, 2017 |
| NPHP3-ACAD11 | 6 | Feb 17, 2017 |
| NPHP3-AS1 | 1 | Feb 17, 2017 |
| NPHP4 | 3 | May 19, 2016 |
| NPR2 | 1 | Oct 5, 2017 |
| NPRL3 | 3 | Oct 5, 2017 |
| NR2E3 | 1 | Oct 5, 2017 |
| NRXN1 | 2 | Oct 5, 2017 |
| NSD1 | 4 | Oct 5, 2017 |
| NSDHL | 1 | Oct 5, 2017 |
| NSUN2 | 2 | Feb 17, 2017 |
| NT5DC1 | 1 | Feb 17, 2017 |
| NTRK1 | 2 | May 19, 2016 |
| NUBPL | 4 | Oct 5, 2017 |
| NUP62 | 1 | Feb 17, 2017 |
| OBSL1 | 5 | Oct 5, 2017 |
| OCLN | 1 | Feb 17, 2017 |
| OCRL | 3 | Oct 5, 2017 |
| ODAD3 | 1 | Oct 5, 2017 |
| OFD1 | 2 | Oct 5, 2017 |
| OMG | 2 | Oct 5, 2017 |
| OPA1 | 1 | Oct 5, 2017 |
| OPHN1 | 5 | Oct 5, 2017 |
| ORC1 | 3 | Oct 5, 2017 |
| OTOA | 1 | Oct 5, 2017 |
| OTOF | 4 | Oct 5, 2017 |
| OTOG | 6 | Feb 17, 2017 |
| OTOGL | 1 | Oct 5, 2017 |
| OTOP2 | 1 | Feb 17, 2017 |
| OXTR | 1 | Feb 17, 2017 |
| P3H1 | 1 | Oct 5, 2017 |
| PACS1 | 1 | Feb 17, 2017 |
| PAH | 8 | Oct 5, 2017 |
| PALB2 | 3 | Oct 5, 2017 |
| PANK2 | 1 | May 19, 2016 |
| PARN | 1 | Feb 17, 2017 |
| PAX1 | 2 | Oct 5, 2017 |
| PAX2 | 1 | May 19, 2016 |
| PAX3 | 1 | May 19, 2016 |
| PC | 4 | Oct 5, 2017 |
| PCARE | 2 | Oct 5, 2017 |
| PCCA | 3 | Oct 5, 2017 |
| PCCB | 1 | Feb 17, 2017 |
| PCDH15 | 5 | Oct 5, 2017 |
| PCDH19 | 5 | Oct 5, 2017 |
| PCLO | 1 | Feb 17, 2017 |
| PCNT | 6 | Oct 5, 2017 |
| PDE10A | 1 | Jun 22, 2018 |
| PDE11A | 1 | Feb 17, 2017 |
| PDE4A | 1 | Oct 5, 2017 |
| PDE4D | 2 | Oct 5, 2017 |
| PDE6B | 1 | Feb 17, 2017 |
| PDE6D | 1 | Oct 5, 2017 |
| PDGFRB | 2 | Oct 5, 2017 |
| PDHA1 | 8 | Oct 5, 2017 |
| PDHX | 2 | Feb 17, 2017 |
| PDSS1 | 1 | Feb 17, 2017 |
| PDX1 | 1 | Oct 5, 2017 |
| PDYN | 1 | Feb 17, 2017 |
| PDYN-AS1 | 1 | Feb 17, 2017 |
| PEPD | 1 | Oct 5, 2017 |
| PER2 | 1 | Feb 17, 2017 |
| PET100 | 1 | May 19, 2016 |
| PEX1 | 3 | Oct 5, 2017 |
| PEX10 | 3 | Oct 5, 2017 |
| PEX12 | 3 | Oct 5, 2017 |
| PEX13 | 1 | Feb 17, 2017 |
| PEX16 | 2 | Oct 5, 2017 |
| PEX19 | 2 | Oct 5, 2017 |
| PEX2 | 2 | Oct 5, 2017 |
| PEX26 | 2 | May 19, 2016 |
| PEX5 | 3 | Oct 5, 2017 |
| PEX6 | 6 | Oct 5, 2017 |
| PEX7 | 1 | Feb 17, 2017 |
| PGAM4 | 1 | May 19, 2016 |
| PGAP1 | 1 | Oct 5, 2017 |
| PGAP2 | 1 | Feb 17, 2017 |
| PGAP3 | 2 | Feb 17, 2017 |
| PGBD3 | 1 | May 19, 2016 |
| PGM1 | 1 | Oct 5, 2017 |
| PGM3 | 1 | Oct 5, 2017 |
| PHC1 | 2 | Feb 17, 2017 |
| PHF8 | 3 | Oct 5, 2017 |
| PHGDH | 1 | Oct 5, 2017 |
| PHKA2 | 2 | Oct 5, 2017 |
| PHKB | 2 | Oct 5, 2017 |
| PI4KA | 1 | Oct 5, 2017 |
| PIEZO1 | 2 | Oct 5, 2017 |
| PIEZO2 | 4 | Oct 5, 2017 |
| PIGA | 3 | Oct 5, 2017 |
| PIGG | 6 | Oct 5, 2017 |
| PIGL | 2 | Feb 17, 2017 |
| PIGN | 2 | Oct 5, 2017 |
| PIGO | 1 | Oct 5, 2017 |
| PIGT | 2 | Feb 17, 2017 |
| PIGV | 2 | Oct 5, 2017 |
| PIGW | 4 | Oct 5, 2017 |
| PIK3CD | 1 | May 19, 2016 |
| PIK3R2 | 3 | Oct 5, 2017 |
| PIK3R5 | 1 | Oct 5, 2017 |
| PINK1 | 1 | Oct 5, 2017 |
| PKD1 | 2 | Feb 17, 2017 |
| PKD2 | 1 | Feb 17, 2017 |
| PKHD1 | 17 | Feb 17, 2017 |
| PKLR | 2 | May 19, 2016 |
| PKP2 | 2 | Feb 17, 2017 |
| PLA2G6 | 1 | May 19, 2016 |
| PLCB1 | 3 | Oct 5, 2017 |
| PLCE1 | 1 | Oct 5, 2017 |
| PLCG2 | 3 | Oct 5, 2017 |
| PLEC | 7 | Oct 5, 2017 |
| PLEKHG2 | 4 | Oct 5, 2017 |
| PLEKHG5 | 2 | Feb 17, 2017 |
| PLOD3 | 1 | Oct 5, 2017 |
| PLP1 | 2 | Oct 5, 2017 |
| PLPBP | 1 | Oct 5, 2017 |
| PMM2 | 6 | Oct 5, 2017 |
| PMP22 | 2 | May 19, 2016 |
| PMS2 | 4 | Oct 5, 2017 |
| PMVK | 1 | Feb 17, 2017 |
| PNKD | 2 | Oct 5, 2017 |
| PNKP | 6 | Oct 5, 2017 |
| PNP | 1 | Oct 5, 2017 |
| PNPLA6 | 3 | Oct 5, 2017 |
| PNPT1 | 1 | Feb 17, 2017 |
| POC1A | 1 | Oct 5, 2017 |
| POFUT1 | 1 | Oct 5, 2017 |
| POGZ | 2 | Oct 5, 2017 |
| POLE | 4 | Oct 5, 2017 |
| POLG | 19 | Oct 5, 2017 |
| POLG2 | 5 | Oct 5, 2017 |
| POLGARF | 19 | Oct 5, 2017 |
| POLK | 1 | Oct 5, 2017 |
| POLR1A | 1 | Oct 5, 2017 |
| POLR1C | 6 | Oct 19, 2021 |
| POLR1G | 1 | May 19, 2016 |
| POLR2F | 1 | Feb 17, 2017 |
| POLR3A | 6 | Oct 5, 2017 |
| POMGNT1 | 1 | May 19, 2016 |
| POMGNT2 | 2 | Oct 5, 2017 |
| POMT1 | 5 | Oct 5, 2017 |
| POPDC1 | 1 | Feb 17, 2017 |
| POTEI | 1 | Feb 17, 2017 |
| PPP1CB | 1 | Oct 5, 2017 |
| PPP2R2B | 1 | Oct 5, 2017 |
| PPT1 | 4 | Oct 5, 2017 |
| PRDM16 | 2 | Feb 17, 2017 |
| PRDM8 | 1 | Oct 5, 2017 |
| PRF1 | 2 | Jan 31, 2025 |
| PRICKLE1 | 1 | Feb 17, 2017 |
| PRKCG | 1 | Oct 5, 2017 |
| PRKD1 | 1 | Oct 5, 2017 |
| PRKDC | 2 | Feb 17, 2017 |
| PRKN | 4 | Oct 5, 2017 |
| PRMT7 | 1 | Oct 5, 2017 |
| PRODH | 1 | Oct 5, 2017 |
| PROP1 | 1 | Feb 17, 2017 |
| PROS1 | 1 | Oct 5, 2017 |
| PRRT2 | 4 | Oct 5, 2017 |
| PRSS12 | 2 | Oct 5, 2017 |
| PRX | 1 | May 19, 2016 |
| PSAP | 1 | Oct 5, 2017 |
| PTCH1 | 8 | Oct 5, 2017 |
| PTCH2 | 1 | Oct 5, 2017 |
| PTEN | 3 | Oct 19, 2021 |
| PTH1R | 1 | Oct 5, 2017 |
| PTPN11 | 8 | Feb 17, 2017 |
| PTPRQ | 1 | Feb 17, 2017 |
| PYGM | 1 | Feb 17, 2017 |
| PYY | 2 | Feb 17, 2017 |
| QDPR | 1 | Oct 5, 2017 |
| RAB23 | 1 | Feb 17, 2017 |
| RAB27A | 1 | May 19, 2016 |
| RAB33A | 2 | Oct 5, 2017 |
| RAB3GAP1 | 2 | Feb 17, 2017 |
| RAB3GAP2 | 2 | May 19, 2016 |
| RAB9B | 2 | Oct 5, 2017 |
| RAD21 | 1 | Oct 5, 2017 |
| RAD50 | 2 | Oct 5, 2017 |
| RAD51C | 1 | Feb 17, 2017 |
| RAG1 | 3 | Oct 5, 2017 |
| RAI1 | 7 | Oct 5, 2017 |
| RANBP2 | 6 | Oct 5, 2017 |
| RAPSN | 2 | May 19, 2016 |
| RB1 | 1 | May 19, 2016 |
| RBBP8 | 2 | Feb 17, 2017 |
| RBM10 | 2 | Oct 5, 2017 |
| RBP3 | 1 | May 19, 2016 |
| RD3 | 2 | Oct 5, 2017 |
| RDX | 1 | Feb 17, 2017 |
| RECQL4 | 6 | Oct 5, 2017 |
| REEP1 | 1 | Oct 5, 2017 |
| RELN | 14 | Oct 5, 2017 |
| RERE | 7 | Oct 5, 2017 |
| REST | 1 | Jun 22, 2018 |
| RET | 5 | Oct 5, 2017 |
| RFX6 | 1 | Feb 17, 2017 |
| RIF1 | 2 | Feb 17, 2017 |
| RIGI | 1 | Oct 5, 2017 |
| RIN2 | 1 | Oct 5, 2017 |
| RIPK4 | 1 | May 19, 2016 |
| RIPOR2 | 2 | Oct 5, 2017 |
| RLIM | 1 | Oct 5, 2017 |
| RMND1 | 3 | Feb 17, 2017 |
| RNASEH2A | 1 | Oct 5, 2017 |
| RNASEH2B | 1 | Feb 17, 2017 |
| RNASEH2C | 2 | Oct 5, 2017 |
| RNASET2 | 1 | Feb 17, 2017 |
| RNF125 | 1 | Feb 17, 2017 |
| RNF135 | 3 | Oct 5, 2017 |
| RNF213 | 1 | Feb 17, 2017 |
| RNU4ATAC | 2 | Oct 19, 2021 |
| ROGDI | 2 | Oct 5, 2017 |
| ROR2 | 2 | Oct 5, 2017 |
| RORA | 1 | Jun 22, 2018 |
| RORA-AS1 | 1 | Jun 22, 2018 |
| RPGR | 8 | Oct 5, 2017 |
| RPGRIP1 | 1 | May 19, 2016 |
| RPGRIP1L | 8 | Oct 5, 2017 |
| RPL10 | 1 | Oct 5, 2017 |
| RPL11 | 1 | Oct 5, 2017 |
| RPL17 | 1 | Apr 30, 2024 |
| RPL17-C18orf32 | 1 | Apr 30, 2024 |
| RPL36A-HNRNPH2 | 5 | Oct 5, 2017 |
| RPL5 | 1 | Oct 5, 2017 |
| RRM2B | 2 | Feb 17, 2017 |
| RS1 | 1 | May 19, 2016 |
| RTN2 | 1 | Feb 17, 2017 |
| RTTN | 4 | Oct 5, 2017 |
| RUBCN | 1 | Feb 17, 2017 |
| RUNX2 | 2 | Oct 5, 2017 |
| RXYLT1 | 2 | Feb 17, 2017 |
| RYR1 | 11 | Oct 5, 2017 |
| RYR2 | 5 | Oct 5, 2017 |
| RYR3 | 4 | Jun 22, 2018 |
| SACS | 7 | Oct 5, 2017 |
| SAG | 1 | Feb 17, 2017 |
| SALL1 | 4 | Oct 5, 2017 |
| SALL4 | 1 | Feb 17, 2017 |
| SAMD9 | 1 | Oct 5, 2017 |
| SAMHD1 | 1 | Oct 5, 2017 |
| SARM1 | 1 | May 19, 2016 |
| SARS2 | 1 | Feb 17, 2017 |
| SASS6 | 1 | Feb 17, 2017 |
| SBF1 | 1 | May 19, 2016 |
| SBF2 | 2 | Oct 5, 2017 |
| SBNO2 | 1 | Jun 22, 2018 |
| SCAMP4 | 2 | Oct 5, 2017 |
| SCARB2 | 2 | Feb 17, 2017 |
| SCARF2 | 1 | Oct 5, 2017 |
| SCN10A | 3 | Oct 5, 2017 |
| SCN1A | 6 | Feb 17, 2017 |
| SCN1A-AS1 | 12 | Oct 5, 2017 |
| SCN1B | 1 | Feb 17, 2017 |
| SCN2A | 5 | Oct 5, 2017 |
| SCN4A | 6 | Oct 19, 2021 |
| SCN5A | 5 | Oct 5, 2017 |
| SCN7A | 1 | Oct 5, 2017 |
| SCN8A | 4 | Oct 5, 2017 |
| SCN9A | 14 | Oct 5, 2017 |
| SCNN1G | 1 | May 19, 2016 |
| SCO1 | 1 | May 19, 2016 |
| SCO2 | 2 | Feb 17, 2017 |
| SDCCAG8 | 1 | Feb 17, 2017 |
| SDHA | 3 | Oct 5, 2017 |
| SDHB | 3 | Oct 5, 2017 |
| SDHD | 1 | Oct 5, 2017 |
| SDK1 | 1 | Oct 5, 2017 |
| SEC23B | 1 | Feb 17, 2017 |
| SEC24D | 2 | Oct 5, 2017 |
| SEMA3E | 1 | May 19, 2016 |
| SERAC1 | 3 | Oct 5, 2017 |
| SERPINI1 | 3 | Oct 5, 2017 |
| SETBP1 | 3 | Feb 17, 2017 |
| SETD2 | 2 | Oct 5, 2017 |
| SETD5 | 4 | Oct 5, 2017 |
| SETX | 2 | Oct 5, 2017 |
| SFTPB | 1 | May 19, 2016 |
| SFTPC | 1 | May 19, 2016 |
| SGCA | 1 | Feb 17, 2017 |
| SGCD | 1 | Oct 5, 2017 |
| SGCE | 1 | May 19, 2016 |
| SGSH | 3 | Oct 5, 2017 |
| SH2D1A | 1 | Feb 17, 2017 |
| SH3PXD2B | 5 | Oct 5, 2017 |
| SH3TC2 | 1 | Feb 17, 2017 |
| SHANK3 | 4 | Oct 5, 2017 |
| SHOC2 | 1 | Oct 5, 2017 |
| SHROOM4 | 4 | Oct 5, 2017 |
| SI | 2 | Oct 5, 2017 |
| SIK1 | 3 | Feb 17, 2017 |
| SIL1 | 4 | Feb 17, 2017 |
| SIX3 | 1 | Oct 5, 2017 |
| SIX6 | 1 | Oct 5, 2017 |
| SKI | 3 | Oct 5, 2017 |
| SKIC2 | 3 | Feb 17, 2017 |
| SKIC3 | 5 | Oct 5, 2017 |
| SLC11A2 | 1 | Oct 5, 2017 |
| SLC12A1 | 1 | Oct 5, 2017 |
| SLC12A3 | 1 | Oct 5, 2017 |
| SLC12A5 | 3 | Oct 5, 2017 |
| SLC12A6 | 3 | Feb 17, 2017 |
| SLC16A2 | 2 | Oct 5, 2017 |
| SLC17A5 | 2 | May 19, 2016 |
| SLC19A1 | 6 | Oct 5, 2017 |
| SLC19A3 | 2 | Oct 5, 2017 |
| SLC1A2 | 1 | Feb 17, 2017 |
| SLC22A5 | 4 | Oct 5, 2017 |
| SLC24A2 | 1 | Oct 5, 2017 |
| SLC25A15 | 1 | Oct 5, 2017 |
| SLC25A20 | 1 | May 19, 2016 |
| SLC25A26 | 1 | Feb 17, 2017 |
| SLC26A1 | 4 | Oct 5, 2017 |
| SLC26A2 | 1 | May 19, 2016 |
| SLC26A3 | 1 | Oct 5, 2017 |
| SLC26A4 | 4 | Oct 5, 2017 |
| SLC26A5-AS1 | 2 | Oct 5, 2017 |
| SLC2A1 | 2 | Oct 5, 2017 |
| SLC33A1 | 1 | Feb 17, 2017 |
| SLC34A3 | 1 | Oct 5, 2017 |
| SLC35A1 | 3 | Oct 5, 2017 |
| SLC35C1 | 1 | Oct 5, 2017 |
| SLC35D2-HSD17B3 | 2 | Oct 5, 2017 |
| SLC37A4 | 1 | May 19, 2016 |
| SLC39A13 | 1 | Oct 5, 2017 |
| SLC39A4 | 1 | Feb 17, 2017 |
| SLC46A1 | 1 | May 19, 2016 |
| SLC4A1 | 1 | May 19, 2016 |
| SLC4A4 | 1 | Oct 5, 2017 |
| SLC52A1 | 1 | Feb 17, 2017 |
| SLC52A2 | 1 | May 19, 2016 |
| SLC52A3 | 1 | Oct 5, 2017 |
| SLC5A1 | 1 | Feb 17, 2017 |
| SLC5A5 | 1 | Feb 17, 2017 |
| SLC6A1 | 2 | Feb 17, 2017 |
| SLC6A17 | 1 | Feb 17, 2017 |
| SLC6A19 | 3 | Oct 5, 2017 |
| SLC6A3 | 1 | Feb 17, 2017 |
| SLC6A5 | 1 | Feb 17, 2017 |
| SLC6A8 | 4 | Oct 5, 2017 |
| SLC9A6 | 2 | May 19, 2016 |
| SLC9B1 | 1 | Feb 17, 2017 |
| SLCO1B1 | 1 | Feb 17, 2017 |
| SLCO1B3 | 2 | Feb 17, 2017 |
| SLCO1B3-SLCO1B7 | 2 | Feb 17, 2017 |
| SLX4 | 10 | Feb 17, 2017 |
| SMARCA2 | 1 | Oct 5, 2017 |
| SMARCA4 | 9 | Oct 5, 2017 |
| SMARCB1 | 1 | Oct 5, 2017 |
| SMC3 | 2 | Oct 5, 2017 |
| SMO | 2 | Oct 5, 2017 |
| SMPD1 | 6 | Oct 5, 2017 |
| SMPX | 2 | Oct 5, 2017 |
| SNAP29 | 2 | May 19, 2016 |
| SNHG14 | 3 | Oct 5, 2017 |
| SNIP1 | 1 | Feb 17, 2017 |
| SNRPN | 1 | Oct 5, 2017 |
| SNURF | 1 | Oct 5, 2017 |
| SNX14 | 1 | Feb 17, 2017 |
| SOBP | 3 | Oct 5, 2017 |
| SOS1 | 6 | Oct 5, 2017 |
| SOS2 | 6 | Oct 5, 2017 |
| SOX10 | 1 | Feb 17, 2017 |
| SOX11 | 3 | Oct 5, 2017 |
| SOX3 | 3 | Feb 17, 2017 |
| SP110 | 1 | May 19, 2016 |
| SP140 | 1 | May 19, 2016 |
| SPAG1 | 1 | Oct 5, 2017 |
| SPAG5-AS1 | 1 | Jun 22, 2018 |
| SPART | 1 | Feb 17, 2017 |
| SPAST | 3 | Feb 17, 2017 |
| SPATA22 | 1 | May 19, 2016 |
| SPECC1L | 3 | Oct 19, 2021 |
| SPECC1L-ADORA2A | 3 | Oct 19, 2021 |
| SPG11 | 7 | Oct 5, 2017 |
| SPG7 | 1 | Feb 17, 2017 |
| SPINK1 | 3 | Oct 5, 2017 |
| SPINK5 | 1 | Oct 5, 2017 |
| SPR | 2 | Feb 17, 2017 |
| SPRED1 | 1 | Oct 5, 2017 |
| SPTA1 | 1 | May 19, 2016 |
| SPTAN1 | 3 | Oct 5, 2017 |
| SPTLC2 | 1 | Oct 5, 2017 |
| SRCAP | 6 | Oct 5, 2017 |
| SRD5A3 | 1 | Oct 5, 2017 |
| SRD5A3-AS1 | 1 | Oct 5, 2017 |
| SRFBP1 | 1 | Oct 5, 2017 |
| SRP72 | 1 | Feb 17, 2017 |
| SRPX2 | 1 | Feb 17, 2017 |
| ST3GAL3 | 1 | Oct 5, 2017 |
| ST6GALNAC4-ST6GALNAC6-AK1 | 1 | Feb 17, 2017 |
| STAT2 | 1 | Oct 5, 2017 |
| STAT3 | 1 | May 19, 2016 |
| STIL | 5 | Oct 5, 2017 |
| STIM1 | 1 | May 19, 2016 |
| STRA6 | 1 | Oct 5, 2017 |
| STRADA | 1 | Feb 17, 2017 |
| STRC | 1 | Oct 5, 2017 |
| STS | 2 | Oct 5, 2017 |
| STX1B | 1 | Feb 17, 2017 |
| STXBP1 | 1 | Feb 17, 2017 |
| STXBP2 | 3 | Oct 5, 2017 |
| STYXL1 | 1 | Oct 5, 2017 |
| SUCLA2 | 4 | Oct 5, 2017 |
| SUCLG1 | 2 | Feb 17, 2017 |
| SUFU | 1 | Feb 17, 2017 |
| SUOX | 1 | Feb 17, 2017 |
| SURF1 | 3 | Feb 17, 2017 |
| SYCE2 | 1 | Oct 5, 2017 |
| SYN1 | 3 | Oct 5, 2017 |
| SYNE1 | 5 | Oct 5, 2017 |
| SYNE2 | 4 | Oct 5, 2017 |
| SYNE4 | 1 | May 19, 2016 |
| SYNGAP1 | 2 | Feb 17, 2017 |
| SYNGAP1-AS1 | 2 | Feb 17, 2017 |
| SYNJ1 | 1 | Oct 5, 2017 |
| SYNPO | 1 | Oct 5, 2017 |
| SYT2 | 1 | Oct 5, 2017 |
| SZT2 | 10 | Oct 5, 2017 |
| TACO1 | 1 | Feb 17, 2017 |
| TACR3 | 1 | Oct 5, 2017 |
| TAF1 | 1 | Oct 5, 2017 |
| TAFAZZIN | 1 | May 19, 2016 |
| TALDO1 | 1 | Feb 17, 2017 |
| TANGO2 | 1 | Feb 17, 2017 |
| TAP2 | 1 | Feb 17, 2017 |
| TARS2 | 1 | Oct 5, 2017 |
| TBC1D24 | 4 | Oct 5, 2017 |
| TBCD | 1 | Oct 5, 2017 |
| TBCE | 4 | Oct 5, 2017 |
| TBCEL-TECTA | 1 | Feb 17, 2017 |
| TBCK | 2 | Oct 19, 2021 |
| TBL1XR1 | 3 | Jun 22, 2018 |
| TBP | 1 | Oct 5, 2017 |
| TBX1 | 1 | Oct 5, 2017 |
| TBX20 | 1 | Oct 5, 2017 |
| TBX22 | 1 | Oct 5, 2017 |
| TBX5 | 5 | Oct 5, 2017 |
| TBXT | 1 | Oct 5, 2017 |
| TCF12 | 3 | Feb 17, 2017 |
| TCF3 | 1 | Oct 5, 2017 |
| TCF4 | 2 | Feb 17, 2017 |
| TCIRG1 | 6 | May 19, 2016 |
| TCN2 | 2 | Feb 17, 2017 |
| TCOF1 | 7 | Oct 5, 2017 |
| TCTN1 | 5 | Oct 5, 2017 |
| TCTN2 | 2 | Feb 17, 2017 |
| TCTN3 | 2 | Feb 17, 2017 |
| TECPR2 | 1 | Oct 5, 2017 |
| TECR | 1 | Feb 17, 2017 |
| TECTA | 1 | Feb 17, 2017 |
| TELO2 | 1 | Feb 17, 2017 |
| TERC | 1 | May 19, 2016 |
| TERT | 1 | Feb 17, 2017 |
| TF | 1 | Feb 17, 2017 |
| TFAP2A | 1 | Oct 5, 2017 |
| TFAP2A-AS2 | 1 | Oct 5, 2017 |
| TG | 2 | Feb 17, 2017 |
| TGFB2 | 1 | Oct 5, 2017 |
| TGFB3 | 1 | Feb 17, 2017 |
| TGM1 | 3 | Oct 5, 2017 |
| THOC2 | 2 | Oct 5, 2017 |
| THRB | 1 | Feb 17, 2017 |
| TIALD | 1 | May 19, 2016 |
| TIGD1 | 2 | May 19, 2016 |
| TKT | 2 | Oct 5, 2017 |
| TMBIM1 | 1 | Oct 5, 2017 |
| TMC1 | 1 | Oct 5, 2017 |
| TMCO6 | 2 | Oct 5, 2017 |
| TMEM216 | 3 | Oct 5, 2017 |
| TMEM231 | 4 | Oct 5, 2017 |
| TMEM67 | 5 | Oct 5, 2017 |
| TMEM70 | 2 | Oct 5, 2017 |
| TMPPE | 1 | May 19, 2016 |
| TMPRSS6 | 2 | Feb 17, 2017 |
| TNC | 3 | Oct 5, 2017 |
| TNFAIP3 | 1 | Oct 5, 2017 |
| TNFRSF13B | 2 | Oct 5, 2017 |
| TNFRSF13C | 1 | Oct 5, 2017 |
| TNIK | 3 | Oct 5, 2017 |
| TNNI3 | 1 | May 19, 2016 |
| TNNT2 | 1 | Feb 17, 2017 |
| TNPO3 | 1 | Oct 5, 2017 |
| TNXB | 7 | Oct 5, 2017 |
| TOE1 | 1 | Oct 5, 2017 |
| TOPORS | 1 | Oct 5, 2017 |
| TOR1A | 1 | Oct 5, 2017 |
| TP53BP1 | 1 | Feb 17, 2017 |
| TP63 | 1 | Oct 5, 2017 |
| TPK1 | 1 | Feb 17, 2017 |
| TPM3 | 1 | Oct 5, 2017 |
| TPP1 | 3 | Feb 17, 2017 |
| TPRN | 1 | Feb 17, 2017 |
| TRAPPC9 | 6 | Oct 5, 2017 |
| TREH | 2 | Feb 17, 2017 |
| TREM2 | 5 | Oct 5, 2017 |
| TREX1 | 2 | Feb 17, 2017 |
| TRH | 1 | Oct 5, 2017 |
| TRIM37 | 1 | Oct 5, 2017 |
| TRIM59-IFT80 | 1 | May 19, 2016 |
| TRIO | 7 | Oct 5, 2017 |
| TRIOBP | 2 | Feb 17, 2017 |
| TRIP11 | 2 | Oct 5, 2017 |
| TRIP4 | 1 | Jun 22, 2018 |
| TRMT10C | 1 | Feb 17, 2017 |
| TRMT5 | 2 | Oct 5, 2017 |
| TRPA1 | 1 | Oct 5, 2017 |
| TRPM4 | 2 | Feb 17, 2017 |
| TRPS1 | 2 | Oct 5, 2017 |
| TRPV4 | 4 | Oct 5, 2017 |
| TSC1 | 4 | Oct 5, 2017 |
| TSC2 | 21 | Oct 5, 2017 |
| TSEN2 | 1 | May 19, 2016 |
| TSEN54 | 4 | Oct 5, 2017 |
| TSFM | 3 | Feb 17, 2017 |
| TSHZ1 | 1 | Feb 17, 2017 |
| TSPAN1 | 1 | May 19, 2016 |
| TSPEAR | 7 | Feb 17, 2017 |
| TTC21B | 2 | Oct 5, 2017 |
| TTC36-AS1 | 2 | Oct 5, 2017 |
| TTC7A | 4 | Oct 5, 2017 |
| TTC8 | 1 | Oct 5, 2017 |
| TTI2 | 2 | Oct 5, 2017 |
| TTLL5 | 1 | Feb 17, 2017 |
| TTN | 17 | Oct 5, 2017 |
| TTN-AS1 | 7 | Oct 5, 2017 |
| TUBA1A | 1 | Feb 17, 2017 |
| TUBA8 | 2 | May 19, 2016 |
| TUBB | 1 | Feb 17, 2017 |
| TUBB1 | 1 | Feb 17, 2017 |
| TUBG1 | 1 | Oct 5, 2017 |
| TUBGCP4 | 2 | Feb 17, 2017 |
| TUBGCP6 | 5 | Oct 5, 2017 |
| TUSC3 | 1 | Feb 17, 2017 |
| TWIST1 | 1 | May 19, 2016 |
| TXN2 | 1 | Oct 5, 2017 |
| TYK2 | 1 | Oct 5, 2017 |
| TYMP | 4 | Oct 5, 2017 |
| TYROBP | 1 | Feb 17, 2017 |
| UBE2H | 1 | Jun 22, 2018 |
| UBE3A | 2 | Oct 5, 2017 |
| UBR1 | 1 | May 19, 2016 |
| UNC13D | 4 | Oct 5, 2017 |
| UNC80 | 4 | Oct 5, 2017 |
| UNC93B1 | 1 | May 19, 2016 |
| UPB1 | 4 | Oct 5, 2017 |
| UQCC3 | 1 | Feb 17, 2017 |
| UQCRQ | 1 | Oct 5, 2017 |
| UROC1 | 1 | Feb 17, 2017 |
| USH1C | 1 | Feb 17, 2017 |
| USH1G | 2 | Oct 5, 2017 |
| USH2A | 3 | Oct 5, 2017 |
| USP9X | 6 | Oct 5, 2017 |
| UTP14C | 1 | May 19, 2016 |
| VANGL1 | 2 | Oct 5, 2017 |
| VAPB | 1 | Oct 5, 2017 |
| VARS2 | 5 | Oct 5, 2017 |
| VCF1 | 1 | Oct 5, 2017 |
| VHL | 2 | Oct 5, 2017 |
| VLDLR | 1 | Oct 5, 2017 |
| VMA12 | 1 | Oct 5, 2017 |
| VMA22 | 1 | Oct 5, 2017 |
| VPS13A | 1 | Feb 17, 2017 |
| VPS13B | 19 | Oct 5, 2017 |
| VPS4A | 1 | Feb 17, 2017 |
| VPS53 | 2 | Oct 5, 2017 |
| VRK1 | 1 | Oct 5, 2017 |
| VWF | 3 | Oct 5, 2017 |
| WAC | 2 | Oct 5, 2017 |
| WAS | 4 | Oct 5, 2017 |
| WASHC4 | 3 | May 19, 2016 |
| WASHC5 | 1 | Feb 17, 2017 |
| WDPCP | 4 | Oct 5, 2017 |
| WDR62 | 6 | Oct 5, 2017 |
| WDR72 | 1 | Feb 17, 2017 |
| WDR73 | 1 | May 19, 2016 |
| WDR81 | 6 | Feb 17, 2017 |
| WFS1 | 5 | Oct 5, 2017 |
| WHRN | 2 | Oct 5, 2017 |
| WWOX | 7 | Oct 5, 2017 |
| XYLT2 | 1 | Feb 17, 2017 |
| YARS2 | 2 | Oct 5, 2017 |
| ZBTB18 | 1 | Feb 17, 2017 |
| ZC3H14 | 1 | Oct 5, 2017 |
| ZC4H2 | 2 | Oct 5, 2017 |
| ZDHHC15 | 1 | Oct 5, 2017 |
| ZDHHC24 | 2 | Feb 17, 2017 |
| ZEB2 | 12 | Oct 5, 2017 |
| ZFPM2 | 1 | Oct 5, 2017 |
| ZFPM2-AS1 | 1 | Oct 5, 2017 |
| ZFYVE26 | 2 | Oct 5, 2017 |
| ZFYVE27 | 1 | Oct 5, 2017 |
| ZIC1 | 1 | Oct 5, 2017 |
| ZIC3 | 1 | Oct 5, 2017 |
| ZMYND15 | 1 | Oct 5, 2017 |
| ZNF335 | 7 | Oct 5, 2017 |
| ZNF41 | 1 | Oct 5, 2017 |
| ZNF423 | 1 | Feb 17, 2017 |
| ZNF469 | 8 | Feb 17, 2017 |
| ZNF644 | 1 | Feb 17, 2017 |
| ZNF668 | 1 | Jun 22, 2018 |
| ZNF81 | 2 | Feb 17, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Attention deficit hyperactivity disorder | 1 | Apr 30, 2024 |
| Autism | 1 | Apr 30, 2024 |
| Cognitive impairment | 1 | Feb 26, 2020 |
| Delayed gross motor development | 1 | Oct 19, 2021 |
| Delayed skeletal maturation | 1 | Oct 19, 2021 |
| Epicanthus | 1 | Apr 30, 2024 |
| Failure to thrive in infancy | 1 | Apr 30, 2024 |
| Familial hemophagocytic lymphohistiocytosis 2 | 1 | Jan 31, 2025 |
| Fetal growth restriction | 1 | Apr 30, 2024 |
| Generalized muscle weakness | 1 | Oct 19, 2021 |
| Global developmental delay | 2 | Oct 19, 2021 |
| Hermansky-Pudlak syndrome 1 | 2 | Jun 3, 2021 |
| High forehead | 1 | Apr 30, 2024 |
| Intellectual disability | 4 | Oct 19, 2021 |
| Intellectual disability, X-linked 101 | 1 | Mar 11, 2020 |
| Lissencephaly | 1 | Oct 19, 2021 |
| Macrocephaly-developmental delay syndrome | 1 | Apr 27, 2020 |
| Macrocytic anemia | 1 | Apr 30, 2024 |
| Pancytopenia | 1 | Apr 30, 2024 |
| Peripheral axonal neuropathy | 1 | Oct 19, 2021 |
| Small for gestational age | 1 | Apr 30, 2024 |
| Spondyloepiphyseal dysplasia congenita | 2 | Oct 19, 2021 |
| Transposition of the great arteries | 1 | Oct 19, 2021 |
| Triangular face | 1 | Apr 30, 2024 |
| not provided | 3954 | Jun 22, 2018 |