Lupski Lab, Baylor-Hopkins CMG (Baylor College of Medicine), BHCMG
General information
Lupski Lab, Baylor-Hopkins CMG, BHCMG
Baylor College of Medicine
Houston
Texas
United States - 77030
http://www.mendelian.org/
Organization ID: 505572
Baylor College of Medicine
Houston
Texas
United States - 77030
http://www.mendelian.org/
Organization ID: 505572
Personnel
- Jennifer Posey, Contact
Phone: 7137986531
Email: Jennifer.Posey@bcm.edu - Daniel Calame, Contact
Phone: 713-798-3723
Email: daniel.calame@bcm.edu
Assertion criteria
Level: Assertion criteria provided
- ACMG Guidelines, 2015
- ACMG/ClinGen CNV Guidelines, 2019
- Abe et al. (J Hum Genet. 2011)
- Bayer et al. (Clin Exp Immunol 2014)
- Bayram et al. (AJMG A 2014)
- Bayram et al. (AJMG A 2015)
- Bayram et al. (Am J Hum Genet. 2017)
- Bayram et al. (JCEM 2015)
- Beck et al. (Am J Med Genet A 2015)
- Beckers et al. (Endocr Relat Cancer. 2015)
- Bekheirnia et al. (Genet Med. 2016)
- Boone et al. (AJHG 2014)
- Boone et al. (Mol Genet Genomic Med. 2015)
- Bosch et al. (AJHG 2014)
- Bosch et al. (EJHG 2015)
- Calame DG et al. (Ann Clin Transl Neurol 2021)
- Campbell et al. 2014 (Am J Hum Genet. 2014)
- Campeau et al. (Lancet Neurol 2014)
- Carvalho et al. (AJHG 2014)
- Carvalho et al. (BMC Med Genet 2014)
- Cheung et al. (AJHG 2013)
- Choi et al. (Hum Mutat. 2011 )
- Collison et al. (Opthalmic Genet. 2015)
- Daly et al. (Endocr Relat Cancer 2016)
- Eldomery et al. (Genome Med. 2017)
- Farlow et al. (JAMA Neurol 2016)
- Fiskerstrand et al. (Am J Hum Genet. 2010)
- Gonzaga et al. (EJHG 2014)
- Gonzaga-Jauregui et al (J Pediatr Gastroenterol Nutr. 2014)
- Gonzaga-Jauregui et al. (Cell Rep. 2015)
- Gonzaga-Jauregui et al. (JAMA Neurol 2013)
- Harel et al. (Am J Hum Genet 2016)
- Harel et al. (Am J Hum Genet. 2016)
- Hjeij et al. (Am J Hum Genet. 2013)
- Ishiura et al. (Am J Hum Genet. 2012)
- Jehee et al. (Am J Med Genet A. 2017)
- Jolly et al. (J Clin Endocrinol Metab. 2019)
- Karaca et al. (2015)
- Karaca et al. (Cell 2014)
- Karaca et al. (JCEM 2015)
- Karaca et al. (Neuron 2015)
- Kijima et al. (Hum Genet. 2005)
- Latour et al. (Am J Hum Genet. 2010)
- Lee et al. (Hum Genet 2016)
- Lee et al. (npjSCHZ 2015)
- Liang et al (Eur J Oral Sci 2012)
- Loviglio et al (Genome Med 2016)
- Lupski et al. (Genome Med. 2013)
- Milner et al. (Blood 2015)
- Murali et al. (Mol Genet Metab Rep. 2014)
- Nageshappa et al. (Mol Psychiatry. 2016)
- Naves et al. (Endocrine 2016)
- Okamoto et al. (Genet Med 2014)
- Pehlivan et al. (Genet Med. 2016)
- Pehlivan_EJHG_2014_TMCO1
- Pitt et al. (Brain 2003)
- Polfus LM Cold Spring Harb Mol Case Stud. 2016
- Prada et al. (Eur J Med Genet. 2014)
- Punetha et al. (Mol Genet Metab. 2018)
- Rainger et al. (Am J Hum Genet. 2014)
- Ramasamy et al. (Fertil Steril. 2015)
- Rho et al. (Hum Mutat. 1996)
- Riveiro-Álvarez et al. (JAMA Ophthalmol. 2015)
- Sim et al. (Orphanet J Rare Dis. 2014)
- Stray-Pedersen et al. (AJHG 2014)
- Stray-Pedersen et al. (Am J Hum Genet 2016)
- Stray-Pedersen et al. (J Clin Immunol 2014)
- Submitter's publication
- Submitter's publication
- Vatta et al. (AJMG 2013)
- Wangler et al. PLoS Gen 2014
- Watkin et al. (Nat Genet 2015)
- White et al. (AJHG 2015)
- White et al. (AJHG 2016)
- White et al. (Am J Hum Genet. 2018)
- Wiszniewski et al. (Am J Hum Genet. 2013)
- Wiszniewski et al. (Eur J Hum Genet. 2018)
- Wu et al. (N Engl J Med. 2015)
- Xia et al. (Am J Hum Genet. 2014)
- Xie et al. (Hum Mol Genet. 2014)
- Yamamoto et al. (Cell 2014)
- Yu et al. (Circ Cardiovasc Genet. 2015)
- Zhu et al. (Nat Genet. 1998)
- Zuchner et al. (Nat Genet. 2004)
- de Kock et al. (Acta Neuropathol. 2014)
- de Liqt et al (N Engl J Med 2012)
Summary of submissions to ClinVar
Total submissions: 1059
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AAR2 | 1 | Jun 20, 2016 |
| AARS1 | 1 | Nov 5, 2015 |
| ABCA4 | 5 | Jan 26, 2017 |
| ABCA7 | 3 | Jun 17, 2019 |
| ABCC9 | 2 | Aug 26, 2017 |
| ABHD12 | 1 | Nov 5, 2015 |
| ACO2 | 1 | Jun 20, 2016 |
| ACOT1 | 1 | Jan 26, 2017 |
| ACP6 | 1 | Nov 15, 2015 |
| ACTC1 | 2 | Aug 26, 2017 |
| ACTG2 | 10 | Nov 4, 2015 |
| ACTL6A | 1 | Jul 20, 2018 |
| ACTL6B | 1 | Mar 29, 2017 |
| ACTN2 | 1 | Aug 26, 2017 |
| ACVR2B | 2 | Jun 1, 2018 |
| ADCY6 | 1 | Nov 5, 2015 |
| ADGRG6 | 1 | Jun 17, 2019 |
| ADNP | 1 | Jun 17, 2019 |
| AGBL2 | 1 | Mar 29, 2017 |
| AHDC1 | 4 | Nov 15, 2015 |
| AIFM1 | 1 | Nov 5, 2015 |
| AIMP1 | 1 | Nov 5, 2015 |
| AKAP9 | 2 | Aug 26, 2017 |
| AKT3 | 1 | Nov 15, 2015 |
| ALDH7A1 | 1 | Mar 29, 2017 |
| ALG12 | 2 | Nov 15, 2015 |
| AMOT | 1 | Nov 15, 2015 |
| ANK2 | 3 | Aug 26, 2017 |
| ANK3 | 1 | Mar 29, 2017 |
| ANKLE2 | 2 | Nov 4, 2015 |
| ANKRD11 | 2 | Oct 13, 2020 |
| ANKRD37 | 1 | Nov 15, 2015 |
| ANOS1 | 2 | Jan 11, 2016 |
| ANTXR1 | 3 | Nov 15, 2015 |
| AP4B1 | 2 | Mar 29, 2017 |
| AP4B1-AS1 | 2 | Mar 29, 2017 |
| AP4M1 | 1 | Jun 17, 2019 |
| ARFGEF1 | 1 | Jan 25, 2021 |
| ARHGAP21 | 1 | Mar 29, 2017 |
| ARHGEF10L | 1 | Nov 15, 2015 |
| ARID1B | 5 | Nov 15, 2015 |
| ARMCX5-GPRASP2 | 1 | Jul 24, 2019 |
| ARSA | 1 | Jun 20, 2016 |
| ASH2L | 1 | Mar 29, 2017 |
| ASIC4-AS1 | 2 | Jun 17, 2019 |
| ASPM | 5 | Sep 1, 2017 |
| ASTN1 | 3 | Sep 1, 2017 |
| ASXL3 | 1 | Mar 29, 2017 |
| ATAD3A | 5 | Jan 26, 2017 |
| ATP2B3 | 1 | Jun 20, 2016 |
| ATP6V1A | 1 | Nov 15, 2015 |
| ATRIP | 1 | Jun 17, 2019 |
| ATRIP-TREX1 | 1 | Jun 17, 2019 |
| ATRX | 2 | Mar 29, 2017 |
| BCOR | 1 | Mar 29, 2017 |
| BICD2 | 1 | Jun 17, 2019 |
| BMP7 | 3 | Jan 11, 2016 |
| BORCS5 | 1 | Jun 20, 2016 |
| BRWD3 | 1 | Jun 17, 2019 |
| C12orf57 | 1 | Jun 20, 2016 |
| C12orf60 | 1 | Jan 26, 2017 |
| C19orf12 | 1 | Mar 29, 2017 |
| C3 | 1 | Jun 11, 2019 |
| CACNA1A | 1 | Jan 26, 2017 |
| CACNA1C | 2 | Aug 26, 2017 |
| CACNA1E | 1 | Aug 26, 2017 |
| CACNA1H | 2 | Mar 29, 2017 |
| CACNA2D2 | 1 | Jun 17, 2019 |
| CACUL1 | 1 | Jun 17, 2019 |
| CASK | 1 | Sep 6, 2016 |
| CC2D1A | 2 | Sep 6, 2016 |
| CDC5L | 1 | Jan 11, 2016 |
| CDH4 | 3 | Sep 1, 2017 |
| CDK10 | 2 | Mar 29, 2017 |
| CDK20 | 2 | Jan 26, 2017 |
| CDON | 1 | Mar 29, 2017 |
| CELSR2 | 1 | Mar 29, 2017 |
| CENPJ | 1 | Jun 17, 2019 |
| CEP85L | 1 | Sep 1, 2017 |
| CEP97 | 1 | Mar 29, 2017 |
| CHD1L | 3 | Jan 11, 2016 |
| CHD7 | 2 | Jun 11, 2019 |
| CHRNG | 4 | Jun 17, 2019 |
| CINP | 1 | Mar 29, 2017 |
| CIT | 1 | Jun 17, 2019 |
| CLN6 | 1 | Mar 29, 2017 |
| CLP1 | 1 | Nov 4, 2015 |
| CNTNAP2 | 1 | Nov 15, 2015 |
| COG6 | 1 | Jun 17, 2019 |
| COL12A1 | 1 | Jun 17, 2019 |
| COL27A1 | 2 | Mar 22, 2020 |
| COL6A2 | 1 | Jun 17, 2019 |
| COL6A3 | 3 | Jun 17, 2019 |
| COPA | 4 | Nov 4, 2015 |
| CORO1A | 1 | Nov 5, 2015 |
| CPLANE1 | 1 | Nov 15, 2015 |
| CPLX1 | 1 | Mar 29, 2017 |
| CRLF1 | 1 | Jun 17, 2019 |
| CRX | 3 | Nov 4, 2015 |
| CSPP1 | 2 | Sep 1, 2017 |
| CTSA | 2 | Nov 15, 2015 |
| DARS1 | 1 | Mar 29, 2017 |
| DCAF6 | 1 | Nov 15, 2015 |
| DCX | 1 | Sep 1, 2017 |
| DDX3X | 3 | Jan 26, 2017 |
| DDX54 | 5 | Jun 11, 2019 |
| DES | 1 | Nov 15, 2015 |
| DHCR7 | 1 | Mar 29, 2017 |
| DHX16 | 4 | Jun 11, 2019 |
| DHX30 | 3 | Mar 29, 2017 |
| DHX34 | 3 | Jun 11, 2019 |
| DHX37 | 9 | Jun 11, 2019 |
| DHX58 | 1 | Oct 13, 2020 |
| DICER1 | 6 | Nov 15, 2015 |
| DLG4 | 1 | Nov 15, 2015 |
| DNAH5 | 1 | Jun 1, 2018 |
| DNAH7 | 1 | Jan 26, 2017 |
| DNAI1 | 1 | Jun 1, 2018 |
| DNAJB2 | 2 | Nov 5, 2015 |
| DNAJB5 | 1 | Nov 5, 2015 |
| DNM2 | 2 | Nov 4, 2015 |
| DPP6 | 2 | Aug 26, 2017 |
| DRG1 | 1 | Jun 17, 2019 |
| DSCAML1 | 1 | Mar 29, 2017 |
| DSP | 2 | Aug 26, 2017 |
| DSTYK | 6 | Jan 11, 2016 |
| DVL1 | 15 | Sep 30, 2020 |
| DVL3 | 8 | Sep 30, 2020 |
| DYNC1H1 | 1 | Sep 1, 2017 |
| EBF3 | 1 | Jan 26, 2017 |
| ECEL1 | 7 | Jun 17, 2019 |
| EIF4A2 | 1 | Oct 25, 2022 |
| ELF4 | 1 | Nov 10, 2022 |
| EMC1 | 6 | Jan 26, 2017 |
| EMC1-AS1 | 5 | Jan 26, 2017 |
| EMD | 1 | Dec 30, 2021 |
| EP300 | 1 | Sep 1, 2017 |
| EPB41L1 | 1 | Mar 29, 2017 |
| ERGIC1 | 1 | Jun 17, 2019 |
| ERGIC3 | 1 | Oct 13, 2020 |
| EYA1 | 2 | Jan 11, 2016 |
| FAM222A | 1 | Mar 29, 2017 |
| FAM222A-AS1 | 1 | Mar 29, 2017 |
| FARS2 | 1 | Jun 20, 2016 |
| FAT1 | 1 | Jun 17, 2019 |
| FBN1 | 1 | Nov 15, 2015 |
| FBN2 | 1 | Jun 17, 2019 |
| FBN3 | 2 | Jun 17, 2019 |
| FBXL4 | 1 | Jan 26, 2017 |
| FGD1 | 4 | Sep 30, 2020 |
| FGFRL1 | 1 | Jun 17, 2019 |
| FHL1 | 1 | Jun 17, 2019 |
| FKBP10 | 1 | Jun 17, 2019 |
| FLII | 1 | Jun 17, 2019 |
| FLNA | 2 | Sep 1, 2017 |
| FLNC | 2 | Aug 26, 2017 |
| FLNC-AS1 | 1 | Aug 26, 2017 |
| FNIP1 | 2 | Aug 26, 2017 |
| FOXP4 | 1 | Jun 20, 2016 |
| FREM1 | 1 | Nov 15, 2015 |
| FZD2 | 7 | Sep 30, 2020 |
| GABRB2 | 1 | Nov 15, 2015 |
| GALC | 2 | Mar 29, 2017 |
| GALT | 1 | Jun 11, 2019 |
| GBE1 | 2 | Jun 17, 2019 |
| GJA5 | 1 | Aug 26, 2017 |
| GJB1 | 1 | Nov 5, 2015 |
| GJD2-DT | 2 | Aug 26, 2017 |
| GLDC | 3 | Mar 29, 2017 |
| GLI3 | 1 | Jul 12, 2022 |
| GNB5 | 2 | Jan 26, 2017 |
| GPC4 | 1 | Jun 16, 2017 |
| GPD1L | 1 | Aug 26, 2017 |
| GPHN | 2 | Nov 15, 2015 |
| GPIHBP1 | 2 | Nov 15, 2015 |
| GPR101 | 2 | Mar 23, 2016 |
| GPR161 | 1 | Nov 4, 2015 |
| GREB1L | 17 | Mar 13, 2023 |
| GRID2 | 1 | Jun 20, 2016 |
| GRIN1 | 1 | Nov 15, 2015 |
| GRIN2A | 1 | Oct 13, 2020 |
| GRIN2B | 1 | Nov 15, 2015 |
| GRIP1 | 2 | Mar 29, 2017 |
| GRM7 | 3 | Jun 20, 2016 |
| GSPT2 | 1 | Jan 26, 2017 |
| GTF3C1 | 1 | Mar 29, 2017 |
| GUCY2C | 1 | Jan 26, 2017 |
| GUCY2C-AS1 | 1 | Jan 26, 2017 |
| HADH | 1 | Mar 29, 2017 |
| HAL | 3 | Nov 15, 2015 |
| HDAC8 | 1 | Dec 5, 2014 |
| HEATR4 | 1 | Jan 26, 2017 |
| HELZ | 1 | Mar 29, 2017 |
| HERC2 | 1 | Jun 20, 2016 |
| HEXB | 1 | Jun 20, 2016 |
| HIBCH | 1 | Jun 20, 2016 |
| HIVEP1 | 1 | Jan 26, 2017 |
| HKDC1 | 1 | Apr 27, 2016 |
| HNF1B | 1 | Jan 11, 2016 |
| HOXA11 | 1 | Jun 17, 2019 |
| HOXD13 | 1 | Jul 12, 2022 |
| HSD17B4 | 1 | Jun 17, 2019 |
| HYDIN | 2 | Jun 1, 2018 |
| IDS | 1 | Jun 17, 2019 |
| IGF1 | 1 | Jun 17, 2019 |
| IGFBP4 | 1 | Mar 29, 2017 |
| IGHMBP2 | 4 | Nov 5, 2015 |
| IGSF10 | 4 | Jun 11, 2019 |
| IL17B | 1 | Apr 27, 2016 |
| IL7R | 2 | Nov 5, 2015 |
| INA | 1 | Mar 29, 2017 |
| INPPL1 | 1 | Jul 30, 2018 |
| IQSEC2 | 1 | Mar 29, 2017 |
| ISL1 | 1 | Jun 1, 2018 |
| ITGA7 | 1 | Mar 29, 2017 |
| ITPR1 | 1 | Nov 5, 2015 |
| JAKMIP1 | 1 | Sep 6, 2016 |
| JUP | 3 | Aug 26, 2017 |
| KANK1 | 1 | Mar 29, 2017 |
| KAT14 | 1 | Mar 29, 2017 |
| KCND3 | 1 | Jan 26, 2017 |
| KCNH2 | 2 | Aug 26, 2017 |
| KCNJ2 | 1 | Aug 26, 2017 |
| KCNQ1 | 3 | Aug 26, 2017 |
| KCNQ3 | 1 | Nov 15, 2015 |
| KCTD19 | 1 | Nov 15, 2015 |
| KDM2B | 1 | Jun 20, 2016 |
| KDM5C | 1 | Sep 6, 2016 |
| KIF1A | 1 | Sep 18, 2020 |
| KIF23 | 1 | Mar 29, 2017 |
| KIF24 | 1 | Nov 15, 2015 |
| KIF5B | 1 | Jun 20, 2016 |
| KLHL15 | 1 | Mar 29, 2017 |
| KLHL7 | 4 | Jun 17, 2019 |
| KMT2A | 1 | Dec 5, 2014 |
| KMT2D | 1 | Sep 6, 2016 |
| L1CAM | 1 | Sep 1, 2017 |
| LAMA2 | 2 | Sep 1, 2017 |
| LAMA4 | 2 | Aug 26, 2017 |
| LAMA5 | 2 | Sep 1, 2017 |
| LAMC1 | 1 | Aug 26, 2017 |
| LARP7 | 1 | Mar 29, 2017 |
| LEMD2 | 1 | Nov 15, 2015 |
| LGI3 | 9 | Aug 4, 2022 |
| LIFR | 2 | Jun 17, 2019 |
| LINC00630 | 1 | Jul 24, 2019 |
| LINC02456 | 1 | Jun 17, 2019 |
| LINGO4 | 2 | Sep 1, 2017 |
| LMNA | 2 | Jun 17, 2019 |
| LOC101927521 | 3 | Mar 13, 2023 |
| LOC105370589 | 1 | Jan 26, 2017 |
| LOC106050102 | 1 | Jun 17, 2019 |
| LOC106780803 | 1 | Jan 11, 2016 |
| LOC107126281 | 1 | Jun 17, 2019 |
| LOC108281134 | 1 | Mar 29, 2017 |
| LOC126806067 | 1 | Aug 26, 2017 |
| LOC126806490 | 1 | Mar 27, 2016 |
| LOC126806590 | 1 | Nov 5, 2015 |
| LOC126859565 | 1 | Jun 20, 2016 |
| LOC126859647 | 1 | Nov 15, 2015 |
| LOC126860075 | 1 | Jun 17, 2019 |
| LOC126860282 | 1 | Jun 17, 2019 |
| LOC126860792 | 1 | Jan 26, 2017 |
| LOC126861106 | 2 | Sep 8, 2019 |
| LOC126861245 | 1 | Nov 5, 2015 |
| LOC126861898 | 1 | Aug 26, 2017 |
| LOC129929114 | 3 | Jun 16, 2017 |
| LOC129994769 | 1 | Apr 27, 2016 |
| LOC129996186 | 1 | Nov 15, 2015 |
| LOC130003010 | 1 | Jan 26, 2017 |
| LRBA | 4 | Nov 15, 2015 |
| LRP6 | 14 | Mar 24, 2016 |
| MAB21L2 | 4 | Nov 15, 2015 |
| MACF1 | 2 | Sep 1, 2017 |
| MAGED2 | 1 | Jun 20, 2016 |
| MAP2K2 | 1 | Sep 6, 2016 |
| MCM8 | 3 | Jun 11, 2019 |
| MCM9 | 3 | Jun 11, 2019 |
| MCPH1 | 1 | Mar 29, 2017 |
| MECP2 | 3 | Sep 6, 2016 |
| MED27 | 1 | Jun 17, 2019 |
| MEF2C | 1 | Sep 1, 2017 |
| MET | 1 | Nov 15, 2015 |
| MFN2 | 8 | Jun 17, 2019 |
| MHRT | 1 | Aug 26, 2017 |
| MICALL2 | 1 | Jan 26, 2017 |
| MID1IP1 | 1 | Jun 17, 2019 |
| MIPEP | 2 | Jan 26, 2017 |
| MIR302CHG | 1 | Mar 29, 2017 |
| MLC1 | 1 | Jun 20, 2016 |
| MLLT1 | 1 | Jun 20, 2016 |
| MLX | 1 | Jun 11, 2019 |
| MMACHC | 1 | Nov 4, 2015 |
| MMP21 | 2 | Jun 1, 2018 |
| MND1 | 1 | Jun 11, 2019 |
| MPP4 | 1 | Jan 26, 2017 |
| MPZ | 3 | Nov 15, 2015 |
| MRPS22 | 2 | Jun 11, 2019 |
| MTO1 | 2 | Mar 29, 2017 |
| MTRFR | 1 | Mar 29, 2017 |
| MUC21 | 1 | Nov 15, 2015 |
| MXRA8 | 1 | Mar 29, 2017 |
| MYBPC1 | 1 | Jun 17, 2019 |
| MYBPC2 | 4 | Jun 17, 2019 |
| MYBPC3 | 3 | Aug 26, 2017 |
| MYH11 | 1 | Aug 26, 2017 |
| MYH14 | 3 | Jun 17, 2019 |
| MYH3 | 1 | Jun 17, 2019 |
| MYH6 | 2 | Aug 26, 2017 |
| MYH7 | 4 | Aug 26, 2017 |
| MYH7B | 1 | Jun 17, 2019 |
| MYO18B | 3 | Jun 17, 2019 |
| MYO5A | 1 | Jun 20, 2016 |
| MYO9A | 2 | Jun 17, 2019 |
| MYOM2 | 2 | Jun 17, 2019 |
| MYOM3 | 2 | Jun 17, 2019 |
| NAA10 | 1 | Jan 26, 2017 |
| NALCN | 2 | Jan 26, 2017 |
| NDE1 | 1 | Aug 26, 2017 |
| NDRG1 | 1 | Nov 4, 2015 |
| NEB | 2 | Jun 17, 2019 |
| NEBL | 1 | Aug 26, 2017 |
| NEXMIF | 1 | Oct 13, 2020 |
| NGLY1 | 2 | Mar 29, 2017 |
| NHLH1 | 4 | Nov 4, 2015 |
| NIPBL | 10 | Dec 5, 2014 |
| NOBOX | 1 | Jun 11, 2019 |
| NODAL | 4 | Jun 1, 2018 |
| NPAS2 | 1 | Nov 15, 2015 |
| NPAS2-AS1 | 1 | Nov 15, 2015 |
| NPR2 | 4 | Jul 12, 2022 |
| NR2C1 | 1 | Jun 17, 2019 |
| NR2F1 | 9 | Jan 26, 2017 |
| NR2F1-AS1 | 6 | Jan 26, 2017 |
| NRXN3 | 2 | Jan 26, 2017 |
| NSD1 | 1 | Nov 5, 2015 |
| NSRP1 | 3 | Mar 17, 2021 |
| NTNG2 | 7 | Sep 21, 2019 |
| NXN | 3 | Sep 8, 2020 |
| ODAD2 | 9 | Nov 15, 2015 |
| OGDHL | 1 | Mar 29, 2017 |
| OPA1 | 1 | Mar 29, 2017 |
| PADI6 | 1 | Jun 11, 2019 |
| PAX2 | 2 | Jan 11, 2016 |
| PAX3 | 1 | Nov 15, 2015 |
| PCYOX1L | 1 | Apr 27, 2016 |
| PDGFRB | 2 | Nov 4, 2015 |
| PGAP1 | 2 | Nov 15, 2015 |
| PGM3 | 5 | Nov 15, 2015 |
| PHF6 | 1 | Jun 20, 2016 |
| PI4KA | 2 | Jun 17, 2019 |
| PIEZO2 | 1 | Jun 17, 2019 |
| PIGN | 1 | Mar 29, 2017 |
| PIK3CD | 1 | Jan 26, 2017 |
| PITX2 | 1 | Aug 26, 2017 |
| PLA2G6 | 2 | Mar 29, 2017 |
| PLCB1 | 1 | Mar 29, 2017 |
| PLEC | 2 | Jun 17, 2019 |
| PLEKHG2 | 1 | Mar 29, 2017 |
| PLP1 | 2 | Jul 24, 2019 |
| PLS3 | 2 | Aug 11, 2021 |
| PLXNA1 | 12 | May 18, 2021 |
| PMP2 | 2 | Jun 14, 2019 |
| PMPCA | 2 | Jan 26, 2017 |
| PNPLA7 | 1 | Jun 11, 2019 |
| POGZ | 6 | Sep 6, 2016 |
| POLR1C | 3 | Jan 26, 2017 |
| POLR3A | 1 | Jun 17, 2019 |
| POLR3H | 1 | Jun 20, 2016 |
| POMGNT1 | 2 | Jun 17, 2019 |
| POMT2 | 1 | Mar 29, 2017 |
| POR | 1 | Jun 17, 2019 |
| PORCN | 1 | Jun 20, 2016 |
| PPP1CB | 1 | Sep 30, 2020 |
| PPP1R35 | 1 | Sep 7, 2022 |
| PQBP1 | 1 | Jun 17, 2019 |
| PRDM16 | 4 | Aug 26, 2017 |
| PRDM2 | 1 | Jun 17, 2019 |
| PRICKLE1 | 1 | Nov 15, 2015 |
| PRKAG2 | 1 | Aug 26, 2017 |
| PRKD1 | 1 | Jun 11, 2019 |
| PROB1 | 1 | Apr 27, 2016 |
| PRUNE1 | 4 | Mar 29, 2017 |
| PSD3 | 1 | Jun 17, 2019 |
| PSMC3IP | 1 | Jun 11, 2019 |
| PTCHD1 | 1 | Mar 29, 2017 |
| PTEN | 1 | Sep 1, 2017 |
| PTPN11 | 1 | Jun 16, 2017 |
| PTPRT | 2 | Mar 29, 2017 |
| PWWP2A | 1 | Mar 29, 2017 |
| RAB28 | 2 | Nov 15, 2015 |
| RAB33A | 1 | Nov 5, 2015 |
| RAB9B | 2 | Jul 24, 2019 |
| RAC3 | 1 | Jun 16, 2017 |
| RAI1 | 1 | Nov 15, 2015 |
| RAI2 | 1 | Jun 1, 2018 |
| RARS2 | 1 | Mar 29, 2017 |
| RBM20 | 1 | Aug 26, 2017 |
| RDH11 | 2 | Nov 15, 2015 |
| RELN | 2 | Sep 1, 2017 |
| RERE | 1 | Nov 15, 2015 |
| REST | 3 | Jun 8, 2017 |
| RET | 1 | Jan 11, 2016 |
| RHBDF1 | 5 | Aug 26, 2017 |
| RIF1 | 1 | Jun 17, 2019 |
| RIPK4 | 1 | Jun 17, 2019 |
| RIPPLY2 | 1 | Nov 4, 2015 |
| RIPPLY2-CYB5R4 | 1 | Nov 4, 2015 |
| RNASEH2B | 1 | Jun 20, 2016 |
| ROBO1 | 1 | Feb 25, 2022 |
| ROBO2 | 3 | Jan 11, 2016 |
| ROCK2 | 1 | Jun 1, 2018 |
| ROR2 | 25 | Oct 1, 2020 |
| ROS1 | 1 | Mar 29, 2017 |
| RPS6KC1 | 2 | Jun 20, 2016 |
| RSRC2 | 1 | Jun 20, 2016 |
| RUBCN | 2 | Jun 20, 2016 |
| RYR2 | 7 | Aug 26, 2017 |
| RYR3 | 4 | Jun 17, 2019 |
| SACS | 2 | Mar 29, 2017 |
| SALL1 | 2 | Jan 11, 2016 |
| SARS2 | 1 | Jun 20, 2016 |
| SBDS | 1 | Nov 15, 2015 |
| SCN1B | 1 | Jan 26, 2017 |
| SCN5A | 2 | Aug 26, 2017 |
| SCNN1B | 1 | Jun 23, 2016 |
| SDHC | 1 | Nov 15, 2015 |
| SETX | 1 | Nov 5, 2015 |
| SH3PXD2B | 1 | Jul 30, 2018 |
| SH3TC2 | 2 | Nov 5, 2015 |
| SIX2 | 1 | Jan 11, 2016 |
| SIX5 | 1 | Jan 11, 2016 |
| SKP1 | 1 | Apr 27, 2016 |
| SLC13A5 | 4 | Jan 26, 2017 |
| SLC18A2 | 1 | Mar 29, 2017 |
| SLC1A1 | 1 | Nov 15, 2015 |
| SLC1A4 | 1 | Jan 26, 2017 |
| SLC25A16 | 1 | Nov 15, 2015 |
| SLC26A2 | 1 | Jun 17, 2019 |
| SLC26A4 | 1 | Aug 26, 2017 |
| SLC26A4-AS1 | 1 | Aug 26, 2017 |
| SLC30A7 | 1 | Jan 26, 2017 |
| SLC35A2 | 1 | Nov 15, 2015 |
| SLITRK5 | 1 | Mar 29, 2017 |
| SMAD2 | 1 | Jun 1, 2018 |
| SMARCA1 | 1 | Mar 29, 2017 |
| SMC1A | 3 | Dec 5, 2014 |
| SMC3 | 1 | Dec 5, 2014 |
| SNAPIN | 1 | Mar 29, 2017 |
| SNTA1 | 1 | Aug 26, 2017 |
| SNX14 | 1 | Mar 29, 2017 |
| SOHLH1 | 2 | Nov 4, 2015 |
| SOX3 | 1 | Mar 29, 2017 |
| SOX5 | 1 | Nov 15, 2015 |
| SPAG8 | 1 | Jul 12, 2022 |
| SPAST | 25 | Nov 15, 2015 |
| SPATA24 | 1 | Apr 27, 2016 |
| SPATA6L | 1 | Nov 15, 2015 |
| SPEG | 2 | Jun 17, 2019 |
| SPG11 | 1 | Mar 29, 2017 |
| SPTAN1 | 1 | Mar 29, 2017 |
| SPTBN4 | 1 | Jun 17, 2019 |
| SPTLC3 | 1 | Nov 5, 2015 |
| SRD5A3 | 1 | Apr 13, 2016 |
| STAT3 | 9 | Nov 15, 2015 |
| STIL | 2 | Mar 29, 2017 |
| SUPT16H | 1 | Jun 1, 2018 |
| SURF1 | 2 | Nov 5, 2015 |
| SVIL | 1 | Mar 29, 2017 |
| SYN3 | 1 | Jan 26, 2017 |
| SYNE1 | 4 | Jun 17, 2019 |
| SYT2 | 1 | Jun 17, 2019 |
| SYTL2 | 1 | Apr 23, 2020 |
| TAF6 | 2 | Dec 5, 2014 |
| TAF9B | 1 | Jun 17, 2019 |
| TANC1 | 1 | Jun 17, 2019 |
| TBC1D24 | 8 | Nov 15, 2015 |
| TBX5 | 1 | Aug 26, 2017 |
| TBX6 | 6 | Nov 15, 2015 |
| TCAP | 1 | Aug 26, 2017 |
| TCEAL1 | 8 | Aug 7, 2022 |
| TCF4 | 1 | Feb 1, 2017 |
| TFG | 1 | Nov 5, 2015 |
| TG | 1 | Jun 11, 2019 |
| TGFB3 | 1 | Jun 17, 2019 |
| TGFBR2 | 1 | Aug 26, 2017 |
| TLR7 | 1 | Dec 30, 2021 |
| TM4SF20 | 1 | Nov 15, 2015 |
| TMCO1 | 1 | Nov 4, 2015 |
| TMEM214 | 1 | Jun 17, 2019 |
| TMEM47 | 1 | Jun 20, 2016 |
| TNK2 | 4 | Mar 23, 2016 |
| TNNT2 | 1 | Aug 26, 2017 |
| TNNT3 | 1 | Jun 17, 2019 |
| TNR | 5 | Mar 23, 2016 |
| TNRC6C | 1 | Jun 17, 2019 |
| TNXB | 2 | Jan 11, 2016 |
| TOR1A | 1 | Jun 17, 2019 |
| TPM2 | 2 | Jun 17, 2019 |
| TRAPPC11 | 1 | Jan 26, 2017 |
| TRAPPC4 | 1 | May 20, 2020 |
| TREX1 | 1 | Jun 17, 2019 |
| TRIM2 | 1 | Nov 5, 2015 |
| TRPM4 | 1 | Aug 26, 2017 |
| TRPV4 | 1 | Jun 17, 2019 |
| TSC1 | 1 | Sep 1, 2017 |
| TSPAN1 | 2 | Jun 17, 2019 |
| TTC1 | 1 | Mar 29, 2017 |
| TTC39A | 2 | Aug 26, 2017 |
| TTI1 | 1 | Mar 29, 2017 |
| TTN | 4 | Jun 17, 2019 |
| TTN-AS1 | 3 | Jun 17, 2019 |
| TUBA1A | 1 | Sep 1, 2017 |
| TUBB | 1 | Sep 1, 2017 |
| TUBB3 | 1 | Sep 1, 2017 |
| TUBGCP2 | 4 | Sep 8, 2019 |
| TUT1 | 1 | Mar 29, 2017 |
| UBQLN1 | 1 | Mar 29, 2017 |
| UFSP2 | 1 | Nov 15, 2015 |
| UHMK1 | 1 | Nov 15, 2015 |
| ULK2 | 1 | Mar 29, 2017 |
| UNC80 | 4 | Mar 27, 2016 |
| UPK3A | 1 | Jan 11, 2016 |
| USP11 | 1 | Mar 29, 2017 |
| USP19 | 2 | Jan 26, 2017 |
| VARS1 | 2 | Mar 29, 2017 |
| VCL | 3 | Aug 26, 2017 |
| VPS13B | 5 | Sep 1, 2017 |
| VPS8 | 1 | Jun 17, 2019 |
| VRK1 | 3 | Nov 4, 2015 |
| WNT10B | 1 | Jul 12, 2022 |
| WNT5A | 5 | Sep 30, 2020 |
| WWP1 | 1 | Aug 26, 2017 |
| YARS1 | 1 | Nov 5, 2015 |
| ZBTB20 | 1 | Jan 26, 2017 |
| ZEB2 | 2 | Mar 29, 2017 |
| ZFP30 | 1 | Nov 15, 2015 |
| ZFYVE16 | 2 | Jun 1, 2018 |
| ZIC3 | 6 | Jun 1, 2018 |
| ZNF335 | 2 | Jan 26, 2017 |
| ZNF423 | 2 | Mar 29, 2017 |