Kariminejad - Najmabadi Pathology & Genetics Center
General information
Kariminejad - Najmabadi Pathology & Genetics Center
#2, Fourth St, Hassan Seyf Ave. Sanat Sq. Shahrak Gharb
Tehran
Iran - 14667-13713
http://www.irangenepath.com
Organization ID: 506221
#2, Fourth St, Hassan Seyf Ave. Sanat Sq. Shahrak Gharb
Tehran
Iran - 14667-13713
http://www.irangenepath.com
Organization ID: 506221
Personnel
- Hossein Najmabadi, Lab Director
Phone: +982188363955
Email: hnajm12@yahoo.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1411
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AAAS | 1 | Sep 9, 2021 |
| AARS1 | 3 | Apr 26, 2025 |
| ABCA12 | 1 | Sep 9, 2021 |
| ABCA4 | 3 | Sep 9, 2021 |
| ABCD1 | 1 | Sep 9, 2021 |
| ACADVL | 6 | Apr 26, 2025 |
| ACE | 1 | Sep 9, 2021 |
| ACTA1 | 2 | Apr 26, 2025 |
| ADA | 1 | Sep 9, 2021 |
| ADGRG1 | 1 | Sep 9, 2021 |
| ADGRV1 | 1 | Sep 9, 2021 |
| ADSS1 | 1 | Apr 26, 2025 |
| AFG3L2 | 1 | Apr 26, 2025 |
| AGL | 6 | May 15, 2025 |
| AGRN | 3 | Apr 26, 2025 |
| AGXT | 1 | Sep 9, 2021 |
| AIFM1 | 2 | Apr 26, 2025 |
| AIPL1 | 1 | Sep 9, 2021 |
| ALDH18A1 | 1 | Sep 9, 2021 |
| ALDH7A1 | 1 | Sep 9, 2021 |
| ALMS1 | 1 | Sep 9, 2021 |
| ALS2 | 2 | Sep 9, 2021 |
| AMPD2 | 3 | Apr 26, 2025 |
| ANK3 | 1 | Sep 9, 2021 |
| ANKRD11 | 1 | Sep 9, 2021 |
| ANO10 | 2 | Apr 26, 2025 |
| ANO5 | 7 | Apr 26, 2025 |
| AP3B1 | 1 | May 5, 2019 |
| AP4B1 | 1 | Sep 9, 2021 |
| AP4B1-AS1 | 1 | Sep 9, 2021 |
| AP4E1 | 4 | Apr 26, 2025 |
| AP4M1 | 1 | Sep 9, 2021 |
| APTX | 1 | Apr 26, 2025 |
| ARHGEF10 | 1 | Sep 22, 2024 |
| ARID1B | 1 | Jun 17, 2019 |
| ARL6 | 1 | Sep 9, 2021 |
| ARSA | 1 | Sep 9, 2021 |
| ARV1 | 1 | Sep 9, 2021 |
| ASAH1 | 5 | Apr 26, 2025 |
| ASPA | 1 | Sep 9, 2021 |
| ASPM | 4 | Sep 9, 2021 |
| ASTN2 | 3 | Apr 26, 2025 |
| ATL1 | 2 | Apr 26, 2025 |
| ATM | 14 | Apr 26, 2025 |
| ATP13A2 | 2 | Apr 26, 2025 |
| ATP1A1 | 1 | Apr 26, 2025 |
| ATP2B3 | 1 | May 5, 2019 |
| ATP6V1B1 | 1 | Sep 9, 2021 |
| ATP7B | 1 | Sep 9, 2021 |
| ATRX | 1 | Sep 9, 2021 |
| ATXN2 | 1 | Apr 26, 2025 |
| BAG3 | 3 | Apr 26, 2025 |
| BBS1 | 1 | Sep 9, 2021 |
| BBS12 | 4 | Sep 9, 2021 |
| BBS2 | 1 | Sep 9, 2021 |
| BBS7 | 1 | Sep 9, 2021 |
| BBS9 | 2 | Sep 9, 2021 |
| BCKDHB | 1 | Sep 9, 2021 |
| BICD2 | 1 | Apr 26, 2025 |
| BIN1 | 1 | May 15, 2025 |
| BMP1 | 1 | Sep 9, 2021 |
| BSCL2 | 6 | Apr 26, 2025 |
| C10orf105 | 1 | Sep 9, 2021 |
| C11orf65 | 8 | Apr 26, 2025 |
| C17orf107 | 12 | Apr 26, 2025 |
| C19orf12 | 4 | Apr 26, 2025 |
| CACNA1A | 5 | Apr 26, 2025 |
| CACNA1C | 1 | May 15, 2025 |
| CACNA1G | 1 | May 15, 2025 |
| CACNA1S | 3 | Apr 26, 2025 |
| CAMK2B | 1 | Sep 9, 2021 |
| CANT1 | 1 | Sep 9, 2021 |
| CAPN1 | 2 | Apr 26, 2025 |
| CAPN3 | 52 | Apr 26, 2025 |
| CASK | 1 | Sep 9, 2021 |
| CAV3 | 1 | Sep 9, 2021 |
| CBS | 1 | Sep 9, 2021 |
| CC2D2A | 1 | Sep 9, 2021 |
| CCDC78 | 1 | Apr 26, 2025 |
| CDC14A | 3 | Sep 9, 2021 |
| CDH23 | 4 | Sep 9, 2021 |
| CDK10 | 2 | Sep 9, 2021 |
| CDKL5 | 1 | Sep 9, 2021 |
| CEACAM16 | 1 | Sep 9, 2021 |
| CEACAM16-AS1 | 1 | Sep 9, 2021 |
| CEP290 | 7 | Sep 9, 2021 |
| CEP55 | 1 | Sep 9, 2021 |
| CEP63 | 2 | Apr 26, 2025 |
| CERS3 | 2 | Sep 9, 2021 |
| CERT1 | 1 | Jun 17, 2019 |
| CFAP96 | 1 | Sep 9, 2021 |
| CFTR | 1 | Sep 9, 2021 |
| CFTR-AS1 | 1 | Sep 9, 2021 |
| CHAT | 2 | Apr 26, 2025 |
| CHMP1A | 1 | May 5, 2019 |
| CHMP2B | 3 | Apr 26, 2025 |
| CHRNA1 | 6 | Apr 26, 2025 |
| CHRNB1 | 1 | Apr 26, 2025 |
| CHRND | 3 | Apr 26, 2025 |
| CHRNE | 21 | Apr 26, 2025 |
| CHRNG | 1 | Sep 9, 2021 |
| CLCN1 | 24 | Apr 26, 2025 |
| CLCN7 | 1 | Sep 9, 2021 |
| CLN3 | 1 | Apr 26, 2025 |
| CLN5 | 1 | Sep 9, 2021 |
| CLN6 | 3 | Sep 9, 2021 |
| CNGA3 | 1 | Sep 9, 2021 |
| COL11A2 | 1 | Sep 9, 2021 |
| COL12A1 | 2 | Apr 26, 2025 |
| COL13A1 | 1 | Apr 26, 2025 |
| COL17A1 | 1 | Sep 9, 2021 |
| COL1A1 | 3 | Sep 9, 2021 |
| COL1A2 | 2 | Sep 9, 2021 |
| COL2A1 | 1 | Sep 9, 2021 |
| COL6A1 | 10 | Apr 26, 2025 |
| COL6A2 | 17 | Apr 26, 2025 |
| COL6A3 | 6 | Apr 26, 2025 |
| COL7A1 | 4 | Sep 9, 2021 |
| COLQ | 11 | Apr 26, 2025 |
| COMP | 1 | Sep 9, 2021 |
| COQ4 | 4 | Apr 26, 2025 |
| COQ8A | 1 | Sep 9, 2021 |
| CPT2 | 2 | Apr 26, 2025 |
| CRB1 | 1 | Sep 9, 2021 |
| CRBN | 1 | Sep 9, 2021 |
| CREBBP | 1 | Sep 9, 2021 |
| CRPPA | 3 | Apr 26, 2025 |
| CRYAA | 1 | Sep 9, 2021 |
| CRYAB | 1 | Apr 26, 2025 |
| CTNNB1 | 1 | Sep 9, 2021 |
| CTSA | 1 | Sep 9, 2021 |
| CTSK | 1 | Sep 9, 2021 |
| CYB5R3 | 1 | May 5, 2019 |
| CYP2U1 | 2 | Apr 26, 2025 |
| CYP7B1 | 1 | Apr 26, 2025 |
| DCTN1 | 2 | May 15, 2025 |
| DCX | 1 | Sep 9, 2021 |
| DDHD1 | 1 | May 15, 2025 |
| DES | 5 | Apr 26, 2025 |
| DHTKD1 | 3 | Apr 26, 2025 |
| DMD | 43 | May 15, 2025 |
| DNA2 | 2 | Apr 26, 2025 |
| DNAJB2 | 4 | Apr 26, 2025 |
| DNAJB6 | 2 | Apr 26, 2025 |
| DNM2 | 5 | May 15, 2025 |
| DNMT1 | 1 | Apr 26, 2025 |
| DNMT3A | 1 | Sep 9, 2021 |
| DOK7 | 6 | Apr 26, 2025 |
| DPAGT1 | 2 | Apr 26, 2025 |
| DSG1 | 1 | Sep 9, 2021 |
| DST | 1 | Apr 26, 2025 |
| DYM | 1 | Sep 9, 2021 |
| DYNC1H1 | 4 | Apr 26, 2025 |
| DYSF | 51 | May 15, 2025 |
| ECEL1 | 1 | Apr 26, 2025 |
| EIF2B2 | 2 | Sep 9, 2021 |
| EMD | 1 | Apr 26, 2025 |
| EPM2A | 1 | Sep 9, 2021 |
| ERBB4 | 1 | Apr 26, 2025 |
| ERCC4 | 1 | Sep 9, 2021 |
| ERCC8 | 2 | Sep 9, 2021 |
| ERCC8-AS1 | 1 | Sep 9, 2021 |
| ERLIN1 | 1 | Apr 26, 2025 |
| ERLIN2 | 1 | Sep 9, 2021 |
| ESPN | 1 | May 5, 2019 |
| ETFA | 1 | Apr 26, 2025 |
| ETFDH | 10 | Apr 26, 2025 |
| ETHE1 | 1 | Sep 9, 2021 |
| EXOSC2 | 1 | Dec 25, 2018 |
| EXOSC3 | 2 | Sep 9, 2021 |
| EXT1 | 1 | Sep 9, 2021 |
| EYS | 1 | Sep 9, 2021 |
| FA2H | 1 | Apr 26, 2025 |
| FANCA | 2 | Sep 9, 2021 |
| FANCG | 1 | Sep 9, 2021 |
| FBLN5 | 1 | Sep 15, 2019 |
| FBN1 | 2 | Sep 9, 2021 |
| FBN2 | 1 | Jun 17, 2019 |
| FBXL3 | 1 | Sep 9, 2021 |
| FBXL4 | 1 | Apr 26, 2025 |
| FBXL5 | 1 | Sep 9, 2021 |
| FERMT1 | 1 | Sep 9, 2021 |
| FGD4 | 2 | Apr 26, 2025 |
| FGFR3 | 1 | Sep 9, 2021 |
| FHL1 | 7 | Apr 26, 2025 |
| FIG4 | 2 | Apr 26, 2025 |
| FKBP10 | 1 | Sep 9, 2021 |
| FKRP | 8 | Apr 26, 2025 |
| FKTN | 3 | Apr 26, 2025 |
| FLNA | 2 | Apr 26, 2025 |
| FLNB | 1 | Sep 9, 2021 |
| FLNC | 1 | Sep 9, 2021 |
| FOXG1 | 1 | Sep 9, 2021 |
| FREM1 | 1 | Sep 9, 2021 |
| FUCA1 | 1 | Sep 9, 2021 |
| FUS | 1 | Apr 26, 2025 |
| FYCO1 | 1 | Sep 9, 2021 |
| GAA | 7 | Apr 26, 2025 |
| GALC | 1 | Sep 9, 2021 |
| GALNS | 2 | Sep 9, 2021 |
| GAMT | 1 | Sep 9, 2021 |
| GAN | 2 | Apr 26, 2025 |
| GAREM2 | 1 | Jun 17, 2019 |
| GBA2 | 1 | Apr 26, 2025 |
| GBE1 | 2 | Apr 26, 2025 |
| GBF1 | 2 | Apr 26, 2025 |
| GCDH | 2 | Sep 9, 2021 |
| GCH1 | 1 | Sep 9, 2021 |
| GDAP1 | 9 | Apr 26, 2025 |
| GFER | 1 | Apr 26, 2025 |
| GFPT1 | 6 | Sep 16, 2025 |
| GH-LCR | 3 | Apr 26, 2025 |
| GIPC3 | 1 | Sep 8, 2024 |
| GJB1 | 7 | Apr 26, 2025 |
| GJB2 | 3 | Sep 9, 2021 |
| GJC2 | 3 | Apr 26, 2025 |
| GLI3 | 1 | Sep 9, 2021 |
| GMPPB | 7 | Apr 26, 2025 |
| GNAO1 | 2 | Sep 9, 2021 |
| GNB5 | 1 | Sep 9, 2021 |
| GNE | 8 | Apr 26, 2025 |
| GNPTAB | 3 | Sep 9, 2021 |
| GPHN | 1 | Sep 9, 2021 |
| GRM1 | 1 | Apr 26, 2025 |
| GYG1 | 1 | Apr 26, 2025 |
| HACE1 | 1 | Apr 23, 2019 |
| HADHA | 2 | Sep 15, 2019 |
| HARS1 | 4 | May 15, 2025 |
| HARS2 | 1 | Apr 26, 2025 |
| HECW2 | 1 | Sep 9, 2021 |
| HEXB | 1 | Apr 26, 2025 |
| HINT1 | 3 | Apr 26, 2025 |
| HJV | 1 | May 5, 2019 |
| HNRNPUL2-BSCL2 | 6 | Apr 26, 2025 |
| HPS6 | 1 | Sep 9, 2021 |
| HSD17B4 | 1 | Sep 9, 2021 |
| HSPB1 | 6 | Apr 26, 2025 |
| HSPG2 | 1 | Apr 26, 2025 |
| IGHMBP2 | 4 | Apr 26, 2025 |
| INF2 | 2 | Apr 26, 2025 |
| ISCU | 1 | Apr 26, 2025 |
| ITGA7 | 1 | Sep 9, 2021 |
| ITGB4 | 1 | Sep 9, 2021 |
| ITPR1 | 1 | Nov 26, 2017 |
| ITPR3 | 1 | Apr 26, 2025 |
| JAG2 | 3 | Apr 26, 2025 |
| KAT6B | 1 | Nov 11, 2023 |
| KCNC3 | 1 | Apr 26, 2025 |
| KCNJ10 | 2 | Sep 9, 2021 |
| KCNQ1 | 3 | Sep 9, 2021 |
| KIF1A | 3 | Apr 26, 2025 |
| KIF1B | 3 | Apr 26, 2025 |
| KIF1C | 1 | Sep 9, 2021 |
| KIF5A | 5 | Apr 26, 2025 |
| KISS1R | 1 | Sep 9, 2021 |
| KMT2D | 1 | Sep 9, 2021 |
| KRT14 | 1 | Sep 9, 2021 |
| KRT17 | 1 | Sep 9, 2021 |
| KY | 2 | Apr 26, 2025 |
| L2HGDH | 1 | Sep 9, 2021 |
| LAMA2 | 23 | May 15, 2025 |
| LAMB3 | 2 | Sep 9, 2021 |
| LAMC2 | 1 | Sep 9, 2021 |
| LHFPL5 | 1 | Sep 9, 2021 |
| LIMS2 | 2 | Apr 26, 2025 |
| LMNA | 15 | Apr 26, 2025 |
| LMOD3 | 3 | Apr 26, 2025 |
| LOC101928008 | 1 | Apr 26, 2025 |
| LOC105369149 | 1 | Apr 26, 2025 |
| LOC110121121 | 1 | Apr 26, 2025 |
| LOC111811965 | 1 | Sep 9, 2021 |
| LOC126805576 | 1 | Apr 26, 2025 |
| LOC126805822 | 1 | Apr 26, 2025 |
| LOC126806422 | 1 | Apr 26, 2025 |
| LOC126861615 | 1 | Sep 9, 2021 |
| LOC126861897 | 1 | Sep 9, 2021 |
| LOC126861898 | 1 | Apr 26, 2025 |
| LOC126862115 | 2 | Apr 26, 2025 |
| LOC126862124 | 1 | Sep 9, 2021 |
| LOC126862473 | 1 | Sep 9, 2021 |
| LOC126862500 | 1 | Apr 26, 2025 |
| LOC126862983 | 1 | Apr 26, 2025 |
| LOC129931597 | 1 | Apr 26, 2025 |
| LOC129992118 | 1 | Apr 26, 2025 |
| LOC129992585 | 1 | Sep 9, 2021 |
| LOC129994740 | 1 | May 15, 2025 |
| LOC129994848 | 1 | Apr 26, 2025 |
| LOC129999976 | 1 | Sep 9, 2021 |
| LOC130000622 | 2 | Apr 26, 2025 |
| LOC130001681 | 1 | Apr 26, 2025 |
| LOC130005097 | 1 | Sep 9, 2021 |
| LOC130056175 | 1 | Apr 26, 2025 |
| LOC130056921 | 2 | Apr 26, 2025 |
| LOC130059394 | 1 | Apr 26, 2025 |
| LOC130059818 | 1 | Apr 26, 2025 |
| LOC130059891 | 1 | Sep 9, 2021 |
| LOC130060041 | 1 | Sep 9, 2021 |
| LOC130064775 | 1 | Apr 26, 2025 |
| LOC130067864 | 1 | Apr 26, 2025 |
| LPIN1 | 1 | May 15, 2025 |
| LRAT | 1 | Sep 9, 2021 |
| LRP4 | 2 | Apr 26, 2025 |
| LRP4-AS1 | 1 | Apr 26, 2025 |
| LRSAM1 | 1 | Apr 26, 2025 |
| LYSET | 1 | Dec 1, 2024 |
| MAG | 1 | Apr 26, 2025 |
| MAPT | 1 | Apr 26, 2025 |
| MARS1 | 1 | Apr 26, 2025 |
| MARVELD2 | 1 | Sep 9, 2021 |
| MASP2 | 1 | Apr 26, 2025 |
| MCOLN1 | 2 | Apr 26, 2025 |
| MCPH1 | 1 | Sep 9, 2021 |
| MECP2 | 3 | Sep 9, 2021 |
| MEGF10 | 2 | Apr 26, 2025 |
| MFN2 | 9 | Apr 26, 2025 |
| MFSD8 | 1 | Sep 9, 2021 |
| MGME1 | 1 | Apr 26, 2025 |
| MHRT | 2 | Apr 26, 2025 |
| MICU1 | 3 | Apr 26, 2025 |
| MINK1 | 1 | Apr 26, 2025 |
| MIR4733HG | 1 | Sep 9, 2021 |
| MITF | 1 | Sep 9, 2021 |
| MKKS | 1 | Sep 9, 2021 |
| MLC1 | 1 | Sep 9, 2021 |
| MMACHC | 1 | Sep 9, 2021 |
| MME | 9 | Apr 26, 2025 |
| MMUT | 3 | Sep 9, 2021 |
| MOCS2 | 1 | Sep 9, 2021 |
| MORC2 | 1 | Apr 26, 2025 |
| MPV17 | 3 | Apr 26, 2025 |
| MPZ | 7 | Apr 26, 2025 |
| MTHFR | 1 | Sep 9, 2021 |
| MTM1 | 1 | Apr 26, 2025 |
| MTMR2 | 4 | Apr 26, 2025 |
| MTO1 | 1 | Apr 26, 2025 |
| MYBPC1 | 3 | May 15, 2025 |
| MYH14 | 3 | Apr 26, 2025 |
| MYH2 | 2 | Apr 26, 2025 |
| MYH7 | 6 | Apr 26, 2025 |
| MYHAS | 2 | Apr 26, 2025 |
| MYO15A | 6 | Sep 9, 2021 |
| MYO18B | 1 | Apr 26, 2025 |
| MYO6 | 1 | Sep 9, 2021 |
| MYO7A | 8 | Sep 9, 2021 |
| MYO9B | 1 | Sep 8, 2024 |
| MYOT | 1 | Apr 26, 2025 |
| MYPN | 3 | Apr 26, 2025 |
| NAGLU | 1 | Sep 9, 2021 |
| NALCN | 3 | Sep 9, 2021 |
| NBN | 1 | Sep 9, 2021 |
| NCAPH2 | 1 | Apr 26, 2025 |
| NCSTN | 1 | Sep 9, 2021 |
| NDRG1 | 3 | Apr 26, 2025 |
| NEB | 15 | Apr 26, 2025 |
| NEFL | 4 | Apr 26, 2025 |
| NEK1 | 1 | Apr 26, 2025 |
| NF1 | 10 | Sep 9, 2021 |
| NGLY1 | 2 | Mar 9, 2020 |
| NIN | 1 | Dec 1, 2024 |
| NPC1 | 2 | Sep 9, 2021 |
| NTNG2 | 1 | Sep 9, 2021 |
| OPA1 | 1 | Apr 26, 2025 |
| OPHN1 | 1 | Sep 9, 2021 |
| OPTN | 1 | Apr 26, 2025 |
| OTOF | 2 | Sep 9, 2021 |
| OXTR | 1 | Sep 9, 2021 |
| PAH | 2 | Sep 9, 2021 |
| PCCB | 1 | Sep 9, 2021 |
| PCDH15 | 1 | Sep 9, 2021 |
| PCYT2 | 1 | Apr 26, 2025 |
| PDE6B | 1 | Jun 17, 2019 |
| PDE6C | 1 | Sep 9, 2021 |
| PDHA1 | 1 | Sep 9, 2021 |
| PDK3 | 1 | Apr 26, 2025 |
| PDZD7 | 1 | Sep 9, 2021 |
| PEX1 | 1 | Sep 9, 2021 |
| PEX2 | 1 | Sep 9, 2021 |
| PEX5 | 1 | Sep 9, 2021 |
| PEX7 | 1 | Sep 9, 2021 |
| PGM1 | 1 | Sep 9, 2021 |
| PHKA1 | 1 | Apr 26, 2025 |
| PI4KA | 1 | Apr 26, 2025 |
| PIEZO2 | 3 | Apr 26, 2025 |
| PIGG | 1 | Apr 23, 2019 |
| PIGN | 1 | May 5, 2019 |
| PITRM1 | 1 | Apr 26, 2025 |
| PITRM1-AS1 | 1 | Apr 26, 2025 |
| PJVK | 1 | Sep 9, 2021 |
| PKD2L2-DT | 1 | Apr 26, 2025 |
| PKDCC | 1 | Nov 17, 2022 |
| PKHD1 | 3 | Sep 9, 2021 |
| PLA2G6 | 5 | Sep 9, 2021 |
| PLEC | 8 | Apr 26, 2025 |
| PLEKHG5 | 5 | Apr 26, 2025 |
| PLIN4 | 1 | Apr 26, 2025 |
| PLXNB3-AS1 | 1 | Sep 9, 2021 |
| PMP2 | 2 | Apr 26, 2025 |
| PMP22 | 3 | Apr 26, 2025 |
| PNKP | 4 | Apr 26, 2025 |
| PNPLA1 | 1 | Sep 9, 2021 |
| PNPLA2 | 4 | Apr 26, 2025 |
| PNPLA6 | 1 | Apr 26, 2025 |
| PNPLA8 | 2 | Apr 26, 2025 |
| POGLUT1 | 2 | Apr 26, 2025 |
| POLG | 6 | Apr 26, 2025 |
| POLGARF | 6 | Apr 26, 2025 |
| POLK | 1 | Jun 17, 2019 |
| POLR3B | 2 | Apr 26, 2025 |
| POMGNT1 | 4 | Apr 26, 2025 |
| POMT1 | 8 | Apr 26, 2025 |
| POMT2 | 4 | Apr 26, 2025 |
| POPDC1-AS1 | 1 | Apr 26, 2025 |
| POPDC3 | 1 | Apr 26, 2025 |
| POU3F4 | 1 | Sep 9, 2021 |
| PPOX | 1 | Sep 9, 2021 |
| PPT1 | 1 | Sep 9, 2021 |
| PRG4 | 1 | Sep 9, 2021 |
| PRKCG | 1 | Apr 26, 2025 |
| PRPH | 1 | Apr 26, 2025 |
| PRPS1 | 2 | Apr 26, 2025 |
| PRX | 4 | Apr 26, 2025 |
| PSEN1 | 2 | Apr 26, 2025 |
| PTEN | 2 | Sep 9, 2021 |
| PTPN11 | 2 | Sep 9, 2021 |
| PTPRQ | 2 | Sep 9, 2021 |
| PTRH2 | 1 | Apr 26, 2025 |
| PURA | 1 | Sep 9, 2021 |
| PUS1 | 1 | Apr 26, 2025 |
| PYCR1 | 1 | Sep 9, 2021 |
| PYGM | 4 | Apr 26, 2025 |
| PYROXD1 | 1 | Apr 26, 2025 |
| RAB33A | 2 | Apr 26, 2025 |
| RAB3GAP2 | 1 | Jun 17, 2019 |
| RAG2 | 1 | Sep 9, 2021 |
| RAPSN | 2 | Apr 26, 2025 |
| RBCK1 | 1 | Apr 26, 2025 |
| RBM10 | 1 | Sep 9, 2021 |
| RD3 | 1 | Sep 9, 2021 |
| RDH12 | 1 | Sep 9, 2021 |
| REEP1 | 2 | Apr 26, 2025 |
| REEP2 | 1 | May 15, 2025 |
| RETREG1 | 1 | Apr 26, 2025 |
| RIF1 | 3 | Apr 26, 2025 |
| RLBP1 | 1 | Sep 9, 2021 |
| RLIG1 | 1 | Dec 15, 2019 |
| RMND1 | 1 | Sep 9, 2021 |
| RNASEH1 | 1 | Apr 26, 2025 |
| RNASEH2B | 1 | Sep 9, 2021 |
| RNASEH2C | 1 | Sep 9, 2021 |
| RPE65 | 2 | Sep 9, 2021 |
| RPGRIP1L | 1 | Sep 9, 2021 |
| RPS24 | 1 | Sep 9, 2021 |
| RTEL1 | 1 | Sep 9, 2021 |
| RTEL1-TNFRSF6B | 1 | Sep 9, 2021 |
| RTN2 | 1 | Apr 26, 2025 |
| RUBCN | 1 | Apr 26, 2025 |
| RYR1 | 19 | Apr 26, 2025 |
| RYR3 | 4 | Apr 26, 2025 |
| SACS | 16 | Apr 26, 2025 |
| SAMD9L | 3 | Apr 26, 2025 |
| SBF1 | 1 | Apr 26, 2025 |
| SBF2 | 6 | Apr 26, 2025 |
| SBF2-AS1 | 1 | Apr 26, 2025 |
| SCN2A | 1 | Apr 26, 2025 |
| SCN4A | 3 | Apr 26, 2025 |
| SCO2 | 1 | Apr 26, 2025 |
| SDHA | 1 | Apr 26, 2025 |
| SELENON | 5 | Apr 26, 2025 |
| SERPINF1 | 1 | Sep 9, 2021 |
| SERPINI1 | 1 | Sep 9, 2021 |
| SETBP1 | 1 | Sep 9, 2021 |
| SETX | 8 | Apr 26, 2025 |
| SGCA | 19 | Apr 26, 2025 |
| SGCB | 5 | Apr 26, 2025 |
| SGCD | 5 | Apr 26, 2025 |
| SGCG | 9 | May 15, 2025 |
| SGSH | 1 | Sep 9, 2021 |
| SH3TC2 | 8 | Apr 26, 2025 |
| SIGMAR1 | 3 | Apr 26, 2025 |
| SIL1 | 1 | Apr 26, 2025 |
| SLC12A1 | 1 | Sep 9, 2021 |
| SLC12A6 | 3 | Apr 26, 2025 |
| SLC18A3 | 1 | Apr 26, 2025 |
| SLC19A2 | 1 | Sep 9, 2021 |
| SLC22A5 | 1 | Sep 9, 2021 |
| SLC26A4 | 3 | Sep 9, 2021 |
| SLC29A3 | 1 | Sep 9, 2021 |
| SLC33A1 | 1 | Apr 26, 2025 |
| SLC52A2 | 3 | Apr 26, 2025 |
| SLC52A3 | 1 | Apr 26, 2025 |
| SMC1A | 1 | Sep 9, 2021 |
| SMCHD1 | 3 | Apr 26, 2025 |
| SMN1 | 1 | Apr 26, 2025 |
| SMPD1 | 1 | Sep 9, 2021 |
| SNX14 | 1 | Apr 26, 2025 |
| SOD1 | 8 | Apr 26, 2025 |
| SORD | 3 | Apr 26, 2025 |
| SPAST | 3 | Apr 26, 2025 |
| SPATA22 | 1 | Sep 9, 2021 |
| SPG11 | 17 | Apr 26, 2025 |
| SPG21 | 1 | May 15, 2025 |
| SPG7 | 8 | May 15, 2025 |
| SPTA1 | 1 | Sep 9, 2021 |
| SPTLC1 | 3 | Apr 26, 2025 |
| SRCAP | 1 | Sep 9, 2021 |
| SRD5A2 | 1 | Sep 9, 2021 |
| SRD5A3 | 3 | Sep 9, 2021 |
| SRD5A3-AS1 | 1 | Sep 9, 2021 |
| STRN4 | 1 | Apr 26, 2025 |
| STUB1 | 2 | Apr 26, 2025 |
| SYNE1 | 13 | Apr 26, 2025 |
| SYNE2 | 1 | Apr 26, 2025 |
| SYT2 | 1 | Sep 15, 2019 |
| SZT2 | 1 | Nov 26, 2017 |
| TANGO2 | 1 | Sep 9, 2021 |
| TAPBPL | 1 | Apr 26, 2025 |
| TARDBP | 4 | Apr 26, 2025 |
| TBC1D24 | 2 | Sep 9, 2021 |
| TBCEL-TECTA | 1 | Sep 9, 2021 |
| TBCK | 2 | Sep 9, 2021 |
| TBK1 | 1 | Apr 26, 2025 |
| TBX4 | 1 | Sep 9, 2021 |
| TCAP | 4 | Apr 26, 2025 |
| TCIRG1 | 1 | Sep 9, 2021 |
| TECTA | 1 | Sep 9, 2021 |
| TFG | 1 | Apr 26, 2025 |
| TGM1 | 5 | Sep 9, 2021 |
| TGM6 | 2 | Apr 26, 2025 |
| TIA1 | 1 | Apr 26, 2025 |
| TK2 | 5 | Apr 26, 2025 |
| TMC1 | 1 | Sep 9, 2021 |
| TMEM216 | 1 | Sep 9, 2021 |
| TMEM67 | 1 | Sep 9, 2021 |
| TMEM94 | 1 | Sep 9, 2021 |
| TMIE | 1 | Sep 9, 2021 |
| TMPRSS3 | 2 | Sep 9, 2021 |
| TMPRSS6 | 1 | Sep 9, 2021 |
| TMX2 | 1 | Sep 9, 2021 |
| TMX2-CTNND1 | 1 | Sep 9, 2021 |
| TNNT1 | 2 | Apr 26, 2025 |
| TPM1 | 1 | Apr 26, 2025 |
| TPM3 | 1 | May 15, 2025 |
| TPP1 | 3 | Sep 9, 2021 |
| TPRN | 1 | Sep 9, 2021 |
| TRAPPC9 | 3 | Sep 9, 2021 |
| TRIM32 | 3 | Apr 26, 2025 |
| TRIM54 | 2 | Apr 26, 2025 |
| TRMT10A | 1 | Sep 9, 2021 |
| TROAP-AS1 | 1 | Apr 26, 2025 |
| TRPV4 | 4 | May 15, 2025 |
| TSC2 | 1 | Sep 9, 2021 |
| TSEN54 | 1 | Sep 9, 2021 |
| TSPAN1 | 3 | Apr 26, 2025 |
| TTN | 16 | May 15, 2025 |
| TTN-AS1 | 11 | Apr 26, 2025 |
| TTPA | 1 | Sep 9, 2021 |
| TTR | 1 | Apr 26, 2025 |
| TUBA1A | 1 | Sep 9, 2021 |
| TUBA4A | 1 | Apr 26, 2025 |
| TUBB4A | 1 | Sep 9, 2021 |
| TULP1 | 1 | Sep 9, 2021 |
| TUSC3 | 1 | Sep 9, 2021 |
| TWNK | 4 | Apr 26, 2025 |
| TYMP | 3 | Apr 26, 2025 |
| TYR | 7 | Sep 9, 2021 |
| UBA1 | 1 | Apr 26, 2025 |
| UCN | 2 | Apr 26, 2025 |
| UFSP2 | 1 | Sep 9, 2021 |
| USH2A | 6 | Sep 9, 2021 |
| USH2A-AS1 | 1 | Sep 9, 2021 |
| VAMP1 | 1 | Apr 26, 2025 |
| VCP | 1 | Apr 26, 2025 |
| VLDLR | 1 | Sep 9, 2021 |
| VPS13A | 1 | Sep 9, 2021 |
| VPS13B | 3 | Sep 9, 2021 |
| VPS13D | 2 | Apr 26, 2025 |
| VRK1 | 2 | Apr 26, 2025 |
| VWA3B | 2 | Apr 26, 2025 |
| VWF | 1 | Sep 9, 2021 |
| WAS | 1 | Sep 9, 2021 |
| WASHC5 | 1 | Apr 26, 2025 |
| WDR62 | 1 | Sep 9, 2021 |
| WDR73 | 1 | Sep 9, 2021 |
| WNK1 | 1 | Apr 26, 2025 |
| WWOX | 3 | Sep 9, 2021 |
| ZDHHC24 | 1 | Sep 9, 2021 |
| ZEB2 | 1 | Sep 9, 2021 |
| ZFR | 1 | May 5, 2019 |
| ZFYVE26 | 8 | May 15, 2025 |
| ZIC2 | 1 | Sep 9, 2021 |