Laboratory of Molecular Genetics (Pr. Bezieau's lab) (CHU de Nantes), MedGenet
General information
Personnel
- Thomas Besnard, Contact
Phone: +33 2 40 08 40 23
Email: thomas.besnard@chu-nantes.fr - Benjamin Cogne, Contact
Phone: +33 2 40 08 40 20
Email: benjamin.cogne@chu-nantes.fr - Sebastien KURY, Contact
Phone: 33240084299
Email: Sebastien.Kury@univ-nantes.fr - Sébastien Küry, Contact
Phone: +33 2 44 76 82 85
Email: sebastien.kury@chu-nantes.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 834
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AAAS | 1 | Nov 18, 2021 |
| AARS1 | 2 | Feb 7, 2018 |
| ABHD16A | 1 | Aug 22, 2022 |
| ACSM3 | 9 | Jan 12, 2022 |
| ACTB | 7 | Nov 6, 2023 |
| ACTG1 | 1 | Feb 22, 2019 |
| ADGRL1 | 1 | Nov 6, 2023 |
| ADGRL1-AS1 | 1 | Nov 6, 2023 |
| ADNP | 3 | Aug 22, 2022 |
| AFF2 | 1 | Feb 22, 2019 |
| AFG2A | 2 | Nov 6, 2023 |
| AGA | 1 | Aug 22, 2022 |
| AGO2 | 1 | Aug 22, 2022 |
| AGRN | 2 | Aug 22, 2022 |
| AHDC1 | 2 | Nov 6, 2023 |
| ALG13 | 2 | Feb 22, 2019 |
| ALPK3 | 2 | Apr 20, 2021 |
| ANKRD11 | 9 | Nov 6, 2023 |
| AP1G1 | 1 | Nov 18, 2021 |
| AP2M1 | 1 | Apr 20, 2021 |
| AP2S1 | 1 | Apr 20, 2021 |
| AP4S1 | 3 | Apr 20, 2021 |
| ARHGEF9 | 1 | Feb 7, 2018 |
| ARID1A | 1 | Apr 20, 2021 |
| ARID1B | 5 | Nov 18, 2021 |
| ARID2 | 3 | Nov 18, 2021 |
| ARSA | 2 | Nov 18, 2021 |
| ASH1L | 5 | Nov 6, 2023 |
| ASL | 3 | Nov 6, 2023 |
| ASNS | 1 | Feb 7, 2018 |
| ASXL2 | 1 | Nov 6, 2023 |
| ASXL3 | 4 | Nov 6, 2023 |
| ATP2B1 | 3 | Nov 6, 2023 |
| ATP2B3 | 1 | Nov 6, 2023 |
| ATP6V1B2 | 1 | Feb 17, 2020 |
| ATRIP | 2 | Nov 6, 2023 |
| ATRIP-TREX1 | 2 | Nov 6, 2023 |
| ATRX | 2 | Aug 22, 2022 |
| ATXN7L3-AS1 | 1 | Nov 18, 2021 |
| AUTS2 | 1 | Feb 22, 2019 |
| AVPR2 | 1 | Feb 17, 2020 |
| BAP1 | 10 | Jun 22, 2021 |
| BCL11B | 1 | Feb 17, 2020 |
| BCOR | 1 | Feb 7, 2018 |
| BCORL1 | 1 | Aug 22, 2022 |
| BCS1L | 2 | Feb 7, 2018 |
| BPTF | 2 | Nov 6, 2023 |
| BRAF | 1 | Feb 22, 2019 |
| BRD4 | 1 | Nov 18, 2021 |
| BRPF1 | 2 | Aug 22, 2022 |
| BRWD3 | 1 | Nov 6, 2023 |
| CACNA1A | 1 | Nov 6, 2023 |
| CACNA1F | 1 | Feb 17, 2020 |
| CACNG2 | 1 | Aug 22, 2022 |
| CAMK2A | 11 | Nov 6, 2023 |
| CAMK2B | 8 | Nov 18, 2021 |
| CAMK2D | 8 | Mar 7, 2023 |
| CAMK2G | 1 | Nov 6, 2023 |
| CAMTA1 | 2 | Nov 6, 2023 |
| CASK | 4 | Nov 6, 2023 |
| CASR | 1 | Apr 20, 2021 |
| CBL | 1 | Aug 22, 2022 |
| CC2D2A | 5 | Nov 6, 2023 |
| CCDC22 | 1 | Feb 22, 2019 |
| CDC42 | 1 | Apr 20, 2021 |
| CDK10 | 1 | Feb 17, 2020 |
| CDK13 | 2 | Nov 6, 2023 |
| CDK19 | 1 | Apr 20, 2021 |
| CDKL5 | 2 | Feb 17, 2020 |
| CENPF | 2 | Feb 7, 2018 |
| CEP85L | 1 | Apr 20, 2021 |
| CHAMP1 | 1 | Apr 20, 2021 |
| CHD1 | 1 | Aug 22, 2022 |
| CHD2 | 5 | Nov 6, 2023 |
| CHD3 | 1 | Nov 18, 2021 |
| CHD4 | 3 | Feb 17, 2020 |
| CHD5 | 1 | Nov 18, 2021 |
| CHD7 | 3 | Apr 20, 2021 |
| CHD8 | 7 | Nov 6, 2023 |
| CHRNA7 | 1 | Feb 22, 2019 |
| CIC | 3 | Nov 6, 2023 |
| CLCN4 | 3 | Nov 18, 2021 |
| CLN6 | 2 | Apr 20, 2021 |
| CLPB | 2 | Feb 22, 2019 |
| CLTC | 1 | Aug 22, 2022 |
| CNKSR2 | 1 | Apr 20, 2021 |
| CNOT1 | 1 | Nov 6, 2023 |
| CNOT2 | 1 | Apr 20, 2021 |
| CNOT3 | 1 | Feb 17, 2020 |
| CNTNAP1 | 1 | Jun 15, 2016 |
| COG4 | 2 | Feb 7, 2018 |
| COL11A1 | 1 | Nov 18, 2021 |
| COL12A1 | 1 | Aug 22, 2022 |
| COPB2 | 1 | Feb 17, 2020 |
| CREBBP | 5 | Aug 22, 2022 |
| CSNK2A1 | 6 | Nov 6, 2023 |
| CSNK2B | 2 | Aug 22, 2022 |
| CTNNB1 | 4 | Aug 22, 2022 |
| CTNND2 | 1 | Nov 6, 2023 |
| CTSF | 2 | Apr 20, 2021 |
| CUL3 | 3 | Nov 18, 2021 |
| CUL4B | 1 | Feb 22, 2019 |
| CUX1 | 3 | Apr 20, 2021 |
| CZ1P-ASNS | 1 | Feb 7, 2018 |
| DCX | 2 | Nov 6, 2023 |
| DDX3X | 9 | Nov 6, 2023 |
| DEAF1 | 2 | Feb 17, 2020 |
| DIP2C | 4 | Nov 6, 2023 |
| DIS3L2 | 1 | Aug 22, 2022 |
| DLG3 | 1 | Nov 18, 2021 |
| DLG4 | 1 | Feb 17, 2020 |
| DNM1 | 1 | Feb 17, 2020 |
| DNM2 | 1 | Feb 7, 2018 |
| DNMT3A | 5 | Nov 6, 2023 |
| DSCAM | 1 | Feb 7, 2018 |
| DUSP29 | 1 | Apr 20, 2021 |
| DYNC1H1 | 3 | Apr 20, 2021 |
| DYRK1A | 3 | Nov 6, 2023 |
| EBF3 | 3 | Nov 6, 2023 |
| EEF1A2 | 1 | Aug 22, 2022 |
| EFTUD2 | 2 | Aug 22, 2022 |
| EHMT1 | 7 | Nov 6, 2023 |
| EIF3F | 1 | Aug 22, 2022 |
| EIF5A | 1 | Apr 20, 2021 |
| EP300 | 3 | Apr 20, 2021 |
| EP400 | 2 | Aug 22, 2022 |
| ERF | 1 | Apr 20, 2021 |
| EZH2 | 1 | Apr 20, 2021 |
| FBXL4 | 2 | Feb 7, 2018 |
| FBXO11 | 2 | Nov 6, 2023 |
| FBXW7 | 2 | Aug 22, 2022 |
| FBXW7-AS1 | 1 | Aug 22, 2022 |
| FCSK | 2 | Nov 6, 2023 |
| FGD1 | 1 | Feb 22, 2019 |
| FGF12 | 1 | Feb 7, 2018 |
| FGF13 | 1 | Apr 20, 2021 |
| FKBP14 | 1 | Feb 7, 2018 |
| FKBP14-AS1 | 1 | Feb 7, 2018 |
| FLNA | 1 | Nov 18, 2021 |
| FOSL2 | 1 | Nov 18, 2021 |
| FOXG1 | 3 | Nov 18, 2021 |
| FOXP1 | 2 | Aug 22, 2022 |
| FOXP3 | 1 | Nov 6, 2023 |
| FRMPD4 | 1 | Nov 6, 2023 |
| FTSJ1 | 1 | Feb 17, 2020 |
| FUCA1 | 1 | Feb 22, 2019 |
| GABBR2 | 1 | Feb 17, 2020 |
| GAMT | 1 | Feb 17, 2020 |
| GATA3 | 1 | Apr 20, 2021 |
| GATAD2B | 1 | Feb 7, 2018 |
| GBA2 | 2 | Nov 6, 2023 |
| GDI1 | 1 | Feb 22, 2019 |
| GFER | 1 | Feb 17, 2020 |
| GNAI1 | 1 | Nov 18, 2021 |
| GNB1 | 3 | Feb 17, 2020 |
| GPT2 | 1 | Feb 17, 2020 |
| GRIA1 | 1 | Apr 20, 2021 |
| GRIA2 | 1 | Aug 22, 2022 |
| GRIA3 | 1 | Apr 20, 2021 |
| GRIN1 | 1 | Apr 20, 2021 |
| GRIN2A | 4 | Nov 18, 2021 |
| GRIN2B | 5 | Nov 6, 2023 |
| GRIPAP1 | 1 | Apr 20, 2021 |
| H1-4 | 2 | Apr 20, 2021 |
| HCCS | 1 | Feb 7, 2018 |
| HDAC8 | 1 | Apr 20, 2021 |
| HERC1 | 2 | Apr 20, 2021 |
| HK1 | 1 | Nov 18, 2021 |
| HNRNPU | 1 | Feb 7, 2018 |
| HUWE1 | 3 | Feb 17, 2020 |
| IFT172 | 1 | Aug 22, 2022 |
| IGF1R | 4 | Nov 6, 2023 |
| IGHMBP2 | 2 | Aug 22, 2022 |
| IQSEC2 | 3 | Aug 22, 2022 |
| IRAIN | 1 | Apr 20, 2021 |
| IRAK1BP1 | 1 | Aug 22, 2022 |
| ITPR1 | 3 | Nov 6, 2023 |
| JAG1 | 1 | Feb 7, 2018 |
| JARID2 | 2 | Nov 18, 2021 |
| JMJD1C | 1 | Nov 18, 2021 |
| KAT5 | 1 | Nov 6, 2023 |
| KAT6A | 3 | Nov 6, 2023 |
| KAT6B | 2 | Apr 20, 2021 |
| KCNA2 | 3 | Nov 18, 2021 |
| KCNB1 | 1 | Feb 17, 2020 |
| KCNC1 | 1 | Feb 7, 2018 |
| KCNC3 | 1 | Feb 7, 2018 |
| KCNH1 | 2 | Apr 20, 2021 |
| KCNK9 | 1 | Feb 22, 2019 |
| KCNMA1 | 1 | Feb 17, 2020 |
| KCNQ2 | 2 | Nov 6, 2023 |
| KCNQ3 | 1 | Feb 22, 2019 |
| KCNT1 | 1 | Aug 22, 2022 |
| KDM3B | 2 | Aug 22, 2022 |
| KDM4B | 1 | Aug 22, 2022 |
| KDM5C | 2 | Nov 18, 2021 |
| KDM6A | 5 | Nov 6, 2023 |
| KIAA0586 | 2 | Nov 18, 2021 |
| KIF11 | 1 | Aug 22, 2022 |
| KIRREL3 | 1 | Feb 22, 2019 |
| KLHL20 | 1 | Apr 20, 2021 |
| KMT2A | 7 | Nov 6, 2023 |
| KMT2C | 4 | Nov 6, 2023 |
| KMT2D | 5 | Aug 22, 2022 |
| KMT2E | 2 | Aug 22, 2022 |
| KMT5B | 2 | Feb 22, 2019 |
| LAS1L | 1 | Apr 20, 2021 |
| LMAN2L | 1 | Aug 22, 2022 |
| LMBRD2 | 2 | Aug 22, 2022 |
| LMNB2 | 2 | Nov 6, 2023 |
| LMX1B | 1 | Nov 18, 2021 |
| LOC102724058 | 1 | Apr 20, 2021 |
| LOC114803470 | 1 | Feb 22, 2019 |
| LOC121587595 | 1 | Nov 18, 2021 |
| LOC126806490 | 1 | Feb 7, 2018 |
| LOC126806659 | 3 | Aug 22, 2022 |
| LOC126862479 | 1 | Feb 17, 2020 |
| LOC126862481 | 1 | Nov 18, 2021 |
| LOC126862611 | 1 | Aug 22, 2022 |
| LOC126862757 | 1 | Feb 7, 2018 |
| LOC126862785 | 1 | Feb 7, 2018 |
| LOC129937769 | 1 | Aug 22, 2022 |
| LOC129995144 | 1 | Nov 18, 2021 |
| LOC130009585 | 1 | Feb 22, 2019 |
| LOC130058602 | 1 | Jan 12, 2022 |
| LOC130060218 | 1 | Aug 22, 2022 |
| LOC130063065 | 1 | Nov 6, 2023 |
| LOC130063717 | 1 | Nov 6, 2023 |
| LOC130068746 | 1 | Apr 20, 2021 |
| LONP1 | 2 | Aug 22, 2022 |
| LONP2 | 1 | Nov 18, 2021 |
| MAGEL2 | 2 | Aug 22, 2022 |
| MAGT1 | 1 | Nov 6, 2023 |
| MAN1B1 | 2 | Feb 17, 2020 |
| MAOA | 1 | Feb 17, 2020 |
| MAPK8IP3 | 1 | Nov 18, 2021 |
| MEA1 | 1 | Nov 18, 2021 |
| MECP2 | 6 | Nov 18, 2021 |
| MED12L | 1 | Aug 22, 2022 |
| MED13 | 2 | Aug 22, 2022 |
| MED13L | 9 | Aug 22, 2022 |
| MED14 | 1 | Apr 20, 2021 |
| MED23 | 1 | Nov 18, 2021 |
| MED25 | 2 | Apr 20, 2021 |
| MEF2C | 2 | Nov 18, 2021 |
| MEIS2 | 1 | Feb 7, 2018 |
| MICU1 | 2 | Aug 22, 2022 |
| MIR6857 | 1 | Feb 7, 2018 |
| MORC2 | 1 | Apr 20, 2021 |
| MRPS22 | 1 | Feb 17, 2020 |
| MTM1 | 1 | Nov 6, 2023 |
| MTOR | 1 | Aug 22, 2022 |
| MYRF | 1 | Aug 22, 2022 |
| MYT1L | 6 | Nov 6, 2023 |
| NAA10 | 2 | Nov 6, 2023 |
| NAA15 | 5 | Nov 6, 2023 |
| NACC1 | 1 | Nov 6, 2023 |
| NALCN | 1 | Nov 18, 2021 |
| NARS2 | 1 | Feb 7, 2018 |
| NBAS | 2 | Nov 6, 2023 |
| NBEA | 2 | Nov 18, 2021 |
| NDUFB11 | 1 | Apr 20, 2021 |
| NEXMIF | 2 | Feb 17, 2020 |
| NF1 | 1 | Feb 22, 2019 |
| NFIA | 2 | Aug 22, 2022 |
| NFIB | 2 | Nov 6, 2023 |
| NFIX | 1 | Nov 6, 2023 |
| NIPBL | 2 | Nov 6, 2023 |
| NONO | 1 | Feb 22, 2019 |
| NR2F2 | 1 | Apr 20, 2021 |
| NRAS | 2 | Apr 20, 2021 |
| NSD1 | 3 | Nov 6, 2023 |
| NT5C2 | 1 | Nov 6, 2023 |
| NTRK1 | 1 | Nov 18, 2021 |
| NTRK2 | 1 | Feb 22, 2019 |
| OPA1 | 1 | Apr 20, 2021 |
| OTC | 1 | Feb 17, 2020 |
| OTUD6B | 1 | Feb 7, 2018 |
| P2RY12 | 1 | Aug 22, 2022 |
| PACS1 | 2 | Nov 6, 2023 |
| PACS2 | 1 | Feb 17, 2020 |
| PAK1 | 1 | Nov 6, 2023 |
| PAK3 | 2 | Feb 7, 2018 |
| PBX1 | 1 | Feb 17, 2020 |
| PCBP1 | 1 | Nov 18, 2021 |
| PCBP1-AS1 | 1 | Nov 18, 2021 |
| PEX6 | 2 | Feb 7, 2018 |
| PEX7 | 2 | Feb 7, 2018 |
| PGAP1 | 2 | Nov 6, 2023 |
| PGAP2 | 1 | Feb 22, 2019 |
| PHF2 | 1 | Nov 6, 2023 |
| PHF3 | 1 | Aug 22, 2022 |
| PHF6 | 1 | Feb 17, 2020 |
| PHIP | 1 | Aug 22, 2022 |
| PIK3R2 | 1 | Feb 17, 2020 |
| PKD1 | 1 | Feb 17, 2020 |
| POGZ | 6 | Nov 6, 2023 |
| POLR2A | 2 | Aug 22, 2022 |
| POMGNT1 | 2 | Feb 22, 2019 |
| PORCN | 1 | Feb 22, 2019 |
| PPP2R1A | 2 | Apr 20, 2021 |
| PPP2R5D | 1 | Nov 18, 2021 |
| PQBP1 | 2 | Feb 17, 2020 |
| PRKACA | 1 | Nov 18, 2021 |
| PSMD12 | 2 | Aug 22, 2022 |
| PTCHD1 | 2 | Nov 6, 2023 |
| PTEN | 1 | Feb 17, 2020 |
| PTPN11 | 2 | Apr 20, 2021 |
| PTPN23 | 1 | Nov 6, 2023 |
| PUF60 | 1 | Feb 17, 2020 |
| PUM1 | 1 | Apr 20, 2021 |
| PURA | 1 | Apr 20, 2021 |
| PYCR2 | 1 | Feb 7, 2018 |
| RAB39B | 1 | Apr 20, 2021 |
| RAD21 | 1 | Feb 17, 2020 |
| RAI1 | 2 | Nov 6, 2023 |
| RASA2 | 1 | Feb 22, 2019 |
| RERE | 3 | Nov 6, 2023 |
| RFX3 | 2 | Aug 22, 2022 |
| RLIM | 1 | Feb 22, 2019 |
| RNASEH2B | 1 | Feb 7, 2018 |
| RNASEH2C | 1 | Nov 6, 2023 |
| RNF170 | 1 | Nov 18, 2021 |
| RORA | 2 | Aug 22, 2022 |
| RORA-AS1 | 2 | Aug 22, 2022 |
| RPE65 | 1 | Aug 22, 2022 |
| RS1 | 1 | Feb 17, 2020 |
| RTTN | 2 | Feb 7, 2018 |
| RYR1 | 1 | Feb 22, 2019 |
| SATB1 | 2 | Aug 22, 2022 |
| SATB2 | 3 | Nov 6, 2023 |
| SCAF4 | 1 | Apr 20, 2021 |
| SCN1A | 1 | Apr 20, 2021 |
| SCN2A | 5 | Aug 22, 2022 |
| SCN8A | 9 | Nov 6, 2023 |
| SERPINA1 | 1 | Aug 22, 2022 |
| SET | 1 | Feb 17, 2020 |
| SETBP1 | 2 | Apr 20, 2021 |
| SETD1A | 1 | Apr 20, 2021 |
| SETD1B | 4 | Nov 6, 2023 |
| SETD2 | 3 | Aug 22, 2022 |
| SETD5 | 6 | Nov 18, 2021 |
| SF1 | 1 | Nov 18, 2021 |
| SGSH | 2 | Feb 22, 2019 |
| SHANK3 | 4 | Apr 20, 2021 |
| SHMT2 | 2 | Apr 20, 2021 |
| SHOC2 | 1 | Feb 22, 2019 |
| SIAH1 | 1 | Nov 18, 2021 |
| SIN3A | 1 | Nov 18, 2021 |
| SKI | 1 | Feb 22, 2019 |
| SLC16A2 | 1 | Feb 7, 2018 |
| SLC6A1 | 5 | Nov 6, 2023 |
| SLC6A5 | 1 | Feb 22, 2019 |
| SLC6A8 | 3 | Apr 20, 2021 |
| SLC9A6 | 1 | Apr 20, 2021 |
| SMAD4 | 1 | Feb 7, 2018 |
| SMARCA2 | 1 | Aug 22, 2022 |
| SMARCA4 | 4 | Aug 22, 2022 |
| SMARCB1 | 4 | Aug 22, 2022 |
| SMARCC2 | 2 | Aug 22, 2022 |
| SMARCD1 | 1 | Nov 6, 2023 |
| SMC1A | 2 | Feb 7, 2018 |
| SMC3 | 1 | Nov 6, 2023 |
| SNHG14 | 1 | Nov 6, 2023 |
| SNX14 | 2 | Apr 20, 2021 |
| SON | 1 | Feb 7, 2018 |
| SOX4 | 1 | Nov 18, 2021 |
| SOX5 | 1 | Feb 22, 2019 |
| SOX6 | 2 | Nov 18, 2021 |
| SPAST | 1 | Aug 22, 2022 |
| SPTAN1 | 4 | Nov 6, 2023 |
| SPTBN1 | 4 | Nov 6, 2023 |
| SRPK2 | 1 | Apr 20, 2021 |
| SRPK3 | 1 | Nov 6, 2023 |
| SRRM2 | 19 | Jan 11, 2022 |
| SSBP3 | 1 | Nov 18, 2021 |
| ST3GAL4 | 1 | Feb 22, 2019 |
| STAG1 | 4 | Apr 20, 2021 |
| STAG2 | 2 | Nov 6, 2023 |
| STX1B | 2 | Nov 6, 2023 |
| STXBP1 | 2 | Nov 6, 2023 |
| SUFU | 1 | Aug 22, 2022 |
| SUPT16H | 1 | Nov 18, 2021 |
| SUZ12 | 1 | Feb 17, 2020 |
| SYNGAP1 | 5 | Apr 20, 2021 |
| SYNGAP1-AS1 | 3 | Apr 20, 2021 |
| SYT1 | 2 | Apr 20, 2021 |
| TAF1 | 1 | Feb 22, 2019 |
| TAOK1 | 4 | Aug 22, 2022 |
| TAOK3 | 1 | Nov 18, 2021 |
| TARS2 | 2 | Apr 20, 2021 |
| TBL1XR1 | 2 | Apr 20, 2021 |
| TBL1XR1-AS1 | 1 | Apr 20, 2021 |
| TBR1 | 2 | Apr 20, 2021 |
| TCF20 | 1 | Feb 7, 2018 |
| TCF4 | 2 | Apr 20, 2021 |
| TET3 | 1 | Nov 18, 2021 |
| TFE3 | 1 | Apr 20, 2021 |
| THG1L | 2 | Nov 18, 2021 |
| THOC2 | 1 | Nov 18, 2021 |
| THRA | 2 | Nov 18, 2021 |
| THRB | 1 | Nov 6, 2023 |
| THUMPD1 | 9 | Jan 12, 2022 |
| TLK2 | 4 | Aug 22, 2022 |
| TMEM240 | 1 | Apr 20, 2021 |
| TMEM70 | 1 | Nov 6, 2023 |
| TNPO2 | 1 | Nov 18, 2021 |
| TOP2B | 1 | Nov 6, 2023 |
| TPO | 1 | Apr 20, 2021 |
| TPP1 | 1 | Feb 7, 2018 |
| TRAPPC9 | 2 | Feb 7, 2018 |
| TREX1 | 2 | Nov 6, 2023 |
| TRIO | 4 | Nov 18, 2021 |
| TRIP12 | 3 | Nov 6, 2023 |
| TRRAP | 2 | Nov 6, 2023 |
| TSC2 | 1 | Nov 18, 2021 |
| TSPAN1 | 2 | Feb 22, 2019 |
| TTC36-AS1 | 1 | Nov 6, 2023 |
| TUBA1A | 1 | Apr 20, 2021 |
| TUBB | 2 | Feb 17, 2020 |
| TUBB2A | 3 | Nov 18, 2021 |
| TUBB2B | 1 | Feb 7, 2018 |
| TUBB3 | 1 | Nov 6, 2023 |
| TUBB4A | 1 | Feb 22, 2019 |
| UBE3A | 1 | Nov 6, 2023 |
| UBR4 | 1 | Nov 18, 2021 |
| UBTF | 1 | Nov 18, 2021 |
| UFM1 | 1 | Feb 22, 2019 |
| UNC80 | 1 | Feb 7, 2018 |
| UPF3B | 2 | Aug 22, 2022 |
| USH2A | 1 | Nov 6, 2023 |
| USP27X | 1 | Nov 18, 2021 |
| USP7 | 1 | Nov 18, 2021 |
| USP9X | 5 | Nov 18, 2021 |
| VAMP2 | 1 | Aug 22, 2022 |
| VIM | 1 | Oct 3, 2019 |
| WAC | 3 | Nov 6, 2023 |
| WDFY3 | 2 | Nov 6, 2023 |
| WDR45 | 1 | Feb 7, 2018 |
| WNK3 | 6 | Mar 22, 2022 |
| YWHAG | 1 | Feb 17, 2020 |
| YY1 | 2 | Aug 22, 2022 |
| ZBTB20 | 4 | Nov 6, 2023 |
| ZC4H2 | 1 | Apr 20, 2021 |
| ZDHHC9 | 1 | Nov 6, 2023 |
| ZEB2 | 6 | Nov 6, 2023 |
| ZMIZ1 | 1 | Nov 6, 2023 |
| ZMYM2 | 4 | Nov 6, 2023 |
| ZMYND11 | 1 | Aug 22, 2022 |
| ZNF292 | 2 | Apr 20, 2021 |
| ZNF335 | 2 | Feb 7, 2018 |
| ZNF462 | 1 | Feb 7, 2018 |
| ZNF536 | 1 | Aug 22, 2022 |
| ZSWIM6 | 1 | Aug 22, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cleft palate | 1 | Feb 23, 2016 |
| Dystonic disorder | 1 | Feb 23, 2016 |
| Growth delay | 1 | Feb 23, 2016 |
| Hypothyroidism | 1 | Feb 23, 2016 |
| Infantile axial hypotonia | 1 | Feb 23, 2016 |
| Intellectual disability | 18 | Jul 6, 2017 |
| Lethal congenital contracture syndrome 7 | 1 | Jun 15, 2016 |
| Neurodevelopmental disorder | 510 | Nov 6, 2023 |
| See cases | 1 | Mar 7, 2023 |
| Upper limb hypertonia | 1 | Feb 23, 2016 |
| Usher syndrome type 2A | 1 | Nov 6, 2023 |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 1 | Nov 6, 2023 |
| not provided | 301 | Feb 17, 2020 |
| syndrome with premature-aging | 1 | Oct 3, 2019 |