MutSpliceDB: a database of splice sites variants effects on splicing (National Institutes of Health)
General information
MutSpliceDB: a database of splice sites variants effects on splicing
National Institutes of Health
9609 Medical Center Drive
Rockville
Maryland
United States - 20850
https://brb.nci.nih.gov/splicing
Organization ID: 506814
National Institutes of Health
9609 Medical Center Drive
Rockville
Maryland
United States - 20850
https://brb.nci.nih.gov/splicing
Organization ID: 506814
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 363
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC4 | 2 | Sep 30, 2022 |
| ABHD12 | 1 | Nov 10, 2022 |
| ACADM | 3 | Sep 1, 2023 |
| ACADVL | 3 | Jul 15, 2022 |
| ACOX1 | 1 | Sep 23, 2022 |
| ACTB | 1 | Nov 19, 2021 |
| ADA | 1 | Sep 9, 2022 |
| ADAMTS13 | 1 | Oct 21, 2022 |
| AHI1 | 1 | Sep 30, 2022 |
| APC | 1 | Mar 7, 2019 |
| ARFGEF1 | 1 | Jul 1, 2022 |
| ARID1A | 7 | Jan 20, 2023 |
| ARID1B | 2 | Mar 23, 2022 |
| ARID2 | 2 | Jan 26, 2023 |
| ARPC1B | 1 | Nov 10, 2022 |
| ASS1 | 1 | Jul 22, 2022 |
| ASXL1 | 2 | Jan 13, 2023 |
| ATM | 1 | Nov 7, 2019 |
| ATRX | 5 | Mar 31, 2022 |
| BAP1 | 3 | Sep 8, 2023 |
| BCAT2 | 1 | May 27, 2022 |
| BCKDK | 1 | Jul 15, 2022 |
| BCL7C | 1 | Jan 13, 2023 |
| BCOR | 1 | Nov 12, 2021 |
| BRCA1 | 3 | Aug 20, 2021 |
| BRIP1 | 1 | Apr 8, 2022 |
| CACNA1D | 1 | Aug 25, 2023 |
| CBL | 1 | Dec 10, 2021 |
| CC2D1A | 2 | Jun 24, 2022 |
| CDC73 | 1 | Jan 14, 2022 |
| CDH1 | 5 | May 6, 2022 |
| CDKN1A | 1 | Aug 9, 2019 |
| CDKN1B | 2 | Aug 6, 2021 |
| CDKN2A | 10 | Jan 19, 2022 |
| CDKN2C | 1 | Nov 7, 2019 |
| CLPP | 1 | May 27, 2022 |
| CNNM4 | 1 | Oct 21, 2022 |
| CPT1A | 1 | Aug 12, 2022 |
| CREBBP | 2 | May 6, 2022 |
| CSPP1 | 2 | Aug 12, 2022 |
| CTCF | 2 | Jan 21, 2022 |
| CYLD | 1 | Mar 11, 2022 |
| CYLD-AS2 | 1 | Mar 11, 2022 |
| DDB2 | 1 | Dec 24, 2021 |
| DHTKD1 | 1 | Jul 29, 2022 |
| DLD | 1 | Jun 24, 2022 |
| DNAH5 | 2 | Aug 12, 2022 |
| DNAJC19 | 1 | Jun 10, 2022 |
| DNMT3A | 4 | Jan 6, 2023 |
| ECHS1 | 2 | Aug 5, 2022 |
| EP300 | 4 | Aug 18, 2023 |
| EPS8L2 | 1 | Aug 26, 2022 |
| ERCC2 | 1 | Apr 29, 2022 |
| ERCC3 | 1 | Oct 28, 2022 |
| ERCC4 | 1 | Aug 18, 2023 |
| ETFDH | 1 | Sep 9, 2022 |
| EZH2 | 1 | Feb 28, 2024 |
| FAH | 1 | Nov 10, 2022 |
| FANCA | 2 | Mar 23, 2022 |
| FAS | 1 | May 14, 2022 |
| FGD4 | 1 | Nov 22, 2022 |
| FH | 1 | Sep 15, 2023 |
| FKTN | 1 | Aug 25, 2023 |
| FLAD1 | 2 | Dec 2, 2022 |
| FNIP1 | 1 | Sep 16, 2022 |
| GAA | 1 | May 27, 2022 |
| GLUL | 2 | Aug 26, 2022 |
| GPSM2 | 1 | May 20, 2022 |
| GPT2 | 1 | Nov 4, 2022 |
| GSS | 1 | Jun 5, 2022 |
| HADHA | 1 | Jul 1, 2022 |
| HEXA | 4 | Nov 22, 2022 |
| HPS4 | 1 | May 20, 2022 |
| INPP5E | 1 | Jun 10, 2022 |
| KDM5C | 1 | Aug 18, 2023 |
| KDM6A | 5 | Sep 8, 2023 |
| KEAP1 | 4 | Nov 12, 2021 |
| KLF6 | 2 | Apr 29, 2022 |
| KMT2C | 3 | Jan 20, 2023 |
| KMT2D | 5 | Mar 31, 2022 |
| KYNU | 1 | Aug 19, 2022 |
| LAMB1 | 1 | Aug 19, 2022 |
| LARS2 | 1 | Oct 7, 2022 |
| LOC107303340 | 4 | Sep 27, 2023 |
| LOC126805670 | 1 | Dec 24, 2021 |
| LOC126805944 | 1 | Aug 26, 2022 |
| LOC126806211 | 1 | Aug 5, 2022 |
| LOC132090445 | 1 | Mar 23, 2022 |
| LPIN1 | 1 | Jul 15, 2022 |
| LRPPRC | 1 | Sep 23, 2022 |
| MAP2K4 | 1 | Feb 4, 2022 |
| MCCC2 | 1 | Jul 29, 2022 |
| MED23 | 3 | Oct 7, 2022 |
| MEN1 | 1 | Apr 15, 2022 |
| MET | 5 | Sep 23, 2020 |
| MFSD8 | 1 | Oct 28, 2022 |
| MIR762HG | 1 | Jan 13, 2023 |
| MMAB | 1 | Jul 22, 2022 |
| MOGS | 1 | Nov 4, 2022 |
| MSH2 | 3 | Jul 16, 2021 |
| MTHFR | 1 | Jul 15, 2022 |
| NBEAL2 | 1 | Jun 17, 2022 |
| NBN | 1 | Jan 28, 2022 |
| NDUFS2 | 3 | Dec 2, 2022 |
| NDUFS4 | 1 | Jul 1, 2022 |
| NF1 | 6 | Sep 27, 2023 |
| NF2 | 2 | Sep 24, 2021 |
| NGLY1 | 1 | Sep 2, 2022 |
| PALB2 | 1 | Nov 7, 2019 |
| PEX6 | 1 | Sep 30, 2022 |
| PIK3R1 | 4 | Mar 23, 2022 |
| PLG | 1 | Oct 14, 2022 |
| PMS2 | 1 | Nov 7, 2019 |
| PNKP | 2 | Dec 2, 2022 |
| POLD1 | 3 | Jan 26, 2023 |
| POLE | 2 | Feb 18, 2022 |
| POLH | 1 | Sep 16, 2022 |
| POLR1C | 1 | Sep 16, 2022 |
| POMGNT1 | 1 | Sep 9, 2022 |
| POMT1 | 1 | Aug 5, 2022 |
| PPP2R1A | 1 | Nov 19, 2021 |
| PRKDC | 3 | Sep 1, 2023 |
| PTCH1 | 2 | Apr 29, 2022 |
| PTEN | 14 | Jan 6, 2023 |
| RAD51B | 2 | Jan 26, 2023 |
| RB1 | 6 | Jan 19, 2022 |
| RECQL4 | 3 | Sep 15, 2023 |
| RUNX1 | 1 | Oct 8, 2021 |
| RUNX1-AS1 | 1 | Oct 8, 2021 |
| SBF1 | 1 | Oct 21, 2022 |
| SBF2 | 1 | Nov 4, 2022 |
| SDHA | 1 | Mar 25, 2022 |
| SERPINB6 | 1 | Aug 19, 2022 |
| SERPINE1 | 1 | Oct 14, 2022 |
| SETD2 | 2 | Jan 21, 2022 |
| SLC1A4 | 1 | Sep 16, 2022 |
| SLC39A7 | 1 | Nov 4, 2022 |
| SMAD4 | 2 | May 6, 2022 |
| SMARCA4 | 5 | Dec 1, 2021 |
| SMARCB1 | 2 | Nov 7, 2019 |
| SMARCC1 | 1 | Nov 7, 2019 |
| SMARCD1 | 1 | Sep 8, 2023 |
| SMARCE1 | 1 | Jan 28, 2022 |
| SPOP | 2 | Feb 11, 2022 |
| STK11 | 3 | Jan 7, 2022 |
| SUFU | 1 | Mar 11, 2022 |
| TGFBR2 | 2 | Dec 24, 2021 |
| TIMM50 | 1 | Oct 28, 2022 |
| TNNT1 | 1 | May 20, 2022 |
| TP53 | 70 | Aug 11, 2023 |
| TP53BP1 | 2 | Mar 25, 2022 |
| TRMU | 1 | Aug 25, 2023 |
| TSC1 | 3 | Oct 1, 2021 |
| TSC2 | 6 | Aug 27, 2021 |
| TTC21B | 2 | Jul 29, 2022 |
| TTC7A | 1 | Aug 5, 2022 |
| TUBGCP4 | 1 | Mar 25, 2022 |
| USH1C | 1 | Jun 17, 2022 |
| VHL | 6 | Sep 27, 2023 |
| VPS13B | 2 | Aug 5, 2022 |
| VPS33B | 1 | Jun 24, 2022 |
| WDR62 | 1 | Jul 22, 2022 |
| WT1 | 1 | Mar 23, 2022 |
| XPC | 1 | Nov 19, 2021 |
| ZNF276 | 1 | Mar 23, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| not provided | 363 | Feb 28, 2024 |