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: 440
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC4 | 2 | Aug 14, 2025 |
| ABHD12 | 1 | Aug 14, 2025 |
| ACADM | 3 | Aug 14, 2025 |
| ACADVL | 3 | Aug 14, 2025 |
| ACOX1 | 1 | Aug 14, 2025 |
| ACTB | 1 | Aug 14, 2025 |
| ADA | 1 | Aug 14, 2025 |
| ADAMTS13 | 1 | Aug 14, 2025 |
| AHI1 | 1 | Aug 14, 2025 |
| AJUBA | 1 | Aug 14, 2025 |
| APC | 1 | Aug 13, 2025 |
| ARFGEF1 | 1 | Aug 14, 2025 |
| ARID1A | 7 | Aug 14, 2025 |
| ARID1B | 2 | Aug 14, 2025 |
| ARID2 | 2 | Aug 14, 2025 |
| ARID4B | 1 | Aug 14, 2025 |
| ARPC1B | 1 | Aug 14, 2025 |
| ASS1 | 1 | Aug 14, 2025 |
| ASXL1 | 2 | Aug 14, 2025 |
| ATM | 1 | Aug 13, 2025 |
| ATRX | 5 | Aug 14, 2025 |
| B2M | 4 | Aug 14, 2025 |
| BAP1 | 3 | Aug 14, 2025 |
| BCAT2 | 1 | Aug 14, 2025 |
| BCKDK | 1 | Aug 14, 2025 |
| BCL7C | 1 | Aug 14, 2025 |
| BCOR | 1 | Aug 14, 2025 |
| BRCA1 | 3 | Aug 14, 2025 |
| BRIP1 | 1 | Aug 14, 2025 |
| CACNA1D | 1 | Aug 14, 2025 |
| CASP8 | 1 | Aug 14, 2025 |
| CBL | 1 | Aug 14, 2025 |
| CC2D1A | 2 | Aug 14, 2025 |
| CDC73 | 1 | Aug 14, 2025 |
| CDH1 | 5 | Aug 14, 2025 |
| CDKN1A | 1 | Aug 13, 2025 |
| CDKN1B | 2 | Aug 14, 2025 |
| CDKN2A | 10 | Aug 14, 2025 |
| CDKN2C | 1 | Aug 13, 2025 |
| CHD2 | 2 | Aug 14, 2025 |
| CLPP | 1 | Aug 14, 2025 |
| CNNM4 | 1 | Aug 14, 2025 |
| CPT1A | 1 | Aug 14, 2025 |
| CREBBP | 2 | Aug 14, 2025 |
| CSPP1 | 2 | Aug 14, 2025 |
| CTCF | 2 | Aug 14, 2025 |
| CTNNA1 | 1 | Aug 14, 2025 |
| CUL3 | 2 | Aug 14, 2025 |
| CYLD | 1 | Aug 14, 2025 |
| CYLD-AS2 | 1 | Aug 14, 2025 |
| DDB2 | 1 | Aug 14, 2025 |
| DDX3X | 2 | Aug 14, 2025 |
| DHTKD1 | 1 | Aug 14, 2025 |
| DIPK1A | 2 | Aug 14, 2025 |
| DIS3 | 2 | Aug 14, 2025 |
| DLD | 1 | Aug 14, 2025 |
| DNAH5 | 2 | Aug 14, 2025 |
| DNAJC19 | 1 | Aug 14, 2025 |
| DNMT3A | 4 | Aug 14, 2025 |
| ECHS1 | 2 | Aug 14, 2025 |
| EP300 | 4 | Aug 14, 2025 |
| EPCAM | 1 | Aug 14, 2025 |
| EPS8L2 | 1 | Aug 14, 2025 |
| ERCC2 | 1 | Aug 14, 2025 |
| ERCC3 | 1 | Aug 14, 2025 |
| ERCC4 | 1 | Aug 14, 2025 |
| ETFDH | 1 | Aug 14, 2025 |
| EZH2 | 1 | Aug 14, 2025 |
| FAH | 1 | Aug 14, 2025 |
| FANCA | 2 | Aug 14, 2025 |
| FAS | 1 | Aug 14, 2025 |
| FAT1 | 4 | Aug 14, 2025 |
| FGD4 | 1 | Aug 14, 2025 |
| FH | 1 | Aug 14, 2025 |
| FKTN | 1 | Aug 14, 2025 |
| FLAD1 | 2 | Aug 14, 2025 |
| FNIP1 | 1 | Aug 14, 2025 |
| FUBP1 | 1 | Aug 14, 2025 |
| GAA | 1 | Aug 14, 2025 |
| GLUL | 2 | Aug 14, 2025 |
| GPS2 | 1 | Aug 14, 2025 |
| GPSM2 | 1 | Aug 14, 2025 |
| GPT2 | 1 | Aug 14, 2025 |
| GSS | 1 | Aug 14, 2025 |
| HADHA | 1 | Aug 14, 2025 |
| HEXA | 4 | Aug 14, 2025 |
| HLA-A | 6 | Aug 14, 2025 |
| HLA-B | 9 | Aug 14, 2025 |
| HLA-C | 2 | Aug 14, 2025 |
| HNF1A | 1 | Aug 14, 2025 |
| HPS4 | 1 | Aug 14, 2025 |
| IFNGR1 | 1 | Aug 14, 2025 |
| INPP5E | 1 | Aug 14, 2025 |
| INPPL1 | 2 | Aug 14, 2025 |
| INTS6 | 1 | Aug 14, 2025 |
| IRF1 | 2 | Aug 14, 2025 |
| IRF2 | 1 | Aug 14, 2025 |
| KDM5C | 1 | Aug 14, 2025 |
| KDM6A | 5 | Aug 14, 2025 |
| KEAP1 | 4 | Aug 14, 2025 |
| KLF3 | 2 | Aug 14, 2025 |
| KLF6 | 2 | Aug 14, 2025 |
| KMT2A | 1 | Aug 14, 2025 |
| KMT2B | 4 | Aug 14, 2025 |
| KMT2C | 3 | Aug 14, 2025 |
| KMT2D | 5 | Aug 14, 2025 |
| KYNU | 1 | Aug 14, 2025 |
| LAMB1 | 1 | Aug 14, 2025 |
| LARS2 | 1 | Aug 14, 2025 |
| LOC107303340 | 4 | Aug 14, 2025 |
| LOC126805670 | 1 | Aug 14, 2025 |
| LOC126805944 | 1 | Aug 14, 2025 |
| LOC126806211 | 1 | Aug 14, 2025 |
| LOC126807242 | 1 | Aug 14, 2025 |
| LOC126807255 | 1 | Aug 14, 2025 |
| LOC126807508 | 1 | Aug 14, 2025 |
| LOC132090445 | 1 | Aug 14, 2025 |
| LPIN1 | 1 | Aug 14, 2025 |
| LRPPRC | 1 | Aug 14, 2025 |
| LZTR1 | 1 | Aug 14, 2025 |
| MAP2K4 | 1 | Aug 14, 2025 |
| MAP3K1 | 2 | Aug 14, 2025 |
| MBD6 | 1 | Aug 14, 2025 |
| MCCC2 | 1 | Aug 14, 2025 |
| MED23 | 3 | Aug 14, 2025 |
| MEN1 | 1 | Aug 14, 2025 |
| MET | 5 | Aug 13, 2025 |
| MFSD8 | 1 | Aug 14, 2025 |
| MGA | 1 | Aug 14, 2025 |
| MIR6891 | 2 | Aug 14, 2025 |
| MIR762HG | 1 | Aug 14, 2025 |
| MMAB | 1 | Aug 14, 2025 |
| MOGS | 1 | Aug 14, 2025 |
| MSH2 | 3 | Aug 14, 2025 |
| MTHFR | 1 | Aug 14, 2025 |
| NBEAL2 | 1 | Aug 14, 2025 |
| NBN | 1 | Aug 14, 2025 |
| NCOR1 | 1 | Aug 14, 2025 |
| NDUFS2 | 3 | Aug 14, 2025 |
| NDUFS4 | 1 | Aug 14, 2025 |
| NF1 | 6 | Aug 14, 2025 |
| NF2 | 2 | Aug 14, 2025 |
| NGLY1 | 1 | Aug 14, 2025 |
| PALB2 | 1 | Aug 13, 2025 |
| PEX6 | 1 | Aug 14, 2025 |
| PIK3R1 | 4 | Aug 14, 2025 |
| PLG | 1 | Aug 14, 2025 |
| PMS2 | 1 | Aug 13, 2025 |
| PNKP | 2 | Aug 14, 2025 |
| POLD1 | 3 | Aug 14, 2025 |
| POLE | 2 | Aug 14, 2025 |
| POLH | 1 | Aug 14, 2025 |
| POLR1C | 1 | Aug 14, 2025 |
| POMGNT1 | 1 | Aug 14, 2025 |
| POMT1 | 1 | Aug 14, 2025 |
| PPP2R1A | 1 | Aug 14, 2025 |
| PPP6C | 1 | Aug 14, 2025 |
| PRKDC | 3 | Aug 14, 2025 |
| PTCH1 | 2 | Aug 14, 2025 |
| PTEN | 14 | Aug 14, 2025 |
| PTPN13 | 1 | Aug 14, 2025 |
| QKI | 1 | Aug 14, 2025 |
| RAD51B | 2 | Aug 14, 2025 |
| RASA1 | 1 | Aug 14, 2025 |
| RB1 | 6 | Aug 14, 2025 |
| RBM10 | 2 | Aug 14, 2025 |
| RECQL4 | 3 | Aug 14, 2025 |
| RNF43 | 1 | Aug 14, 2025 |
| RPL5 | 2 | Aug 14, 2025 |
| RUNX1 | 1 | Aug 14, 2025 |
| RUNX1-AS1 | 1 | Aug 14, 2025 |
| SBF1 | 1 | Aug 14, 2025 |
| SBF2 | 1 | Aug 14, 2025 |
| SDHA | 1 | Aug 14, 2025 |
| SERPINB6 | 1 | Aug 14, 2025 |
| SERPINE1 | 1 | Aug 14, 2025 |
| SETD2 | 2 | Aug 14, 2025 |
| SLC1A4 | 1 | Aug 14, 2025 |
| SLC39A7 | 1 | Aug 14, 2025 |
| SMAD3 | 1 | Aug 14, 2025 |
| SMAD4 | 2 | Aug 14, 2025 |
| SMARCA4 | 5 | Aug 14, 2025 |
| SMARCB1 | 2 | Aug 13, 2025 |
| SMARCC1 | 1 | Aug 13, 2025 |
| SMARCD1 | 1 | Aug 14, 2025 |
| SMARCE1 | 1 | Aug 14, 2025 |
| SMC3 | 1 | Aug 14, 2025 |
| SPOP | 2 | Aug 14, 2025 |
| STK11 | 3 | Aug 14, 2025 |
| SUFU | 1 | Aug 14, 2025 |
| TBX3 | 1 | Aug 14, 2025 |
| TET3 | 1 | Aug 14, 2025 |
| TGFBR2 | 2 | Aug 14, 2025 |
| TIMM50 | 1 | Aug 14, 2025 |
| TM2D3 | 1 | Aug 14, 2025 |
| TNNT1 | 1 | Aug 14, 2025 |
| TP53 | 70 | Aug 14, 2025 |
| TP53BP1 | 2 | Aug 14, 2025 |
| TRMU | 1 | Aug 14, 2025 |
| TSC1 | 3 | Aug 14, 2025 |
| TSC2 | 6 | Aug 14, 2025 |
| TTC21B | 2 | Aug 14, 2025 |
| TTC7A | 1 | Aug 14, 2025 |
| TUBGCP4 | 1 | Aug 14, 2025 |
| USH1C | 1 | Aug 14, 2025 |
| VHL | 6 | Aug 14, 2025 |
| VPS13B | 2 | Aug 14, 2025 |
| VPS33B | 1 | Aug 14, 2025 |
| WDR62 | 1 | Aug 14, 2025 |
| WT1 | 1 | Aug 14, 2025 |
| XPC | 1 | Aug 14, 2025 |
| ZNF276 | 1 | Aug 14, 2025 |
| ZNRF3 | 2 | Aug 14, 2025 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| not provided | 440 | Aug 14, 2025 |