single nucleotide variant | NM_001370259.2(MEN1):c.655-1G>A | MEN1 | Pathogenic | 11 | 64575153 | 64575153 | C | T | criteria provided, single submitter | - |
Deletion | NM_001370259.2(MEN1):c.655-15_658del | MEN1 | Likely pathogenic | 11 | 64575149 | 64575167 | CAGCTCTTAGGGGGGGATGA | C | criteria provided, single submitter | - |
Deletion | NM_001370259.2(MEN1):c.623_1050-143del | MEN1 | Pathogenic | 11 | 64573385 | 64575394 | GCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001370259.2(MEN1):c.1050-2A>G | MEN1 | Pathogenic | 11 | 64573244 | 64573244 | T | C | criteria provided, single submitter | - |
Deletion | NC_000011.10:g.(?_64804324)_(64810716_?)del | MEN1 | Pathogenic | 11 | 64571796 | 64578188 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_001370259.2(MEN1):c.446-1G>C | MEN1 | Pathogenic | 11 | 64575572 | 64575572 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001370259.2(MEN1):c.125G>C (p.Gly42Ala) | MEN1 | Pathogenic | 11 | 64577457 | 64577457 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001370259.2(MEN1):c.134A>G (p.Glu45Gly) | MEN1 | Pathogenic | 11 | 64577448 | 64577448 | T | C | criteria provided, single submitter | - |
Indel | NM_001370259.2(MEN1):c.406_415delinsTCCCT (p.Asp136fs) | MEN1 | Pathogenic | 11 | 64577167 | 64577176 | GGGCCCGATC | AGGGA | criteria provided, single submitter | - |
single nucleotide variant | NM_001370259.2(MEN1):c.495C>A (p.Cys165Ter) | MEN1 | Pathogenic | 11 | 64575522 | 64575522 | G | T | criteria provided, single submitter | - |