Deletion | NM_001370259.2(MEN1):c.1334del (p.Gly445fs) | MEN1 | Pathogenic | 11 | 64572522 | 64572522 | GC | G | criteria provided, single submitter | - |
Deletion | NM_001370259.2(MEN1):c.1351-2_*132del | MEN1 | Pathogenic | 11 | 64571674 | 64572290 | CGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCT | C | criteria provided, single submitter | - |
Duplication | NM_001370259.2(MEN1):c.1311dup (p.Thr438fs) | MEN1 | Likely pathogenic | 11 | 64572544 | 64572545 | T | TG | criteria provided, single submitter | - |
single nucleotide variant | NM_001370259.2(MEN1):c.1049+2T>C | MEN1 | Likely pathogenic | 11 | 64573702 | 64573702 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp) | MEN1 | Pathogenic | 11 | 64573189 | 64573189 | G | T | criteria provided, single submitter | - |
Duplication | NM_001370259.2(MEN1):c.332dup (p.Val112fs) | MEN1 | Pathogenic | 11 | 64577249 | 64577250 | A | AC | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_001370259.2(MEN1):c.1247dup (p.Tyr417fs) | MEN1 | Pathogenic | 11 | 64572608 | 64572609 | G | GA | criteria provided, single submitter | - |
single nucleotide variant | NM_001370259.2(MEN1):c.378G>A (p.Trp126Ter) | MEN1 | Pathogenic | 11 | 64577204 | 64577204 | C | T | criteria provided, single submitter | ClinGen:CA381187290 |
Deletion | NM_001370259.2(MEN1):c.823del (p.Arg275fs) | MEN1 | Pathogenic | 11 | 64574652 | 64574652 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658797670 |
Deletion | NM_001370259.2(MEN1):c.142del (p.Leu48fs) | MEN1 | Pathogenic | 11 | 64577440 | 64577440 | AG | A | criteria provided, single submitter | ClinGen:CA658797665 |