Deletion | NM_001370259.2(MEN1):c.1487del (p.Lys496fs) | MEN1 | Pathogenic | 11 | 64572152 | 64572152 | CT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001370259.2(MEN1):c.923C>A (p.Ser308Ter) | MEN1 | Pathogenic | 11 | 64573830 | 64573830 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001370259.2(MEN1):c.496C>T (p.Gln166Ter) | MEN1 | Pathogenic | 11 | 64575521 | 64575521 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001370259.2(MEN1):c.125G>T (p.Gly42Val) | MEN1 | Likely pathogenic | 11 | 64577457 | 64577457 | C | A | criteria provided, single submitter | - |
Deletion | NM_001370259.2(MEN1):c.734del (p.Pro245fs) | MEN1 | Pathogenic | 11 | 64575073 | 64575073 | AG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_020975.6(RET):c.268G>T (p.Glu90Ter) | RET | Pathogenic | 10 | 43596101 | 43596101 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_020975.6(RET):c.1783G>T (p.Glu595Ter) | RET | Pathogenic | 10 | 43609027 | 43609027 | G | T | criteria provided, single submitter | - |
Deletion | NM_001370259.2(MEN1):c.1670del (p.Lys557fs) | MEN1 | Pathogenic | 11 | 64571969 | 64571969 | CT | C | criteria provided, single submitter | - |
Deletion | NM_001370259.2(MEN1):c.1420del (p.Glu474fs) | MEN1 | Pathogenic | 11 | 64572219 | 64572219 | TC | T | criteria provided, single submitter | - |
Deletion | NM_001370259.2(MEN1):c.1400_1413del (p.Ala467fs) | MEN1 | Pathogenic | 11 | 64572226 | 64572239 | CCCACGGCTCCTCGG | C | criteria provided, multiple submitters, no conflicts | - |