Deletion | NM_001370259.2(MEN1):c.649_654+2del | MEN1 | Likely pathogenic | 11 | 64575361 | 64575368 | TACCCGCTC | T | criteria provided, single submitter | ClinGen:CA260470 |
Insertion | NM_001370259.2(MEN1):c.465_466insAATT (p.Gly156fs) | MEN1 | Likely pathogenic | 11 | 64575551 | 64575552 | C | CAATT | criteria provided, single submitter | ClinGen:CA009428 |
single nucleotide variant | NM_001370259.2(MEN1):c.417C>G (p.His139Gln) | MEN1 | Likely pathogenic | 11 | 64577165 | 64577165 | G | C | criteria provided, single submitter | ClinGen:CA009417 |
Duplication | NM_001370259.2(MEN1):c.1174dup (p.Glu392fs) | MEN1 | Likely pathogenic | 11 | 64573117 | 64573118 | T | TC | criteria provided, single submitter | ClinGen:CA260440 |
Deletion | NM_001370259.2(MEN1):c.1063del (p.Arg355fs) | MEN1 | Likely pathogenic | 11 | 64573229 | 64573229 | CG | C | criteria provided, single submitter | ClinGen:CA009011 |
Duplication | NM_001370259.2(MEN1):c.1013dup (p.Gln339fs) | MEN1 | Likely pathogenic | 11 | 64573739 | 64573740 | C | CA | criteria provided, single submitter | ClinGen:CA260439 |
single nucleotide variant | NM_020975.6(RET):c.2711C>T (p.Ser904Phe) | RET | Likely pathogenic | 10 | 43615632 | 43615632 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA009027 |
Indel | NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer) | RET | Likely pathogenic | 10 | 43610046 | 43610046 | G | TTCT | criteria provided, single submitter | - |
single nucleotide variant | NM_020975.6(RET):c.1831T>C (p.Cys611Arg) | RET | Likely pathogenic | 10 | 43609075 | 43609075 | T | C | criteria provided, single submitter | ClinGen:CA007873,UniProtKB:P07949#VAR_009473 |
single nucleotide variant | NM_020975.6(RET):c.1817A>G (p.Tyr606Cys) | RET | Likely pathogenic | 10 | 43609061 | 43609061 | A | G | criteria provided, single submitter | ClinGen:CA007781 |