single nucleotide variant | NM_001370259.2(MEN1):c.1A>T (p.Met1Leu) | MEN1 | Pathogenic | 11 | 64577581 | 64577581 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA381188344 |
single nucleotide variant | NM_001370259.2(MEN1):c.1A>G (p.Met1Val) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64577581 | 64577581 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA009318 |
single nucleotide variant | NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64577579 | 64577579 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA009394 |
Deletion | NM_001370259.2(MEN1):c.16_17del (p.Ala6fs) | MEN1 | Pathogenic | 11 | 64577565 | 64577566 | GGC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369576 |
single nucleotide variant | NM_001370259.2(MEN1):c.35C>T (p.Pro12Leu) | MEN1 | Likely pathogenic | 11 | 64577547 | 64577547 | G | A | criteria provided, single submitter | ClinGen:CA009390,UniProtKB:O00255#VAR_005425 |
Deletion | NM_001370259.2(MEN1):c.55del (p.Val19fs) | MEN1 | Pathogenic | 11 | 64577527 | 64577527 | AC | A | criteria provided, single submitter | ClinGen:CA009473 |
Insertion | NM_001370259.2(MEN1):c.57_58insT (p.Val20fs) | MEN1 | Pathogenic | 11 | 64577524 | 64577525 | C | CA | criteria provided, single submitter | ClinGen:CA009493 |
single nucleotide variant | NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64577517 | 64577517 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA009546,UniProtKB:O00255#VAR_005426,OMIM:613733.0001 |
single nucleotide variant | NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64577506 | 64577506 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA009584,UniProtKB:O00255#VAR_005427,OMIM:613733.0013 |
single nucleotide variant | NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter) | MEN1 | Pathogenic | 11 | 64577497 | 64577497 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA009645 |