single nucleotide variant | NM_001370259.2(MEN1):c.514G>T (p.Asp172Tyr) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64575503 | 64575503 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA381186018 |
single nucleotide variant | NM_001370259.2(MEN1):c.446-2A>G | MEN1 | Pathogenic | 11 | 64575573 | 64575573 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA381186358 |
Indel | NM_001370259.2(MEN1):c.431_432delinsAA (p.Phe144Ter) | MEN1 | Pathogenic | 11 | 64577150 | 64577151 | GA | TT | criteria provided, single submitter | ClinGen:CA645369508 |
Indel | NM_001370259.2(MEN1):c.429_432delinsATT (p.Phe144fs) | MEN1 | Pathogenic | 11 | 64577150 | 64577153 | GAAG | AAT | criteria provided, single submitter | ClinGen:CA645369509 |
Deletion | NM_001370259.2(MEN1):c.417del (p.His139fs) | MEN1 | Pathogenic | 11 | 64577165 | 64577165 | TG | T | criteria provided, single submitter | ClinGen:CA645369510 |
single nucleotide variant | NM_001370259.2(MEN1):c.416A>G (p.His139Arg) | MEN1 | Pathogenic | 11 | 64577166 | 64577166 | T | C | criteria provided, single submitter | ClinGen:CA381186797 |
Deletion | NM_001370259.2(MEN1):c.378del (p.Ile125_Trp126insTer) | MEN1 | Pathogenic | 11 | 64577204 | 64577204 | TC | T | criteria provided, single submitter | ClinGen:CA475163318 |
Deletion | NM_001370259.2(MEN1):c.336del (p.Ser113fs) | MEN1 | Pathogenic | 11 | 64577246 | 64577246 | AG | A | criteria provided, single submitter | ClinGen:CA645369559 |
Deletion | NM_001370259.2(MEN1):c.273_276del (p.Arg92fs) | MEN1 | Pathogenic | 11 | 64577306 | 64577309 | AGCGG | A | criteria provided, single submitter | ClinGen:CA645369560 |
single nucleotide variant | NM_001370259.2(MEN1):c.270T>A (p.Tyr90Ter) | MEN1 | Pathogenic | 11 | 64577312 | 64577312 | A | T | criteria provided, single submitter | ClinGen:CA381187515 |