Duplication | NM_001370259.2(MEN1):c.252dup (p.Ile85fs) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64577329 | 64577330 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA260457 |
Deletion | NM_001370259.2(MEN1):c.211_212del (p.Pro71fs) | MEN1 | Pathogenic | 11 | 64577370 | 64577371 | CGG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA009338 |
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.1262G>A (p.Cys421Tyr) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64572594 | 64572594 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA009105,UniProtKB:O00255#VAR_039638 |
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_001370259.2(MEN1):c.824+1G>A | MEN1 | Pathogenic | 11 | 64574650 | 64574650 | C | T | criteria provided, single submitter | OMIM:613733.0034 |
single nucleotide variant | NM_001370259.2(MEN1):c.1350+1G>A | MEN1 | Pathogenic | 11 | 64572505 | 64572505 | C | T | criteria provided, single submitter | ClinGen:CA278894,OMIM:613733.0031 |
single nucleotide variant | NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) | MEN1 | Pathogenic | 11 | 64572604 | 64572604 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA009084,UniProtKB:O00255#VAR_005461,OMIM:613733.0027 |