Variants
MEN1 variants
Predicted effect: Frameshift. 33 of the 103 MEN1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A242Hfs*6 | c.723_724del | Exon 4 | 64,807,610 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A380Sfs*29 | c.1136dup | Exon 8 | 64,805,683 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A467Gfs*59 | c.1400_1413del | Exon 10 | 64,804,753 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A467Rfs*98 | c.1375_1391dup | Exon 10 | 64,804,775 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.196_200dup | Exon 2 | 64,809,909 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| D70Pfs*51 | c.202_206dup | Exon 2 | 64,809,903 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D418Afs*26 | c.1253_1256del | Exon 9 | 64,805,127 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E336Gfs*31 | c.1006dup | Exon 7 | 64,806,274 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E392Sfs*53 | c.1174del | Exon 8 | 64,805,645 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F134Lfs*51 | c.402del | Exon 2 | 64,809,707 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G202Afs*22 | c.605del | Exon 3 | 64,807,939 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G401Vfs*44 | c.1202del | Exon 9 | 64,805,181 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G531Vfs*28 | c.1590del | Exon 10 | 64,804,576 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H139Pfs*46 | c.416del | Exon 2 | 64,809,693 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I85Sfs*33 | c.249_252del | Exon 2 | 64,809,857 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I85Yfs*32 | c.252dup | Exon 2 | 64,809,857 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K517Efs*14 | c.1548dup | Exon 10 | 64,804,618 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L103Cfs*16 | c.307del | Exon 2 | 64,809,802 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L266Cfs*15 | c.796del | Exon 5 | 64,807,206 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N374Tfs*3 | c.1119del | Exon 8 | 64,805,700 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P71Afs*45 | c.211_212del | Exon 2 | 64,809,897 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q209Rfs*15 | c.625del | Exon 3 | 64,807,919 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q339Afs*28 | c.1013dup | Exon 7 | 64,806,267 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R14Lfs*105 | c.41_42delinsT | Exon 2 | 64,810,068 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R92Afs*27 | c.274del | Exon 2 | 64,809,835 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R108Sfs*9 | c.320dup | Exon 2 | 64,809,789 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R479Gfs*78 | c.1435_1441del | Exon 10 | 64,804,725 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R516Gfs*43 | c.1546del | Exon 10 | 64,804,620 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R516Pfs*15 | c.1546dup | Exon 10 | 64,804,620 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T210Sfs*13 | c.628_631del | Exon 3 | 64,807,913 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V80Wfs*39 | c.238del | Exon 2 | 64,809,871 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V537Cfs*22 | c.1609del | Exon 10 | 64,804,557 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W126Mfs*54 | c.374dup | Exon 2 | 64,809,735 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |