Variants
MEN1 variants
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.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A176P | c.526G>C | Exon 3 | 64,808,019 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A242Hfs*6 | c.723_724del | Exon 4 | 64,807,610 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A242V | c.725C>T | Exon 4 | 64,807,610 | Pathogenic/likely 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.1A>G | Exon 2 | 64,810,109 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1A>T | Exon 2 | 64,810,109 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3G>A | Exon 2 | 64,810,107 | Pathogenic/likely 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 | |
| c.445+1G>T | Intron 2 | 64,809,664 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.446-2A>C | Intron 2 | 64,808,101 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.446-2A>G | Intron 2 | 64,808,101 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.654+1G>T | Intron 3 | 64,807,890 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.655-1G>C | Intron 3 | 64,807,681 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.783+1G>A | Intron 4 | 64,807,551 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.783+1G>C | Intron 4 | 64,807,551 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.784-9G>A | Intron 4 | 64,807,228 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.912+1G>A | Intron 6 | 64,807,010 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.913-1G>A | Intron 6 | 64,806,369 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1049+1G>A | Intron 7 | 64,806,231 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1049+2T>C | Intron 7 | 64,806,230 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1306T>C | Exon 9 | 64,805,078 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1350+1_1350+11del | Intron 9 | 64,805,022 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1351-2A>C | Intron 9 | 64,804,818 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1351-2A>G | Intron 9 | 64,804,818 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C241R | c.721T>C | Exon 4 | 64,807,614 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C421Y | c.1262G>A | Exon 9 | 64,805,122 | Pathogenic/likely 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 |
| D153V | c.458A>T | Exon 3 | 64,808,087 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D350V | c.1049A>T | Exon 7 | 64,806,232 | Likely 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 |
| D418N | c.1252G>A | Exon 9 | 64,805,132 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E45D | c.135G>C | Exon 2 | 64,809,975 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E45K | c.133G>A | Exon 2 | 64,809,977 | Pathogenic/likely 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 |
| E363del | c.1087_1089del | Exon 8 | 64,805,730 | Pathogenic/likely 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 |
| E477X | c.1429G>T | Exon 10 | 64,804,738 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E486X | c.1456G>T | Exon 10 | 64,804,711 | 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 |
| F447S | c.1340T>C | Exon 9 | 64,805,044 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G156R | c.466G>C | Exon 3 | 64,808,079 | 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 |
| G225R | c.673G>A | Exon 4 | 64,807,662 | Likely 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 |
| H139Q | c.417C>A | Exon 2 | 64,809,693 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H181R | c.542A>G | Exon 3 | 64,808,003 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H317Y | c.949C>T | Exon 7 | 64,806,332 | Pathogenic/likely 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 |
| I348N | c.1043T>A | Exon 7 | 64,806,238 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K120del | c.358_360del | Exon 2 | 64,809,749 | 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 |
| K557del | c.1670_1672del | Exon 10 | 64,804,494 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L3X | c.6del | Exon 2 | 64,810,103 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L22R | c.65T>G | Exon 2 | 64,810,045 | 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 |
| L168P | c.503T>C | Exon 3 | 64,808,042 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L223P | c.668T>C | Exon 4 | 64,807,667 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L264P | c.791T>C | Exon 5 | 64,807,212 | Pathogenic/likely 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 |
| P12R | c.35C>G | Exon 2 | 64,810,075 | Likely 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 |
| P277H | c.830C>A | Exon 6 | 64,807,093 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q96X | c.286C>T | Exon 2 | 64,809,824 | 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 |
| Q258X | c.772C>T | Exon 4 | 64,807,563 | 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 |
| Q349X | c.1045C>T | Exon 7 | 64,806,236 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q400X | c.1198C>T | Exon 9 | 64,805,186 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q450H | c.1350G>C | Exon 9 | 64,805,034 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q453X | c.1357C>T | Exon 10 | 64,804,810 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q578X | c.1732C>T | Exon 10 | 64,804,435 | 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 |
| R415X | c.1243C>T | Exon 9 | 64,805,141 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R460X | c.1378C>T | Exon 10 | 64,804,789 | 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 |
| R527X | c.1579C>T | Exon 10 | 64,804,588 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S38F | c.113C>T | Exon 2 | 64,809,997 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S253X | c.758C>A | Exon 4 | 64,807,577 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S555N | c.1664G>A | Exon 10 | 64,804,503 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S572X | c.1715C>A | Exon 10 | 64,804,452 | 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 |
| V215M | c.643G>A | Exon 3 | 64,807,902 | Pathogenic/likely 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 |
| W183X | c.548G>A | Exon 3 | 64,807,997 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W198X | c.594G>A | Exon 3 | 64,807,951 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W341X | c.1022G>A | Exon 7 | 64,806,259 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W436C | c.1308G>T | Exon 9 | 64,805,076 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W436R | c.1306T>A | Exon 9 | 64,805,078 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |