Variants
PMS2 variants
The 166 PMS2 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 |
|---|---|---|---|---|---|
| c.1A>G | Exon 1 | 6,009,019 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.24-12_107delinsAAAT | Exon 2 | 6,005,948 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.163+2T>C | Intron 2 | 6,005,890 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.164-2A>G | Intron 2 | 6,004,060 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.164-518_803+252delinsCG | Intron 7 | 5,997,074 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.251-2A>G | Intron 3 | 6,003,794 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.538-478_705+456del | Intron 6 | 5,998,651 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.705+1G>T | Intron 6 | 5,999,107 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.989-2A>G | Intron 9 | 5,989,957 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.989-296_1144+706del | Intron 10 | 5,989,093 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1144+2T>A | Intron 10 | 5,989,798 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2007-1G>A | Intron 11 | 5,982,992 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2174+1G>AIVS12+1G>A | Intron 12 | 5,982,823 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2276-91_2445+790del | Intron 14 | 5,976,797 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2276-113_2445+1596del | Intron 14 | 5,975,991 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| D261Mfs*46 | c.780del | Exon 7 | 5,997,348 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F788Cfs*2 | c.2361_2364del | Exon 14 | 5,977,668 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G74Vfs*3 | c.219_220dup | Exon 3 | 6,004,001 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I590Ffs*5 | c.1768del | Exon 11 | 5,986,996 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I611Nfs*2 | c.1831dup | Exon 11 | 5,986,933 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K301N | c.903G>T | Exon 8 | 5,995,534 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K580X | c.1738A>T | Exon 11 | 5,987,027 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K614X | c.1840A>T | Exon 11 | 5,986,925 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K647X | c.1939A>T | Exon 11 | 5,986,826 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K748Mfs*19 | c.2243_2246del | Exon 13 | 5,978,624 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L359Ffs*6 | c.1076dup | Exon 10 | 5,989,867 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L731Cfs*3 | c.2192_2196del | Exon 13 | 5,978,674 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N371Ifs*2 | c.1112_1113delinsTTTA | Exon 10 | 5,989,831 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P246Cfs*3 | c.736_741delinsTGTGTGTGAAG | Exon 7 | 5,997,388 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q233X | c.697C>T | Exon 6 | 5,999,116 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q235X | c.703C>T | Exon 6 | 5,999,110 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q288Vfs*10 | c.862_863del | Exon 8 | 5,995,573 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q317X | c.949C>T | Exon 9 | 5,992,012 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q643X | c.1927C>T | Exon 11 | 5,986,838 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R134X | c.400C>T | Exon 5 | 6,002,590 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R199Pfs*50 | c.593dup | Exon 6 | 5,999,219 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R287Sfs*19 | c.861_864del | Exon 8 | 5,995,572 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R315X | c.943C>T | Exon 9 | 5,992,018 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R341Gfs*15 | c.1021del | Exon 10 | 5,989,922 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R421X | c.1261C>T | Exon 11 | 5,987,504 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R578Afs*3 | c.1730dup | Exon 11 | 5,987,034 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R628X | c.1882C>T | Exon 11 | 5,986,883 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R802X | c.2404C>T | Exon 14 | 5,977,629 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S46I | c.137G>T | Exon 2 | 6,005,918 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S436Kfs*22 | c.1306dup | Exon 11 | 5,987,458 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S815L | c.2444C>T | Exon 14 | 5,977,589 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T408Lfs*40 | c.1221del | Exon 11 | 5,987,543 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y61Lfs*15 | c.182del | Exon 3 | 6,004,039 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y181X | c.543del | Exon 6 | 5,999,269 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y268Lfs*31 | c.802dup | Exon 7 | 5,997,326 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>T | Exon 1 | 6,009,019 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2T>A | Exon 1 | 6,009,018 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2T>C | Exon 1 | 6,009,018 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2T>G | Exon 1 | 6,009,018 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.23+1G>T | Intron 1 | 6,008,996 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.163+1G>T | Intron 2 | 6,005,891 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.164-1G>A | Intron 2 | 6,004,059 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.164-1G>C | Intron 2 | 6,004,059 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.251-2A>T | Intron 3 | 6,003,794 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.354-2A>G | Intron 4 | 6,002,638 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.537+1del | Intron 5 | 6,002,451 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.537+1G>A | Intron 5 | 6,002,452 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.538-1G>A | Intron 5 | 5,999,276 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.538-1G>C | Intron 5 | 5,999,276 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.538-2A>G | Intron 5 | 5,999,277 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.803+1G>A | Intron 7 | 5,997,325 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.803+1G>T | Intron 7 | 5,997,325 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.803+5G>A | Intron 7 | 5,997,321 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.804-2A>G | Intron 7 | 5,995,635 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.825A>G | Exon 8 | 5,995,612 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.903+1G>A | Intron 8 | 5,995,533 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.903+1G>C | Intron 8 | 5,995,533 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.903+2T>C | Intron 8 | 5,995,532 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.903G>A | Exon 8 | 5,995,534 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.904-2A>G | Intron 8 | 5,992,059 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.989-1G>TIVS9-1G>T | Intron 9 | 5,989,956 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1144+1G>A | Intron 10 | 5,989,799 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2007-2A>G | Intron 11 | 5,982,993 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2175-1G>C | Intron 12 | 5,978,697 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2175-2A>G | Intron 12 | 5,978,698 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2275+1G>C | Intron 13 | 5,978,595 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2275+1G>T | Intron 13 | 5,978,595 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2445+1G>A | Intron 14 | 5,977,587 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2445+1G>T | Intron 14 | 5,977,587 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C27Afs*7 | c.79del | Exon 2 | 6,005,975 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C216Gfs*34 | c.641_644dup | Exon 6 | 5,999,168 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C252X | c.756_757del | Exon 7 | 5,997,371 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C331X | c.993C>A | Exon 10 | 5,989,951 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D55Nfs*2 | c.162_163insAATT | Exon 2 | 6,005,892 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D249Vfs*2 | c.746_753del | Exon 7 | 5,997,375 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D286Vfs*10 | c.857_864del | Exon 8 | 5,995,572 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D414Rfs*44 | c.1239dup | Exon 11 | 5,987,525 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D414Tfs*34 | c.1239del | Exon 11 | 5,987,525 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D699H | c.2095G>C | Exon 12 | 5,982,903 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E81X | c.241G>T | Exon 3 | 6,003,981 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E109Gfs*30 | c.325dup | Exon 4 | 6,003,717 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E491X | c.1471G>T | Exon 11 | 5,987,294 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E518X | c.1552G>T | Exon 11 | 5,987,213 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E582Kfs*13 | c.1743del | Exon 11 | 5,987,021 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E661X | c.1981G>T | Exon 11 | 5,986,784 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |