Variants
ACVRL1 variants
The 92 ACVRL1 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 |
|---|---|---|---|---|---|
| C46S | c.137G>C | Exon 3 | 51,913,174 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C51G | c.151T>G | Exon 3 | 51,913,188 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C89F | c.266G>T | Exon 3 | 51,913,303 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C207Lfs*51 | c.620del | Exon 5 | 51,914,067 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E236K | c.706G>A | Exon 6 | 51,914,519 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H328Y | c.982C>T | Exon 7 | 51,915,434 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N98S | c.293A>G | Exon 3 | 51,913,330 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q490X | c.1468C>T | Exon 10 | 51,920,849 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R411Q | c.1232G>A | Exon 8 | 51,916,219 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S186I | c.557G>T | Exon 5 | 51,914,005 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S333I | c.998G>T | Exon 7 | 51,915,450 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W406X | c.1217G>A | Exon 8 | 51,916,204 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A49Gfs*120 | c.145dup | Exon 3 | 51,913,176 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A400D | c.1199C>A | Exon 8 | 51,916,186 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A400T | c.1198G>A | Exon 8 | 51,916,185 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A400V | c.1199C>T | Exon 8 | 51,916,186 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.61+1G>A | Intron 2 | 51,912,536 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.525+1G>A | Intron 4 | 51,913,771 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.525+1G>T | Intron 4 | 51,913,771 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.625+1G>A | Intron 5 | 51,914,074 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.626-2A>G | Intron 5 | 51,914,437 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.772+1G>C | Intron 6 | 51,914,586 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.772+5G>A | Intron 6 | 51,914,590 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1049-1G>A | Intron 7 | 51,916,035 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1377+1G>A | Intron 9 | 51,919,116 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1378-69C>A | Intron 9 | 51,920,690 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C51S | c.151T>A | Exon 3 | 51,913,188 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C51Y | c.152G>A | Exon 3 | 51,913,189 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C69F | c.206G>T | Exon 3 | 51,913,243 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C69R | c.205T>C | Exon 3 | 51,913,242 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C90X | c.270C>A | Exon 3 | 51,913,307 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C182X | c.546C>A | Exon 5 | 51,913,994 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C308X | c.924C>A | Exon 7 | 51,915,376 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C344Y | c.1031G>A | Exon 7 | 51,915,483 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C471X | c.1413C>A | Exon 10 | 51,920,794 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E159X | c.475G>T | Exon 4 | 51,913,720 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E379K | c.1135G>A | Exon 8 | 51,916,122 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E391X | c.1171G>T | Exon 8 | 51,916,158 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E407D | c.1221G>T | Exon 8 | 51,916,208 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G136Sfs*28 | c.406_409del | Exon 4 | 51,913,648 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G211D | c.632G>A | Exon 6 | 51,914,445 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G350R | c.1048G>C | Exon 7 | 51,915,500 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G416S | c.1246G>A | Exon 8 | 51,916,233 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H87Tfs*35 | c.259del | Exon 3 | 51,913,294 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I346_A347delinsT | c.1037_1039del | Exon 7 | 51,915,488 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I346Rfs*44 | c.1036_1040del | Exon 7 | 51,915,485 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K25Sfs*10 | c.72_79del | Exon 3 | 51,913,106 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L138Gfs*30 | c.412_413del | Exon 4 | 51,913,656 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L273P | c.818T>C | Exon 7 | 51,915,270 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L285F | c.853C>T | Exon 7 | 51,915,305 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L489P | c.1466T>C | Exon 10 | 51,920,847 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M438T | c.1313T>C | Exon 9 | 51,919,051 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N96D | c.286A>G | Exon 3 | 51,913,323 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P23Lfs*2 | c.68del | Exon 3 | 51,913,102 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P378S | c.1132C>T | Exon 8 | 51,916,119 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P449L | c.1346C>T | Exon 9 | 51,919,084 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P452L | c.1355C>T | Exon 9 | 51,919,093 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P476R | c.1427C>G | Exon 10 | 51,920,808 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q169X | c.505C>T | Exon 4 | 51,913,750 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q201X | c.601C>T | Exon 5 | 51,914,049 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q321X | c.961C>T | Exon 7 | 51,915,413 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q357X | c.1069C>T | Exon 8 | 51,916,056 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q384X | c.1150C>T | Exon 8 | 51,916,137 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R47P | c.140G>C | Exon 3 | 51,913,177 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R47Pfs*8 | c.139_140insCG | Exon 3 | 51,913,176 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R61Sfs*61 | c.183del | Exon 3 | 51,913,218 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R67Q | c.200G>A | Exon 3 | 51,913,237 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R67W | c.199C>T | Exon 3 | 51,913,236 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R144X | c.430C>T | Exon 4 | 51,913,675 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R291Tfs*100 | c.872_873del | Exon 7 | 51,915,320 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R374Q | c.1121G>A | Exon 8 | 51,916,108 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R374W | c.1120C>T | Exon 8 | 51,916,107 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R411W | c.1231C>T | Exon 8 | 51,916,218 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R479Q | c.1436G>A | Exon 10 | 51,920,817 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R479X | c.1435C>T | Exon 10 | 51,920,816 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R484Q | c.1451G>A | Exon 10 | 51,920,832 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R484W | c.1450C>T | Exon 10 | 51,920,831 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S225Cfs*11 | c.673_674del | Exon 6 | 51,914,482 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S233del | c.696_698del | Exon 6 | 51,914,505 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S233L | c.698C>T | Exon 6 | 51,914,511 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S305F | c.914C>T | Exon 7 | 51,915,366 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T197I | c.590C>T | Exon 5 | 51,914,038 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T248Sfs*143 | c.743_744del | Exon 6 | 51,914,552 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T277K | c.830C>A | Exon 7 | 51,915,282 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T277R | c.830C>G | Exon 7 | 51,915,282 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T372I | c.1115C>T | Exon 8 | 51,916,102 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V442A | c.1325T>C | Exon 9 | 51,919,063 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W50R | c.148T>C | Exon 3 | 51,913,185 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W217X | c.651G>A | Exon 6 | 51,914,464 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W274X | c.822G>A | Exon 7 | 51,915,274 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W472X | c.1415G>A | Exon 10 | 51,920,796 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y375X | c.1121_1124dup | Exon 8 | 51,916,107 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |