Variants
BTD variants
The 112 BTD 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 |
|---|---|---|---|---|---|
| A142V | c.425C>T | Exon 4 | 15,644,341 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A217T | c.649G>A | Exon 4 | 15,644,565 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A269V | c.806C>T | Exon 4 | 15,644,722 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A279P | c.835G>C | Exon 4 | 15,644,751 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A419D | c.1256C>A | Exon 4 | 15,645,172 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A458P | c.1372G>C | Exon 4 | 15,645,288 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.-17+1G>A | Intron 1 | 15,601,895 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.-17+2T>C | Intron 1 | 15,601,896 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.250-15del | Intron 2 | 15,641,892 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.359G>A | Exon 3 | 15,642,017 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.399G>A | Exon 3 | 15,642,057 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C13Ffs*36 | c.38_44delinsTCC | Exon 2 | 15,635,477 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C15Lfs*16 | c.44_45del | Exon 2 | 15,635,481 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C140F | c.419G>T | Exon 4 | 15,644,335 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C140Y | c.419G>A | Exon 4 | 15,644,335 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C166G | c.496T>G | Exon 4 | 15,644,412 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C166Y | c.497G>A | Exon 4 | 15,644,413 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C225Y | c.674G>A | Exon 4 | 15,644,590 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C398R | c.1192T>C | Exon 4 | 15,645,108 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C398S | c.1193G>C | Exon 4 | 15,645,109 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C403R | c.1207T>C | Exon 4 | 15,645,123 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C404S | c.1211G>C | Exon 4 | 15,645,127 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C404Y | c.1211G>A | Exon 4 | 15,645,127 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D232G | c.695A>G | Exon 4 | 15,644,611 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D424Y | c.1270G>T | Exon 4 | 15,645,186 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D523E | c.1569C>A | Exon 4 | 15,645,485 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D523V | c.1568A>T | Exon 4 | 15,645,484 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E26X | c.76G>T | Exon 2 | 15,635,515 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E92K | c.274G>A | Exon 3 | 15,641,932 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E92Q | c.274G>C | Exon 3 | 15,641,932 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E198D | c.594G>C | Exon 4 | 15,644,510 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E416Afs*8 | c.1247_1248del | Exon 4 | 15,645,160 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E463X | c.1387G>T | Exon 4 | 15,645,303 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F111Lfs*28 | c.333del | Exon 3 | 15,641,990 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F174L | c.522C>G | Exon 4 | 15,644,438 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G14S | c.40G>A | Exon 2 | 15,635,479 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G14Vfs*35 | c.41_44del | Exon 2 | 15,635,478 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G21Pfs*12 | c.56_59dup | Exon 2 | 15,635,494 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G94V | c.281G>T | Exon 3 | 15,641,939 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G347Qfs*23 | c.1036_1037dup | Exon 4 | 15,644,951 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G431Dfs*32 | c.1292_1293del | Exon 4 | 15,645,207 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G483Dfs*6 | c.1448_1452del | Exon 4 | 15,645,362 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H193Tfs*51 | c.577del | Exon 4 | 15,644,492 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H311Lfs*29 | c.932_941del | Exon 4 | 15,644,847 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H427Y | c.1279C>T | Exon 4 | 15,645,195 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H465Q | c.1395C>G | Exon 4 | 15,645,311 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I228T | c.683T>C | Exon 4 | 15,644,599 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I235T | c.704T>C | Exon 4 | 15,644,620 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I314Sfs*19 | c.941_942del | Exon 4 | 15,644,856 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I344Nfs*9 | c.1030dup | Exon 4 | 15,644,941 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K156N | c.468G>T | Exon 4 | 15,644,384 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L20P | c.59T>C | Exon 2 | 15,635,498 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L135P | c.404T>C | Exon 4 | 15,644,320 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L195F | c.583C>T | Exon 4 | 15,644,499 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L258P | c.773T>C | Exon 4 | 15,644,689 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L258V | c.772C>G | Exon 4 | 15,644,688 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L385P | c.1154T>C | Exon 4 | 15,645,070 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L402Pfs*23 | c.1204dup | Exon 4 | 15,645,118 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L478Ffs*13 | c.1433dup | Exon 4 | 15,645,346 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N175D | c.523A>G | Exon 4 | 15,644,439 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N469S | c.1406A>G | Exon 4 | 15,645,322 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P122T | c.364C>A | Exon 3 | 15,642,022 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P167Qfs*77 | c.500del | Exon 4 | 15,644,413 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P167S | c.499C>T | Exon 4 | 15,644,415 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P233L | c.698C>T | Exon 4 | 15,644,614 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P477S | c.1429C>T | Exon 4 | 15,645,345 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q86X | c.256C>T | Exon 3 | 15,641,914 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q116Rfs*23 | c.346del | Exon 3 | 15,642,000 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q136X | c.406C>T | Exon 4 | 15,644,322 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q316X | c.946C>T | Exon 4 | 15,644,862 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q436H | c.1308A>C | Exon 4 | 15,645,224 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R59C | c.175C>T | Exon 2 | 15,635,614 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R59H | c.176G>A | Exon 2 | 15,635,615 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R128H | c.383G>A | Exon 3 | 15,642,041 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R137C | c.409C>T | Exon 4 | 15,644,325 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R137H | c.410G>A | Exon 4 | 15,644,326 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R144Gfs*100 | c.430del | Exon 4 | 15,644,345 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R189C | c.565C>T | Exon 4 | 15,644,481 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R189H | c.566G>A | Exon 4 | 15,644,482 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R191H | c.572G>A | Exon 4 | 15,644,488 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R442Gfs*39 | c.1324del | Exon 4 | 15,645,239 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R502Gfs*10 | c.1503del | Exon 4 | 15,645,418 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R518C | c.1552C>T | Exon 4 | 15,645,468 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R518H | c.1553G>A | Exon 4 | 15,645,469 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R518S | c.1552C>A | Exon 4 | 15,645,468 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S291N | c.872G>A | Exon 4 | 15,644,788 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S291Rfs*23 | c.873del | Exon 4 | 15,644,788 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T24Rfs*7 | c.70_71del | Exon 2 | 15,635,505 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T176Kfs*68 | c.527del | Exon 4 | 15,644,442 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T214I | c.641C>T | Exon 4 | 15,644,557 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T331Kfs*12 | c.992del | Exon 4 | 15,644,907 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T334Rfs*9 | c.1000del | Exon 4 | 15,644,913 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T512M | c.1535C>T | Exon 4 | 15,645,451 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V42M | c.124G>A | Exon 2 | 15,635,563 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V179M | c.535G>A | Exon 4 | 15,644,451 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V422Sfs*59 | c.1264del | Exon 4 | 15,645,175 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W120X | c.360G>A | Exon 3 | 15,642,018 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W252G | c.754T>G | Exon 4 | 15,644,670 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W252X | c.755G>A | Exon 4 | 15,644,671 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W366X | c.1098G>A | Exon 4 | 15,645,014 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |