Variants
IDUA variants
The 128 IDUA 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 |
|---|---|---|---|---|---|
| A75T | c.223G>A | Exon 2 | 987,873 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A79V | c.236C>T | Exon 2 | 987,886 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A319V | c.956C>T | Exon 7 | 1,002,145 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A361Gfs*79 | c.1082del | Exon 8 | 1,002,377 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>C | Exon 1 | 987,085 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1A>G | Exon 1 | 987,085 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>C | Exon 1 | 987,086 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3G>A | Exon 1 | 987,087 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.159-1_159insC | Intron 1 | 987,808 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.300-3C>G | Intron 2 | 1,000,609 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.385+1G>A | Intron 3 | 1,000,698 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.385+1G>C | Intron 3 | 1,000,698 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.386-1G>A | Intron 3 | 1,000,881 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.386-2A>G | Intron 3 | 1,000,880 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.494-1G>A | Intron 4 | 1,001,467 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.501C>A | Exon 5 | 1,001,475 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.540_544del | Exon 5 | 1,001,511 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.590-7G>A | Intron 5 | 1,001,672 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.792+1G>C | Intron 6 | 1,001,882 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.792+1G>T | Intron 6 | 1,001,882 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.972+1G>A | Intron 7 | 1,002,162 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.972+2T>C | Intron 7 | 1,002,163 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1029C>G | Exon 8 | 1,002,325 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1190-1G>A | Intron 8 | 1,002,731 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1190-10C>A | Intron 8 | 1,002,722 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1402+1G>A | Intron 9 | 1,002,945 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1402+1G>T | Intron 9 | 1,002,945 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1402+2T>G | Intron 9 | 1,002,946 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1403-1G>T | Intron 9 | 1,003,035 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1650+1G>T | Intron 11 | 1,003,471 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1650+5G>A | Intron 11 | 1,003,475 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1727+1G>A | Intron 12 | 1,003,626 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1727+2T>G | Intron 12 | 1,003,627 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1727+4C>T | Intron 12 | 1,003,629 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1728-1G>C | Intron 12 | 1,004,011 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1960T>C*522R | Exon 14 | 1,004,391 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1960T>G*654G | Exon 14 | 1,004,391 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1962A>T*654C | Exon 14 | 1,004,393 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C53X | c.159C>A | Exon 2 | 987,809 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C205Y | c.614G>A | Exon 6 | 1,001,703 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D292Efs*25 | c.876del | Exon 7 | 1,002,064 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D315Y | c.943G>T | Exon 7 | 1,002,132 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D349del | c.1045_1047del | Exon 8 | 1,002,338 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D349G | c.1046A>G | Exon 8 | 1,002,342 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D349H | c.1045G>C | Exon 8 | 1,002,341 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E182K | c.544G>A | Exon 5 | 1,001,518 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E207Afs*29 | c.613_617dup | Exon 6 | 1,001,700 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E274X | c.820G>T | Exon 7 | 1,002,009 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E276K | c.826G>A | Exon 7 | 1,002,015 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E299X | c.895G>T | Exon 7 | 1,002,084 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F52L | c.156C>A | Exon 1 | 987,240 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F177S | c.530T>C | Exon 5 | 1,001,504 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G51D | c.152G>A | Exon 1 | 987,236 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G84R | c.250G>C | Exon 2 | 987,900 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G197D | c.590G>A | Exon 6 | 1,001,679 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G197S | c.589G>A | Exon 5 | 1,001,563 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G208D | c.623G>A | Exon 6 | 1,001,712 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G265R | c.793G>C | Exon 7 | 1,001,982 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G466Afs*59 | c.1395del | Exon 9 | 1,002,931 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H358_T364del | c.1073_1093del | Exon 8 | 1,002,365 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H539Tfs*21 | c.1614del | Exon 11 | 1,003,433 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I270S | c.809T>G | Exon 7 | 1,001,998 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I295Hfs*104 | c.882dup | Exon 7 | 1,002,066 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K153X | c.457A>T | Exon 4 | 1,000,953 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L18P | c.53T>C | Exon 1 | 987,137 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L218P | c.653T>C | Exon 6 | 1,001,742 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L238Q | c.713T>A | Exon 6 | 1,001,802 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L238R | c.713T>G | Exon 6 | 1,001,802 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L346R | c.1037T>G | Exon 8 | 1,002,333 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L530Rfs*31 | c.1587_1588dup | Exon 11 | 1,003,403 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L532Cfs*28 | c.1593del | Exon 11 | 1,003,411 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N190Hfs*204 | c.568_581del | Exon 5 | 1,001,537 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N348K | c.1044C>A | Exon 8 | 1,002,340 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P22Rfs*86 | c.65del | Exon 1 | 987,144 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P496L | c.1487C>T | Exon 10 | 1,003,120 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P496R | c.1487C>G | Exon 10 | 1,003,120 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P533R | c.1598C>G | Exon 11 | 1,003,418 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P548Afs*24 | c.1641dup | Exon 11 | 1,003,460 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q60X | c.178C>T | Exon 2 | 987,828 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q63X | c.187C>T | Exon 2 | 987,837 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q70X | c.208C>T | Exon 2 | 987,858 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q147X | c.439C>T | Exon 4 | 1,000,935 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q310X | c.928C>T | Exon 7 | 1,002,117 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q380R | c.1139A>G | Exon 8 | 1,002,435 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q400X | c.1198C>T | Exon 9 | 1,002,740 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q500R | c.1499A>G | Exon 10 | 1,003,132 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q584X | c.1750C>T | Exon 13 | 1,004,034 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R48del | c.144_146del | Exon 1 | 987,223 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R89Q | c.266G>A | Exon 2 | 987,916 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R363C | c.1087C>T | Exon 8 | 1,002,383 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R383Afs*16 | c.1146dup | Exon 8 | 1,002,441 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R383H | c.1148G>A | Exon 8 | 1,002,444 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R531Gfs*29 | c.1591del | Exon 11 | 1,003,410 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R619X | c.1855C>T | Exon 14 | 1,004,286 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R621X | c.1861C>T | Exon 14 | 1,004,292 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R628P | c.1883G>C | Exon 14 | 1,004,314 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R628X | c.1882C>T | Exon 14 | 1,004,313 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S16_A19del | c.46_57del | Exon 1 | 987,118 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S414Afs*26 | c.1240del | Exon 9 | 1,002,781 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S534Rfs*26 | c.1599del | Exon 11 | 1,003,418 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |