Variants
ATP7B variants
The 396 ATP7B 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 |
|---|---|---|---|---|---|
| A32Sfs*9 | c.92dup | Exon 2 | 51,975,127 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A38Cfs*3 | c.111dup | Exon 2 | 51,975,108 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A98Cfs*65 | c.291dup | Exon 2 | 51,974,928 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A399Lfs*2 | c.1195_1205del | Exon 2 | 51,974,014 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A629Vfs*19 | c.1886del | Exon 6 | 51,961,896 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A803T | c.2407G>A | Exon 9 | 51,957,556 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1003V | c.3008C>T | Exon 13 | 51,946,336 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1063G | c.3188C>G | Exon 14 | 51,944,164 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1074T | c.3220G>A | Exon 14 | 51,944,132 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1135Qfs*13 | c.3402del | Exon 15 | 51,942,395 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1183T | c.3547G>A | Exon 16 | 51,941,090 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1183Yfs*2 | c.3547_3548del | Exon 16 | 51,941,088 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1197Rfs*62 | c.3588dup | Exon 17 | 51,939,161 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1241V | c.3722C>T | Exon 18 | 51,937,657 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1263Kfs*68 | c.3786_3787insAA | Exon 18 | 51,937,592 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1283Gfs*21 | c.3845dup | Exon 18 | 51,937,533 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.51_51+1insA | Intron 1 | 52,011,286 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.51+4A>T | Intron 1 | 52,011,283 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.52-1G>A | Intron 1 | 51,975,169 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.969dup | Exon 2 | 51,974,250 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1285+2T>A | Intron 2 | 51,973,933 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1286-2A>G | Intron 2 | 51,970,751 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1543+1G>A | Intron 3 | 51,970,491 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1543+1G>C | Intron 3 | 51,970,491 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1544-2A>G | Intron 3 | 51,968,609 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1700_1707+16del | Intron 4 | 51,968,427 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1705_1707+10del | Intron 4 | 51,968,433 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1707+1G>A | Intron 4 | 51,968,443 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1707+5G>A | Intron 4 | 51,968,439 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1708-1G>A | Intron 4 | 51,965,034 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1869+2T>C | Intron 5 | 51,964,870 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1870-1G>C | Intron 5 | 51,961,914 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1870-2A>G | Intron 5 | 51,961,915 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1946+2T>C | Intron 6 | 51,961,835 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1946+6T>C | Intron 6 | 51,961,831 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2071G>C | Exon 7 | 51,960,198 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2121+1G>A | Intron 7 | 51,960,147 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2121+1G>T | Intron 7 | 51,960,147 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2121+3A>G | Intron 7 | 51,960,145 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2122-1G>A | Intron 7 | 51,958,545 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2122-1G>C | Intron 7 | 51,958,545 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2122-8T>G | Intron 7 | 51,958,552 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2157del | Exon 8 | 51,958,508 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2337G>A | Exon 8 | 51,958,329 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2356-2A>G | Intron 8 | 51,957,609 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2356-2A>T | Intron 8 | 51,957,609 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2447+1G>A | Intron 9 | 51,957,515 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2447+1G>T | Intron 9 | 51,957,515 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2575+1G>A | Intron 10 | 51,950,271 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2575+1G>C | Intron 10 | 51,950,271 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2730+1G>A | Intron 11 | 51,950,006 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2730+2T>A | Intron 11 | 51,950,005 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2731-2A>G | Intron 11 | 51,949,798 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2763T>G | Exon 12 | 51,949,764 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2817G>C | Exon 12 | 51,949,710 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2865+1G>A | Intron 12 | 51,949,661 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2866-2A>C | Intron 12 | 51,946,480 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2866-2A>G | Intron 12 | 51,946,480 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2866-2del | Intron 12 | 51,946,479 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2953del | Exon 13 | 51,946,390 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2998G>C | Exon 13 | 51,946,346 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3060+5G>T | Intron 13 | 51,946,279 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3061-1G>A | Intron 13 | 51,944,292 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3061-2A>G | Intron 13 | 51,944,293 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3061-12T>A | Intron 13 | 51,944,303 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3243+1G>A | Intron 14 | 51,944,108 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3243+2T>C | Intron 14 | 51,944,107 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3412+1G>A | Intron 15 | 51,942,385 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3556+1G>A | Intron 16 | 51,941,080 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3556+1G>T | Intron 16 | 51,941,080 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3699+1G>T | Intron 17 | 51,939,050 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3700-1G>A | Intron 17 | 51,937,680 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3904-2A>G | Intron 18 | 51,937,395 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3904-2del | Intron 18 | 51,937,394 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4021+1G>A | Intron 19 | 51,937,275 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4022-2A>C | Intron 19 | 51,935,697 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4124+1G>A | Intron 20 | 51,935,592 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4124+5G>A | Intron 20 | 51,935,588 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4125-1G>C | Intron 20 | 51,935,030 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C268Lfs*4 | c.802_808del | Exon 2 | 51,974,411 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C271X | c.813C>A | Exon 2 | 51,974,407 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C305X | c.915T>A | Exon 2 | 51,974,305 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C358Sfs*5 | c.1073del | Exon 2 | 51,974,146 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C370Sfs*12 | c.1107_1108dup | Exon 2 | 51,974,111 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C431Yfs*3 | c.1292_1294delinsA | Exon 3 | 51,970,741 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C490X | c.1470C>A | Exon 3 | 51,970,565 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C703Y | c.2108G>A | Exon 7 | 51,960,161 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C980Y | c.2939G>A | Exon 13 | 51,946,405 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C985Afs*37 | c.2952del | Exon 13 | 51,946,391 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C1079F | c.3236G>T | Exon 14 | 51,944,116 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C1079Vfs*42 | c.3234del | Exon 14 | 51,944,117 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C1079X | c.3237T>A | Exon 14 | 51,944,115 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D642H | c.1924G>C | Exon 6 | 51,961,859 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D642Y | c.1924G>T | Exon 6 | 51,961,859 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D765_F771del | c.2292_2312del | Exon 8 | 51,958,353 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D765G | c.2294A>G | Exon 8 | 51,958,372 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D765H | c.2293G>C | Exon 8 | 51,958,373 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D765N | c.2293G>A | Exon 8 | 51,958,373 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D829H | c.2485G>C | Exon 10 | 51,950,362 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D1027H | c.3079G>C | Exon 14 | 51,944,273 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |