Variants
CDH1 variants
The 228 CDH1 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 |
|---|---|---|---|---|---|
| A530Cfs*7 | c.1587dup | Exon 11 | 68,819,300 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A546Lfs*11 | c.1636del | Exon 11 | 68,819,347 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>G | Exon 1 | 68,737,416 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>A | Exon 1 | 68,737,417 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>C | Exon 1 | 68,737,417 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>G | Exon 1 | 68,737,417 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3G>A | Exon 1 | 68,737,418 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.11G>A | Exon 1 | 68,737,426 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.48+1G>A | Intron 1 | 68,737,464 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.49-2A>G | Intron 1 | 68,738,295 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.60G>A | Exon 2 | 68,738,308 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.467G>A | Exon 4 | 68,808,503 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.531+1G>A | Intron 4 | 68,808,568 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.532-1G>C | Intron 4 | 68,808,692 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.687+1G>A | Intron 5 | 68,808,849 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.832+1G>A | Intron 6 | 68,810,342 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.832+1G>T | Intron 6 | 68,810,342 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.833-2A>G | Intron 6 | 68,811,682 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.833-9C>G | Intron 6 | 68,811,675 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1008+2T>C | Intron 7 | 68,811,861 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1008G>A | Exon 7 | 68,811,859 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1009-2_1009-1del | Intron 7 | 68,812,132 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1137+1G>A | Intron 8 | 68,812,264 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1137+2T>C | Intron 8 | 68,812,265 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1137G>A1137G-A | Exon 8 | 68,812,263 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1137G>T | Exon 8 | 68,812,263 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1320+1G>C | Intron 9 | 68,813,496 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1565+1_1565+2insT | Intron 10 | 68,815,760 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1565+1del | Exon 10 | 68,815,759 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1565+1G>AIVS10+1G>A | Intron 10 | 68,815,760 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1565+1G>C | Intron 10 | 68,815,760 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1565+1G>T | Intron 10 | 68,815,760 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1565+5G>A | Intron 10 | 68,815,764 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1711_1711+5del | Exon 11 | 68,819,424 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1711+1G>A | Intron 11 | 68,819,426 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1711+1G>C | Intron 11 | 68,819,426 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2165-1G>C | Intron 13 | 68,828,173 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2296-1G>A | Intron 14 | 68,829,653 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2296-2A>G | Intron 14 | 68,829,652 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2438_2439+2del | Exon 15 | 68,829,795 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2440-2A>G | Intron 15 | 68,833,288 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C163X | c.489C>A | Exon 4 | 68,808,525 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C688X | c.2064_2065del | Exon 13 | 68,823,523 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D538Tfs*19 | c.1612del | Exon 11 | 68,819,324 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D662X | c.1979dup | Exon 13 | 68,823,440 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E24X | c.70G>T | Exon 2 | 68,738,318 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E26X | c.76G>T | Exon 2 | 68,738,324 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E261X | c.781G>T | Exon 6 | 68,810,290 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E265X | c.793G>T | Exon 6 | 68,810,302 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E336D | c.1008G>T | Exon 7 | 68,811,859 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E353K | c.1057G>A | Exon 8 | 68,812,183 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E494X | c.1480G>T | Exon 10 | 68,815,674 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E497Lfs*23 | c.1488_1494del | Exon 10 | 68,815,680 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E648X | c.1942G>T | Exon 13 | 68,823,404 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E702X | c.2104G>T | Exon 13 | 68,823,566 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E758X | c.2272G>T | Exon 14 | 68,828,281 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E763X | c.2287G>T | Exon 14 | 68,828,296 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E836X | c.2506G>T | Exon 16 | 68,833,356 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F810Lfs*6 | c.2430del | Exon 15 | 68,829,784 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G169Afs*46 | c.504del | Exon 4 | 68,808,535 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G239R | c.715G>A | Exon 6 | 68,810,224 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G502Afs*20 | c.1505del | Exon 10 | 68,815,696 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G579Rfs*9 | c.1733dup | Exon 12 | 68,822,021 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G693Rfs*3 | c.2076_2077del | Exon 13 | 68,823,537 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G715Efs*7 | c.2144del | Exon 13 | 68,823,604 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G759Efs*11 | c.2276del | Exon 14 | 68,828,283 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G775Afs*8 | c.2324del | Exon 15 | 68,829,678 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H121Afs*47 | c.360dup | Exon 3 | 68,801,862 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H128Ifs*87 | c.382del | Exon 3 | 68,801,884 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H128Pfs*42 | c.376_382dup | Exon 3 | 68,801,874 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H233Rfs*10 | c.696_697del | Exon 6 | 68,810,200 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H632Rfs*30 | c.1895_1896del | Exon 12 | 68,822,179 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I161Efs*54 | c.480_486delinsAGAATA | Exon 4 | 68,808,516 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I415Pfs*3 | c.1237_1238dup | Exon 9 | 68,813,409 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I594Hfs*11 | c.1779dup | Exon 12 | 68,822,063 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I640Sfs*22 | c.1917_1918del | Exon 12 | 68,822,205 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I650Hfs*12 | c.1948_1949del | Exon 13 | 68,823,408 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I651Sfs*3 | c.1948_1949dup | Exon 13 | 68,823,408 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I665Sfs*14 | c.1993del | Exon 13 | 68,823,451 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K113X | c.337A>T | Exon 3 | 68,801,843 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K153Efs*61 | c.457_460del | Exon 4 | 68,808,492 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K153X | c.457A>T | Exon 4 | 68,808,493 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K314X | c.940A>T | Exon 7 | 68,811,791 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K447Nfs*8 | c.1341del | Exon 10 | 68,815,534 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K816X | c.2446A>T | Exon 16 | 68,833,296 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L355X | c.1064del | Exon 8 | 68,812,188 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L452Tfs*2 | c.1354_1357del | Exon 10 | 68,815,547 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L583Afs*5 | c.1746dup | Exon 12 | 68,822,034 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L667Sfs*12 | c.1999del | Exon 13 | 68,823,460 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L831Afs*4 | c.2490dup | Exon 16 | 68,833,339 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N174Kfs*25 | c.521dup | Exon 4 | 68,808,552 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N240Kfs*10 | c.720del | Exon 6 | 68,810,228 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N369Kfs*24 | c.1107del | Exon 8 | 68,812,232 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N390Kfs*3 | c.1170del | Exon 9 | 68,813,344 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N481Kfs*41 | c.1443del | Exon 10 | 68,815,636 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N531Qfs*6 | c.1590dup | Exon 11 | 68,819,302 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P42Sfs*16 | c.124_126delinsT | Exon 2 | 68,738,372 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P126Rfs*89 | c.377del | Exon 3 | 68,801,877 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P147Wfs*20 | c.438_439del | Exon 4 | 68,808,470 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P219Lfs*31 | c.656del | Exon 5 | 68,808,815 | Pathogenic | 3 stars out of 4 reviewed by expert panel |