Duplication | NM_004360.5(CDH1):c.1893dup (p.His632fs) | CDH1 | Pathogenic | 16 | 68856084 | 68856085 | C | CA | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004360.5(CDH1):c.1605del (p.Asn536fs) | CDH1 | Pathogenic | 16 | 68853221 | 68853221 | AT | A | criteria provided, multiple submitters, no conflicts | - |
Indel | NM_004360.5(CDH1):c.1397_1409delinsAAA (p.Leu466fs) | CDH1 | Pathogenic | 16 | 68849494 | 68849506 | TCACCACCTCCAC | AAA | criteria provided, single submitter | - |
Deletion | NM_004360.5(CDH1):c.1212del (p.Asn405fs) | CDH1 | Pathogenic | 16 | 68847286 | 68847286 | GC | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004360.5(CDH1):c.631del (p.Thr211fs) | CDH1 | Pathogenic | 16 | 68842693 | 68842693 | GA | G | criteria provided, single submitter | - |
single nucleotide variant | NM_004360.5(CDH1):c.26C>A (p.Ser9Ter) | CDH1 | Pathogenic | 16 | 68771344 | 68771344 | C | A | reviewed by expert panel | - |
Deletion | NM_004360.5(CDH1):c.1380del (p.Pro461fs) | CDH1 | Pathogenic | 16 | 68849477 | 68849477 | TA | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_004360.5(CDH1):c.1234_1235dup (p.Ile415fs) | CDH1 | Pathogenic | 16 | 68847310 | 68847311 | C | CTG | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004360.4(CDH1):c.2440_2649del | CDH1 | Pathogenic | 16 | 68867190 | 68867399 | TTAGAATCTGAAAGCGGCTGATACTGACCCCACAGCCCCGCCTTATGATTCTCTGCTCGTGTTTGACTATGAAGGAAGCGGTTCCGAAGCTGCTAGTCTGAGCTCCCTGAACTCCTCAGAGTCAGACAAAGACCAGGACTATGACTACTTGAACGAATGGGGCAATCGCTTCAAGAAGCTGGCTGACATGTACGGAGGCGGCGAGGACGAC | T | criteria provided, single submitter | - |
Deletion | NM_004360.5(CDH1):c.51_163+2del | CDH1 | Pathogenic | 16 | 68772198 | 68772312 | CAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAG | C | criteria provided, single submitter | - |