Deletion | NM_004360.5(CDH1):c.1982del (p.Gly661fs) | CDH1 | Pathogenic | 16 | 68857345 | 68857345 | TG | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004360.5(CDH1):c.2474del (p.Pro825fs) | CDH1 | Pathogenic | 16 | 68867224 | 68867224 | GC | G | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_68737406)_(68833509_?)del | CDH1 | Pathogenic | 16 | 68771309 | 68867412 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_68828164)_(68833509_?)del | CDH1 | Pathogenic | 16 | 68862067 | 68867412 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_68815505)_(68815769_?)del | CDH1 | Pathogenic | 16 | 68849408 | 68849672 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_68801660)_(68801903_?)del | CDH1 | Pathogenic | 16 | 68835563 | 68835806 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004360.5(CDH1):c.1901C>T (p.Ala634Val) | CDH1 | Pathogenic/Likely pathogenic | 16 | 68856093 | 68856093 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA281003,UniProtKB:P12830#VAR_055431,OMIM:192090.0015 |
Insertion | NM_004360.5(CDH1):c.1565+2_1565+3insTT | CDH1 | Pathogenic/Likely pathogenic | 16 | 68849663 | 68849664 | G | GTT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658490 |
Deletion | NM_004360.5(CDH1):c.1553_1565+39del | CDH1 | Pathogenic/Likely pathogenic | 16 | 68849647 | 68849698 | ATGGAACAGAAAATAACGTAAGTGTGAGGATTTTTCAACTGACTTGCAGCAAC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658489 |
Deletion | NM_004360.5(CDH1):c.1145del (p.Gly382fs) | CDH1 | Pathogenic/Likely pathogenic | 16 | 68847221 | 68847221 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683953 |