Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_004360.5(CDH1):c.1137G>T (p.Thr379=) | CDH1 | Likely pathogenic | 16 | 68846166 | 68846166 | G | T | reviewed by expert panel | - |
single nucleotide variant | NM_004360.5(CDH1):c.2439+1G>T | CDH1 | Likely pathogenic | 16 | 68863701 | 68863701 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_004360.5(CDH1):c.457A>T (p.Lys153Ter) | CDH1 | Pathogenic | 16 | 68842396 | 68842396 | A | T | reviewed by expert panel | - |
single nucleotide variant | NM_004360.5(CDH1):c.1936+5G>A | CDH1 | Likely pathogenic | 16 | 68856133 | 68856133 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004360.5(CDH1):c.1107del (p.Asn369fs) | CDH1 | Pathogenic | 16 | 68846136 | 68846136 | AC | A | reviewed by expert panel | - |
Deletion | NM_004360.5(CDH1):c.1170del (p.Asn390fs) | CDH1 | Pathogenic | 16 | 68847248 | 68847248 | AC | A | reviewed by expert panel | - |
single nucleotide variant | NM_004360.5(CDH1):c.687+1G>A | CDH1 | Likely pathogenic | 16 | 68842752 | 68842752 | G | A | reviewed by expert panel | - |
Deletion | NC_000016.10:g.(?_68738291)_(68738417_?)del | CDH1 | Pathogenic | 16 | 68772194 | 68772320 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_68737406)_(68738421_?)del | CDH1 | Pathogenic | 16 | 68771309 | 68772324 | na | na | criteria provided, single submitter | - |
Deletion | NM_004360.5(CDH1):c.1993del (p.Ile665fs) | CDH1 | Pathogenic | 16 | 68857355 | 68857355 | CA | C | reviewed by expert panel | - |