single nucleotide variant | NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) | CDH1 | Pathogenic | 16 | 68844127 | 68844127 | G | A | reviewed by expert panel | ClinGen:CA298980 |
single nucleotide variant | NM_004360.5(CDH1):c.1565+1G>A | CDH1 | Pathogenic | 16 | 68849663 | 68849663 | G | A | reviewed by expert panel | ClinGen:CA288040 |
single nucleotide variant | NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp) | CDH1 | Likely pathogenic | 16 | 68845762 | 68845762 | G | T | reviewed by expert panel | ClinGen:CA280990,UniProtKB:P12830#VAR_001310,OMIM:192090.0005 |
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 |
single nucleotide variant | NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter) | CDH1 | Pathogenic | 16 | 68855984 | 68855984 | C | T | reviewed by expert panel | ClinGen:CA281000,OMIM:192090.0012 |
single nucleotide variant | NM_004360.5(CDH1):c.70G>T (p.Glu24Ter) | CDH1 | Pathogenic | 16 | 68772221 | 68772221 | G | T | reviewed by expert panel | ClinGen:CA280997,OMIM:192090.0011 |
single nucleotide variant | NM_004360.5(CDH1):c.59G>A (p.Trp20Ter) | CDH1 | Pathogenic | 16 | 68772210 | 68772210 | G | A | reviewed by expert panel | ClinGen:CA280996,OMIM:192090.0009 |
single nucleotide variant | NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter) | CDH1 | Pathogenic | 16 | 68857460 | 68857460 | C | T | reviewed by expert panel | ClinGen:CA280993,OMIM:192090.0007 |
Duplication | NM_004360.5(CDH1):c.2386dup (p.Arg796fs) | CDH1 | Likely pathogenic | 16 | 68863642 | 68863643 | T | TC | reviewed by expert panel | OMIM:192090.0006 |
single nucleotide variant | NM_004360.5(CDH1):c.781G>T (p.Glu261Ter) | CDH1 | Pathogenic | 16 | 68844193 | 68844193 | G | T | reviewed by expert panel | ClinGen:CA121997,OMIM:192090.0004 |