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.1711+1G>A | CDH1 | Likely pathogenic | 16 | 68853329 | 68853329 | G | A | reviewed by expert panel | ClinGen:CA396465476 |
Duplication | NM_004360.5(CDH1):c.2490dup (p.Leu831fs) | CDH1 | Likely pathogenic | 16 | 68867242 | 68867243 | T | TG | reviewed by expert panel | ClinGen:CA645369680 |
single nucleotide variant | NM_173842.3(IL1RN):c.62C>G (p.Ser21Ter) | IL1RN | Likely pathogenic | 2 | 113885263 | 113885263 | C | G | criteria provided, single submitter | ClinGen:CA53692982 |
Duplication | NC_000016.9:g.(?_68835567)_(68835802_?)dup | CDH1 | Likely pathogenic | 16 | 68835567 | 68835802 | na | na | criteria provided, single submitter | - |
Duplication | NC_000016.9:g.(?_68835567)_(68847404_?)dup | CDH1 | Likely pathogenic | 16 | 68835567 | 68847404 | na | na | criteria provided, single submitter | - |
Duplication | NC_000016.9:g.(?_68853177)_(68863706_?)dup | CDH1 | Likely pathogenic | 16 | 68853177 | 68863706 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_68821995)_(68823632_?)del | CDH1 | Likely pathogenic | 16 | 68855898 | 68857535 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004360.5(CDH1):c.832+1G>A | CDH1 | Likely pathogenic | 16 | 68844245 | 68844245 | G | A | reviewed by expert panel | ClinGen:CA396459027 |
single nucleotide variant | NM_004360.5(CDH1):c.687+2T>C | CDH1 | Likely pathogenic | 16 | 68842753 | 68842753 | T | C | reviewed by expert panel | ClinGen:CA396458165 |
single nucleotide variant | NM_004360.5(CDH1):c.2440-2A>G | CDH1 | Likely pathogenic | 16 | 68867191 | 68867191 | A | G | reviewed by expert panel | ClinGen:CA396471928 |