Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NC_000016.9:g.(?_68853177)_(68863706_?)dup | CDH1 | Likely pathogenic | 16 | 68853177 | 68863706 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004360.5(CDH1):c.2439+1G>T | CDH1 | Likely pathogenic | 16 | 68863701 | 68863701 | G | T | criteria provided, single submitter | - |
Deletion | NM_004360.5(CDH1):c.2430del (p.Phe810fs) | CDH1 | Pathogenic | 16 | 68863688 | 68863688 | AT | A | reviewed by expert panel | ClinGen:CA197715 |
Deletion | NM_004360.5(CDH1):c.2387_2406del (p.Arg796fs) | CDH1 | Likely pathogenic | 16 | 68863646 | 68863665 | CCCGGTATCTTCCCCGCCCTG | C | reviewed by expert panel | ClinGen:CA658798634 |
Deletion | NM_004360.5(CDH1):c.2398del (p.Arg800fs) | CDH1 | Pathogenic | 16 | 68863656 | 68863656 | TC | T | reviewed by expert panel | ClinGen:CA281459 |
Duplication | NM_004360.5(CDH1):c.2386dup (p.Arg796fs) | CDH1 | Likely pathogenic | 16 | 68863642 | 68863643 | T | TC | reviewed by expert panel | OMIM:192090.0006 |
Deletion | NM_004360.5(CDH1):c.2324del (p.Gly775fs) | CDH1 | Pathogenic | 16 | 68863582 | 68863582 | AG | A | reviewed by expert panel | ClinGen:CA16615415 |
single nucleotide variant | NM_004360.5(CDH1):c.2311C>T (p.Gln771Ter) | CDH1 | Pathogenic | 16 | 68863572 | 68863572 | C | T | reviewed by expert panel | ClinGen:CA396470822 |
single nucleotide variant | NM_004360.5(CDH1):c.2296-1G>A | CDH1 | Likely pathogenic | 16 | 68863556 | 68863556 | G | A | reviewed by expert panel | ClinGen:CA16042157 |
single nucleotide variant | NM_004360.5(CDH1):c.2296-2A>G | CDH1 | Likely pathogenic | 16 | 68863555 | 68863555 | A | G | reviewed by expert panel | ClinGen:CA10580157 |