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遺伝性びまん性胃がん
腫瘍性疾患
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| 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.2265T>A (p.Tyr755Ter) | CDH1 | Pathogenic | 16 | 68862177 | 68862177 | T | A | reviewed by expert panel | - |
| single nucleotide variant | NM_004360.5(CDH1):c.1913G>A (p.Trp638Ter) | CDH1 | Pathogenic | 16 | 68856105 | 68856105 | G | A | reviewed by expert panel | - |
| single nucleotide variant | NM_004360.5(CDH1):c.457A>T (p.Lys153Ter) | CDH1 | Pathogenic | 16 | 68842396 | 68842396 | A | T | reviewed by expert panel | - |
| 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 | - |
| 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 | - |
| Deletion | NC_000016.10:g.(?_68833280)_(68833509_?)del | CDH1 | Pathogenic | 16 | 68867183 | 68867412 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_004360.5(CDH1):c.12G>A (p.Trp4Ter) | CDH1 | Pathogenic | 16 | 68771330 | 68771330 | G | A | reviewed by expert panel | - |
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