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リンチ症候群
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) | ||||||||||
| Deletion | NM_000535.7(PMS2):c.9_23+7del | PMS2 | Likely pathogenic | 7 | 6048621 | 6048642 | CCGCTCACCTCGAGCTCTCAGCT | C | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5977578)_(5977767_?)del | PMS2 | Pathogenic | 7 | 6017209 | 6017398 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000007.13:g.(?_6026380)_(6027261_?)dup | PMS2 | Likely pathogenic | 7 | 6026380 | 6027261 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5986749)_(6009029_?)del | PMS2 | Pathogenic | 7 | 6026380 | 6048660 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5989790)_(5989965_?)del | PMS2 | Pathogenic | 7 | 6029421 | 6029596 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5995524)_(5995643_?)del | PMS2 | Pathogenic | 7 | 6035155 | 6035274 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5995524)_(5999285_?)del | PMS2 | Pathogenic | 7 | 6035155 | 6038916 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5997316)_(5999285_?)del | PMS2 | Pathogenic | 7 | 6036947 | 6038916 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_6002443)_(6004068_?)del | PMS2 | Pathogenic | 7 | 6042074 | 6043699 | na | na | criteria provided, single submitter | - |
| Deletion | NM_000535.7(PMS2):c.2357_2445+510del | PMS2 | Pathogenic | 7 | 6016709 | 6017307 | CGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACCATGCCCGGCCAAGAATACTGCTTAACAGAGGTAACAAAAGAGCAATAATTATGAGTTCAAGGTCACAGAGAACGCAGACGACACAGATGCTCAGCTACGACGCTGCACGTAGCTCTCTGTGTAAAATGACCCCTGGCAATCACAAAGGCGTTTACAACCTTGACCAAATCAGGAGCTGGGCTGAGACCTTCCTCGACTGCAAGCTTGAGCAGCTGAGCTGACAGCCAGGCTTTCTTTACTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCA | C | criteria provided, single submitter | - |
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