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遺伝性乳がん (ATM/CHEK2)
腫瘍性疾患
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https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Deletion | NC_000022.11:g.(?_28709996)_(28710069_?)del | CHEK2 | Likely pathogenic | 22 | 29105984 | 29106057 | na | na | criteria provided, single submitter | - |
| Deletion | NM_007194.4(CHEK2):c.320-3970_454del | CHEK2 | Pathogenic | 22 | 29121103 | 29125325 | GGACCCACTTCCTAAAATAGAGAACATTTTGTTTCAGACTTTGAATAGCAGAGATTTATAGTGGGAAAATATCTAAAAACAATGACCAAATTACCAGCTCTCCTAGATACATGGGTATTCATTACCTACCCTGAAAATCCGAAAGTGTTTCTTGCTGTATGTTCGGTATTTATCTGTTCTTTTCAGCAGTGGTTCATCAAAGCAATATTCACAGCTTTTGTCCCTCCCAAACCAGTAGTTGTCATTCACACATTCTGTAATATAAAAGCATGCATCAGAGGGCTGTTGAATTTCATGTATCAAACGTTTAAAAATTGCTCATAAATGCTAATTGTAGGAAAATAGCCTAAGAAGGCAATCAGAATTATCAATCTGCTTATCAAGATTTTACAAGATTAAAAATTAGGAGAGAAAAAACAACATTACCAATGAGTTTAACAAATGGCAGTTTATCTATAACCACATGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCCCTTTGGAAGGCTAAGGCAGGAGGATCACTTGACCCCAGGAGCTCATGACCAGCCTGGGCAACATAGGGGGCACCCATCTCTACCAAGAATTTAAAAATTAGTCTGGGCAACATGGTGAAACCCTATCTCTACAAAAAATAAAAAATCAGCAGGGTGTGGTGGTGGGTCCCTGTGGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTGAGACTGCGCCACTGCACACTAGCCTGGGCGACAGAGTGAGACCCAGTTTCAAAAAAAAAAAAATGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAATGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGTTACTCGGGAAGCTGAGGCAGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGACGACAAAGCAAGACTCTGTCTGAAAAAAAACAAAAAACAATTAACCAGATGTGGTGGTGCATGCCTGTAGTCCAGCTACTCAGGAGGCTGAAGGAGGAGGATCACTTGAGCAAGATAAGCTGATGCTACAATGGGCTGTGATCCTGCCACTGTACTCCAACCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAATAAATAAACAAATATTTAATATATATTATATATTTATTTTATATTTATTATATATAATATATATAATTTGTATTTATTATACATGTTATATAAATTTATTTTATAAGTTGTCTTAAATATAATTATATATTTATACACAATATAACATATATTATATATTTATAATATAGTAATTATATCTAAATATATAATAATATATAATATATATTATAATCTATTAATATATGTATTTATATACACAAACACACACATACACATACATATATATATAAAACCGTGAAATAACAAATAGTCATTAAAAGTTCTCGAGTAATTTTTAATGACTTGGAAAATTACTTGCAATACAGTAATTTCCTGCTTATTACCTTCCTGAGGTTTTCCATGACACTTAGCATAAAATCTGCACTCTTCCTCATGGCCTACTAGATGCTCAGGGTCTGGCGTCTGCCACCATTCCAGCCCCACCTCATACCCCTCTCCCCTTGCTCATGACACCCAGCACCACTGGCCTCCTTTCACTGCCCCCAAGAATGCTGGGTTCAATCTGCCTTGTGGTCTTAGCACTTCTTCCCCAACTACACAAATGGCTCATTCCACCTTGCCTTTTGTATAACAGATACTATCTACACAACACTATCTGCCTTTAGGACTCTACTATCATCTCCCACTCAGCTTTCTTTCTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTGGCTGGGACTACAGGCACGTGCCACCATGCCCAGCTAATTTTTTGTAATTTTAGTAGAGACGGGGTTTCGCCATGTTAGACAGGATGGTCTCGATCTCCTGAACTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATAACAGGCATGCGCCACCACACCCGGCCTCCCGCTCAGCTTGTTATATAAACATTACTCACCTGTTATCATAATGTTATCCTGTTTTATATCTTTTTGGGTATGGGCCACGGCTGGAAATTACCTTGCTTATTTGTATATTTTCTCCCCACCTCCCTGCATTAGAACATAACCTCCAGGAGGGCAGCTGGAGACCTCTTGTTTAACAGTACAACTCCAGCACTTGGGATATTGCACATGGCAGGTAATTAAATGTTCATTGCAAGGCAGACTAGGGAAAATACTAGCAACTCCTATCAGGAAAAGGAATAATTTCCCTAATAAATGTTAGGTTCCTATAAATCAGTGAAAACGCTAAACAGTCCAGTAGAAAAATAGGTAAAGGATATGAAAAGATAATTTACAAGAAACAGAAATACAGCTGGCTCAAACATATGAAAGGTGGCCAAGCTAACCCAATATAAGAAAATTCAGAAATCAAAAACACATTAAGATTTCATGTTTTACCTATTAGATTGGCAAAAATCCAAAAGTTTCATATCACCCTGTGCTGGCAAGAGGTATGAAAAAGCGGGTACTCTCATACATTGCCATTGGGAATATAATTTATACACACATTGTCTATAATTGTCTAGGGAGGACAATTTAGCAAGATCTATCAAAATTACATATGGGCTGGGCACGATGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGAAGGAGGATCACTTGAGCCTGAAGGTCGAGGCTGCACTAAGCTGTGGTTGCACCACTCACTCCAGAGTGAGAGTGAGACCCTATCTCTAGAAAGAAAAAGAAAATTAACAAATCCAAATTTAGTTAGTTAAAAAGATCAACAAGTTGGCAAACCTTAGACAGACTGAACAAGAAAAAAAGAGACAAGACTCAAATTACTAAAATTAGAATGAGAGAGATAATTACTACTGATCTGACAGAAATAAAAATGATTTAAAAAGAATAATTGAACAATTGTGTGACAGTATTAGATGACATAGGTGAAATGGACAAACTCCTAGAAAGATACAAACTACCAAAACTAACACAAGAAGAAACAGAAAATCTGAATATACCCATAAGAAGTGAAAAGACTGAATGATAATCCTAGCACATTGGGAGGCCAAGGCAGGCGGATTGCTTGACTTCAGGAGATTGAGACCAGCCTGTGCAACATGGCAAAATCCCGTCTCTACTAAAAACAAAACAAAAAAAAATTTAGCCAGGTGTGGTGGCGCGCCCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCACAAGAATCGTTTGAACCTGTGAGGCAGAGGCTGCAGTGAGCCAATATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCTGTCTCCAAAAAAACAAAACAAAACAAAAGACTGAATGAGTAATCAAAATATCCCTACAAAGAAAAGTGCAGTCCCAGATTGCCTCACTTTAGCTTGAGCAACATAGGGACACCCCATCTCTATCAAAATAAAAAAATTAGCCACACATGGTGGCACATGCCTGAGGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGTTGAGCCTGGGAGGTCAAGCCTGCAGTGAAACGTGATAGTGGGTAACACTCCAGCGTGGGTAAGAGTGAGACCCTGTCTCAAAAAAAAGAAAAAAGAAACACACGGCTGGCTTCATTTTAAATTCTATCAAATATGTAAAGAACTAATACCAATTATTCTCAAACTTTTCGAAGAAATTCGGAACGGAACACTGTCAACTCATCTATGAGGCCAGCATACCAAAACCAGACAGAGACATCACAGTAAAACCACAAACCAATATCCCTTGTGAATATAGATATAAAAATCCTCAACAAAACAGTAGCAAACTAAATCCAGCAACACATAAAAAAGATTACAAATGACCAAACAAGAATTAACCCAGGACGCCAGGCGCGGTGGCTCACATCTGTATTCCCAGCACTTTGGGAGGCCGAGGCGGGCGATCACGAGGTCAGGAGAT | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_007194.4(CHEK2):c.319+1G>T | CHEK2 | Likely pathogenic | 22 | 29130390 | 29130390 | C | A | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NC_000022.11:g.(?_28687887)_(28719495_?)del | CHEK2 | Pathogenic | 22 | 29083875 | 29115483 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000022.11:g.(?_28694022)_(28734731_?)del | CHEK2 | Pathogenic | 22 | 29090010 | 29130719 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000022.11:g.(?_28695117)_(28696997_?)del | CHEK2 | Pathogenic | 22 | 29091105 | 29092985 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000022.11:g.(?_28687887)_(28687996_?)del | CHEK2 | Likely pathogenic | 22 | 29083875 | 29083984 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000022.11:g.(?_28687887)_(28710069_?)del | CHEK2 | Pathogenic | 22 | 29083875 | 29106057 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_007194.4(CHEK2):c.592+1G>A | CHEK2 | Pathogenic/Likely pathogenic | 22 | 29120964 | 29120964 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NC_000022.11:g.(?_28687887)_(28734731_?)del | CHEK2 | Pathogenic | 22 | 29083875 | 29130719 | na | na | criteria provided, single submitter | - |
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