家族性膵がん - MGenReviews

家族性膵がん

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
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_007294.4(BRCA1):c.5194-1G>C	BRCA1	Pathogenic	17	41209153	41209153	C	G	criteria provided, single submitter	ClinGen:CA10591149
single nucleotide variant	NM_007294.4(BRCA1):c.5193+2T>G	BRCA1	Pathogenic	17	41215348	41215348	A	C	criteria provided, single submitter	ClinGen:CA10591151
single nucleotide variant	NM_007294.4(BRCA1):c.5152+2T>A	BRCA1	Pathogenic	17	41215889	41215889	A	T	criteria provided, single submitter	ClinGen:CA10591240
Indel	NM_007294.4(BRCA1):c.5077_5080delinsTTGATTCTGC (p.Ala1693_Glu1694delinsLeuIleLeuGln)	BRCA1	Pathogenic	17	41215963	41215966	CAGC	GCAGAATCAA	criteria provided, single submitter	ClinGen:CA10602579
Deletion	NM_007294.4(BRCA1):c.5075-2del	BRCA1	Pathogenic/Likely pathogenic	17	41215970	41215970	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602580
Deletion	NM_007294.4(BRCA1):c.4986+892_5075-981del	BRCA1	Pathogenic	17	41216949	41222053	TGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTACTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCCCCCAAAGCGCTGGGATTACAGGCCTGAGCCACCACGCTTGGCATCTTTTTACCTTTCATTAACTTTGATGCAAACCTATAGCTTAAGGTATCTTAAACTTTAATGACATTTTTCTCTAAAATAGTAGTTTGTAATAACTTGTTCTGGCACCTGGCTCCAATGAACACTACCCTCTGACCCTGTGGTATAATTTTCATGAGTAAGTGGAAACCTAAGATCTTAGAAGTTCAACGGCAATGTGTCCAAGGGGTTTAGATCCTCTCCTTAAGTGCCTGTATCTCTGTGAAAAGAATCATCATAGGCTAGGCGCGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATCACCTGAGGTCGGGAGTCCAAGACCAGCCTGACTGACATGGAAAAACCCTGTCTCTACTAAAAATACAAAATTAGGTATGGTGGTGCATTCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTTGCAGCAAGCCAAGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGC	T	criteria provided, single submitter	ClinGen:CA10602581
Deletion	NM_007294.4(BRCA1):c.4986+725_5074+84del	BRCA1	Pathogenic	17	41219541	41222220	CGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGG	C	criteria provided, single submitter	ClinGen:CA10602582
single nucleotide variant	NM_007294.4(BRCA1):c.5074+1G>C	BRCA1	Pathogenic	17	41219624	41219624	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10591376
Deletion	NM_007294.4(BRCA1):c.4987del (p.Met1663fs)	BRCA1	Pathogenic	17	41219712	41219712	AT	A	reviewed by expert panel	ClinGen:CA10602583
single nucleotide variant	NM_007294.4(BRCA1):c.4987-1G>T	BRCA1	Pathogenic	17	41219713	41219713	C	A	criteria provided, single submitter	ClinGen:CA10591545