遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

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
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
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
single nucleotide variant	NM_007294.4(BRCA1):c.4987-5T>C	BRCA1	Pathogenic/Likely pathogenic	17	41219717	41219717	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602584
Deletion	NM_007294.4(BRCA1):c.4676-1420_4986+900del	BRCA1	Pathogenic	17	41222045	41224675	GGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCA	G	criteria provided, single submitter	ClinGen:CA10602585
single nucleotide variant	NM_007294.4(BRCA1):c.4986+5G>C	BRCA1	Pathogenic/Likely pathogenic	17	41222940	41222940	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602586
Insertion	NM_007294.3(BRCA1):c.4986+1_4986+2ins65	BRCA1	Pathogenic	17	41222943	41222944	na	na	criteria provided, single submitter	-