遺伝性乳がん・卵巣がん症候群

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
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_007294.4(BRCA1):c.547+3A>T	BRCA1	Pathogenic	17	41251789	41251789	T	A	criteria provided, single submitter	ClinGen:CA10602603
Duplication	NM_007294.4(BRCA1):c.442-952_547dup	BRCA1	Pathogenic	17	41251791	41251792	C	CCCAATTCAATGTAGACAGACGTCTTTTGAGGTTGTATCCGCTGCTTTGTCCTCAGAGTTCTCACAGTTCCAAGGTTAGAGAGTTGGACACTGAGACTGGTTTCCTGCTAAACAGTATGGTAAAGAACAGTCAAGCAATTGTTGGCCAGTTCTGTGCTTTTCCTCCTGAAGAGAAACTTGACACCATGGACAAAATAAATTGACCATCATCAGTCAGCTAACATGTATGATGCCTGGAAAAAATGCCCAGGAATTTACACACTAAAATGTCTGGGGCTGGGAGCGGTAGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGGAGCAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCATAAGCAACAGAGTGAGACCCAGTCTCTACAAAATAATAGTAGTAGTAATAATAAAATGTGTGGGATATGTGTGATTTGAATTTTTTTTTCTGTTGTCTTAAATTTTTCAAACCTGATTATGTATTATTTGTGTAATTTTTGAAGTATTAATATAGCATATTTTGAAGCTGATACTTGATATACATTCCAATCACATCTGATAACTTTTTTTTTTGTTTTGGGGGGTGTACAGAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTAAGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGTCTACAAGCGTGTGCAACTATGCCTGGCTAATTTGTGTGTGTGTGTGTATATATATATACATATATATGTGTGTGTGTGTGTATATATATATATAACATATATATAACATATATATATTATATATATATAACATATATATAACATATATATATGTTATATATATATAACATATATATAACATATATATATATATATATATAATATATATATATATATATATATATGTAATCCCAGCACTTTGGGATATATGTGTATATATGTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTTGCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCACACTGCAACCTCCACCTCCCTGGTTCAG	criteria provided, single submitter	ClinGen:CA10602604
single nucleotide variant	NM_007294.4(BRCA1):c.442-7T>A	BRCA1	Pathogenic	17	41251904	41251904	A	T	criteria provided, single submitter	ClinGen:CA10602605
Insertion	NM_007294.3(BRCA1):c.438_439ins25 (p.?)	BRCA1	Pathogenic	17	41256141	41256142	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.212G>C (p.Arg71Thr)	BRCA1	Pathogenic	17	41258473	41258473	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10601745
single nucleotide variant	NM_007294.4(BRCA1):c.139T>A (p.Cys47Ser)	BRCA1	Pathogenic	17	41258546	41258546	A	T	criteria provided, single submitter	ClinGen:CA10601876
Deletion	NM_007294.4(BRCA1):c.81-1588_134+1725del	BRCA1	Pathogenic	17	41266018	41269384	AGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCT	A	criteria provided, single submitter	ClinGen:CA10602607
single nucleotide variant	NM_007294.4(BRCA1):c.134+1G>A	BRCA1	Pathogenic	17	41267742	41267742	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10601889
single nucleotide variant	NM_007294.4(BRCA1):c.117T>G (p.Cys39Trp)	BRCA1	Pathogenic	17	41267760	41267760	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10601925
Indel	NM_007294.3(BRCA1):c.-7620_80+468delins8	BRCA1	Pathogenic	17	41275566	41284888	na	na	criteria provided, single submitter	-