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
Deletion	NM_007294.4(BRCA1):c.4186-832_4357+1955del	BRCA1	Pathogenic	17	41232466	41235424	TGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTC	T	criteria provided, single submitter	ClinGen:CA10602591
Deletion	NM_007294.4(BRCA1):c.4357+1_4357+10del	BRCA1	Pathogenic	17	41234411	41234420	ACAATACACAC	A	criteria provided, single submitter	ClinGen:CA10602592
Insertion	NM_007294.4(BRCA1):c.4281_4282insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC (p.Ser1428Ter)	BRCA1	Pathogenic	17	41234496	41234497	T	TGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTA	criteria provided, single submitter	ClinGen:CA10602593
Deletion	NM_007294.4(BRCA1):c.4097-78_4185+69del	BRCA1	Pathogenic	17	41242892	41243127	GTGGGATACATACTACTGAATGCAAAGGACACCACACACACGCATGTGCACACACACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCAT	G	criteria provided, single submitter	ClinGen:CA10602594
single nucleotide variant	NM_007294.4(BRCA1):c.4185+2T>C	BRCA1	Pathogenic	17	41242959	41242959	A	G	criteria provided, single submitter	ClinGen:CA10593353
Insertion	NM_007294.4(BRCA1):c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG (p.His1244delinsAspThrCysTyrLeuValLysTer)	BRCA1	Pathogenic	17	41243818	41243819	G	GCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGTC	criteria provided, single submitter	ClinGen:CA10602595
Indel	NM_007294.3(BRCA1):c.3388_3408del21ins16 (p.?)	BRCA1	Pathogenic	17	41244140	41244160	na	na	criteria provided, single submitter	-
Insertion	NM_007294.3(BRCA1):c.3076_3077ins76 (p.?)	BRCA1	Pathogenic	17	41244471	41244472	na	na	criteria provided, single submitter	-
Insertion	NM_007294.3(BRCA1):c.3075_3076ins76 (p.?)	BRCA1	Pathogenic	17	41244472	41244473	na	na	criteria provided, single submitter	-
Insertion	NM_007294.3:c.3049_3050ins7	BRCA1	Pathogenic	17	41244498	41244499	na	na	criteria provided, single submitter	-