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_000059.4(BRCA2):c.293T>G (p.Leu98Ter)	BRCA2	Pathogenic	13	32893439	32893439	T	G	reviewed by expert panel	ClinGen:CA387754645
Deletion	NM_000059.4(BRCA2):c.6034del (p.Ser2012fs)	BRCA2	Pathogenic	13	32914523	32914523	CT	C	reviewed by expert panel	ClinGen:CA645294073
Deletion	NM_000059.4(BRCA2):c.6650_6654del (p.Lys2217fs)	BRCA2	Pathogenic	13	32915142	32915146	AAAGAT	A	reviewed by expert panel	ClinGen:CA645294074
Deletion	NM_000059.4(BRCA2):c.6652del (p.Asp2218fs)	BRCA2	Pathogenic	13	32915144	32915144	AG	A	reviewed by expert panel	ClinGen:CA645294075
Deletion	NM_007294.4(BRCA1):c.2527del (p.Thr843fs)	BRCA1	Pathogenic	17	41245021	41245021	GT	G	reviewed by expert panel	ClinGen:CA645294097
single nucleotide variant	NM_007294.4(BRCA1):c.845C>A (p.Ser282Ter)	BRCA1	Pathogenic	17	41246703	41246703	G	T	reviewed by expert panel	ClinGen:CA10600392
Deletion	NM_000059.4(BRCA2):c.8954-8_9136del	BRCA2	Pathogenic	13	32953879	32954162	CTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA	C	criteria provided, single submitter	ClinGen:CA645369604
Deletion	NC_000017.11:g.(?_43045678)_(43051117_?)del	BRCA1	Pathogenic	17	41197695	41203134	na	na	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.1385_4186-2276del	BRCA1	Pathogenic	17	41236868	41246163	ACCAAAATGCTTCACAGGCTGTATTAGTCACTACTGTCACAACCATCACATCTAACCTCTACGTGGCCATTACATAAATCAGAAAAAGTAGTGGGGTAATTATTAATAGATAACTTTCCTTTGGGTTTCCCAAAGGAATTATTTTTTATAACTTAGACAAATTCCCCAGCAGGTAAGTGGCCAAATACATTAGGGAGAATAAAACCAATAGGTTTCTAAGACTTCTTGATTCTAATTCTGAAGTGCTCCTTCAATTAGCTCTAGCCTTCTACTTCTACTATGCTGCTCTGATCTCTACTTTTAATACAGCTACATTACTGTAGAAGTTCCCTAAAAGCCTTGTTTATCATGTCTTTTTCTTCCATAAAGACCCTTAGTGCTCCATCCTGGCCATCACAGTGAAACACTGGCTGAGGCAGAAGAATCACTTGAACCCAGGTGGCGGAAGTGCAGTGAGCTGAGATCGTGCCACGGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAGAAAAGAAAAAAACCCTTAGTGGTATACCACTGCTGATTTATACTTTTTGAACACTATATAATTGTTAGTCATTACTGCCATTAGGATAAAATTCCTCAACATAGCATTCAAAAGGCCCTTTATACCCTGGTATTATCTCTCATTTCTCCCAACACCCCTCACACAAGTTGTTTTCCTATAACACATGACAACTTTACGTTTCCTGGGAATTCCATGACTCTGTACCTTTACCTTACTTGCTGCCACTCCTCTTTTTCCACTTGGAAAAATTCTCATCTTTCAAGGCCTAGTTTGAATGTCTCCTTAAGTCCCCACCAGGAGGAGTTGTGAAATATGAGAAGTAAGGGCAAGTGGGCAGAATGTGGCTAATTCTAATAAGACTCCTGAAATGTGCAGCAGAGCAGCCGGAACTGGTCTGGAGGGAAGCAGAGTGTATATCTGACCCTTGTTTGTTCACATTCATTACATATAAATATATATATAAAACCTTCCCATAAAACATGTGTATTTAATGAGTTAAAACTATTTCTAATGTTCCTACTACTACATAATAAGCCTAATCCAGATACAAGCTGAAGTCTTAGCACAAATAGTGGCTTTATCATGCTAGTTTTGTCGACATGTTGTGAATATTTTCAAATATACAGAAAACTTGAAGCAACTTTGCAATGAGTGTTTATATATCTACTACTTAGAATCTATAATTAACATTTCCTATATTTATTTTATCACATACATACACACACACACACACACACACACACACACACACACACAGAAGTCCCCACCAATAATCCATCTCCTATCGGGAACAGATGATCTCTCACTACTTGATTTACATTGCTAATGCATTAGTATACCCAAATGGAACACATGACCTTGATAGGAGGAAGCTTCCCTTAATCATATTTGTCTCCCTAATGCCTAGCAGACAGTAAGCACTCAGCAAGTGTTTATTAATGAGAAGATAAATTAATAAATAAGTATAGTTAATCAGTCTTCTGTAAAAACAAACAAAAACCCAGATATCAATGATACCAAATTAGGAATTCTCTATCATCTATATACTTTTTCTCGGTTCAGTACAAAAAGGGAAAAAAAAATCCCACTTCAATAGTTTTTCCTGCCTGTGCTACTTTAGACGTAAGACAGCCTGAAATCTGACTTCAACGGTTTTGGGTAGATGCTTAGTAAAAACACGTTGCAAAATGAATCCTGAACAAATAGACACATCTCTGGGAATAAGATTAGAAATACAGAAAAACAAGGACATTGTATATTGAATGTCAAATATAATACAGTATGGCTAAGGCAGATGTAATCAGAAATTGCAACCTTAAACTTTAAAACACAATGGACAGAATTAGATGATGGGTATATTGACAGAGTCCCAAACCCACATTCAAAAAGGATCATAGGAATTGCAAAGAGAGAAAAGGCCTCCTAAATCTTTTCATCAATTTAGTTGCCATGGCAATCCTGAAGAAGTGGAGAATACTGGTGACAGCTCAGATACAGAGTGGGGAGTCATCTCAAAGGTTTCTTGACAACTCCAAGGGGCTTCAGGTCTAGAGGGATTTGCTCTGTACAGAGAATGGGCAGTAGAAGATAAGCCTTCTCTAATTGTAGTTCTCATAGCAATGCAAGATTTAGATTTTAAAACTGGATATCACCCAGTGTTGGCAAGGTACAGGAAAATGGGAACTATCATATACCACAGGGGCTGGAAGAGCATAAACTGGTTTAATCTTTCTAAAAAACAATTTAGTAACATGTATCAAACACCAAAATCCTAGTCCCAGTAATTTAGACTAAGGAAATAATCAGGGATGTAGGCAAATATTTAGCTATCAGGATGCCACTATAGTGATGTACATAATAGCAAACTGTGCCTCTTACCCTGAAACCTCCAACATTCAGCAATAGGTCAAATAAATCATGATACACTGGAAAGATAGAATCCCATATAGTAATTAAAAATGAAGTCACTTAAGAATTTTAACGACCCAGGCTGAGTGCGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGTCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCATGAACCCGGGAGGCAGAGGATGCGGTGAGCCAAGGTCACACCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAGAAAAAAAAAAAAAAAAAGAAAAAAGAATTTTAATGATCCAGTAAAAGCTAGATTATAATGCACAGAATTATCTGGATTTCTTGTTTTTGAGACAGGGTCTCACCATATCACCCAGGATGGAGTGCAGTGGCACCATCATGGCTCACCACGGCCTCAACTTGCTGGGATCAAGCAATCCTACCCCAGCCACTCAAGTAGCTGAGACTACAGGTGTGCACCACTAAGCCTCACTAATTTTTTTTTTTTTCCCAGACAGGGGTTGCCCAGAACAGAGTGCAGTAGCGTGATCACAACTCACTGCAGCCTTGACCTCCGGGGCTCAGGCAATCTTCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACTGTGCCTAGCTTCCTGGATATATTTTAAAGATAAAGTATATACAAGCACCCCTGTGCACACACAGGAATACTAAAAGAATATACACCAATAAATTGCTAACCATTTCTGGATAACACAAATTACAATTAACTTATCATTTTAATCATTTTAAGTGTACAGTTCAGTGGCATTATTTTCACACTGTTGTGTTACCATTGCCACTATCTATCTCCAGAACTTTTTCATCATCCCAAACTGAAATCTGCACTCATCAAACAGTAACTCCCCATTTCCCCCTCCCCAAGTCCCTAGTAACCACTATTCTACCTTCCATCCTATGAATTTATCTTTTTTTTTTTTTTAACTGCTCCTTGTGGAGCAAGGCTTATCTATAGGCAATGTACCCAGAGTAACCAAATGTAACTATTCTAGGTATCTCATATAAGTGGAAGCATATAACATGTGTCCTTTGGTGTCCGGTTTATTTCAGTTAACACAATGTCTTCAAGGTTCGTCCATGGATGATTTTTGTTTATCTGTATTTTCTAAGTTTTCTATGATGCACATATATAACTTTATAAGAATATCAGGCTTTTCTCAACTTCATCTAATCTGACTTCAGAAAGTTCATAAAAAAACATCATTCACTTACTAGCAGCTAAAAGGGTATTTAAGATTTAGGTGGGAAAAAGAAGCCACAGCAGGATGAATCGAGGGGGTCTGAACAGCTTCATTTTAAGAATGTGCCTACGGCAGGTCAGAGAACATAAGCAAACTGTCTAAGATCACATAGCCCAGTACAGAACTCTCACCAATATTATTGCCAGCAACTGCTGTGTGTGTATTCTGCATAGAACCCTGTGCTGGGAATACAAAGAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGCATTCCAGCCTGGGTGACAGAGCAAAACTCCATCTCAAAAAAAAAAATTAGGAGAAAGAGCCTGGTTCTATGATGAAGATGATATTCATTTTTAGACGTTGTGATACAGAATGTTTTTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCTGGGTAACAGAGTAAGAGACCCTGTGTCAAAGAAACCAAAAAGAAAAAAATAACTAGATTTTAAAAGGGAAAAAAAAAAAGAAGAAGAGAAAGAAGTATCCACAAAACAGTGAAAGGCTAGATGGTCTCTATTAGGAAGAGAACCCTATAGTCTCCAACTTGGTACCAAGAATAAACACCAAAATTGCGATTGCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGTGAAATAAAAGGTAGTATGAGTTCCATCAAGGTGCTTACAGTCTAATTTAAGGAGACAATGAACCACAAACAATTGTGCCATTAATTCAAAGAGATGATGTCAGCAAACCTAAGAATGTGGGATACATACTACTGAATGCAAAGGACACCACACACACGCATGTGCACACACACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTTTCTTCATCATCTGAAACCAATTCCTTGTCACTCAGACCAACTCCCTGGCTTTCAGACTGATGCCTCATTTGTTTGGAAGAACCAATCAAGAAAGGATCCTGGGTGTTTGTATTTGCAGTCAAGTCTTCCAATTCACTGCACTGTGAAGAAAACAAGCTAGCAGAACATTTTGTTTCCTCACTAAGGTGATGTTCCTGAGATGCCTTTGCCAATATTACCTGGTTACTGCAGTCATTTAAGCTATTCTTCAATGATAATAAATTCTCCTCTGTGTTCTTAGACAGACACTCGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGTTGGAAGCAGGGAAGCTCTTCATCCTCACTAGATAAGTTCTCTTCTGAGGACTCTAATTTCTTGGCCCCTCTTCGGTAACCCTGAGCCAAATGTGTATGGGTGAAAGGGCTAGGACTCCTGCTAAGCTCTCCTTTCTGGACGCTTTTGCTAAAAACAGCAGAACTTTCCTTAATGTCATTTTCAGCAAAACTAGTATCTTCCTTTATTTCACCATCATCTAACAGGTCATCAGGTGTCTCAGAACAAACCTGAGATGCATGACTACTTCCCATAGGCTGTTCTAAGTTATCTGAAATCAGATATGGAGAGAAATCTGTATTAACAGTCTGAACTACTTCTTCATATTCTTGCTTTTTTATTTCAGGATGCTTACAATTACTTCCAGGAAGACTTTGTTTATAGACCTCAGGTTGCAAAACCCCTAATCTAAGCATAGCATTCAATTTTGGCCCTCTGTTTCTACCTAGTTCTGCTTGAATGTTTTCATCACTGGAACCTATTTCATTAATACTGGAGCCCACTTCATTAGTACTGGAACCTACTTCATTAATATTGCTTGAGCTGGCTTCTTTAAAAACATTTTCTCTAATGTTATTACGGCTAATTGTGCTCACTGTACTTGGAATGTTCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCTCTAGCAGATTTTTCTTACATTTAGTTTTAACAAATGACTTGATGGGAAAAAGTGGTGGTATACGATATGGGTTTTGTAAAAGTCCATGTTTATTTGGAGTAATGAGTCCAGTTTCGTTGCCTCTGAACTGAGATGATAGACAAAACCTAGAGCCTCCTTTGATACTACATTTGGCATTATCAACTGGCTTATCTTTCTGACCAACCACAGGAAAGCCTGCAGTGATATTAACTGTCTGTACAGGCTTGATATTAGACTCATTCTTTCCTTGATTTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGACTCACACATTTATTTGGTTCTGTTTTTGCCTTCCCTAGAGTGCTAACTTCCAGTAACGAGATACTTTCCTGAGTGCCATAATCAGTACCAGGTACCAATGAAATACTGCTACTCTCTACAGATCTTTCAGTTTGCAAAACCCTTTCTCCACTTAACATGAGATCTTTGGGGTCTTCAGCATTATTAGACACTTTAACTGTTTCTAGTTTCTCTTCTTTTTCTTCTCTTGGAAGGCTAGGATTGACAAATTCTTTAAGTTCACTGGTATTTGAACACTTAGTAAAAGAACCAGGTGCATTTGTTAACTTCAGCTCTGGGAAAGTATCGCTGTCATGTCTTTTACTTGTCTGTTCATTTGGCTTGTTACTCTTCTTGGCTCCAGTTGCAGGTTCTTTACCTTCCATGAGTTGTAGGTTTCTGCTGTGCCTGACTGGCATTTGGTTGTACTTTTTTTTCTTTATCTCTTCACTGCTAGAACAACTATCAATTTGCAATTCAGTACAATTAGGTGGGCTTAGATTTCTACTGACTACTAGTTCAAGCGCATGAATATGCCTGGTAGAAGACTTCCTCCTCAGCCTATTCTTTTTAGGTGCTTTTGAATTGTGGATATTTAATTCGAGTTCCATATTGCTTATACTGCTGCTTATAGGTTCAGCTTTCGTTTTGAAAGCAGATTCTTTTTCGAGTGATTCTATTGGGTTAGGATTTTTCTCATTCTGAATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCATCACTTGACCATTCTGCTCCGTTTGGTTAGTTCCCTGATTTATCATTTCAGGAGTCTTTTGAACTGCCAAATCTGCTTTCTTGATAAAATCCTCAGGATGAAGGCCTGATGTAGGTCTCCTTTTACGCTTTAATTTATTTGTGAGGGGACGCTCTTGTATTATCTGTGGCTCAGTAACAAATGCTCCTATAATTAGATTTTCAGTTACATGGCTTAAGTTGGGGAGGCTTGCCTTCTTCCGATAGGTTTTCC	A	criteria provided, single submitter	ClinGen:CA645369660
single nucleotide variant	NM_000059.4(BRCA2):c.7876T>C (p.Trp2626Arg)	BRCA2	Pathogenic/Likely pathogenic	13	32936730	32936730	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA387747100