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.8488-1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32945092	32945092	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602549
Deletion	NM_000059.4(BRCA2):c.8633-24_8634del	BRCA2	Pathogenic	13	32950780	32950805	TGAATTAATAATCCTTTTGTTTTCTTA	T	reviewed by expert panel	ClinGen:CA10602550
single nucleotide variant	NM_000059.4(BRCA2):c.8754+1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32950929	32950929	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602551
Deletion	NM_000059.4(BRCA2):c.8755-375_9256+681del	BRCA2	Pathogenic	13	32953077	32954961	ACCTACAACACAGAAACAATGATATTACCTACCCCATGGACTGTTGTGAAGATTAAATGAATTAGTACATTTACTACACATAGATCTATTTCTCAAAATAATGAGCATTCAGATATTAGCCATCTGTAATGTAGTTGGTGATGATTATGATTATTAGAGTACATTTATAATTGGAGGATCATTTTTGCCGTAGGGAAATAGAATTATTAATAGTTTGAGGCACCTGAGAATATTATGTGAGAAACTGATTACATTAACCACACCCTTAAGATGAGCTCTAATTTTGTTGTATTTGTCCTGTTTAAAGCCATCTAGTTACAATAGATGGAACTTTTTTGTTCTGATTGCTTTTTATTCCAATATCTTAAATGGTCACAGGGTTATTTCAGTGAAGAGCAGTTAAGAGCCTTGAATAATCACAGGCAAATGTTGAATGATAAGAAACAAGCTCAGATCCAGTTGGAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGGAACAAGGTTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGATTCAGGTAAGTATGTAAATGCTTTGTTTTTATCAGTTTTATTAACTTAAAAAATGACCTTACTAACAAAATGATTATAAATCCAGATAAAGTATAAAGTTAGTTTATATCAGAGAAGCAAAATCCACTACTAATGCCCACAAAGAGATAATATAAAAGAGGATCTGTATTTATTTTGAAACAAACATTTAAATGATAATCACTTCTTCCATTGCATCTTTCTCATCTTTCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTATTTCAGATTTACCAGCCACGGGAGCCCCTTCACTTCAGCAAATTTTTAGATCCAGACTTTCAGCCATCTTGTTCTGAGGTGGACCTAATAGGATTTGTCGTTTCTGTTGTGAAAAAAACAGGTAATGCACAATATAGTTAATTTTTTTTATTGATTCTTTTAAAAAACATTGTCTTTTAAAATCTCTTATGATTAGTTGGAGCTACCAGTTGGCAAATTTGCTAGCTAACTAGTGATCTGAAAGTAAGCCTCTTTGAACCTCTGATTTTTCATGAAAAGCAATTCTCTCAATTCTATATTATTTCAAGGGTAACAAGTTACATCCTAGTCTGTGTACTTAATTTTATAGAAATTGTCCTTAATTTTATTTTCTGCAATTTATGTTTTCTTACTATTTCTGGTGTATGTGTTTATCCCATTGTGATGTTATATTGGTGTCCTCAATTTATTTCCTTAGCCATACACTCTACTTTTCATTGTACAGGGCTATTTATTATCTCAGAGTCAAGCTTTTTTTTTTTTTTTTTTTTCCCCGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCCCACTGCAAGTTCTGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACATATACCCGCCACCGAGCCTGGCCAATTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCGTGTTAACCAGGATAGTCTAAATCTCCTGACCTCGTGATCTACCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG	A	criteria provided, single submitter	ClinGen:CA10602552
single nucleotide variant	NM_000059.4(BRCA2):c.8953+2T>G	BRCA2	Pathogenic	13	32953654	32953654	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602553
single nucleotide variant	NM_000059.4(BRCA2):c.8954-15T>G	BRCA2	Pathogenic	13	32953872	32953872	T	G	criteria provided, single submitter	ClinGen:CA10602554
single nucleotide variant	NM_000059.4(BRCA2):c.8954-5A>G	BRCA2	Pathogenic/Likely pathogenic	13	32953882	32953882	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602555
Deletion	NM_000059.3(BRCA2):c.8972_9097del (p.Arg2991_Thr3033delinsPro)	BRCA2	Pathogenic	13	32953905	32954030	CGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA	C	criteria provided, single submitter	ClinGen:CA10602556
single nucleotide variant	NM_000059.4(BRCA2):c.9117+2T>C	BRCA2	Pathogenic	13	32954052	32954052	T	C	criteria provided, single submitter	ClinGen:CA10602558
Deletion	NM_000059.4(BRCA2):c.9118-7_9121del	BRCA2	Pathogenic	13	32954133	32954143	TGTTTTCTGTAG	T	criteria provided, single submitter	ClinGen:CA10602559