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_058216.3(RAD51C):c.145+2T>G	RAD51C	Pathogenic/Likely pathogenic	17	56770151	56770151	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042171
single nucleotide variant	NM_000059.4(BRCA2):c.8557A>T (p.Lys2853Ter)	BRCA2	Pathogenic	13	32945162	32945162	A	T	reviewed by expert panel	ClinGen:CA16042861
single nucleotide variant	NM_000059.4(BRCA2):c.2266C>T (p.Gln756Ter)	BRCA2	Pathogenic	13	32910758	32910758	C	T	reviewed by expert panel	ClinGen:CA16043337
single nucleotide variant	NM_000059.4(BRCA2):c.4962T>A (p.Cys1654Ter)	BRCA2	Pathogenic	13	32913454	32913454	T	A	reviewed by expert panel	ClinGen:CA16043338
Deletion	NM_000059.4(BRCA2):c.6014_6017del (p.Asp2005fs)	BRCA2	Pathogenic	13	32914504	32914507	AAGAT	A	reviewed by expert panel	ClinGen:CA16043339
single nucleotide variant	NM_000059.4(BRCA2):c.6550C>T (p.Gln2184Ter)	BRCA2	Pathogenic	13	32915042	32915042	C	T	reviewed by expert panel	ClinGen:CA16043340
Insertion	NM_007294.4(BRCA1):c.5463_5464insT (p.His1822fs)	BRCA1	Pathogenic	17	41199663	41199664	G	GA	reviewed by expert panel	ClinGen:CA16043341
Deletion	Single allele	BRCA2	Pathogenic	13	32900715	32915032	na	na	criteria provided, single submitter	-
Deletion	Single allele	BRCA1	Pathogenic	17	41189422	41200474	na	na	criteria provided, single submitter	-
Indel	NM_007294.3(BRCA1):c.5468-285_*4016delinsCA	BRCA1	Pathogenic	17	41193679	41198104	GCCCCACCTGTCTGGGATTCAGTGGGTCTGGGAATTTGCATATCTAACAAATTCCTAGGTGATGGTGTTGCCCCCTCACACTCCTATCAGGGGATCATGCTTTGAGAGCCTCTGCACTGAACTGTAAATGTTAAGCTGTCATATCATTTTGAGTCCTTGAAACCATGTCTCCACAGTTCATATTCCCCAGCCACCAGAGTCGGGAGGATCTCTCTCCAGATCTTGATTCCTACCAGTCCCTTAAACAATTGCTTACATTTTCCTGATCCTCCAGACATTCAGGATCAGCCCCTCTACACCTCCCCAATCCCTGCTCTCCATAGGAGCTGTTTCTAGTTTTCCTTAATTTTCTATTTGGCCAGATTCGTTGCTTTAATTTTCTCCTTGTTACAGGCAGAGTTACAGGCTGTTCAAGAAAACCAGGCATCACTGTAGTGGAAGGGGTTGCCGGCTCAGCCATTTTCCAGTAGTCTTTGATAAGTGAGCCCCCACATTCCCTGGGCAGCAGGCCCCATTCTCTAGGGCTTCTTTGCATAAATCTGCAGCTCCCCCTCATCCTGCCATTCTGTGTGTGCCATCTGCCTCTGGGGCTGACCTTATCTGCTCCTCGCAGCCTTCAGAGGACACCTTCTGGGCAGTTTGGCTCCTTCTGCTCCAACCACCCCAACATTGATTCCTTTCTTTTTCTCCTGCATATTTTTGAGGTGATACTTTGTTGATGATTCTGGTTGCATTTTTTAAGAGGGACATAATCTGCCAGAGCTCTTCTCTAGGCCCCCTCCCTGTGCCTGCATGATAATCCTTTCTCCTCCTTCCTTTCCAGCTTCTTTGTAGAAGTTTGTTTTGTAAAATGAGATAAAGGCAGTACAGGAACTAGTTCCCAATTGCTGCTGTGCCCAGAGAGGGCTAGAGATTGCGGGGTGGAAAAGTGGGAGGACATCTTAAAGTCAGAGGTCAAAGCAACGTGTATTAACTCCATCATCAGGTAGCACTCTTAACCTGGGCCAGGCACCATGAGGCCAGGGCCTGAACTTGACTTCTGGGAAAGGTTATGCAGAGCTTGAAACAGATGGGGTATATGTTTGTTGGGAGACCTTAGAGACAATTACAGAAAACTTTAATGTATTTTAGTCATCTTTGCTTTTACTCACTATTCCTGAAAAGGCAGGCTGTACTAGATGGATACTGCTTTTCCTATTAACCCATTAGTGATGGGGTCAGAAGGCTGAGGCCTGGCTTACCCTCAAGGCCCAGTAGCACTTCTGCTTGCTTCCCGCCTGCCTTTACTACTAACACCGAGACTCATCAACTCACTGGCAGGTAGACAGGGAGCTGGCATGGGCCCTTGGGAAGTCAAGCTGTAGGTGAGGATGAACTGGAAGGCTTTGACAACTAAGATACACAGTCATAAGCTGGGAAGCCAGAGAGAAGTGGAAACAGCAGCCATGATCCACTCCTGTAAGACCCTTTGCCTGACATGGGGCTGCTTTTACTGTCTCCTACTGTGGCCCAAAAGGGAAGTGAGTGTGAGTTCCCCTCAAAATCTAGTTCTCTCTCCAAATTCCCTTAAGGCTTGAACCTTCTGTCCCGGGGTCAGTGACAGAGGCAGATGGAAAGCTGATGATGGGAACAGAAAGGTGGCTTTGGGTCTCCATGTAGTCATTTTTAGCTGTGCAAATCTGAGTAAAATCTTACAAACAAGGAACTTGAGATTCAACTCCCATTTTTCCAATGAGGTAACAAATACCCACTTCATAGGGCTATGATGAAGACTGATATAAAATGTAATATTGGCAGTTAGCTCCATTTTCTCTATCTTCCTTCACTGTTTCCAGCAAATACAGCAGGACTGAACTATGTGATGACTTCATTCTCTTTGCTCAAAAAGGATTCCAATCTCTGAGCAGTGTGAGGACCAGGAAATAATGGTAGAGAGTGTCATCTGTGGATTAAGCATGTTAAATACAAGTGGTAGGCAGAATTCTAAAGATGTCCTCCCTTGATTGCTGTCTTCTGGTTATTCATTCCAACAGTAATCTAGGTACTGCTGCGAAGGGACTTTGCAGCTATAATTAAGGCTATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTTATTTTGGCCTCATGAAACCTGAAACAAAGAAACAGTTGAGCCACCTCAGACTTCTGACCTTGCAACAATTTGTTTTGGCAGCAACAGGAAATACAAAAGGTATTTAAGCTGCCTCAATAAATCCTAGGAGGTAGATACTATCATTACCCCCATTTTACAGAGTGGGAGACTGAAGCACAGTGAAAAGGCTCTGAGAAAGTCGGCTGGCCTAAGTCTCAAGAACAGTCATTCATGGTGGAAGTGTTTGCTACCAAGTTTATTTGCAGTGTTAACAGCACAACATTTACAAAACGTATTTTGTACAATCAAGTCTTCACTGCCCTTGCACACTGGGGGGGCTAGGGAAGACCTAGTCCTTCCAACAGCTATAAACAGTCCTGGATAATGGGTTTATGAAAAACACTTTTTCTTCCTTCAGCAAGCAAAATTATTTATGAAGCTGTATGGTTTCAGCAACAGGGAGCAAAGGAAAAAAATCACCTCAAAGAAAGCAACAGCTTCCTTCCTGGTGGGATCTGTCATTTTATAGATATGAAATATTCATGCCAGAGGTCTTATATTTTAAGAGGAATGGATTATATACCAGAGCTACAACAATAAACATTTTACTTATTACTAATGAGGAATTAGAAGACTGTCTTTGGAAACCGGTTCTTGAAAATCTTCTGCTGTTTTAGAACACATTCTTTAGAAATCTAGCAAATATATCTCAGACTTTTAGAAATCTCTTCTAGTTTCATTTTCCTTTTTTTTTTTTTTTTTTTGAGCCACAGTCTCACTGTCACCCAGGCTGGAGTGCCGTGGTATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGCTGAAGTGATTCTCCTGCCTTAGCCACCTGAGTAGCTGGGATTACAGGTGTCCACCACCATGACCGGCTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCCAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGGTTTCAAGTTTCCTTTTCATTTCTAATACCTGCCTCAGAATTTCCTCCCCAATGTTCCACTCCAACATTTGAGAACTGCCCAAGGACTATTCTGACTTTAAGTCACATAATCGATCCCAAGCACTCTCCTTCCATTGAAGGGTCTGACTCTCTGCCTTTGTGAACACAGGGTTTTAGAGAAGTAAACTTAGGGAAACCAGCTATTCTCTTGAGGCCAAGCCACTCTGTGCTTCCAGCCCTAAGCCAACAACAGCCTGAATAGAAAGAATAGGGCTGATAAATAATGAATCAGCATCTTGCTCAATTGGTGGCGTTTAAATGGTTTTAAAATCTTCTCAGGTGAAAAATTACCATAATTTTGTGCTCATGGCAGATTTCCAAGGGAGACTTCAAGCAGAAAATCTTTAAGGGACCCTTGCATAGCCAGAAGTCCTTTTCAGGCTGATGTACATAAAATATTTAGTAGCCAGGACAGTAGAAGGACTGAAGAGTGAGAGGAGCTCCCAGGGCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCGAGGCTAGAGTGTGATGGCGCAATCTCGGCTCATTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCTGCCTCCTGAGTAGCTGGAATTACAGGCACATGCCATCACACCCAGCTA	TG	criteria provided, single submitter	ClinGen:CA16043342