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_002878.4(RAD51D):c.766del (p.Asp256fs)	RAD51D	Likely pathogenic	17	33428357	33428357	TC	T	criteria provided, single submitter	-
Deletion	NM_002878.4(RAD51D):c.752del (p.Ile251fs)	RAD51D	Likely pathogenic	17	33428371	33428371	TA	T	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_002878.4(RAD51D):c.243_244insGG (p.Leu82fs)	RAD51D	Pathogenic	17	33445539	33445540	G	GCC	criteria provided, single submitter	-
single nucleotide variant	NM_002878.4(RAD51D):c.141C>G (p.Tyr47Ter)	RAD51D	Pathogenic	17	33446133	33446133	G	C	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.5468_*1383del	BRCA1	Pathogenic	17	41196311	41197818	GGTGGAAGTGTTTGCTACCAAGTTTATTTGCAGTGTTAACAGCACAACATTTACAAAACGTATTTTGTACAATCAAGTCTTCACTGCCCTTGCACACTGGGGGGGCTAGGGAAGACCTAGTCCTTCCAACAGCTATAAACAGTCCTGGATAATGGGTTTATGAAAAACACTTTTTCTTCCTTCAGCAAGCAAAATTATTTATGAAGCTGTATGGTTTCAGCAACAGGGAGCAAAGGAAAAAAATCACCTCAAAGAAAGCAACAGCTTCCTTCCTGGTGGGATCTGTCATTTTATAGATATGAAATATTCATGCCAGAGGTCTTATATTTTAAGAGGAATGGATTATATACCAGAGCTACAACAATAAACATTTTACTTATTACTAATGAGGAATTAGAAGACTGTCTTTGGAAACCGGTTCTTGAAAATCTTCTGCTGTTTTAGAACACATTCTTTAGAAATCTAGCAAATATATCTCAGACTTTTAGAAATCTCTTCTAGTTTCATTTTCCTTTTTTTTTTTTTTTTTTTGAGCCACAGTCTCACTGTCACCCAGGCTGGAGTGCCGTGGTATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGCTGAAGTGATTCTCCTGCCTTAGCCACCTGAGTAGCTGGGATTACAGGTGTCCACCACCATGACCGGCTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCCAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGGTTTCAAGTTTCCTTTTCATTTCTAATACCTGCCTCAGAATTTCCTCCCCAATGTTCCACTCCAACATTTGAGAACTGCCCAAGGACTATTCTGACTTTAAGTCACATAATCGATCCCAAGCACTCTCCTTCCATTGAAGGGTCTGACTCTCTGCCTTTGTGAACACAGGGTTTTAGAGAAGTAAACTTAGGGAAACCAGCTATTCTCTTGAGGCCAAGCCACTCTGTGCTTCCAGCCCTAAGCCAACAACAGCCTGAATAGAAAGAATAGGGCTGATAAATAATGAATCAGCATCTTGCTCAATTGGTGGCGTTTAAATGGTTTTAAAATCTTCTCAGGTGAAAAATTACCATAATTTTGTGCTCATGGCAGATTTCCAAGGGAGACTTCAAGCAGAAAATCTTTAAGGGACCCTTGCATAGCCAGAAGTCCTTTTCAGGCTGATGTACATAAAATATTTAGTAGCCAGGACAGTAGAAGGACTGAAGAGTGAGAGGAGCTCCCAGGGCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATT	G	criteria provided, single submitter	-
Insertion	NM_007294.4(BRCA1):c.5517_5518insC (p.Asp1840fs)	BRCA1	Likely pathogenic	17	41197769	41197770	C	CG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr)	BRCA1	Likely pathogenic	17	41201184	41201184	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007294.4(BRCA1):c.4942A>T (p.Lys1648Ter)	BRCA1	Pathogenic	17	41222989	41222989	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.4782del (p.Ser1595fs)	BRCA1	Pathogenic	17	41223149	41223149	AT	A	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.4754dup (p.Glu1586fs)	BRCA1	Pathogenic	17	41223176	41223177	T	TG	criteria provided, single submitter	-