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
Duplication	NM_007294.4(BRCA1):c.1575dup (p.Gln526fs)	BRCA1	Pathogenic	17	41245972	41245973	G	GA	reviewed by expert panel	ClinGen:CA10586097
Deletion	NM_007294.4(BRCA1):c.1759_1762del (p.Ile587fs)	BRCA1	Pathogenic	17	41245786	41245789	CTTAT	C	reviewed by expert panel	ClinGen:CA10586098
Deletion	NM_007294.4(BRCA1):c.2719del (p.Glu907fs)	BRCA1	Pathogenic	17	41244829	41244829	TC	T	reviewed by expert panel	ClinGen:CA10586100
Deletion	NM_007294.4(BRCA1):c.3257del (p.Arg1085_Leu1086insTer)	BRCA1	Pathogenic	17	41244291	41244291	TA	T	reviewed by expert panel	ClinGen:CA10586103
single nucleotide variant	NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter)	BRCA1	Pathogenic	17	41256177	41256177	T	A	reviewed by expert panel	ClinGen:CA10586106
Deletion	NM_007294.4(BRCA1):c.4888_4889del (p.Glu1630fs)	BRCA1	Pathogenic	17	41223042	41223043	TTC	T	reviewed by expert panel	ClinGen:CA10586110
Deletion	NM_000059.3(BRCA2):c.-39-?_67+?del	BRCA2	Pathogenic	13	32890559	32890664	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.7598_7617+263del	BRCA2	Pathogenic	13	32930726	32931008	CTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTCAAATCTTTCTTATTTTGTCATTGTAAA	C	criteria provided, single submitter	ClinGen:CA10586327
Deletion	NM_007294.3(BRCA1):c.-19-?_4185+?del	BRCA1	Pathogenic	17	41242961	41276132	na	na	criteria provided, single submitter	-
Duplication	NM_007294.3(BRCA1):c.5075-?_5277+?dup203	BRCA1	Pathogenic/Likely pathogenic	17	41209069	41215968	na	na	criteria provided, multiple submitters, no conflicts	-