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_007294.4(BRCA1):c.3106_3109del (p.Phe1036fs)	BRCA1	Pathogenic	17	41244439	41244442	TTAAA	T	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.2875A>T (p.Arg959Ter)	BRCA1	Pathogenic	17	41244673	41244673	T	A	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.2083del (p.Asp695fs)	BRCA1	Pathogenic	17	41245465	41245465	TC	T	criteria provided, single submitter	-
Indel	NM_007294.4(BRCA1):c.1757_1760delinsGA (p.Pro586fs)	BRCA1	Pathogenic	17	41245788	41245791	ATAG	TC	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.1760dup (p.Ser588fs)	BRCA1	Pathogenic	17	41245787	41245788	T	TA	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.1194dup (p.His399fs)	BRCA1	Pathogenic	17	41246353	41246354	G	GT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.1009_1010del (p.Glu337fs)	BRCA1	Pathogenic	17	41246538	41246539	TTC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.424_431del (p.Pro142fs)	BRCA1	Pathogenic	17	41256149	41256156	ATTTTCGGG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.374dup (p.Gln126fs)	BRCA1	Pathogenic	17	41256205	41256206	G	GA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_058216.3(RAD51C):c.444del (p.Phe148fs)	RAD51C	Pathogenic/Likely pathogenic	17	56774090	56774090	GT	G	criteria provided, multiple submitters, no conflicts	-