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_007294.3(BRCA1):c.4186-?_4986+?del	BRCA1	Pathogenic	17	41222945	41234592	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.4358-?_5277+?del	BRCA1	Pathogenic	17	41209069	41228631	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.3(BRCA1):c.4485-?_4986+?del	BRCA1	Pathogenic	17	41222945	41226538	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.3(BRCA1):c.4987-?_5074+?del	BRCA1	Pathogenic	17	41219625	41219712	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.3(BRCA1):c.?-232_4484+?del	BRCA1	Pathogenic	17	41228505	41277500	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.548-?_5193+?del	BRCA1	Pathogenic	17	41215891	41249306	na	na	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000059.4(BRCA2):c.5343_5344insA (p.Gln1782fs)	BRCA2	Likely pathogenic	13	32913835	32913836	T	TA	criteria provided, single submitter	ClinGen:CA022051
Deletion	NM_000059.4(BRCA2):c.5352del (p.Asn1784fs)	BRCA2	Pathogenic	13	32913844	32913844	AC	A	reviewed by expert panel	ClinGen:CA022119
Deletion	NM_000059.4(BRCA2):c.5584_5587del (p.Val1862fs)	BRCA2	Pathogenic	13	32914075	32914078	AAGTG	A	reviewed by expert panel	ClinGen:CA022639
Deletion	NM_000059.4(BRCA2):c.5692del (p.Asp1898fs)	BRCA2	Pathogenic	13	32914183	32914183	TG	T	reviewed by expert panel	ClinGen:CA022994