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	NG_012772.3:g.(?_5001)_(88292_?)del	BRCA2	Pathogenic	13	32889617	32972908	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32315480)_(32398790_?)del	BRCA2	Pathogenic	13	32889617	32972927	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32315480)_(32316547_?)del	BRCA2	Pathogenic	13	32889617	32890684	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32315480)_(32371120_?)del	BRCA2	Pathogenic	13	32889617	32945257	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32315480)_(32319345_?)del	BRCA2	Pathogenic	13	32889617	32893482	na	na	criteria provided, single submitter	-
Deletion	NM_000059.3(BRCA2):c.(?_-1)_67+?del	BRCA2	Pathogenic	13	32890470	32890470	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.-39-1_-39del	BRCA2	Likely pathogenic	13	32890557	32890558	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6940297
single nucleotide variant	NM_000059.4(BRCA2):c.-39-2A>G	BRCA2	Pathogenic/Likely pathogenic	13	32890557	32890557	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509354
Deletion	NM_000059.3(BRCA2):c.-39-?_67+?del	BRCA2	Pathogenic	13	32890559	32890664	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000013.11:g.(?_32316422)_(32355288_?)del	BRCA2	Pathogenic	13	32890559	32929425	na	na	criteria provided, single submitter	-