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
Insertion	NM_000059.4(BRCA2):c.9384_9385insG (p.Pro3129fs)	BRCA2	Pathogenic	13	32968953	32968954	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9612&base_change=ins G,ClinGen:CA026129
Duplication	NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)	BRCA2	Pathogenic	13	32972321	32972322	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9900&base_change=ins A,ClinGen:CA026263,OMIM:600185.0019
Deletion	NM_000059.4(BRCA2):c.9152del (p.Pro3051fs)	BRCA2	Pathogenic	13	32954177	32954177	GC	G	reviewed by expert panel	ClinGen:CA026005
single nucleotide variant	NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)	RAD51D	Pathogenic/Likely pathogenic	17	33430317	33430317	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA287986
Deletion	NM_002878.4(RAD51D):c.748del (p.His250fs)	RAD51D	Pathogenic/Likely pathogenic	17	33428375	33428375	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA287989
Deletion	NM_058216.3(RAD51C):c.1026+5_1026+7del	RAD51C	Pathogenic/Likely pathogenic	17	56809909	56809911	CAGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA331897
single nucleotide variant	NM_058216.3(RAD51C):c.706-2A>G	RAD51C	Pathogenic/Likely pathogenic	17	56787218	56787218	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA288628
Deletion	NM_000059.3(BRCA2):c.(?_-1)_67+?del	BRCA2	Pathogenic	13	32890470	32890470	na	na	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.2506del (p.Glu836fs)	BRCA1	Pathogenic	17	41245042	41245042	TC	T	reviewed by expert panel	ClinGen:CA001659
Deletion	NM_007294.4(BRCA1):c.3874del (p.Ser1292fs)	BRCA1	Pathogenic	17	41243674	41243674	GA	G	reviewed by expert panel	ClinGen:CA002496