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
single nucleotide variant	NM_007294.4(BRCA1):c.4986+4A>G	BRCA1	Likely pathogenic	17	41222941	41222941	T	C	criteria provided, single submitter	ClinGen:CA10584550
single nucleotide variant	NM_007294.4(BRCA1):c.4485-1G>T	BRCA1	Pathogenic	17	41226539	41226539	C	A	reviewed by expert panel	ClinGen:CA10584553
single nucleotide variant	NM_007294.4(BRCA1):c.4484G>C (p.Arg1495Thr)	BRCA1	Pathogenic	17	41228505	41228505	C	G	reviewed by expert panel	ClinGen:CA10584554
single nucleotide variant	NM_007294.4(BRCA1):c.3675C>A (p.Cys1225Ter)	BRCA1	Pathogenic	17	41243873	41243873	G	T	reviewed by expert panel	ClinGen:CA10584560
Duplication	NM_007294.4(BRCA1):c.2693_2694dup (p.Val899fs)	BRCA1	Pathogenic	17	41244853	41244854	C	CTT	reviewed by expert panel	ClinGen:CA10584567
Deletion	NM_007294.4(BRCA1):c.1763_1764del (p.Ser588fs)	BRCA1	Pathogenic	17	41245784	41245785	TGC	T	reviewed by expert panel	ClinGen:CA10584569
Deletion	NM_007294.4(BRCA1):c.516del (p.Gln172fs)	BRCA1	Pathogenic	17	41251823	41251823	GT	G	reviewed by expert panel	ClinGen:CA10584574
Deletion	NM_007294.4(BRCA1):c.442-22_442-13del	BRCA1	Pathogenic	17	41251910	41251919	GGTAAAGAACA	G	reviewed by expert panel	ClinGen:CA10584575
single nucleotide variant	NM_007294.4(BRCA1):c.135-1G>A	BRCA1	Pathogenic/Likely pathogenic	17	41258551	41258551	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584576
single nucleotide variant	NM_058216.3(RAD51C):c.571+1G>T	RAD51C	Likely pathogenic	17	56774221	56774221	G	T	criteria provided, single submitter	ClinGen:CA10584581