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.3862del (p.Glu1288fs)	BRCA1	Pathogenic	17	41243686	41243686	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3981&base_change=del G,ClinGen:CA002489
Deletion	NM_007294.4(BRCA1):c.3869_3870del (p.Lys1290fs)	BRCA1	Pathogenic	17	41243678	41243679	ATT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3988&base_change=del AA,ClinGen:CA002493
Insertion	NM_007294.4(BRCA1):c.3871_3872insC (p.Cys1291fs)	BRCA1	Pathogenic	17	41243676	41243677	C	CG	reviewed by expert panel	ClinGen:CA002495
Deletion	NM_007294.4(BRCA1):c.3876del (p.Ala1293fs)	BRCA1	Pathogenic	17	41243672	41243672	CA	C	reviewed by expert panel	ClinGen:CA002498
Deletion	NM_007294.4(BRCA1):c.3880_3883del (p.Ser1294fs)	BRCA1	Pathogenic	17	41243665	41243668	AAGCT	A	reviewed by expert panel	ClinGen:CA002502
single nucleotide variant	NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)	BRCA1	Pathogenic	17	41243655	41243655	G	T	reviewed by expert panel	ClinGen:CA002504
single nucleotide variant	NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter)	BRCA1	Pathogenic	17	41243653	41243653	G	A	reviewed by expert panel	ClinGen:CA002505
Deletion	NM_007294.4(BRCA1):c.3901_3902del (p.Cys1300_Ser1301insTer)	BRCA1	Pathogenic	17	41243646	41243647	ACT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4020&base_change=del AG,ClinGen:CA002510
single nucleotide variant	NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter)	BRCA1	Pathogenic	17	41243644	41243644	C	A	reviewed by expert panel	ClinGen:CA002513
single nucleotide variant	NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter)	BRCA1	Pathogenic	17	41256190	41256190	G	T	reviewed by expert panel	ClinGen:CA002515