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.4528del (p.Met1510fs)	BRCA1	Pathogenic	17	41226495	41226495	AT	A	reviewed by expert panel	ClinGen:CA002894
Deletion	NM_007294.4(BRCA1):c.4534_4535del (p.Ser1512fs)	BRCA1	Pathogenic	17	41226488	41226489	ACT	A	reviewed by expert panel	ClinGen:CA002896
single nucleotide variant	NM_007294.4(BRCA1):c.4552C>T (p.Gln1518Ter)	BRCA1	Pathogenic	17	41226471	41226471	G	A	reviewed by expert panel	ClinGen:CA002902
Deletion	NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs)	BRCA1	Pathogenic	17	41226448	41226449	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4693&base_change=del AA,ClinGen:CA002907
Deletion	NM_007294.4(BRCA1):c.4575_4585del (p.Gln1525fs)	BRCA1	Pathogenic	17	41226438	41226448	ATGAGCTCCTCT	A	reviewed by expert panel	ClinGen:CA002910
Deletion	NM_007294.4(BRCA1):c.457_458del (p.Ser153fs)	BRCA1	Pathogenic	17	41251881	41251882	ACT	A	reviewed by expert panel	ClinGen:CA002908
Insertion	NM_007294.4(BRCA1):c.4595_4596insCT (p.Asp1533fs)	BRCA1	Pathogenic	17	41226427	41226428	A	AAG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4713&base_change=ins TC,Breast Cancer Information Core (BIC) (BRCA1):4714&base_change=ins CT,ClinGen:CA002919
single nucleotide variant	NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter)	BRCA1	Pathogenic	17	41226420	41226420	C	A	reviewed by expert panel	ClinGen:CA002924
single nucleotide variant	NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter)	BRCA1	Pathogenic	17	41226414	41226414	G	A	reviewed by expert panel	ClinGen:CA002926
Insertion	NM_007294.4(BRCA1):c.4611_4612insG (p.Gln1538fs)	BRCA1	Pathogenic	17	41226411	41226412	G	GC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4730&base_change=ins G,ClinGen:CA002927