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.135-1G>T	BRCA1	Pathogenic	17	41258551	41258551	C	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):254-1&base_change=G to T,ClinGen:CA000895
Indel	NM_007294.4(BRCA1):c.1389_1390delinsG (p.Thr464fs)	BRCA1	Pathogenic	17	41246158	41246159	TT	C	reviewed by expert panel	ClinGen:CA000927,Breast Cancer Information Core (BIC) (BRCA1):1508&base_change=del AA ins G
Deletion	NM_007294.4(BRCA1):c.143del (p.Met48fs)	BRCA1	Pathogenic	17	41258542	41258542	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):262&base_change=del T,ClinGen:CA000963
Deletion	NM_007294.4(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer)	BRCA1	Pathogenic	17	41246101	41246104	ATAAT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1563&base_change=del ATTA,ClinGen:CA000965
single nucleotide variant	NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter)	BRCA1	Pathogenic	17	41246068	41246068	G	A	reviewed by expert panel	ClinGen:CA000991
Deletion	NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)	BRCA1	Pathogenic	17	41246040	41246044	CTTTAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1623&base_change=del TTAAA,ClinGen:CA353757
Deletion	NM_007294.4(BRCA1):c.1510del (p.Arg504fs)	BRCA1	Pathogenic	17	41246038	41246038	CG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1629&base_change=del C,ClinGen:CA353756
Deletion	NM_007294.4(BRCA1):c.1674del (p.Gly559fs)	BRCA1	Pathogenic	17	41245874	41245874	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1793&base_change=del A,ClinGen:CA001103
single nucleotide variant	NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)	BRCA1	Pathogenic	17	41245861	41245861	G	A	reviewed by expert panel	ClinGen:CA001106
Duplication	NM_007294.4(BRCA1):c.1728dup (p.Glu577fs)	BRCA1	Pathogenic	17	41245819	41245820	C	CT	reviewed by expert panel	ClinGen:CA001130