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.1492del (p.Leu498fs)	BRCA1	Pathogenic	17	41246056	41246056	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1611&base_change=del C,ClinGen:CA001001
Duplication	NM_007294.4(BRCA1):c.1499_1508dup (p.Lys503_Arg504insTer)	BRCA1	Pathogenic	17	41246039	41246040	C	CTTTAATTTAT	reviewed by expert panel	ClinGen:CA356573
Deletion	NM_007294.4(BRCA1):c.1499del (p.Asn500fs)	BRCA1	Pathogenic	17	41246049	41246049	AT	A	reviewed by expert panel	ClinGen:CA001004
Deletion	NM_007294.4(BRCA1):c.1506_1510del (p.Leu502_Lys503insTer)	BRCA1	Pathogenic	17	41246038	41246042	CGCTTT	C	reviewed by expert panel	ClinGen:CA001009
Deletion	NM_007294.4(BRCA1):c.1508del (p.Lys503fs)	BRCA1	Pathogenic	17	41246040	41246040	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1627&base_change=del A,ClinGen:CA001012
Deletion	NM_007294.4(BRCA1):c.150del (p.Lys50fs)	BRCA1	Pathogenic	17	41258535	41258535	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):269&base_change=del A,ClinGen:CA001014
Duplication	NM_007294.4(BRCA1):c.1511dup (p.Arg504_Lys505insTer)	BRCA1	Pathogenic	17	41246036	41246037	A	AC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1630&base_change=ins G,ClinGen:CA001017
single nucleotide variant	NM_007294.4(BRCA1):c.1513A>T (p.Lys505Ter)	BRCA1	Pathogenic	17	41246035	41246035	T	A	reviewed by expert panel	ClinGen:CA001022
Insertion	NM_007294.4(BRCA1):c.1513_1514insT (p.Lys505fs)	BRCA1	Pathogenic	17	41246034	41246035	T	TA	reviewed by expert panel	ClinGen:CA001021
Deletion	NM_007294.4(BRCA1):c.1517_1521del (p.Arg506fs)	BRCA1	Pathogenic	17	41246027	41246031	GTCTCC	G	reviewed by expert panel	ClinGen:CA001023