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.2120del (p.Gly707fs)	BRCA1	Pathogenic	17	41245428	41245428	AC	A	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2099_2100insA (p.Lys701fs)	BRCA1	Pathogenic	17	41245448	41245449	C	CT	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2079_2080insTA (p.Ser694Ter)	BRCA1	Pathogenic	17	41245468	41245469	T	TTA	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.2039_2040insCC (p.Lys680fs)	BRCA1	Pathogenic	17	41245508	41245509	C	CGG	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.1964_1965insG (p.Tyr655Ter)	BRCA1	Pathogenic	17	41245583	41245584	G	GC	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.1950_1951insCA (p.Lys651fs)	BRCA1	Pathogenic	17	41245597	41245598	T	TTG	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.1894_1895insT (p.Ser632fs)	BRCA1	Pathogenic	17	41245653	41245654	C	CA	reviewed by expert panel	-
single nucleotide variant	NM_007294.4(BRCA1):c.1885A>T (p.Arg629Ter)	BRCA1	Pathogenic	17	41245663	41245663	T	A	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.1882_1883insCC (p.Ser628fs)	BRCA1	Pathogenic	17	41245665	41245666	C	CGG	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.1880_1881insAGTT (p.Ser628fs)	BRCA1	Pathogenic	17	41245667	41245668	G	GAACT	reviewed by expert panel	-