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
Duplication	NM_007294.4(BRCA1):c.841_842dup (p.Ser281fs)	BRCA1	Pathogenic	17	41246705	41246706	G	GCT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):961&base_change=ins AG,ClinGen:CA003934
single nucleotide variant	NM_007294.4(BRCA1):c.784C>T (p.Gln262Ter)	BRCA1	Pathogenic	17	41246764	41246764	G	A	reviewed by expert panel	ClinGen:CA10586665
Deletion	NM_007294.4(BRCA1):c.745_746del (p.Thr248_Thr249insTer)	BRCA1	Pathogenic	17	41246802	41246803	AGT	A	reviewed by expert panel	ClinGen:CA10586666
single nucleotide variant	NM_007294.4(BRCA1):c.737T>A (p.Leu246Ter)	BRCA1	Pathogenic	17	41246811	41246811	A	T	reviewed by expert panel	ClinGen:CA10586667
Deletion	NM_007294.4(BRCA1):c.475del (p.Gly160fs)	BRCA1	Pathogenic	17	41251864	41251864	AG	A	reviewed by expert panel	ClinGen:CA10586668
Deletion	NM_007294.4(BRCA1):c.464_465del (p.Gln155fs)	BRCA1	Pathogenic	17	41251874	41251875	GTT	G	reviewed by expert panel	ClinGen:CA10586669
Deletion	NM_007294.4(BRCA1):c.465del (p.Gln155fs)	BRCA1	Pathogenic	17	41251874	41251874	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):583&base_change=del A,ClinGen:CA002948
Deletion	NM_007294.4(BRCA1):c.397del (p.Arg133fs)	BRCA1	Pathogenic	17	41256183	41256183	CG	C	reviewed by expert panel	ClinGen:CA10586670
single nucleotide variant	NM_007294.4(BRCA1):c.390C>G (p.Tyr130Ter)	BRCA1	Pathogenic	17	41256190	41256190	G	C	reviewed by expert panel	ClinGen:CA10586671
single nucleotide variant	NM_007294.4(BRCA1):c.280C>T (p.Gln94Ter)	BRCA1	Pathogenic	17	41256906	41256906	G	A	reviewed by expert panel	ClinGen:CA10586672