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.1854del (p.Arg618fs)	BRCA1	Pathogenic	17	41245694	41245694	GC	G	reviewed by expert panel	ClinGen:CA001206
Duplication	NM_007294.4(BRCA1):c.1921dup (p.Ile641fs)	BRCA1	Pathogenic	17	41245626	41245627	A	AT	reviewed by expert panel	ClinGen:CA001266
Deletion	NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)	BRCA1	Pathogenic	17	41245592	41245595	TTTTC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2072&base_change=del GAAA,Breast Cancer Information Core (BIC) (BRCA1):2017&base_change=del GAAA,ClinGen:CA001293
single nucleotide variant	NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter)	BRCA1	Pathogenic	17	41245588	41245588	T	A	reviewed by expert panel	ClinGen:CA001303
Deletion	NM_007294.4(BRCA1):c.1961del (p.Lys654fs)	BRCA1	Pathogenic	17	41245587	41245587	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2080&base_change=del A,ClinGen:CA001306
Deletion	NM_007294.4(BRCA1):c.1972del (p.Met658fs)	BRCA1	Pathogenic	17	41245576	41245576	AT	A	reviewed by expert panel	ClinGen:CA001317
Deletion	NM_007294.4(BRCA1):c.2071del (p.Arg691fs)	BRCA1	Pathogenic	17	41245477	41245477	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2187&base_change=del A,Breast Cancer Information Core (BIC) (BRCA1):2190&base_change=del A,ClinGen:CA001367
Duplication	NM_007294.4(BRCA1):c.2105dup (p.Leu702fs)	BRCA1	Pathogenic	17	41245442	41245443	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2224&base_change=ins T,ClinGen:CA001393
single nucleotide variant	NM_007294.4(BRCA1):c.212+1G>A	BRCA1	Pathogenic	17	41258472	41258472	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):331+1&base_change=G to A,ClinGen:CA001405
single nucleotide variant	NM_007294.4(BRCA1):c.213-11T>G	BRCA1	Pathogenic	17	41256984	41256984	A	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):332-11&base_change=T to G,ClinGen:CA001424,OMIM:113705.0004