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.213-12A>G	BRCA1	Pathogenic	17	41256985	41256985	T	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):332-12&base_change=A to G,ClinGen:CA001426
single nucleotide variant	NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)	BRCA1	Pathogenic	17	41245410	41245410	G	C	reviewed by expert panel	ClinGen:CA001436
single nucleotide variant	NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter)	BRCA1	Pathogenic	17	41245390	41245390	C	A	reviewed by expert panel	ClinGen:CA001445
Deletion	NM_007294.4(BRCA1):c.2210_2211del (p.Thr737fs)	BRCA1	Pathogenic	17	41245337	41245338	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2329&base_change=del CA,ClinGen:CA001477
Duplication	NM_007294.4(BRCA1):c.2213_2214dup (p.Lys739fs)	BRCA1	Pathogenic	17	41245333	41245334	T	TAA	reviewed by expert panel	ClinGen:CA001481
Deletion	NM_007294.4(BRCA1):c.2269del (p.Val757fs)	BRCA1	Pathogenic	17	41245279	41245279	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2388&base_change=del G,ClinGen:CA001516
Deletion	NM_007294.4(BRCA1):c.2299del (p.Ser767fs)	BRCA1	Pathogenic	17	41245249	41245249	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2418&base_change=del A,ClinGen:CA001533
Deletion	NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)	BRCA1	Pathogenic	17	41245136	41245137	ACT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2530&base_change=del AG,ClinGen:CA001605
Deletion	NM_007294.4(BRCA1):c.2424del (p.Phe808fs)	BRCA1	Pathogenic	17	41245124	41245124	CA	C	reviewed by expert panel	ClinGen:CA001618
Deletion	NM_007294.4(BRCA1):c.2433del (p.Lys812fs)	BRCA1	Pathogenic	17	41245115	41245115	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2552&base_change=del C,ClinGen:CA001624