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.2210del (p.Thr737fs)	BRCA1	Pathogenic	17	41245338	41245338	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2329&base_change=del C,ClinGen:CA001478
Deletion	NM_007294.4(BRCA1):c.2211_2212del (p.Thr737_Val738insTer)	BRCA1	Pathogenic	17	41245336	41245337	ACT	A	reviewed by expert panel	ClinGen:CA001479
Deletion	NM_007294.4(BRCA1):c.2212_2215del (p.Val738fs)	BRCA1	Pathogenic	17	41245333	41245336	TTAAC	T	reviewed by expert panel	ClinGen:CA001480
single nucleotide variant	NM_007294.4(BRCA1):c.2215A>T (p.Lys739Ter)	BRCA1	Pathogenic	17	41245333	41245333	T	A	reviewed by expert panel	ClinGen:CA001484
Deletion	NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs)	BRCA1	Pathogenic	17	41245331	41245332	CTT	C	reviewed by expert panel	ClinGen:CA001485
Duplication	NM_007294.4(BRCA1):c.2236dup (p.Asp746fs)	BRCA1	Pathogenic	17	41245311	41245312	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2355&base_change=ins G,ClinGen:CA001497
Deletion	NM_007294.4(BRCA1):c.2241del (p.Asp749fs)	BRCA1	Pathogenic	17	41245307	41245307	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2360&base_change=del C,ClinGen:CA001500
Duplication	NM_007294.4(BRCA1):c.2241dup (p.Lys748fs)	BRCA1	Pathogenic	17	41245306	41245307	T	TG	reviewed by expert panel	ClinGen:CA001499
Deletion	NM_007294.4(BRCA1):c.2248_2252del (p.Leu750fs)	BRCA1	Pathogenic	17	41245296	41245300	CATGAG	C	reviewed by expert panel	ClinGen:CA001507
Deletion	NM_007294.4(BRCA1):c.224_227del (p.Glu75fs)	BRCA1	Pathogenic	17	41256959	41256962	ACTTT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):343&base_change=del AAAG,ClinGen:CA001501