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
Insertion	NM_007294.4(BRCA1):c.2077_2078insTA (p.Asp693fs)	BRCA1	Pathogenic	17	41245470	41245471	T	TTA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2196&base_change=ins TA,ClinGen:CA001375
Insertion	NM_007294.4(BRCA1):c.2098_2099insA (p.Leu700fs)	BRCA1	Pathogenic	17	41245449	41245450	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2217&base_change=ins A,ClinGen:CA001388
Duplication	NM_007294.4(BRCA1):c.2188dup (p.Glu730fs)	BRCA1	Pathogenic	17	41245359	41245360	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2307&base_change=ins G,ClinGen:CA001459
Deletion	NM_007294.4(BRCA1):c.2214del (p.Val740fs)	BRCA1	Pathogenic	17	41245334	41245334	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2333&base_change=del T,ClinGen:CA001482
Insertion	NM_007294.4(BRCA1):c.2215_2216insCT (p.Lys739fs)	BRCA1	Pathogenic	17	41245332	41245333	T	TAG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2334&base_change=ins CT,ClinGen:CA001483
Duplication	NM_007294.4(BRCA1):c.2217dup (p.Val740fs)	BRCA1	Pathogenic	17	41245330	41245331	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2336&base_change=ins A,ClinGen:CA001487
Duplication	NM_007294.4(BRCA1):c.2273dup (p.Leu758fs)	BRCA1	Pathogenic	17	41245274	41245275	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2392&base_change=ins T,ClinGen:CA001517
Deletion	NM_007294.4(BRCA1):c.2337_2338del (p.Gln780fs)	BRCA1	Pathogenic	17	41245210	41245211	TGA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2456&base_change=del TC,ClinGen:CA001560
Duplication	NM_007294.4(BRCA1):c.2355dup (p.Leu786fs)	BRCA1	Pathogenic	17	41245192	41245193	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2474&base_change=ins A,ClinGen:CA001573
Deletion	NM_007294.4(BRCA1):c.2376del (p.Lys793fs)	BRCA1	Pathogenic	17	41245172	41245172	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2495&base_change=del G,ClinGen:CA001581