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.3351dup (p.Gln1118fs)	BRCA1	Pathogenic	17	41244196	41244197	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3470&base_change=ins T,ClinGen:CA002171
Deletion	NM_007294.4(BRCA1):c.3357del (p.Val1120fs)	BRCA1	Pathogenic	17	41244191	41244191	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3476&base_change=del T,ClinGen:CA002177
Duplication	NM_007294.4(BRCA1):c.3462dup (p.Asp1155fs)	BRCA1	Pathogenic	17	41244085	41244086	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3581&base_change=ins A,ClinGen:CA002233
Deletion	NM_007294.4(BRCA1):c.243del (p.Gln81fs)	BRCA1	Pathogenic	17	41256943	41256943	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):362&base_change=del A,ClinGen:CA001628
Deletion	NM_007294.4(BRCA1):c.3548_3549del (p.Lys1183fs)	BRCA1	Pathogenic	17	41243999	41244000	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3667&base_change=del AA,ClinGen:CA002268
Duplication	NM_007294.4(BRCA1):c.3620dup (p.Lys1208fs)	BRCA1	Pathogenic	17	41243927	41243928	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3739&base_change=ins A,ClinGen:CA002315
Insertion	NM_007294.4(BRCA1):c.3649_3650insA (p.Ser1217fs)	BRCA1	Pathogenic	17	41243898	41243899	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3768&base_change=ins A,ClinGen:CA002336
Deletion	NM_007294.4(BRCA1):c.3714_3747del (p.Gln1240fs)	BRCA1	Pathogenic	17	41243801	41243834	CGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3829&base_change=ins T del 35,ClinGen:CA10586619
Duplication	NM_007294.4(BRCA1):c.3766dup (p.Thr1256fs)	BRCA1	Pathogenic	17	41243781	41243782	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3885&base_change=ins A,ClinGen:CA002421
Deletion	NM_007294.4(BRCA1):c.3771_3772del (p.Asn1259fs)	BRCA1	Pathogenic	17	41243776	41243777	TCC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3890&base_change=del GG,ClinGen:CA002425