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.3648dup (p.Ser1217fs)	BRCA1	Pathogenic	17	41243900	41243900	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3767&base_change=ins A,ClinGen:CA002335
Deletion	NM_007294.4(BRCA1):c.3683del (p.His1228fs)	BRCA1	Pathogenic	17	41243865	41243865	GT	G	reviewed by expert panel	ClinGen:CA002355
single nucleotide variant	NM_007294.4(BRCA1):c.3689T>G (p.Leu1230Ter)	BRCA1	Pathogenic	17	41243859	41243859	A	C	reviewed by expert panel	ClinGen:CA002359
Deletion	NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs)	BRCA1	Pathogenic	17	41243788	41243789	TTA	T	reviewed by expert panel	ClinGen:CA002410,Breast Cancer Information Core (BIC) (BRCA1):3878&base_change=del TA
Duplication	NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs)	BRCA1	Pathogenic	17	41243783	41243784	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3883&base_change=ins A,ClinGen:CA002420
Indel	NM_007294.4(BRCA1):c.3771_3772delinsC (p.Glu1257fs)	BRCA1	Pathogenic	17	41243776	41243777	CC	G	reviewed by expert panel	ClinGen:CA002426
Duplication	NM_007294.4(BRCA1):c.3825dup (p.Leu1276fs)	BRCA1	Pathogenic	17	41243722	41243723	A	AT	reviewed by expert panel	ClinGen:CA002465
Deletion	NM_007294.4(BRCA1):c.3858_3861del (p.Ser1286fs)	BRCA1	Pathogenic	17	41243687	41243690	CCTCA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3975&base_change=del AGTG,Breast Cancer Information Core (BIC) (BRCA1):3977&base_change=del 4,ClinGen:CA002486
single nucleotide variant	NM_007294.4(BRCA1):c.3868A>T (p.Lys1290Ter)	BRCA1	Pathogenic	17	41243680	41243680	T	A	reviewed by expert panel	ClinGen:CA002492
single nucleotide variant	NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter)	BRCA1	Pathogenic	17	41243611	41243611	G	A	reviewed by expert panel	ClinGen:CA002527