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.5268_5274del (p.Asp1757fs)	BRCA1	Pathogenic	17	41209072	41209078	TTCTGTCC	T	reviewed by expert panel	ClinGen:CA10586601
Duplication	NM_007294.4(BRCA1):c.5234dup (p.Asn1745fs)	BRCA1	Pathogenic	17	41209111	41209112	G	GT	reviewed by expert panel	ClinGen:CA10586602
Duplication	NM_007294.4(BRCA1):c.5133dup (p.Trp1712fs)	BRCA1	Pathogenic	17	41215909	41215910	A	AT	reviewed by expert panel	ClinGen:CA10586603
Deletion	NM_007294.4(BRCA1):c.5123del (p.Ala1708fs)	BRCA1	Pathogenic	17	41215920	41215920	CG	C	reviewed by expert panel	ClinGen:CA10586604
Deletion	NM_007294.4(BRCA1):c.5027_5031del (p.Thr1675_Leu1676insTer)	BRCA1	Pathogenic	17	41219668	41219672	TAGTTA	T	reviewed by expert panel	ClinGen:CA003156
Deletion	NM_007294.4(BRCA1):c.4969del (p.Gly1656_Leu1657insTer)	BRCA1	Pathogenic	17	41222962	41222962	AG	A	reviewed by expert panel	ClinGen:CA10586605
Duplication	NM_007294.4(BRCA1):c.4932_4933dup (p.Arg1645fs)	BRCA1	Pathogenic	17	41222997	41222998	C	CTT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5052&base_change=ins AA,ClinGen:CA003083
Deletion	NM_007294.4(BRCA1):c.4806del (p.Gln1604fs)	BRCA1	Pathogenic	17	41223125	41223125	GA	G	reviewed by expert panel	ClinGen:CA10586607
Insertion	NM_007294.4(BRCA1):c.4609_4610insCC (p.Gln1537fs)	BRCA1	Pathogenic	17	41226413	41226414	T	TGG	reviewed by expert panel	ClinGen:CA10586608
Deletion	NM_007294.4(BRCA1):c.4483del (p.Arg1495fs)	BRCA1	Pathogenic	17	41228506	41228506	CT	C	reviewed by expert panel	ClinGen:CA10586609