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
single nucleotide variant	NM_000059.4(BRCA2):c.9256+1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32954283	32954283	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA026058
Deletion	NM_007294.4(BRCA1):c.1148_1149del (p.Asn383fs)	BRCA1	Pathogenic	17	41246399	41246400	CAT	C	reviewed by expert panel	ClinGen:CA000761
single nucleotide variant	NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter)	BRCA1	Pathogenic	17	41246334	41246334	G	C	reviewed by expert panel	ClinGen:CA000798
Duplication	NM_007294.4(BRCA1):c.130dup (p.Cys44fs)	BRCA1	Pathogenic	17	41267746	41267747	C	CA	reviewed by expert panel	ClinGen:CA000851
Deletion	NM_007294.4(BRCA1):c.1434del (p.Glu479fs)	BRCA1	Pathogenic	17	41246114	41246114	CA	C	reviewed by expert panel	ClinGen:CA000960
Deletion	NM_007294.4(BRCA1):c.1579_1580del (p.Lys527fs)	BRCA1	Pathogenic	17	41245968	41245969	CTT	C	reviewed by expert panel	ClinGen:CA001055
Duplication	NM_007294.4(BRCA1):c.2001dup (p.Leu668fs)	BRCA1	Pathogenic	17	41245546	41245547	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2120&base_change=ins A,ClinGen:CA001334
Deletion	NM_007294.4(BRCA1):c.2101_2102del (p.Lys701fs)	BRCA1	Pathogenic	17	41245446	41245447	CTT	C	reviewed by expert panel	ClinGen:CA001391
Deletion	NM_007294.4(BRCA1):c.368del (p.Ser123fs)	BRCA1	Pathogenic	17	41256212	41256212	AG	A	reviewed by expert panel	ClinGen:CA002360
Deletion	NM_007294.4(BRCA1):c.3759del (p.Lys1254fs)	BRCA1	Pathogenic	17	41243789	41243789	TA	T	reviewed by expert panel	ClinGen:CA002412