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_000059.4(BRCA2):c.3001del (p.Ser1001fs)	BRCA2	Pathogenic	13	32911491	32911491	AT	A	criteria provided, single submitter	ClinGen:CA10575913
Deletion	NM_000059.4(BRCA2):c.3834_3835del (p.His1278fs)	BRCA2	Pathogenic	13	32912325	32912326	CAT	C	reviewed by expert panel	ClinGen:CA10575917
Deletion	NM_000059.4(BRCA2):c.4041_4042del (p.Cys1348fs)	BRCA2	Pathogenic	13	32912532	32912533	GTT	G	criteria provided, single submitter	ClinGen:CA10575918
Deletion	NM_000059.4(BRCA2):c.4148_4149del (p.Asp1383fs)	BRCA2	Pathogenic	13	32912640	32912641	GAT	G	reviewed by expert panel	ClinGen:CA10575919
single nucleotide variant	NM_000059.4(BRCA2):c.5206C>T (p.Gln1736Ter)	BRCA2	Pathogenic	13	32913698	32913698	C	T	reviewed by expert panel	ClinGen:CA10575921
Duplication	NM_000059.4(BRCA2):c.6532dup (p.His2178fs)	BRCA2	Pathogenic	13	32915023	32915024	T	TC	reviewed by expert panel	ClinGen:CA10575925
Deletion	NM_000059.4(BRCA2):c.9011del (p.Lys3004fs)	BRCA2	Pathogenic	13	32953942	32953942	GA	G	reviewed by expert panel	ClinGen:CA10575932
single nucleotide variant	NM_000059.4(BRCA2):c.9318G>A (p.Trp3106Ter)	BRCA2	Pathogenic	13	32968887	32968887	G	A	reviewed by expert panel	ClinGen:CA10575935
Deletion	NM_000059.4(BRCA2):c.9753del (p.Lys3251fs)	BRCA2	Pathogenic	13	32972403	32972403	AG	A	reviewed by expert panel	ClinGen:CA10575936
Deletion	NM_007294.4(BRCA1):c.4755del (p.Glu1586fs)	BRCA1	Pathogenic	17	41223176	41223176	CT	C	criteria provided, single submitter	ClinGen:CA10575940