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.1797_1801del (p.Tyr600fs)	BRCA2	Pathogenic	13	32907412	32907416	CTTATA	C	reviewed by expert panel	ClinGen:CA013279
Deletion	NM_000059.4(BRCA2):c.17_18del (p.Lys6fs)	BRCA2	Pathogenic	13	32890613	32890614	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):245&base_change=del AA,ClinGen:CA012987
single nucleotide variant	NM_000059.4(BRCA2):c.1800T>G (p.Tyr600Ter)	BRCA2	Pathogenic	13	32907415	32907415	T	G	reviewed by expert panel	ClinGen:CA013323
Deletion	NM_000059.4(BRCA2):c.1805del (p.Gly602fs)	BRCA2	Pathogenic	13	32907419	32907419	AG	A	reviewed by expert panel	ClinGen:CA013339
Duplication	NM_000059.4(BRCA2):c.1815dup (p.Pro606fs)	BRCA2	Pathogenic	13	32907429	32907430	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2042&base_change=ins A,ClinGen:CA013408
single nucleotide variant	NM_000059.4(BRCA2):c.1825C>T (p.Gln609Ter)	BRCA2	Pathogenic	13	32907440	32907440	C	T	reviewed by expert panel	ClinGen:CA013487
Deletion	NM_000059.4(BRCA2):c.1831del (p.Ser611fs)	BRCA2	Pathogenic	13	32907446	32907446	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2059&base_change=del T,ClinGen:CA013499
Duplication	NM_000059.4(BRCA2):c.1842dup (p.Asn615Ter)	BRCA2	Pathogenic	13	32907455	32907456	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2070&base_change=ins T,ClinGen:CA013542
Duplication	NM_000059.4(BRCA2):c.1851dup (p.Ala618fs)	BRCA2	Pathogenic	13	32907465	32907466	C	CA	reviewed by expert panel	ClinGen:CA013583
Indel	NM_000059.4(BRCA2):c.1854delinsAA (p.Gln619fs)	BRCA2	Pathogenic	13	32907469	32907469	C	AA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2082&base_change=del C ins AA,ClinGen:CA266493