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.171del (p.Asn56_Tyr57insTer)	BRCA2	Pathogenic	13	32893317	32893317	AC	A	reviewed by expert panel	ClinGen:CA645509356
Deletion	NM_000059.4(BRCA2):c.614del (p.Ser205fs)	BRCA2	Pathogenic	13	32900733	32900733	AG	A	reviewed by expert panel	ClinGen:CA645509357
Deletion	NM_000059.4(BRCA2):c.1429del (p.His477fs)	BRCA2	Pathogenic	13	32907044	32907044	TC	T	reviewed by expert panel	ClinGen:CA645509338
Deletion	NM_000059.4(BRCA2):c.1905_1909del (p.Asp635fs)	BRCA2	Pathogenic	13	32907520	32907524	ATTCAG	A	reviewed by expert panel	ClinGen:CA645509339
Deletion	NM_000059.4(BRCA2):c.2156_2159del (p.Asn719fs)	BRCA2	Pathogenic	13	32910647	32910650	AAATG	A	reviewed by expert panel	ClinGen:CA645509340
Duplication	NM_000059.4(BRCA2):c.3307_3308dup (p.Leu1103fs)	BRCA2	Pathogenic	13	32911797	32911798	A	ATT	reviewed by expert panel	ClinGen:CA645509342
Deletion	NM_000059.4(BRCA2):c.3720_3721del (p.Leu1240_Phe1241insTer)	BRCA2	Pathogenic	13	32912211	32912212	CTG	C	reviewed by expert panel	ClinGen:CA645509344
Deletion	NM_000059.4(BRCA2):c.4710del (p.Glu1571fs)	BRCA2	Pathogenic	13	32913202	32913202	GA	G	reviewed by expert panel	ClinGen:CA645509348
Duplication	NM_000059.4(BRCA2):c.6034dup (p.Ser2012fs)	BRCA2	Pathogenic	13	32914522	32914523	C	CT	reviewed by expert panel	ClinGen:CA645509064
Duplication	NM_000059.4(BRCA2):c.6611dup (p.Val2205fs)	BRCA2	Pathogenic	13	32915101	32915102	T	TC	reviewed by expert panel	ClinGen:CA645372980