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.5253C>A (p.Tyr1751Ter)	BRCA2	Pathogenic	13	32913745	32913745	C	A	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.5327dup (p.Leu1776fs)	BRCA2	Pathogenic	13	32913817	32913818	A	AT	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.5342dup (p.Asp1781fs)	BRCA2	Pathogenic	13	32913833	32913834	G	GA	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.5352dup (p.Thr1785fs)	BRCA2	Pathogenic	13	32913843	32913844	A	AC	reviewed by expert panel	ClinGen:CA645509351
Duplication	NM_000059.4(BRCA2):c.5415dup (p.Glu1806Ter)	BRCA2	Pathogenic	13	32913906	32913907	A	AT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.5606_5607insC (p.Ser1871fs)	BRCA2	Pathogenic	13	32914098	32914099	G	GC	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.5650dup (p.Ile1884fs)	BRCA2	Pathogenic	13	32914137	32914138	C	CA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.5676_5677insA (p.Cys1893fs)	BRCA2	Pathogenic	13	32914168	32914169	T	TA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.5833_5834insG (p.Ile1945fs)	BRCA2	Pathogenic	13	32914325	32914326	A	AG	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.5996dup (p.Phe2000fs)	BRCA2	Pathogenic	13	32914487	32914488	G	GT	reviewed by expert panel	ClinGen:CA645372974