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
Duplication	NM_000059.4(BRCA2):c.1316_1317dup (p.Leu440fs)	BRCA2	Pathogenic	13	32906928	32906929	A	ATT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1387del (p.Thr463fs)	BRCA2	Pathogenic	13	32907000	32907000	GA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1511del (p.Ser504fs)	BRCA2	Pathogenic	13	32907126	32907126	TC	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.1925del (p.Ser642fs)	BRCA2	Pathogenic	13	32910417	32910417	TC	T	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.3001dup (p.Ser1001fs)	BRCA2	Pathogenic	13	32911490	32911491	A	AT	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.3165_3168del (p.Asn1055fs)	BRCA2	Pathogenic	13	32911655	32911658	TAATC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.3779T>A (p.Leu1260Ter)	BRCA2	Pathogenic	13	32912271	32912271	T	A	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.4398dup (p.His1467fs)	BRCA2	Pathogenic	13	32912889	32912890	T	TA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.4448_4449del (p.Thr1483fs)	BRCA2	Pathogenic	13	32912939	32912940	AAC	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5191del (p.His1731fs)	BRCA2	Pathogenic	13	32913683	32913683	TC	T	criteria provided, single submitter	-